GP1BB
From Wikipedia, the free encyclopedia
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Glycoprotein Ib (platelet), beta polypeptide
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| Identifiers | ||||||||||||||
| Symbol(s) | GP1BB; CD42c | |||||||||||||
| External IDs | OMIM: 138720 MGI: 107852 HomoloGene: 30972 | |||||||||||||
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| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 2812 | 14724 | ||||||||||||
| Ensembl | n/a | ENSMUSG00000050761 | ||||||||||||
| Uniprot | n/a | P56400 | ||||||||||||
| Refseq | NM_000407 (mRNA) NP_000398 (protein) |
NM_001001999 (mRNA) NP_001001999 (protein) |
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| Location | n/a | Chr 16: 18.53 - 18.53 Mb | ||||||||||||
| Pubmed search | [1] | [2] | ||||||||||||
Glycoprotein Ib (platelet), beta polypeptide (GP1BB) also known as CD42c (Cluster of Differentiation 42c), is a human gene.[1]
Platelet glycoprotein Ib (GPIb) is a heterodimeric transmembrane protein consisting of a disulfide-linked 140 kD alpha chain and 22 kD beta chain. It is part of the GPIb-V-IX system that constitutes the receptor for von Willebrand factor (VWF), and mediates platelet adhesion in the arterial circulation. GPIb alpha chain provides the VWF binding site, and GPIb beta contributes to surface expression of the receptor and participates in transmembrane signaling through phosphorylation of its intracellular domain. Mutations in the GPIb beta subunit have been associated with Bernard-Soulier syndrome, velocardiofacial syndrome and giant platelet disorder. The 206 amino acid precursor of GPIb beta is synthesized from a 1.0 kb mRNA expressed in plateletes and megakaryocytes. A 411 amino acid protein arising from a longer, unspliced transcript in endothelial cells has been described; however, the authenticity of this product has been questioned. Yet another less abundant GPIb beta mRNA species of 3.5 kb, expressed in nonhematopoietic tissues such as endothelium, brain and heart, was shown to result from inefficient usage of a non-consensus polyA signal within a separate gene (septin 5) located upstream of this gene. In the absence of polyadenylation from its own imperfect site, the septin 5 gene uses the consensus polyA signal of this gene.[1]
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[edit] See also
[edit] References
[edit] Further reading
- Kunishima S, Kamiya T, Saito H (2003). "Genetic abnormalities of Bernard-Soulier syndrome.". Int. J. Hematol. 76 (4): 319–27. PMID 12463594.
- Clemetson KJ (2007). "A short history of platelet glycoprotein Ib complex.". Thromb. Haemost. 98 (1): 63–8. PMID 17597992.
- Wardell MR, Reynolds CC, Berndt MC, et al. (1989). "Platelet glycoprotein Ib beta is phosphorylated on serine 166 by cyclic AMP-dependent protein kinase.". J. Biol. Chem. 264 (26): 15656–61. PMID 2504723.
- Andrews RK, Booth WJ, Gorman JJ, et al. (1990). "Purification of botrocetin from Bothrops jararaca venom. Analysis of the botrocetin-mediated interaction between von Willebrand factor and the human platelet membrane glycoprotein Ib-IX complex.". Biochemistry 28 (21): 8317–26. PMID 2557900.
- Berndt MC, Gregory C, Kabral A, et al. (1985). "Purification and preliminary characterization of the glycoprotein Ib complex in the human platelet membrane.". Eur. J. Biochem. 151 (3): 637–49. PMID 3161731.
- Lopez JA, Chung DW, Fujikawa K, et al. (1988). "The alpha and beta chains of human platelet glycoprotein Ib are both transmembrane proteins containing a leucine-rich amino acid sequence.". Proc. Natl. Acad. Sci. U.S.A. 85 (7): 2135–9. PMID 3353370.
- Canfield VA, Ozols J, Nugent D, Roth GJ (1987). "Isolation and characterization of the alpha and beta chains of human platelet glycoprotein Ib.". Biochem. Biophys. Res. Commun. 147 (2): 526–34. PMID 3632685.
- Hickey MJ, Hagen FS, Yagi M, Roth GJ (1993). "Human platelet glycoprotein V: characterization of the polypeptide and the related Ib-V-IX receptor system of adhesive, leucine-rich glycoproteins.". Proc. Natl. Acad. Sci. U.S.A. 90 (18): 8327–31. PMID 7690959.
- Meyer SC, Fox JE (1995). "Interaction of platelet glycoprotein V with glycoprotein Ib-IX regulates expression of the glycoproteins and binding of von Willebrand factor to glycoprotein Ib-IX in transfected cells.". J. Biol. Chem. 270 (24): 14693–9. PMID 7782333.
- Yagi M, Edelhoff S, Disteche CM, Roth GJ (1994). "Structural characterization and chromosomal location of the gene encoding human platelet glycoprotein Ib beta.". J. Biol. Chem. 269 (26): 17424–7. PMID 8021244.
- Du X, Harris SJ, Tetaz TJ, et al. (1994). "Association of a phospholipase A2 (14-3-3 protein) with the platelet glycoprotein Ib-IX complex.". J. Biol. Chem. 269 (28): 18287–90. PMID 8034572.
- Kelly MD, Essex DW, Shapiro SS, et al. (1994). "Complementary DNA cloning of the alternatively expressed endothelial cell glycoprotein Ib beta (GPIb beta) and localization of the GPIb beta gene to chromosome 22.". J. Clin. Invest. 93 (6): 2417–24. PMID 8200976.
- Ludlow LB, Schick BP, Budarf ML, et al. (1996). "Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome.". J. Biol. Chem. 271 (36): 22076–80. PMID 8703016.
- Zieger B, Hashimoto Y, Ware J (1997). "Alternative expression of platelet glycoprotein Ib(beta) mRNA from an adjacent 5' gene with an imperfect polyadenylation signal sequence.". J. Clin. Invest. 99 (3): 520–5. PMID 9022087.
- Kunishima S, Lopez JA, Kobayashi S, et al. (1997). "Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder.". Blood 89 (7): 2404–12. PMID 9116284.
- Andrews RK, Harris SJ, McNally T, Berndt MC (1998). "Binding of purified 14-3-3 zeta signaling protein to discrete amino acid sequences within the cytoplasmic domain of the platelet membrane glycoprotein Ib-IX-V complex.". Biochemistry 37 (2): 638–47. doi:. PMID 9425086.
- Longhurst CM, White MM, Wilkinson DA, Jennings LK (1999). "A CD9, alphaIIbbeta3, integrin-associated protein, and GPIb/V/IX complex on the surface of human platelets is influenced by alphaIIbbeta3 conformational states.". Eur. J. Biochem. 263 (1): 104–11. PMID 10429193.
- Feng S, Christodoulides N, Reséndiz JC, et al. (2000). "Cytoplasmic domains of GpIbalpha and GpIbbeta regulate 14-3-3zeta binding to GpIb/IX/V.". Blood 95 (2): 551–7. PMID 10627461.
- Moran N, Morateck PA, Deering A, et al. (2000). "Surface expression of glycoprotein ib alpha is dependent on glycoprotein ib beta: evidence from a novel mutation causing Bernard-Soulier syndrome.". Blood 96 (2): 532–9. PMID 10887115.
- Kasirer-Friede A, Ware J, Leng L, et al. (2002). "Lateral clustering of platelet GP Ib-IX complexes leads to up-regulation of the adhesive function of integrin alpha IIbbeta 3.". J. Biol. Chem. 277 (14): 11949–56. doi:. PMID 11812775.
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