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Log page index: User:ProteinBoxBot/PBB_Log_Index
[edit] Protein Status Quick Log - Date: 18:55, 4 November 2007 (UTC)
[edit] Proteins without matches (9)
[edit] Proteins with a High Potential Match (16)
[edit] Created (3)
[edit] Manual Inspection (Page not found) (22)
[edit] Protein Status Grid - Date: 18:55, 4 November 2007 (UTC)
[edit] Vebose Log - Date: 18:55, 4 November 2007 (UTC)
- INFO: Beginning work on CALCA... {November 4, 2007 10:17:39 AM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 10:21:39 AM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
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}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Calcitonin/calcitonin-related polypeptide, alpha
| HGNCid = 1437
| Symbol = CALCA
| AltSymbols =; CALC1; CGRP; CGRP-I; CGRP1; CT; KC; MGC126648
| OMIM = 114130
| ECnumber =
| Homologene = 1319
| MGIid = 2151253
| GeneAtlas_image1 = PBB_GE_CALCA_210728_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_CALCA_210727_at_tn.png
| GeneAtlas_image3 = PBB_GE_CALCA_217495_x_at_tn.png
| Function = {{GNF_GO|id=GO:0005179 |text = hormone activity}}
| Component = {{GNF_GO|id=GO:0005576 |text = extracellular region}} {{GNF_GO|id=GO:0005615 |text = extracellular space}} {{GNF_GO|id=GO:0005625 |text = soluble fraction}} {{GNF_GO|id=GO:0005783 |text = endoplasmic reticulum}}
| Process = {{GNF_GO|id=GO:0001501 |text = skeletal development}} {{GNF_GO|id=GO:0007188 |text = G-protein signaling, coupled to cAMP nucleotide second messenger}} {{GNF_GO|id=GO:0007190 |text = adenylate cyclase activation}} {{GNF_GO|id=GO:0007202 |text = phospholipase C activation}} {{GNF_GO|id=GO:0007204 |text = elevation of cytosolic calcium ion concentration}} {{GNF_GO|id=GO:0007267 |text = cell-cell signaling}} {{GNF_GO|id=GO:0008217 |text = blood pressure regulation}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 796
| Hs_Ensembl = ENSG00000110680
| Hs_RefseqProtein = NP_001029124
| Hs_RefseqmRNA = NM_001033952
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 11
| Hs_GenLoc_start = 14944792
| Hs_GenLoc_end = 14950427
| Hs_Uniprot = P01258
| Mm_EntrezGene = 12310
| Mm_Ensembl = ENSMUSG00000030669
| Mm_RefseqmRNA = NM_001033954
| Mm_RefseqProtein = NP_001029126
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 7
| Mm_GenLoc_start = 114422640
| Mm_GenLoc_end = 114427439
| Mm_Uniprot = Q99JA0
}}
}}
'''Calcitonin/calcitonin-related polypeptide, alpha''', also known as '''CALCA''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = Calcitonin is a peptide hormone synthesized by the parafollicular cells of the thyroid. It causes reduction in serum calcium, an effect opposite to that of parathyroid hormone (PTH; MIM 168450).[supplied by OMIM]<ref>{{cite web | title = Entrez Gene: CALCA calcitonin/calcitonin-related polypeptide, alpha| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=796| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=MacIntyre I, Alevizaki M, Bevis PJ, Zaidi M |title=Calcitonin and the peptides from the calcitonin gene. |journal=Clin. Orthop. Relat. Res. |volume= |issue= 217 |pages= 45-55 |year= 1987 |pmid= 3549095 |doi= }}
*{{cite journal | author=Di Angelantonio S, Giniatullin R, Costa V, ''et al.'' |title=Modulation of neuronal nicotinic receptor function by the neuropeptides CGRP and substance P on autonomic nerve cells. |journal=Br. J. Pharmacol. |volume=139 |issue= 6 |pages= 1061-73 |year= 2004 |pmid= 12871824 |doi= 10.1038/sj.bjp.0705337 }}
*{{cite journal | author=Findlay DM, Sexton PM |title=Calcitonin. |journal=Growth Factors |volume=22 |issue= 4 |pages= 217-24 |year= 2005 |pmid= 15621724 |doi= 10.1080/08977190410001728033 }}
*{{cite journal | author=Sponholz C, Sakr Y, Reinhart K, Brunkhorst F |title=Diagnostic value and prognostic implications of serum procalcitonin after cardiac surgery: a systematic review of the literature. |journal=Critical care (London, England) |volume=10 |issue= 5 |pages= R145 |year= 2007 |pmid= 17038199 |doi= 10.1186/cc5067 }}
*{{cite journal | author=Schneider HG, Lam QT |title=Procalcitonin for the clinical laboratory: a review. |journal=Pathology |volume=39 |issue= 4 |pages= 383-90 |year= 2007 |pmid= 17676478 |doi= 10.1080/00313020701444564 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on CASP7... {November 4, 2007 10:21:39 AM PST}
- UPLOAD: Added new Image to wiki:
{November 4, 2007 10:22:11 AM PST}
- CREATE: Found no pages, creating new page. {November 4, 2007 10:22:26 AM PST}
- CREATED: Created new protein page: CASP7 {November 4, 2007 10:22:33 AM PST}
- INFO: Beginning work on CD55... {November 4, 2007 10:26:15 AM PST}
- UPLOAD: Added new Image to wiki:
{November 4, 2007 10:27:06 AM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 10:27:23 AM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_CD55_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1h03.
| PDB = {{PDB2|1h03}}, {{PDB2|1h04}}, {{PDB2|1h2p}}, {{PDB2|1h2q}}, {{PDB2|1m11}}, {{PDB2|1nwv}}, {{PDB2|1ojv}}, {{PDB2|1ojw}}, {{PDB2|1ojy}}, {{PDB2|1ok1}}, {{PDB2|1ok2}}, {{PDB2|1ok3}}, {{PDB2|1ok9}}, {{PDB2|1uot}}, {{PDB2|1upn}}, {{PDB2|2c8i}}
| Name = CD55 molecule, decay accelerating factor for complement (Cromer blood group)
| HGNCid = 2665
| Symbol = CD55
| AltSymbols =; CR; DAF; TC
| OMIM = 125240
| ECnumber =
| Homologene = 479
| MGIid = 104850
| GeneAtlas_image1 = PBB_GE_CD55_201925_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_CD55_201926_s_at_tn.png
| Function = {{GNF_GO|id=GO:0048503 |text = GPI anchor binding}}
| Component = {{GNF_GO|id=GO:0005625 |text = soluble fraction}} {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0006958 |text = complement activation, classical pathway}} {{GNF_GO|id=GO:0045087 |text = innate immune response}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 1604
| Hs_Ensembl = ENSG00000196352
| Hs_RefseqProtein = NP_000565
| Hs_RefseqmRNA = NM_000574
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 1
| Hs_GenLoc_start = 205561476
| Hs_GenLoc_end = 205600934
| Hs_Uniprot = P08174
| Mm_EntrezGene = 13136
| Mm_Ensembl = ENSMUSG00000026399
| Mm_RefseqmRNA = NM_010016
| Mm_RefseqProtein = NP_034146
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 1
| Mm_GenLoc_start = 132267756
| Mm_GenLoc_end = 132290241
| Mm_Uniprot = Q3TU32
}}
}}
'''CD55 molecule, decay accelerating factor for complement (Cromer blood group)''', also known as '''CD55''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text =
}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Selinka HC, Wolde A, Sauter M, ''et al.'' |title=Virus-receptor interactions of coxsackie B viruses and their putative influence on cardiotropism. |journal=Med. Microbiol. Immunol. |volume=193 |issue= 2-3 |pages= 127-31 |year= 2004 |pmid= 12920584 |doi= 10.1007/s00430-003-0193-y }}
*{{cite journal | author=Mikesch JH, Schier K, Roetger A, ''et al.'' |title=The expression and action of decay-accelerating factor (CD55) in human malignancies and cancer therapy. |journal=Cell. Oncol. |volume=28 |issue= 5-6 |pages= 223-32 |year= 2007 |pmid= 17167176 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on COL3A1... {November 4, 2007 10:22:33 AM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 10:23:48 AM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)
| HGNCid = 2201
| Symbol = COL3A1
| AltSymbols =; EDS4A; FLJ34534
| OMIM = 120180
| ECnumber =
| Homologene = 55433
| MGIid = 88453
| GeneAtlas_image1 = PBB_GE_COL3A1_211161_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_COL3A1_201852_x_at_tn.png
| GeneAtlas_image3 = PBB_GE_COL3A1_215076_s_at_tn.png
| Function = {{GNF_GO|id=GO:0005201 |text = extracellular matrix structural constituent}}
| Component = {{GNF_GO|id=GO:0005581 |text = collagen}} {{GNF_GO|id=GO:0005586 |text = collagen type III}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}}
| Process = {{GNF_GO|id=GO:0006817 |text = phosphate transport}} {{GNF_GO|id=GO:0008015 |text = circulation}} {{GNF_GO|id=GO:0009887 |text = organ morphogenesis}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 1281
| Hs_Ensembl = ENSG00000168542
| Hs_RefseqProtein = NP_000081
| Hs_RefseqmRNA = NM_000090
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 2
| Hs_GenLoc_start = 189547344
| Hs_GenLoc_end = 189585717
| Hs_Uniprot = P02461
| Mm_EntrezGene = 12825
| Mm_Ensembl = ENSMUSG00000026043
| Mm_RefseqmRNA = NM_009930
| Mm_RefseqProtein = NP_034060
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 1
| Mm_GenLoc_start = 45272979
| Mm_GenLoc_end = 45290601
| Mm_Uniprot =
}}
}}
'''Collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)''', also known as '''COL3A1''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene encodes a fibrillar collagen that is found in extensible connective tissues such as skin, lung, and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome type IV, and with aortic and arterial aneurysms. Although alternate transcripts have been detected for this gene, they are the result of mutations; these mutations alter splicing, often leading to the exclusion of multiple exons.<ref>{{cite web | title = Entrez Gene: COL3A1 collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1281| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Kuivaniemi H, Tromp G, Prockop DJ |title=Genetic causes of aortic aneurysms. Unlearning at least part of what the textbooks say. |journal=J. Clin. Invest. |volume=88 |issue= 5 |pages= 1441-4 |year= 1991 |pmid= 1939638 |doi= }}
*{{cite journal | author=Kuivaniemi H, Tromp G, Prockop DJ |title=Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels. |journal=Hum. Mutat. |volume=9 |issue= 4 |pages= 300-15 |year= 1997 |pmid= 9101290 |doi= 10.1002/(SICI)1098-1004(1997)9:4<300::AID-HUMU2>3.0.CO;2-9 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on CTSD... {November 4, 2007 10:23:48 AM PST}
- UPLOAD: Added new Image to wiki:
{November 4, 2007 10:24:39 AM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 10:24:56 AM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_CTSD_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1lya.
| PDB = {{PDB2|1lya}}, {{PDB2|1lyb}}, {{PDB2|1lyw}}
| Name = Cathepsin D
| HGNCid = 2529
| Symbol = CTSD
| AltSymbols =; CLN10; CPSD; MGC2311
| OMIM = 116840
| ECnumber =
| Homologene = 55616
| MGIid = 88562
| GeneAtlas_image1 = PBB_GE_CTSD_200766_at_tn.png
| GeneAtlas_image2 = PBB_GE_CTSD_gnf1h05436_s_at_tn.png
| Function = {{GNF_GO|id=GO:0004192 |text = cathepsin D activity}} {{GNF_GO|id=GO:0004194 |text = pepsin A activity}} {{GNF_GO|id=GO:0008233 |text = peptidase activity}}
| Component = {{GNF_GO|id=GO:0005576 |text = extracellular region}} {{GNF_GO|id=GO:0005739 |text = mitochondrion}} {{GNF_GO|id=GO:0005764 |text = lysosome}}
| Process = {{GNF_GO|id=GO:0006508 |text = proteolysis}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 1509
| Hs_Ensembl = ENSG00000117984
| Hs_RefseqProtein = NP_001900
| Hs_RefseqmRNA = NM_001909
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 11
| Hs_GenLoc_start = 1730558
| Hs_GenLoc_end = 1741798
| Hs_Uniprot = P07339
| Mm_EntrezGene = 13033
| Mm_Ensembl = ENSMUSG00000007891
| Mm_RefseqmRNA = NM_009983
| Mm_RefseqProtein = NP_034113
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 7
| Mm_GenLoc_start = 142185307
| Mm_GenLoc_end = 142197290
| Mm_Uniprot = Q05BF3
}}
}}
'''Cathepsin D''', also known as '''CTSD''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene encodes a lysosomal aspartyl protease composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. This proteinase, which is a member of the peptidase C1 family, has a specificity similar to but narrower than that of pepsin A. Transcription of this gene is initiated from several sites, including one which is a start site for an estrogen-regulated transcript. Mutations in this gene are involved in the pathogenesis of several diseases, including breast cancer and possibly Alzheimer disease.<ref>{{cite web | title = Entrez Gene: CTSD cathepsin D| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1509| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Chao J, Miao RQ, Chen V, ''et al.'' |title=Novel roles of kallistatin, a specific tissue kallikrein inhibitor, in vascular remodeling. |journal=Biol. Chem. |volume=382 |issue= 1 |pages= 15-21 |year= 2001 |pmid= 11258665 |doi= }}
*{{cite journal | author=Leto G, Tumminello FM, Crescimanno M, ''et al.'' |title=Cathepsin D expression levels in nongynecological solid tumors: clinical and therapeutic implications. |journal=Clin. Exp. Metastasis |volume=21 |issue= 2 |pages= 91-106 |year= 2004 |pmid= 15168727 |doi= }}
*{{cite journal | author=Liaudet-Coopman E, Beaujouin M, Derocq D, ''et al.'' |title=Cathepsin D: newly discovered functions of a long-standing aspartic protease in cancer and apoptosis. |journal=Cancer Lett. |volume=237 |issue= 2 |pages= 167-79 |year= 2006 |pmid= 16046058 |doi= 10.1016/j.canlet.2005.06.007 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on CYP2E1... {November 4, 2007 10:24:56 AM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 10:26:15 AM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Cytochrome P450, family 2, subfamily E, polypeptide 1
| HGNCid = 2631
| Symbol = CYP2E1
| AltSymbols =; CPE1; CYP2E; P450-J; P450C2E
| OMIM = 124040
| ECnumber =
| Homologene = 68089
| MGIid = 88607
| GeneAtlas_image1 = PBB_GE_CYP2E1_1431_at_tn.png
| GeneAtlas_image2 = PBB_GE_CYP2E1_209975_at_tn.png
| GeneAtlas_image3 = PBB_GE_CYP2E1_209976_s_at_tn.png
| Function = {{GNF_GO|id=GO:0004497 |text = monooxygenase activity}} {{GNF_GO|id=GO:0005506 |text = iron ion binding}} {{GNF_GO|id=GO:0019825 |text = oxygen binding}} {{GNF_GO|id=GO:0020037 |text = heme binding}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}} {{GNF_GO|id=GO:0050381 |text = unspecific monooxygenase activity}}
| Component = {{GNF_GO|id=GO:0005783 |text = endoplasmic reticulum}} {{GNF_GO|id=GO:0005792 |text = microsome}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0006118 |text = electron transport}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 1571
| Hs_Ensembl = ENSG00000130649
| Hs_RefseqProtein = NP_000764
| Hs_RefseqmRNA = NM_000773
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 10
| Hs_GenLoc_start = 135190857
| Hs_GenLoc_end = 135224714
| Hs_Uniprot = P05181
| Mm_EntrezGene = 13106
| Mm_Ensembl = ENSMUSG00000025479
| Mm_RefseqmRNA = NM_021282
| Mm_RefseqProtein = NP_067257
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 7
| Mm_GenLoc_start = 140615152
| Mm_GenLoc_end = 140626301
| Mm_Uniprot = Q05421
}}
}}
'''Cytochrome P450, family 2, subfamily E, polypeptide 1''', also known as '''CYP2E1''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is induced by ethanol, the diabetic state, and starvation. The enzyme metabolizes both endogenous substrates, such as ethanol, acetone, and acetal, as well as exogenous substrates including benzene, carbon tetrachloride, ethylene glycol, and nitrosamines which are premutagens found in cigarette smoke. Due to its many substrates, this enzyme may be involved in such varied processes as gluconeogenesis, hepatic cirrhosis, diabetes, and cancer.<ref>{{cite web | title = Entrez Gene: CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1571| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Smith G, Stubbins MJ, Harries LW, Wolf CR |title=Molecular genetics of the human cytochrome P450 monooxygenase superfamily. |journal=Xenobiotica |volume=28 |issue= 12 |pages= 1129-65 |year= 1999 |pmid= 9890157 |doi= }}
*{{cite journal | author=Kessova I, Cederbaum AI |title=CYP2E1: biochemistry, toxicology, regulation and function in ethanol-induced liver injury. |journal=Curr. Mol. Med. |volume=3 |issue= 6 |pages= 509-18 |year= 2003 |pmid= 14527082 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on ELN... {November 4, 2007 10:27:23 AM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 10:28:30 AM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Elastin (supravalvular aortic stenosis, Williams-Beuren syndrome)
| HGNCid = 3327
| Symbol = ELN
| AltSymbols =; WBS; FLJ38671; FLJ43523; SVAS; WS
| OMIM = 130160
| ECnumber =
| Homologene = 73880
| MGIid = 95317
| GeneAtlas_image1 = PBB_GE_ELN_212670_at_tn.png
| GeneAtlas_image2 = PBB_GE_ELN_216269_s_at_tn.png
| Function = {{GNF_GO|id=GO:0005201 |text = extracellular matrix structural constituent}} {{GNF_GO|id=GO:0005525 |text = GTP binding}} {{GNF_GO|id=GO:0030023 |text = extracellular matrix constituent conferring elasticity}}
| Component = {{GNF_GO|id=GO:0005578 |text = proteinaceous extracellular matrix}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}}
| Process = {{GNF_GO|id=GO:0007519 |text = striated muscle development}} {{GNF_GO|id=GO:0007585 |text = respiratory gaseous exchange}} {{GNF_GO|id=GO:0008015 |text = circulation}} {{GNF_GO|id=GO:0008283 |text = cell proliferation}} {{GNF_GO|id=GO:0009887 |text = organ morphogenesis}} {{GNF_GO|id=GO:0030833 |text = regulation of actin filament polymerization}} {{GNF_GO|id=GO:0043149 |text = stress fiber formation}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 2006
| Hs_Ensembl = ENSG00000049540
| Hs_RefseqProtein = NP_000492
| Hs_RefseqmRNA = NM_000501
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 7
| Hs_GenLoc_start = 73080372
| Hs_GenLoc_end = 73122170
| Hs_Uniprot = P15502
| Mm_EntrezGene = 13717
| Mm_Ensembl = ENSMUSG00000029675
| Mm_RefseqmRNA = NM_007925
| Mm_RefseqProtein = NP_031951
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 5
| Mm_GenLoc_start = 134988408
| Mm_GenLoc_end = 135031868
| Mm_Uniprot = Q8C9L8
}}
}}
'''Elastin (supravalvular aortic stenosis, Williams-Beuren syndrome)''', also known as '''ELN''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text =
}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Keeley FW, Bellingham CM, Woodhouse KA |title=Elastin as a self-organizing biomaterial: use of recombinantly expressed human elastin polypeptides as a model for investigations of structure and self-assembly of elastin. |journal=Philos. Trans. R. Soc. Lond., B, Biol. Sci. |volume=357 |issue= 1418 |pages= 185-9 |year= 2002 |pmid= 11911775 |doi= 10.1098/rstb.2001.1027 }}
*{{cite journal | author=Tzaphlidou M |title=The role of collagen and elastin in aged skin: an image processing approach. |journal=Micron |volume=35 |issue= 3 |pages= 173-7 |year= 2004 |pmid= 15036271 |doi= 10.1016/j.micron.2003.11.003 }}
*{{cite journal | author=Rodriguez-Revenga L, Iranzo P, Badenas C, ''et al.'' |title=A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa. |journal=Archives of dermatology |volume=140 |issue= 9 |pages= 1135-9 |year= 2004 |pmid= 15381555 |doi= 10.1001/archderm.140.9.1135 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on GHR... {November 4, 2007 10:28:30 AM PST}
- UPLOAD: Added new Image to wiki:
{November 4, 2007 10:29:05 AM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 10:29:27 AM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_GHR_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1a22.
| PDB = {{PDB2|1a22}}, {{PDB2|1axi}}, {{PDB2|1hwg}}, {{PDB2|1hwh}}, {{PDB2|1kf9}}, {{PDB2|2aew}}, {{PDB2|3hhr}}
| Name = Growth hormone receptor
| HGNCid = 4263
| Symbol = GHR
| AltSymbols =; GHBP
| OMIM = 600946
| ECnumber =
| Homologene = 134
| MGIid = 95708
| GeneAtlas_image1 = PBB_GE_GHR_205498_at_tn.png
| Function = {{GNF_GO|id=GO:0004872 |text = receptor activity}} {{GNF_GO|id=GO:0004903 |text = growth hormone receptor activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0019898 |text = extrinsic to membrane}}
| Process = {{GNF_GO|id=GO:0001501 |text = skeletal development}} {{GNF_GO|id=GO:0006897 |text = endocytosis}} {{GNF_GO|id=GO:0040007 |text = growth}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 2690
| Hs_Ensembl = ENSG00000112964
| Hs_RefseqProtein = NP_000154
| Hs_RefseqmRNA = NM_000163
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 5
| Hs_GenLoc_start = 42459783
| Hs_GenLoc_end = 42757736
| Hs_Uniprot = P10912
| Mm_EntrezGene = 14600
| Mm_Ensembl = ENSMUSG00000055737
| Mm_RefseqmRNA = NM_001048147
| Mm_RefseqProtein = NP_001041612
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 15
| Mm_GenLoc_start = 3267774
| Mm_GenLoc_end = 3533231
| Mm_Uniprot = Q3UNY8
}}
}}
'''Growth hormone receptor''', also known as '''GHR''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene encodes a protein that is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. A common alternate allele of this gene, called GHRd3, lacks exon three and has been well-characterized. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. Other splice variants, including one encoding a soluble form of the protein (GHRtr), have been observed but have not been thoroughly characterized.<ref>{{cite web | title = Entrez Gene: GHR growth hormone receptor| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2690| accessdate = }}</ref>
}}
==References==
{{reflist}}
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on HSPA8... {November 4, 2007 10:29:27 AM PST}
- UPLOAD: Added new Image to wiki:
{November 4, 2007 10:31:02 AM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 10:31:37 AM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_HSPA8_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1atr.
| PDB = {{PDB2|1atr}}, {{PDB2|1ats}}, {{PDB2|1ba0}}, {{PDB2|1ba1}}, {{PDB2|1bup}}, {{PDB2|1ckr}}, {{PDB2|1hpm}}, {{PDB2|1hx1}}, {{PDB2|1kax}}, {{PDB2|1kay}}, {{PDB2|1kaz}}, {{PDB2|1nga}}, {{PDB2|1ngb}}, {{PDB2|1ngc}}, {{PDB2|1ngd}}, {{PDB2|1nge}}, {{PDB2|1ngf}}, {{PDB2|1ngg}}, {{PDB2|1ngh}}, {{PDB2|1ngi}}, {{PDB2|1ngj}}, {{PDB2|1qqm}}, {{PDB2|1qqn}}, {{PDB2|1qqo}}, {{PDB2|1ud0}}, {{PDB2|1yuw}}, {{PDB2|2bup}}, {{PDB2|3hsc}}, {{PDB2|7hsc}}
| Name = Heat shock 70kDa protein 8
| HGNCid = 5241
| Symbol = HSPA8
| AltSymbols =; LAP1; HSC54; HSC70; HSC71; HSP71; HSP73; HSPA10; MGC131511; MGC29929; NIP71
| OMIM = 600816
| ECnumber =
| Homologene = 68524
| MGIid = 105384
| GeneAtlas_image1 = PBB_GE_HSPA8_210338_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_HSPA8_208687_x_at_tn.png
| GeneAtlas_image3 = PBB_GE_HSPA8_221891_x_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0042623 |text = ATPase activity, coupled}}
| Component = {{GNF_GO|id=GO:0005622 |text = intracellular}} {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0009986 |text = cell surface}}
| Process = {{GNF_GO|id=GO:0006457 |text = protein folding}} {{GNF_GO|id=GO:0006986 |text = response to unfolded protein}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 3312
| Hs_Ensembl = ENSG00000109971
| Hs_RefseqProtein = NP_006588
| Hs_RefseqmRNA = NM_006597
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 11
| Hs_GenLoc_start = 122433411
| Hs_GenLoc_end = 122438054
| Hs_Uniprot = P11142
| Mm_EntrezGene = 15481
| Mm_Ensembl =
| Mm_RefseqmRNA = NM_031165
| Mm_RefseqProtein = NP_112442
| Mm_GenLoc_db =
| Mm_GenLoc_chr =
| Mm_GenLoc_start =
| Mm_GenLoc_end =
| Mm_Uniprot =
}}
}}
'''Heat shock 70kDa protein 8''', also known as '''HSPA8''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = The product encoded by this gene belongs to the heat shock protein 70 family which contains both heat-inducible and constitutively expressed members. The latter are called heat-shock cognate proteins. This gene encodes a heat-shock cognate protein. This protein binds to nascent polypeptides to facilitate correct folding. It also functions as an ATPase in the disassembly of clathrin-coated vesicles during transport of membrane components through the cell. Two alternatively spliced variants have been characterized to date.<ref>{{cite web | title = Entrez Gene: HSPA8 heat shock 70kDa protein 8| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3312| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Kiang JG |title=Inducible heat shock protein 70 kD and inducible nitric oxide synthase in hemorrhage/resuscitation-induced injury. |journal=Cell Res. |volume=14 |issue= 6 |pages= 450-9 |year= 2005 |pmid= 15625011 |doi= 10.1038/sj.cr.7290247 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on IL2RA... {November 4, 2007 10:31:37 AM PST}
- UPLOAD: Added new Image to wiki:
{November 4, 2007 10:32:30 AM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 10:32:48 AM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_IL2RA_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1z92.
| PDB = {{PDB2|1z92}}, {{PDB2|2b5i}}, {{PDB2|2erj}}
| Name = Interleukin 2 receptor, alpha
| HGNCid = 6008
| Symbol = IL2RA
| AltSymbols =; IDDM10; CD25; IL2R; TCGFR
| OMIM = 147730
| ECnumber =
| Homologene = 360
| MGIid = 96549
| GeneAtlas_image1 = PBB_GE_IL2RA_211269_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_IL2RA_206341_at_tn.png
| Function = {{GNF_GO|id=GO:0004872 |text = receptor activity}} {{GNF_GO|id=GO:0004911 |text = interleukin-2 receptor activity}}
| Component = {{GNF_GO|id=GO:0005886 |text = plasma membrane}} {{GNF_GO|id=GO:0009897 |text = external side of plasma membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0000074 |text = regulation of progression through cell cycle}} {{GNF_GO|id=GO:0006924 |text = activated T cell apoptosis}} {{GNF_GO|id=GO:0006955 |text = immune response}} {{GNF_GO|id=GO:0007166 |text = cell surface receptor linked signal transduction}} {{GNF_GO|id=GO:0008283 |text = cell proliferation}} {{GNF_GO|id=GO:0042104 |text = positive regulation of activated T cell proliferation}} {{GNF_GO|id=GO:0042130 |text = negative regulation of T cell proliferation}} {{GNF_GO|id=GO:0043065 |text = positive regulation of apoptosis}} {{GNF_GO|id=GO:0050728 |text = negative regulation of inflammatory response}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 3559
| Hs_Ensembl = ENSG00000134460
| Hs_RefseqProtein = NP_000408
| Hs_RefseqmRNA = NM_000417
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 10
| Hs_GenLoc_start = 6092658
| Hs_GenLoc_end = 6144294
| Hs_Uniprot = P01589
| Mm_EntrezGene = 16184
| Mm_Ensembl = ENSMUSG00000026770
| Mm_RefseqmRNA = XM_993137
| Mm_RefseqProtein = XP_998231
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 2
| Mm_GenLoc_start = 11560703
| Mm_GenLoc_end = 11611044
| Mm_Uniprot = Q3TAS1
}}
}}
'''Interleukin 2 receptor, alpha''', also known as '''IL2RA''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the high-affinity IL2 receptor. Homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2RB) chains produce a medium-affinity receptor. Normally an integral-membrane protein, soluble IL2RA has been isolated and determined to result from extracellular proteolyisis. Alternately-spliced IL2RA mRNAs have been isolated, but the significance of each is presently unknown.<ref>{{cite web | title = Entrez Gene: IL2RA interleukin 2 receptor, alpha| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3559| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Kuziel WA, Greene WC |title=Interleukin-2 and the IL-2 receptor: new insights into structure and function. |journal=J. Invest. Dermatol. |volume=94 |issue= 6 Suppl |pages= 27S-32S |year= 1990 |pmid= 1693645 |doi= }}
*{{cite journal | author=Waldmann TA |title=The interleukin-2 receptor. |journal=J. Biol. Chem. |volume=266 |issue= 5 |pages= 2681-4 |year= 1991 |pmid= 1993646 |doi= }}
*{{cite journal | author=Murakami S |title=Soluble interleukin-2 receptor in cancer. |journal=Front. Biosci. |volume=9 |issue= |pages= 3085-90 |year= 2006 |pmid= 15353339 |doi= }}
*{{cite journal | author=Vincenti F |title=Interleukin-2 receptor antagonists and aggressive steroid minimization strategies for kidney transplant patients. |journal=Transpl. Int. |volume=17 |issue= 8 |pages= 395-401 |year= 2005 |pmid= 15365604 |doi= 10.1007/s00147-004-0750-3 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on ITGB4... {November 4, 2007 10:32:49 AM PST}
- UPLOAD: Added new Image to wiki:
{November 4, 2007 10:34:24 AM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 10:34:35 AM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_ITGB4_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1qg3.
| PDB = {{PDB2|1qg3}}
| Name = Integrin, beta 4
| HGNCid = 6158
| Symbol = ITGB4
| AltSymbols =; CD104
| OMIM = 147557
| ECnumber =
| Homologene = 179
| MGIid = 96613
| GeneAtlas_image1 = PBB_GE_ITGB4_204990_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_ITGB4_204989_s_at_tn.png
| GeneAtlas_image3 = PBB_GE_ITGB4_211905_s_at_tn.png
| Function = {{GNF_GO|id=GO:0004872 |text = receptor activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0008305 |text = integrin complex}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0007154 |text = cell communication}} {{GNF_GO|id=GO:0007155 |text = cell adhesion}} {{GNF_GO|id=GO:0007160 |text = cell-matrix adhesion}} {{GNF_GO|id=GO:0007229 |text = integrin-mediated signaling pathway}} {{GNF_GO|id=GO:0007275 |text = multicellular organismal development}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 3691
| Hs_Ensembl = ENSG00000132470
| Hs_RefseqProtein = NP_000204
| Hs_RefseqmRNA = NM_000213
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 17
| Hs_GenLoc_start = 71229111
| Hs_GenLoc_end = 71265493
| Hs_Uniprot = P16144
| Mm_EntrezGene = 192897
| Mm_Ensembl = ENSMUSG00000020758
| Mm_RefseqmRNA = NM_001005607
| Mm_RefseqProtein = NP_001005607
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 11
| Mm_GenLoc_start = 115791069
| Mm_GenLoc_end = 115824502
| Mm_Uniprot =
}}
}}
'''Integrin, beta 4''', also known as '''ITGB4''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.<ref>{{cite web | title = Entrez Gene: ITGB4 integrin, beta 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3691| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Lipscomb EA, Mercurio AM |title=Mobilization and activation of a signaling competent alpha6beta4integrin underlies its contribution to carcinoma progression. |journal=Cancer Metastasis Rev. |volume=24 |issue= 3 |pages= 413-23 |year= 2006 |pmid= 16258729 |doi= 10.1007/s10555-005-5133-4 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on KCNQ1... {November 4, 2007 10:34:35 AM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 10:37:29 AM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Potassium voltage-gated channel, KQT-like subfamily, member 1
| HGNCid = 6294
| Symbol = KCNQ1
| AltSymbols =; KCNA8; ATFB1; FLJ26167; JLNS1; KCNA9; KVLQT1; Kv1.9; Kv7.1; LQT; LQT1; RWS; SQT2; WRS
| OMIM = 607542
| ECnumber =
| Homologene = 85014
| MGIid = 108083
| GeneAtlas_image1 = PBB_GE_KCNQ1_204487_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_KCNQ1_211217_s_at_tn.png
| Function = {{GNF_GO|id=GO:0005251 |text = delayed rectifier potassium channel activity}} {{GNF_GO|id=GO:0030955 |text = potassium ion binding}}
| Component = {{GNF_GO|id=GO:0005624 |text = membrane fraction}} {{GNF_GO|id=GO:0008076 |text = voltage-gated potassium channel complex}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0006349 |text = imprinting}} {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0006813 |text = potassium ion transport}} {{GNF_GO|id=GO:0006936 |text = muscle contraction}} {{GNF_GO|id=GO:0007605 |text = sensory perception of sound}} {{GNF_GO|id=GO:0008016 |text = regulation of heart contraction}} {{GNF_GO|id=GO:0016458 |text = gene silencing}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 3784
| Hs_Ensembl = ENSG00000053918
| Hs_RefseqProtein = NP_861462
| Hs_RefseqmRNA = NM_181797
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 11
| Hs_GenLoc_start = 2422797
| Hs_GenLoc_end = 2826915
| Hs_Uniprot = P51787
| Mm_EntrezGene = 16535
| Mm_Ensembl = ENSMUSG00000009545
| Mm_RefseqmRNA = XM_622938
| Mm_RefseqProtein = XP_622938
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 7
| Mm_GenLoc_start = 142916644
| Mm_GenLoc_end = 143236440
| Mm_Uniprot = Q3U4H1
}}
}}
'''Potassium voltage-gated channel, KQT-like subfamily, member 1''', also known as '''KCNQ1''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene encodes a protein for a voltage-gated potassium channel required for the repolarization phase of the cardiac action potential. The gene product can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome, Romano-Ward syndrome, Jervell and Lange-Nielsen syndrome and familial atrial fibrillation. The gene is located in a region of chromosome 11 that contains a large number of contiguous genes that are abnormally imprinted in cancer and the Beckwith-Wiedemann syndrome. Two alternative transcripts encoding distinct isoforms have been described.<ref>{{cite web | title = Entrez Gene: KCNQ1 potassium voltage-gated channel, KQT-like subfamily, member 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3784| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Tranebjaerg L, Bathen J, Tyson J, Bitner-Glindzicz M |title=Jervell and Lange-Nielsen syndrome: a Norwegian perspective. |journal=Am. J. Med. Genet. |volume=89 |issue= 3 |pages= 137-46 |year= 2000 |pmid= 10704188 |doi= }}
*{{cite journal | author=Gutman GA, Chandy KG, Grissmer S, ''et al.'' |title=International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. |journal=Pharmacol. Rev. |volume=57 |issue= 4 |pages= 473-508 |year= 2006 |pmid= 16382104 |doi= 10.1124/pr.57.4.10 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on MAOA... {November 4, 2007 10:37:29 AM PST}
- UPLOAD: Added new Image to wiki:
{November 4, 2007 10:38:43 AM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 10:38:52 AM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_MAOA_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 2bxr.
| PDB = {{PDB2|2bxr}}, {{PDB2|2bxs}}
| Name = Monoamine oxidase A
| HGNCid = 6833
| Symbol = MAOA
| AltSymbols =;
| OMIM = 309850
| ECnumber =
| Homologene = 203
| MGIid = 96915
| GeneAtlas_image1 = PBB_GE_MAOA_204388_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_MAOA_204389_at_tn.png
| GeneAtlas_image3 = PBB_GE_MAOA_212741_at_tn.png
| Function = {{GNF_GO|id=GO:0008131 |text = amine oxidase activity}} {{GNF_GO|id=GO:0016491 |text = oxidoreductase activity}}
| Component = {{GNF_GO|id=GO:0005739 |text = mitochondrion}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0006118 |text = electron transport}} {{GNF_GO|id=GO:0006584 |text = catecholamine metabolic process}} {{GNF_GO|id=GO:0007610 |text = behavior}} {{GNF_GO|id=GO:0042420 |text = dopamine catabolic process}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 4128
| Hs_Ensembl = ENSG00000189221
| Hs_RefseqProtein = NP_000231
| Hs_RefseqmRNA = NM_000240
| Hs_GenLoc_db =
| Hs_GenLoc_chr = X
| Hs_GenLoc_start = 43400353
| Hs_GenLoc_end = 43491011
| Hs_Uniprot = P21397
| Mm_EntrezGene = 17161
| Mm_Ensembl = ENSMUSG00000025037
| Mm_RefseqmRNA = NM_173740
| Mm_RefseqProtein = NP_776101
| Mm_GenLoc_db =
| Mm_GenLoc_chr = X
| Mm_GenLoc_start = 15776657
| Mm_GenLoc_end = 15844677
| Mm_Uniprot = Q3TPD9
}}
}}
'''Monoamine oxidase A''', also known as '''MAOA''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene encodes monoamine oxidase A, an enzyme that degrades amine neurotransmitters, such as dopamine, norepinephrine, and serotonin. The protein localizes to the mitochondrial outer membrane. The gene is adjacent to a related gene on the opposite strand of chromosome X. Mutation in this gene results in monoamine oxidase deficiency, or Brunner syndrome.<ref>{{cite web | title = Entrez Gene: MAOA monoamine oxidase A| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4128| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Edmondson DE, Binda C, Mattevi A |title=The FAD binding sites of human monoamine oxidases A and B. |journal=Neurotoxicology |volume=25 |issue= 1-2 |pages= 63-72 |year= 2004 |pmid= 14697881 |doi= 10.1016/S0161-813X(03)00114-1 }}
*{{cite journal | author=Craig IW |title=The importance of stress and genetic variation in human aggression. |journal=Bioessays |volume=29 |issue= 3 |pages= 227-36 |year= 2007 |pmid= 17295220 |doi= 10.1002/bies.20538 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on MDH2... {November 4, 2007 10:38:52 AM PST}
- UPLOAD: Added new Image to wiki:
{November 4, 2007 10:39:45 AM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 10:40:02 AM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_MDH2_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1mld.
| PDB = {{PDB2|1mld}}, {{PDB2|2dfd}}
| Name = Malate dehydrogenase 2, NAD (mitochondrial)
| HGNCid = 6971
| Symbol = MDH2
| AltSymbols =; M-MDH; MDH; MGC:3559; MOR1
| OMIM = 154100
| ECnumber =
| Homologene = 55938
| MGIid = 97050
| GeneAtlas_image1 = PBB_GE_MDH2_209036_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_MDH2_213333_at_tn.png
| Function = {{GNF_GO|id=GO:0004459 |text = L-lactate dehydrogenase activity}} {{GNF_GO|id=GO:0016491 |text = oxidoreductase activity}} {{GNF_GO|id=GO:0030060 |text = L-malate dehydrogenase activity}}
| Component = {{GNF_GO|id=GO:0005739 |text = mitochondrion}} {{GNF_GO|id=GO:0005759 |text = mitochondrial matrix}}
| Process = {{GNF_GO|id=GO:0006096 |text = glycolysis}} {{GNF_GO|id=GO:0006099 |text = tricarboxylic acid cycle}} {{GNF_GO|id=GO:0006108 |text = malate metabolic process}} {{GNF_GO|id=GO:0008150 |text = biological_process}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 4191
| Hs_Ensembl = ENSG00000146701
| Hs_RefseqProtein = NP_005909
| Hs_RefseqmRNA = NM_005918
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 7
| Hs_GenLoc_start = 75515328
| Hs_GenLoc_end = 75533863
| Hs_Uniprot = P40926
| Mm_EntrezGene = 17448
| Mm_Ensembl = ENSMUSG00000019179
| Mm_RefseqmRNA = NM_008617
| Mm_RefseqProtein = NP_032643
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 5
| Mm_GenLoc_start = 136063259
| Mm_GenLoc_end = 136075014
| Mm_Uniprot = Q0QF44
}}
}}
'''Malate dehydrogenase 2, NAD (mitochondrial)''', also known as '''MDH2''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the mitochondria and may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria.<ref>{{cite web | title = Entrez Gene: MDH2 malate dehydrogenase 2, NAD (mitochondrial)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4191| accessdate = }}</ref>
}}
==References==
{{reflist}}
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on MME... {November 4, 2007 10:40:02 AM PST}
- UPLOAD: Added new Image to wiki:
{November 4, 2007 10:40:53 AM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 10:41:21 AM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_MME_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1dmt.
| PDB = {{PDB2|1dmt}}, {{PDB2|1r1h}}, {{PDB2|1r1i}}, {{PDB2|1r1j}}, {{PDB2|1y8j}}
| Name = Membrane metallo-endopeptidase
| HGNCid = 7154
| Symbol = MME
| AltSymbols =; NEP; CALLA; CD10; DKFZp686O16152; MGC126681; MGC126707
| OMIM = 120520
| ECnumber =
| Homologene = 5275
| MGIid = 97004
| GeneAtlas_image1 = PBB_GE_MME_203434_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_MME_203435_s_at_tn.png
| Function = {{GNF_GO|id=GO:0004245 |text = neprilysin activity}} {{GNF_GO|id=GO:0008237 |text = metallopeptidase activity}} {{GNF_GO|id=GO:0008270 |text = zinc ion binding}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}}
| Component = {{GNF_GO|id=GO:0005886 |text = plasma membrane}} {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}}
| Process = {{GNF_GO|id=GO:0006508 |text = proteolysis}} {{GNF_GO|id=GO:0007267 |text = cell-cell signaling}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 4311
| Hs_Ensembl = ENSG00000196549
| Hs_RefseqProtein = NP_000893
| Hs_RefseqmRNA = NM_000902
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 3
| Hs_GenLoc_start = 156284651
| Hs_GenLoc_end = 156384186
| Hs_Uniprot = P08473
| Mm_EntrezGene = 17380
| Mm_Ensembl = ENSMUSG00000027820
| Mm_RefseqmRNA = NM_008604
| Mm_RefseqProtein = NP_032630
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 3
| Mm_GenLoc_start = 63383801
| Mm_GenLoc_end = 63470160
| Mm_Uniprot = Q8BNU9
}}
}}
'''Membrane metallo-endopeptidase''', also known as '''MME''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene encodes a common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL). This protein is present on leukemic cells of pre-B phenotype, which represent 85% of cases of ALL. This protein is not restricted to leukemic cells, however, and is found on a variety of normal tissues. It is a glycoprotein that is particularly abundant in kidney, where it is present on the brush border of proximal tubules and on glomerular epithelium. The protein is a neutral endopeptidase that cleaves peptides at the amino side of hydrophobic residues and inactivates several peptide hormones including glucagon, enkephalins, substance P, neurotensin, oxytocin, and bradykinin. This gene, which encodes a 100-kD type II transmembrane glycoprotein, exists in a single copy of greater than 45 kb. The 5' untranslated region of this gene is alternatively spliced, resulting in four separate mRNA transcripts. The coding region is not affected by alternative splicing.<ref>{{cite web | title = Entrez Gene: MME membrane metallo-endopeptidase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4311| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=König S, Luger TA, Scholzen TE |title=Monitoring neuropeptide-specific proteases: processing of the proopiomelanocortin peptides adrenocorticotropin and alpha-melanocyte-stimulating hormone in the skin. |journal=Exp. Dermatol. |volume=15 |issue= 10 |pages= 751-61 |year= 2006 |pmid= 16984256 |doi= 10.1111/j.1600-0625.2006.00472.x }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on NF2... {November 4, 2007 10:41:21 AM PST}
- UPLOAD: Added new Image to wiki:
{November 4, 2007 10:43:35 AM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 10:43:55 AM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_NF2_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1h4r.
| PDB = {{PDB2|1h4r}}, {{PDB2|1isn}}
| Name = Neurofibromin 2 (bilateral acoustic neuroma)
| HGNCid = 7773
| Symbol = NF2
| AltSymbols =; ACN; BANF; Merlin; SCH
| OMIM = 607379
| ECnumber =
| Homologene = 2180
| MGIid = 97307
| GeneAtlas_image1 = PBB_GE_NF2_204991_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_NF2_210767_at_tn.png
| GeneAtlas_image3 = PBB_GE_NF2_211017_s_at_tn.png
| Function = {{GNF_GO|id=GO:0005198 |text = structural molecule activity}} {{GNF_GO|id=GO:0008092 |text = cytoskeletal protein binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0005856 |text = cytoskeleton}} {{GNF_GO|id=GO:0005886 |text = plasma membrane}}
| Process = {{GNF_GO|id=GO:0007049 |text = cell cycle}} {{GNF_GO|id=GO:0007605 |text = sensory perception of sound}} {{GNF_GO|id=GO:0008285 |text = negative regulation of cell proliferation}} {{GNF_GO|id=GO:0045786 |text = negative regulation of progression through cell cycle}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 4771
| Hs_Ensembl = ENSG00000186575
| Hs_RefseqProtein = NP_000259
| Hs_RefseqmRNA = NM_000268
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 22
| Hs_GenLoc_start = 28329563
| Hs_GenLoc_end = 28424583
| Hs_Uniprot = P35240
| Mm_EntrezGene = 18016
| Mm_Ensembl = ENSMUSG00000009073
| Mm_RefseqmRNA = NM_010898
| Mm_RefseqProtein = NP_035028
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 11
| Mm_GenLoc_start = 4666474
| Mm_GenLoc_end = 4749553
| Mm_Uniprot = Q3TIW4
}}
}}
'''Neurofibromin 2 (bilateral acoustic neuroma)''', also known as '''NF2''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane. This gene product has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics and proteins involved in regulating ion transport. This gene is expressed at high levels during embryonic development; in adults, significant expression is found in Schwann cells, meningeal cells, lens and nerve. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. Two predominant isoforms and a number of minor isoforms are produced by alternatively spliced transcripts.<ref>{{cite web | title = Entrez Gene: NF2 neurofibromin 2 (bilateral acoustic neuroma)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4771| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Gusella JF, Ramesh V, MacCollin M, Jacoby LB |title=Neurofibromatosis 2: loss of merlin's protective spell. |journal=Curr. Opin. Genet. Dev. |volume=6 |issue= 1 |pages= 87-92 |year= 1997 |pmid= 8791482 |doi= }}
*{{cite journal | author=Vaheri A, Carpén O, Heiska L, ''et al.'' |title=The ezrin protein family: membrane-cytoskeleton interactions and disease associations. |journal=Curr. Opin. Cell Biol. |volume=9 |issue= 5 |pages= 659-66 |year= 1997 |pmid= 9330869 |doi= }}
*{{cite journal | author=Turunen O, Sainio M, Jääskeläinen J, ''et al.'' |title=Structure-function relationships in the ezrin family and the effect of tumor-associated point mutations in neurofibromatosis 2 protein. |journal=Biochim. Biophys. Acta |volume=1387 |issue= 1-2 |pages= 1-16 |year= 1998 |pmid= 9748471 |doi= }}
*{{cite journal | author=Sun CX, Robb VA, Gutmann DH |title=Protein 4.1 tumor suppressors: getting a FERM grip on growth regulation. |journal=J. Cell. Sci. |volume=115 |issue= Pt 21 |pages= 3991-4000 |year= 2003 |pmid= 12356905 |doi= }}
*{{cite journal | author=Xiao GH, Chernoff J, Testa JR |title=NF2: the wizardry of merlin. |journal=Genes Chromosomes Cancer |volume=38 |issue= 4 |pages= 389-99 |year= 2004 |pmid= 14566860 |doi= 10.1002/gcc.10282 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on PDGFRA... {November 4, 2007 10:43:55 AM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 10:44:38 AM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Platelet-derived growth factor receptor, alpha polypeptide
| HGNCid = 8803
| Symbol = PDGFRA
| AltSymbols =; CD140A; MGC74795; PDGFR2; Rhe-PDGFRA
| OMIM = 173490
| ECnumber =
| Homologene = 31361
| MGIid = 97530
| GeneAtlas_image1 = PBB_GE_PDGFRA_203131_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0004872 |text = receptor activity}} {{GNF_GO|id=GO:0005018 |text = platelet-derived growth factor alpha-receptor activity}} {{GNF_GO|id=GO:0005021 |text = vascular endothelial growth factor receptor activity}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0016740 |text = transferase activity}} {{GNF_GO|id=GO:0048407 |text = platelet-derived growth factor binding}}
| Component = {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0006468 |text = protein amino acid phosphorylation}} {{GNF_GO|id=GO:0007166 |text = cell surface receptor linked signal transduction}} {{GNF_GO|id=GO:0007169 |text = transmembrane receptor protein tyrosine kinase signaling pathway}} {{GNF_GO|id=GO:0008283 |text = cell proliferation}} {{GNF_GO|id=GO:0009887 |text = organ morphogenesis}} {{GNF_GO|id=GO:0030198 |text = extracellular matrix organization and biogenesis}} {{GNF_GO|id=GO:0030324 |text = lung development}} {{GNF_GO|id=GO:0030539 |text = male genitalia development}} {{GNF_GO|id=GO:0042475 |text = odontogenesis (sensu Vertebrata)}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 5156
| Hs_Ensembl = ENSG00000134853
| Hs_RefseqProtein = NP_006197
| Hs_RefseqmRNA = NM_006206
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 4
| Hs_GenLoc_start = 54790204
| Hs_GenLoc_end = 54859171
| Hs_Uniprot = P16234
| Mm_EntrezGene = 18595
| Mm_Ensembl = ENSMUSG00000029231
| Mm_RefseqmRNA = NM_011058
| Mm_RefseqProtein = NP_035188
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 5
| Mm_GenLoc_start = 75434033
| Mm_GenLoc_end = 75479895
| Mm_Uniprot = Q06BS2
}}
}}
'''Platelet-derived growth factor receptor, alpha polypeptide''', also known as '''PDGFRA''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies in knockout mice, where homozygosity is lethal, indicate that the alpha form of the platelet-derived growth factor receptor is particularly important for kidney development since mice heterozygous for the receptor exhibit defective kidney phenotypes.<ref>{{cite web | title = Entrez Gene: PDGFRA platelet-derived growth factor receptor, alpha polypeptide| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5156| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Hart CE, Bowen-Pope DF |title=Platelet-derived growth factor receptor: current views of the two-subunit model. |journal=J. Invest. Dermatol. |volume=94 |issue= 6 Suppl |pages= 53S-57S |year= 1990 |pmid= 2161888 |doi= }}
*{{cite journal | author=Corless CL, Schroeder A, Griffith D, ''et al.'' |title=PDGFRA mutations in gastrointestinal stromal tumors: frequency, spectrum and in vitro sensitivity to imatinib. |journal=J. Clin. Oncol. |volume=23 |issue= 23 |pages= 5357-64 |year= 2005 |pmid= 15928335 |doi= 10.1200/JCO.2005.14.068 }}
*{{cite journal | author=Lasota J, Miettinen M |title=KIT and PDGFRA mutations in gastrointestinal stromal tumors (GISTs). |journal=Semin Diagn Pathol |volume=23 |issue= 2 |pages= 91-102 |year= 2007 |pmid= 17193822 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on RASSF1... {November 4, 2007 10:53:26 AM PST}
- CREATE: Found no pages, creating new page. {November 4, 2007 10:54:10 AM PST}
- CREATED: Created new protein page: RASSF1 {November 4, 2007 10:54:17 AM PST}
- INFO: Beginning work on ROCK1... {November 4, 2007 10:44:38 AM PST}
- UPLOAD: Added new Image to wiki:
{November 4, 2007 10:44:53 AM PST}
- CREATE: Found no pages, creating new page. {November 4, 2007 10:45:09 AM PST}
- CREATED: Created new protein page: ROCK1 {November 4, 2007 10:45:17 AM PST}
- INFO: Beginning work on RYR1... {November 4, 2007 10:45:17 AM PST}
- UPLOAD: Added new Image to wiki:
{November 4, 2007 10:45:53 AM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 10:46:19 AM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_RYR1_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 2bcx.
| PDB = {{PDB2|2bcx}}
| Name = Ryanodine receptor 1 (skeletal)
| HGNCid = 10483
| Symbol = RYR1
| AltSymbols =; CCO; MHS; MHS1; RYDR; RYR; SKRR
| OMIM = 180901
| ECnumber =
| Homologene = 68069
| MGIid = 99659
| GeneAtlas_image1 = PBB_GE_RYR1_205485_at_tn.png
| Function = {{GNF_GO|id=GO:0004872 |text = receptor activity}} {{GNF_GO|id=GO:0005216 |text = ion channel activity}} {{GNF_GO|id=GO:0005219 |text = ryanodine-sensitive calcium-release channel activity}} {{GNF_GO|id=GO:0005509 |text = calcium ion binding}} {{GNF_GO|id=GO:0015278 |text = calcium-release channel activity}}
| Component = {{GNF_GO|id=GO:0005790 |text = smooth endoplasmic reticulum}} {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0006816 |text = calcium ion transport}} {{GNF_GO|id=GO:0006874 |text = cellular calcium ion homeostasis}} {{GNF_GO|id=GO:0006936 |text = muscle contraction}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 6261
| Hs_Ensembl = ENSG00000196218
| Hs_RefseqProtein = NP_000531
| Hs_RefseqmRNA = NM_000540
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 19
| Hs_GenLoc_start = 43616180
| Hs_GenLoc_end = 43770012
| Hs_Uniprot = P21817
| Mm_EntrezGene = 20190
| Mm_Ensembl = ENSMUSG00000030592
| Mm_RefseqmRNA = NM_009109
| Mm_RefseqProtein = NP_033135
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 7
| Mm_GenLoc_start = 28712104
| Mm_GenLoc_end = 28833911
| Mm_Uniprot =
}}
}}
'''Ryanodine receptor 1 (skeletal)''', also known as '''RYR1''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described.<ref>{{cite web | title = Entrez Gene: RYR1 ryanodine receptor 1 (skeletal)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6261| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Treves S, Anderson AA, Ducreux S, ''et al.'' |title=Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders. |journal=Neuromuscul. Disord. |volume=15 |issue= 9-10 |pages= 577-87 |year= 2005 |pmid= 16084090 |doi= 10.1016/j.nmd.2005.06.008 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on STAT5B... {November 4, 2007 10:46:19 AM PST}
- UPLOAD: Added new Image to wiki:
{November 4, 2007 10:47:33 AM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 10:47:52 AM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_STAT5B_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1y1u.
| PDB = {{PDB2|1y1u}}
| Name = Signal transducer and activator of transcription 5B
| HGNCid = 11367
| Symbol = STAT5B
| AltSymbols =; STAT5
| OMIM = 604260
| ECnumber =
| Homologene = 55718
| MGIid = 103035
| GeneAtlas_image1 = PBB_GE_STAT5B_205026_at_tn.png
| GeneAtlas_image2 = PBB_GE_STAT5B_212549_at_tn.png
| GeneAtlas_image3 = PBB_GE_STAT5B_212550_at_tn.png
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0004871 |text = signal transducer activity}} {{GNF_GO|id=GO:0005509 |text = calcium ion binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}}
| Process = {{GNF_GO|id=GO:0001553 |text = luteinization}} {{GNF_GO|id=GO:0001779 |text = natural killer cell differentiation}} {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0007242 |text = intracellular signaling cascade}} {{GNF_GO|id=GO:0007259 |text = JAK-STAT cascade}} {{GNF_GO|id=GO:0007565 |text = female pregnancy}} {{GNF_GO|id=GO:0007595 |text = lactation}} {{GNF_GO|id=GO:0008284 |text = positive regulation of cell proliferation}} {{GNF_GO|id=GO:0019218 |text = regulation of steroid metabolic process}} {{GNF_GO|id=GO:0019221 |text = cytokine and chemokine mediated signaling pathway}} {{GNF_GO|id=GO:0019915 |text = sequestering of lipid}} {{GNF_GO|id=GO:0030155 |text = regulation of cell adhesion}} {{GNF_GO|id=GO:0030856 |text = regulation of epithelial cell differentiation}} {{GNF_GO|id=GO:0040018 |text = positive regulation of body size}} {{GNF_GO|id=GO:0042104 |text = positive regulation of activated T cell proliferation}} {{GNF_GO|id=GO:0042448 |text = progesterone metabolic process}} {{GNF_GO|id=GO:0043029 |text = T cell homeostasis}} {{GNF_GO|id=GO:0043066 |text = negative regulation of apoptosis}} {{GNF_GO|id=GO:0045086 |text = positive regulation of interleukin-2 biosynthetic process}} {{GNF_GO|id=GO:0045579 |text = positive regulation of B cell differentiation}} {{GNF_GO|id=GO:0045647 |text = negative regulation of erythrocyte differentiation}} {{GNF_GO|id=GO:0045885 |text = positive regulation of survival gene product activity}} {{GNF_GO|id=GO:0045931 |text = positive regulation of progression through mitotic cell cycle}} {{GNF_GO|id=GO:0045944 |text = positive regulation of transcription from RNA polymerase II promoter}} {{GNF_GO|id=GO:0046543 |text = development of secondary female sexual characteristics}} {{GNF_GO|id=GO:0046544 |text = development of secondary male sexual characteristics}} {{GNF_GO|id=GO:0050729 |text = positive regulation of inflammatory response}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 6777
| Hs_Ensembl = ENSG00000173757
| Hs_RefseqProtein = NP_036580
| Hs_RefseqmRNA = NM_012448
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 17
| Hs_GenLoc_start = 37604722
| Hs_GenLoc_end = 37681950
| Hs_Uniprot = P51692
| Mm_EntrezGene = 20851
| Mm_Ensembl = ENSMUSG00000020919
| Mm_RefseqmRNA = NM_011489
| Mm_RefseqProtein = NP_035619
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 11
| Mm_GenLoc_start = 100596902
| Mm_GenLoc_end = 100666816
| Mm_Uniprot = Q9R0X8
}}
}}
'''Signal transducer and activator of transcription 5B''', also known as '''STAT5B''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein mediates the signal transduction triggered by various cell ligands, such as IL2, IL4, CSF1, and different growth hormones. It has been shown to be involved in diverse biological processes, such as TCR signaling, apoptosis, adult mammary gland development, and sexual dimorphism of liver gene expression. This gene was found to fuse to retinoic acid receptor-alpha (RARA) gene in a small subset of acute promyelocytic leukemias (APLL). The dysregulation of the signaling pathways mediated by this protein may be the cause of the APLL.<ref>{{cite web | title = Entrez Gene: STAT5B signal transducer and activator of transcription 5B| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6777| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Kisseleva T, Bhattacharya S, Braunstein J, Schindler CW |title=Signaling through the JAK/STAT pathway, recent advances and future challenges. |journal=Gene |volume=285 |issue= 1-2 |pages= 1-24 |year= 2002 |pmid= 12039028 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on TGFBI... {November 4, 2007 10:47:52 AM PST}
- UPLOAD: Added new Image to wiki:
{November 4, 2007 10:48:28 AM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 10:49:03 AM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_TGFBI_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1x3b.
| PDB = {{PDB2|1x3b}}
| Name = Transforming growth factor, beta-induced, 68kDa
| HGNCid = 11771
| Symbol = TGFBI
| AltSymbols =; BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2; CSD3; EBMD; LCD1
| OMIM = 601692
| ECnumber =
| Homologene = 37294
| MGIid = 99959
| GeneAtlas_image1 = PBB_GE_TGFBI_201506_at_tn.png
| Function = {{GNF_GO|id=GO:0005178 |text = integrin binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005578 |text = proteinaceous extracellular matrix}} {{GNF_GO|id=GO:0005615 |text = extracellular space}}
| Process = {{GNF_GO|id=GO:0007155 |text = cell adhesion}} {{GNF_GO|id=GO:0007162 |text = negative regulation of cell adhesion}} {{GNF_GO|id=GO:0007601 |text = visual perception}} {{GNF_GO|id=GO:0008283 |text = cell proliferation}} {{GNF_GO|id=GO:0050896 |text = response to stimulus}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 7045
| Hs_Ensembl = ENSG00000120708
| Hs_RefseqProtein = NP_000349
| Hs_RefseqmRNA = NM_000358
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 5
| Hs_GenLoc_start = 135392644
| Hs_GenLoc_end = 135427253
| Hs_Uniprot = Q15582
| Mm_EntrezGene = 21810
| Mm_Ensembl = ENSMUSG00000035493
| Mm_RefseqmRNA = NM_009369
| Mm_RefseqProtein = NP_033395
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 13
| Mm_GenLoc_start = 56619208
| Mm_GenLoc_end = 56648972
| Mm_Uniprot = Q19PV3
}}
}}
'''Transforming growth factor, beta-induced, 68kDa''', also known as '''TGFBI''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text =
}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Fujiki K, Nakayasu K, Kanai A |title=Corneal dystrophies in Japan. |journal=J. Hum. Genet. |volume=46 |issue= 8 |pages= 431-5 |year= 2001 |pmid= 11501939 |doi= }}
*{{cite journal | author=Schmitt-Bernard CF, Pouliquen Y, Argilès A |title=[BIG-H3 protein: mutation of codon 124 and corneal amyloidosis] |journal=Journal français d'ophtalmologie |volume=27 |issue= 5 |pages= 510-22 |year= 2004 |pmid= 15179309 |doi= }}
*{{cite journal | author=Pieramici SF, Afshari NA |title=Genetics of corneal dystrophies: the evolving landscape. |journal=Current opinion in ophthalmology |volume=17 |issue= 4 |pages= 361-6 |year= 2006 |pmid= 16900028 |doi= 10.1097/01.icu.0000233955.94347.84 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on TGM2... {November 4, 2007 10:49:03 AM PST}
- UPLOAD: Added new Image to wiki:
{November 4, 2007 10:50:18 AM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 10:50:33 AM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_TGM2_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1kv3.
| PDB = {{PDB2|1kv3}}
| Name = Transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)
| HGNCid = 11778
| Symbol = TGM2
| AltSymbols =; TG2; TGC
| OMIM = 190196
| ECnumber =
| Homologene = 3391
| MGIid = 98731
| GeneAtlas_image1 = PBB_GE_TGM2_201042_at_tn.png
| GeneAtlas_image2 = PBB_GE_TGM2_211003_x_at_tn.png
| GeneAtlas_image3 = PBB_GE_TGM2_211573_x_at_tn.png
| Function = {{GNF_GO|id=GO:0003810 |text = protein-glutamine gamma-glutamyltransferase activity}} {{GNF_GO|id=GO:0005509 |text = calcium ion binding}} {{GNF_GO|id=GO:0005525 |text = GTP binding}} {{GNF_GO|id=GO:0008415 |text = acyltransferase activity}} {{GNF_GO|id=GO:0016740 |text = transferase activity}}
| Component = {{GNF_GO|id=GO:0005578 |text = proteinaceous extracellular matrix}} {{GNF_GO|id=GO:0005829 |text = cytosol}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0007186 |text = G-protein coupled receptor protein signaling pathway}} {{GNF_GO|id=GO:0018149 |text = peptide cross-linking}} {{GNF_GO|id=GO:0045785 |text = positive regulation of cell adhesion}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 7052
| Hs_Ensembl = ENSG00000198959
| Hs_RefseqProtein = NP_004604
| Hs_RefseqmRNA = NM_004613
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 20
| Hs_GenLoc_start = 36190280
| Hs_GenLoc_end = 36227114
| Hs_Uniprot = P21980
| Mm_EntrezGene = 21817
| Mm_Ensembl = ENSMUSG00000037820
| Mm_RefseqmRNA = NM_009373
| Mm_RefseqProtein = NP_033399
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 2
| Mm_GenLoc_start = 157807843
| Mm_GenLoc_end = 157837877
| Mm_Uniprot = Q3TLV2
}}
}}
'''Transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)''', also known as '''TGM2''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene acts as a monomer, is induced by retinoic acid, and appears to be involved in apoptosis. Finally, the encoded protein is the autoantigen implicated in celiac disease. Two transcript variants encoding different isoforms have been found for this gene.<ref>{{cite web | title = Entrez Gene: TGM2 transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7052| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Amendola A, Rodolfo C, Di Caro A, ''et al.'' |title="Tissue" transglutaminase expression in HIV-infected cells: an enzyme with an antiviral effect? |journal=Ann. N. Y. Acad. Sci. |volume=946 |issue= |pages= 108-20 |year= 2002 |pmid= 11762979 |doi= }}
*{{cite journal | author=Fesus L, Piacentini M |title=Transglutaminase 2: an enigmatic enzyme with diverse functions. |journal=Trends Biochem. Sci. |volume=27 |issue= 10 |pages= 534-9 |year= 2002 |pmid= 12368090 |doi= }}
*{{cite journal | author=Esposito C, Caputo I, Auricchio S, Troncone R |title=Tissue transglutaminase and celiac disease. |journal=Progress in experimental tumor research. Fortschritte der experimentellen Tumorforschung. Progrès de la recherche expérimentale des tumeurs |volume=38 |issue= |pages= 158-73 |year= 2005 |pmid= 15746535 |doi= 10.1159/000084239 }}
*{{cite journal | author=Jeon JH, Kim IG |title=Role of protein modifications mediated by transglutaminase 2 in human viral diseases. |journal=Front. Biosci. |volume=11 |issue= |pages= 221-31 |year= 2006 |pmid= 16146727 |doi= }}
*{{cite journal | author=Telci D, Griffin M |title=Tissue transglutaminase (TG2)--a wound response enzyme. |journal=Front. Biosci. |volume=11 |issue= |pages= 867-82 |year= 2006 |pmid= 16146777 |doi= }}
*{{cite journal | author=Facchiano F, Facchiano A, Facchiano AM |title=The role of transglutaminase-2 and its substrates in human diseases. |journal=Front. Biosci. |volume=11 |issue= |pages= 1758-73 |year= 2006 |pmid= 16368554 |doi= }}
*{{cite journal | author=Xu L, Hynes RO |title=GPR56 and TG2: possible roles in suppression of tumor growth by the microenvironment. |journal=Cell Cycle |volume=6 |issue= 2 |pages= 160-5 |year= 2007 |pmid= 17314516 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on THRB... {November 4, 2007 10:50:33 AM PST}
- UPLOAD: Added new Image to wiki:
{November 4, 2007 10:51:34 AM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 10:52:04 AM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_THRB_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1bsx.
| PDB = {{PDB2|1bsx}}, {{PDB2|1n46}}, {{PDB2|1nax}}, {{PDB2|1nq0}}, {{PDB2|1nq1}}, {{PDB2|1nq2}}, {{PDB2|1nuo}}, {{PDB2|1q4x}}, {{PDB2|1r6g}}, {{PDB2|1xzx}}, {{PDB2|1y0x}}, {{PDB2|2h6w}}, {{PDB2|2nll}}
| Name = Thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)
| HGNCid = 11799
| Symbol = THRB
| AltSymbols =; ERBA-BETA; ERBA2; GRTH; MGC126109; MGC126110; NR1A2; THR1; THRB1; THRB2
| OMIM = 190160
| ECnumber =
| Homologene = 36025
| MGIid = 98743
| GeneAtlas_image1 = PBB_GE_THRB_207044_at_tn.png
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0003707 |text = steroid hormone receptor activity}} {{GNF_GO|id=GO:0003714 |text = transcription corepressor activity}} {{GNF_GO|id=GO:0004887 |text = thyroid hormone receptor activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0008270 |text = zinc ion binding}} {{GNF_GO|id=GO:0043565 |text = sequence-specific DNA binding}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0007605 |text = sensory perception of sound}} {{GNF_GO|id=GO:0008016 |text = regulation of heart contraction}} {{GNF_GO|id=GO:0009887 |text = organ morphogenesis}} {{GNF_GO|id=GO:0016481 |text = negative regulation of transcription}} {{GNF_GO|id=GO:0045944 |text = positive regulation of transcription from RNA polymerase II promoter}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 7068
| Hs_Ensembl = ENSG00000151090
| Hs_RefseqProtein = NP_000452
| Hs_RefseqmRNA = NM_000461
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 3
| Hs_GenLoc_start = 24134709
| Hs_GenLoc_end = 24511317
| Hs_Uniprot = P10828
| Mm_EntrezGene = 21834
| Mm_Ensembl = ENSMUSG00000021779
| Mm_RefseqmRNA = NM_009380
| Mm_RefseqProtein = NP_033406
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 14
| Mm_GenLoc_start = 16756327
| Mm_GenLoc_end = 16827040
| Mm_Uniprot = Q0VDR8
}}
}}
'''Thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)''', also known as '''THRB''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Defects in this gene are known to be a cause of generalized thyroid hormone resistance (GTHR), a syndrome characterized by goiter and high levels of circulating thyroid hormone (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH). Several transcript variants have been observed for this gene, but the full-length nature of only one has been determined so far.<ref>{{cite web | title = Entrez Gene: THRB thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7068| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Lazar MA, Chin WW |title=Nuclear thyroid hormone receptors. |journal=J. Clin. Invest. |volume=86 |issue= 6 |pages= 1777-82 |year= 1991 |pmid= 2254444 |doi= }}
*{{cite journal | author=Forrest D, Reh TA, Rüsch A |title=Neurodevelopmental control by thyroid hormone receptors. |journal=Curr. Opin. Neurobiol. |volume=12 |issue= 1 |pages= 49-56 |year= 2002 |pmid= 11861164 |doi= }}
*{{cite journal | author=González-Sancho JM, García V, Bonilla F, Muñoz A |title=Thyroid hormone receptors/THR genes in human cancer. |journal=Cancer Lett. |volume=192 |issue= 2 |pages= 121-32 |year= 2003 |pmid= 12668276 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on TTN... {November 4, 2007 10:52:05 AM PST}
- UPLOAD: Added new Image to wiki:
{November 4, 2007 10:52:42 AM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 4, 2007 10:53:25 AM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_TTN_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1bpv.
| PDB = {{PDB2|1bpv}}, {{PDB2|1g1c}}, {{PDB2|1h8b}}, {{PDB2|1nct}}, {{PDB2|1ncu}}, {{PDB2|1tit}}, {{PDB2|1tiu}}, {{PDB2|1tki}}, {{PDB2|1tnm}}, {{PDB2|1tnn}}, {{PDB2|1waa}}, {{PDB2|1ya5}}, {{PDB2|2a38}}, {{PDB2|2bk8}}, {{PDB2|2f8v}}, {{PDB2|2ill}}, {{PDB2|2nzi}}
| Name = Titin
| HGNCid = 12403
| Symbol = TTN
| AltSymbols =; CMD1G; CMH9; CMPD4; DKFZp451N061; FLJ26020; FLJ26409; FLJ32040; FLJ34413; FLJ39564; FLJ43066; HMERF; LGMD2J; TMD
| OMIM = 188840
| ECnumber =
| Homologene = 26418
| MGIid = 98864
| GeneAtlas_image1 = PBB_GE_TTN_208195_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0004601 |text = peroxidase activity}} {{GNF_GO|id=GO:0004674 |text = protein serine/threonine kinase activity}} {{GNF_GO|id=GO:0004713 |text = protein-tyrosine kinase activity}} {{GNF_GO|id=GO:0004872 |text = receptor activity}} {{GNF_GO|id=GO:0005199 |text = structural constituent of cell wall}} {{GNF_GO|id=GO:0005516 |text = calmodulin binding}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0008307 |text = structural constituent of muscle}} {{GNF_GO|id=GO:0016740 |text = transferase activity}} {{GNF_GO|id=GO:0017022 |text = myosin binding}} {{GNF_GO|id=GO:0042802 |text = identical protein binding}} {{GNF_GO|id=GO:0051393 |text = alpha-actinin binding}}
| Component = {{GNF_GO|id=GO:0000794 |text = condensed nuclear chromosome}} {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0030018 |text = Z disc}}
| Process = {{GNF_GO|id=GO:0005975 |text = carbohydrate metabolic process}} {{GNF_GO|id=GO:0006468 |text = protein amino acid phosphorylation}} {{GNF_GO|id=GO:0006941 |text = striated muscle contraction}} {{GNF_GO|id=GO:0006979 |text = response to oxidative stress}} {{GNF_GO|id=GO:0007067 |text = mitosis}} {{GNF_GO|id=GO:0030239 |text = myofibril assembly}} {{GNF_GO|id=GO:0046777 |text = protein amino acid autophosphorylation}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 7273
| Hs_Ensembl = ENSG00000155657
| Hs_RefseqProtein = NP_003310
| Hs_RefseqmRNA = NM_003319
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 2
| Hs_GenLoc_start = 179099985
| Hs_GenLoc_end = 179380394
| Hs_Uniprot = Q8WZ42
| Mm_EntrezGene = 22138
| Mm_Ensembl = ENSMUSG00000051747
| Mm_RefseqmRNA = NM_011652
| Mm_RefseqProtein = NP_035782
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 2
| Mm_GenLoc_start = 76514471
| Mm_GenLoc_end = 76641992
| Mm_Uniprot =
}}
}}
'''Titin''', also known as '''TTN''', is a human [[gene]].
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| summary_text = This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. A N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere respectively so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Of the many titin variants identified, five for which complete transcript information is available are described. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9 and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma.<ref>{{cite web | title = Entrez Gene: TTN titin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7273| accessdate = }}</ref>
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==References==
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==Further reading==
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| citations =
*{{cite journal | author=Kinbara K, Sorimachi H, Ishiura S, Suzuki K |title=Skeletal muscle-specific calpain, p49: structure and physiological function. |journal=Biochem. Pharmacol. |volume=56 |issue= 4 |pages= 415-20 |year= 1998 |pmid= 9763216 |doi= }}
*{{cite journal | author=Kolmerer B, Witt CC, Freiburg A, ''et al.'' |title=The titin cDNA sequence and partial genomic sequences: insights into the molecular genetics, cell biology and physiology of the titin filament system. |journal=Rev. Physiol. Biochem. Pharmacol. |volume=138 |issue= |pages= 19-55 |year= 1999 |pmid= 10396137 |doi= }}
*{{cite journal | author=Trinick J, Tskhovrebova L |title=Titin: a molecular control freak. |journal=Trends Cell Biol. |volume=9 |issue= 10 |pages= 377-80 |year= 1999 |pmid= 10481174 |doi= }}
*{{cite journal | author=Sorimachi H, Ono Y, Suzuki K |title=Skeletal muscle-specific calpain, p94, and connectin/titin: their physiological functions and relationship to limb-girdle muscular dystrophy type 2A. |journal=Adv. Exp. Med. Biol. |volume=481 |issue= |pages= 383-95; discussion 395-7 |year= 2000 |pmid= 10987085 |doi= }}
*{{cite journal | author=Tskhovrebova L, Trinick J |title=Role of titin in vertebrate striated muscle. |journal=Philos. Trans. R. Soc. Lond., B, Biol. Sci. |volume=357 |issue= 1418 |pages= 199-206 |year= 2002 |pmid= 11911777 |doi= 10.1098/rstb.2001.1028 }}
*{{cite journal | author=Sela BA |title=[Titin: some aspects of the largest protein in the body] |journal=Harefuah |volume=141 |issue= 7 |pages= 631-5, 665 |year= 2002 |pmid= 12187564 |doi= }}
*{{cite journal | author=Wu Y, Labeit S, Lewinter MM, Granzier H |title=Titin: an endosarcomeric protein that modulates myocardial stiffness in DCM. |journal=J. Card. Fail. |volume=8 |issue= 6 Suppl |pages= S276-86 |year= 2003 |pmid= 12555133 |doi= 10.1054/jcaf.2002.129278 }}
*{{cite journal | author=Tskhovrebova L, Trinick J |title=Properties of titin immunoglobulin and fibronectin-3 domains. |journal=J. Biol. Chem. |volume=279 |issue= 45 |pages= 46351-4 |year= 2004 |pmid= 15322090 |doi= 10.1074/jbc.R400023200 }}
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