SYMPK
| Symplekin | |||||||||||||
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 Rendering based on PDB 3O2Q. | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | SYMPK ; SPK; SYM | ||||||||||||
| External IDs | OMIM: 602388 MGI: 1915438 HomoloGene: 37969 GeneCards: SYMPK Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 8189 | 68188 | |||||||||||
| Ensembl | ENSG00000125755 | ENSMUSG00000023118 | |||||||||||
| UniProt | Q92797 | Q80X82 | |||||||||||
| RefSeq (mRNA) | NM_004819 | NM_026605 | |||||||||||
| RefSeq (protein) | NP_004810 | NP_080881 | |||||||||||
| Location (UCSC) | Chr 19: 45.82 – 45.86 Mb | Chr 7: 19.02 – 19.05 Mb | |||||||||||
| PubMed search | |||||||||||||
Symplekin is a protein that in humans is encoded by the SYMPK gene.[1][2] This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also participates in 3'-end maturation of histone mRNAs, which do not undergo polyadenylation. The protein also localizes to the cytoplasmic plaques of tight junctions in some cell types.[2]
Model organisms
| Characteristic | Phenotype |
|---|---|
| Homozygote viability | Abnormal |
| Recessive lethal study | Abnormal |
| Fertility | Normal |
| Body weight | Normal |
| Anxiety | Normal |
| Neurological assessment | Normal |
| Grip strength | Normal |
| Hot plate | Normal |
| Dysmorphology | Normal |
| Indirect calorimetry | Normal |
| Glucose tolerance test | Normal |
| Auditory brainstem response | Normal |
| DEXA | Normal |
| Radiography | Normal |
| Body temperature | Normal |
| Eye morphology | Normal |
| Clinical chemistry | Normal |
| Plasma immunoglobulins | Normal |
| Haematology | Normal |
| Peripheral blood lymphocytes | Normal |
| Micronucleus test | Normal |
| Heart weight | Normal |
| Brain histopathology | Normal |
| Salmonella infection | Normal[3] |
| Citrobacter infection | Normal[4] |
| All tests and analysis from[5][6] |
Model organisms have been used in the study of SYMPK function. A conditional knockout mouse line, called Sympktm1a(EUCOMM)Wtsi[7][8] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[9][10][11]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[5][12] Twenty five tests were carried out on mutant mice and two significant abnormalities were observed.[5] No homozygous mutant embryos were identified during gestation, and thus none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice; no additional significant abnormalities were observed in these animals.[5]
Interactions
SYMPK has been shown to interact with CSTF2[13] and HSF1.[14]
References
- ↑ Ueki K, Ramaswamy S, Billings SJ, Mohrenweiser HW, Louis DN (October 1997). "Chromosomal localization to 19q13.3, partial genomic structure and 5' cDNA sequence of the human symplekin gene". Somat Cell Mol Genet 23 (3): 229–31. doi:10.1007/BF02721375. PMID 9330635.
- ↑ 2.0 2.1 "Entrez Gene: SYMPK symplekin".
- ↑ "Salmonella infection data for Sympk". Wellcome Trust Sanger Institute.
- ↑ "Citrobacter infection data for Sympk". Wellcome Trust Sanger Institute.
- ↑ 5.0 5.1 5.2 5.3 Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
- ↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
- ↑ "International Knockout Mouse Consortium".
- ↑ "Mouse Genome Informatics".
- ↑ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
- ↑ Dolgin E (2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
- ↑ Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
- ↑ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.
- ↑ Takagaki, Y; Manley J L (March 2000). "Complex protein interactions within the human polyadenylation machinery identify a novel component". Mol. Cell. Biol. (UNITED STATES) 20 (5): 1515–25. doi:10.1128/MCB.20.5.1515-1525.2000. ISSN 0270-7306. PMC 85326. PMID 10669729.
- ↑ Xing, Hongyan; Mayhew Christopher N, Cullen Katherine E, Park-Sarge Ok-Kyong, Sarge Kevin D (March 2004). "HSF1 modulation of Hsp70 mRNA polyadenylation via interaction with symplekin". J. Biol. Chem. (United States) 279 (11): 10551–5. doi:10.1074/jbc.M311719200. ISSN 0021-9258. PMID 14707147.
Further reading
- Keon BH, Schäfer S, Kuhn C et al. (1996). "Symplekin, a novel type of tight junction plaque protein.". J. Cell Biol. 134 (4): 1003–18. doi:10.1083/jcb.134.4.1003. PMC 2120966. PMID 8769423.
- Alwazzan M, Hamshere MG, Lennon GG, Brook JD (1998). "Six transcripts map within 200 kilobases of the myotonic dystrophy expanded repeat.". Mamm. Genome 9 (6): 485–7. doi:10.1007/s003359900804. PMID 9585442.
- Faber PW, Barnes GT, Srinidhi J et al. (1998). "Huntingtin interacts with a family of WW domain proteins.". Hum. Mol. Genet. 7 (9): 1463–74. doi:10.1093/hmg/7.9.1463. PMID 9700202.
- Paffenholz R, Kuhn C, Grund C et al. (1999). "The arm-repeat protein NPRAP (neurojungin) is a constituent of the plaques of the outer limiting zone in the retina, defining a novel type of adhering junction.". Exp. Cell Res. 250 (2): 452–64. doi:10.1006/excr.1999.4534. PMID 10413599.
- Takagaki Y, Manley JL (2000). "Complex protein interactions within the human polyadenylation machinery identify a novel component.". Mol. Cell. Biol. 20 (5): 1515–25. doi:10.1128/MCB.20.5.1515-1525.2000. PMC 85326. PMID 10669729.
- Venter JC, Adams MD, Myers EW et al. (2001). "The sequence of the human genome.". Science 291 (5507): 1304–51. doi:10.1126/science.1058040. PMID 11181995.
- Strausberg RL, Feingold EA, Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Langbein L, Pape UF, Grund C et al. (2004). "Tight junction-related structures in the absence of a lumen: occludin, claudins and tight junction plaque proteins in densely packed cell formations of stratified epithelia and squamous cell carcinomas.". Eur. J. Cell Biol. 82 (8): 385–400. doi:10.1078/0171-9335-00330. PMID 14533737.
- Xing H, Mayhew CN, Cullen KE et al. (2004). "HSF1 modulation of Hsp70 mRNA polyadenylation via interaction with symplekin.". J. Biol. Chem. 279 (11): 10551–5. doi:10.1074/jbc.M311719200. PMID 14707147.
- Beausoleil SA, Jedrychowski M, Schwartz D et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins.". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
- Gerhard DS, Wagner L, Feingold EA et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Barnard DC, Ryan K, Manley JL, Richter JD (2005). "Symplekin and xGLD-2 are required for CPEB-mediated cytoplasmic polyadenylation.". Cell 119 (5): 641–51. doi:10.1016/j.cell.2004.10.029. PMID 15550246.
- Kolev NG, Steitz JA (2006). "Symplekin and multiple other polyadenylation factors participate in 3'-end maturation of histone mRNAs.". Genes Dev. 19 (21): 2583–92. doi:10.1101/gad.1371105. PMC 1276732. PMID 16230528.
- Kimura K, Wakamatsu A, Suzuki Y et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
- Kavanagh E, Buchert M, Tsapara A et al. (2007). "Functional interaction between the ZO-1-interacting transcription factor ZONAB/DbpA and the RNA processing factor symplekin.". J. Cell. Sci. 119 (Pt 24): 5098–105. doi:10.1242/jcs.03297. PMID 17158914.