WASHC5
| WASHC5 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | WASHC5, RTSC, SPG8, RTSC1, KIAA0196, WASH complex subunit 5 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 610657; MGI: 2146110; HomoloGene: 8898; GeneCards: WASHC5; OMA:WASHC5 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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WASHC5 (also known as KIAA0196 and strumpellin) is a human gene.[5] The product is a protein that is a component of the WASH complex, which regulates actin assembly on intracellular vesicles.[6] Mutations in KIAA0196 are implicated in some forms of hereditary spastic paraplegia.[7]
References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000164961 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000022350 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Entrez Gene: KIAA0196 KIAA0196".
- ↑ Seaman MN, Gautreau A, Billadeau DD (November 2013). "Retromer-mediated endosomal protein sorting: all WASHed up!". Trends in Cell Biology. 23 (11): 522–528. doi:10.1016/j.tcb.2013.04.010. PMC 3924425. PMID 23721880.
- ↑ Jahic A, Khundadze M, Jaenisch N, Schüle R, Klimpe S, Klebe S, et al. (November 2015). "The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8". Orphanet Journal of Rare Diseases. 10 (1) 147. doi:10.1186/s13023-015-0359-x. PMC 4647479. PMID 26572744.
External links
[edit]Further reading
[edit]- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Tanaka A, Nomura N, Nagase T, Seki N, Ishikawa K (February 1996). "Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1". DNA Research. 3 (1): 17–24. doi:10.1093/dnares/3.1.17. PMID 8724849.
- Suyama A, Sugano S, Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Zhao X, Williamson J, Otterud B, Leppert M, Fink J, Hedera P, et al. (February 1999). "Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q". American Journal of Human Genetics. 64 (2): 563–569. doi:10.1086/302258. PMC 1377766. PMID 9973294.
- Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, et al. (December 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proceedings of the National Academy of Sciences of the United States of America. 99 (26): 16899–16903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Van Damme J, Staes A, Thomas GR, Vandekerckhove J, Gevaert K, Goethals M, et al. (May 2003). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nature Biotechnology. 21 (5): 566–569. doi:10.1038/nbt810. PMID 12665801. S2CID 23783563.
- Porkka KP, Tammela TL, Vessella RL, Visakorpi T (2004). "RAD21 and KIAA0196 at 8q24 are amplified and overexpressed in prostate cancer". Genes, Chromosomes & Cancer. 39 (1): 1–10. doi:10.1002/gcc.10289. PMID 14603436. S2CID 46570803.
- Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, et al. (October 2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Research. 14 (10B): 2121–2127. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, et al. (January 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
- Lei A, MacLeod P, Schlesinger D, Zatz M, Reid E, Dion PA, et al. (January 2007). "Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia". American Journal of Human Genetics. 80 (1): 152–161. doi:10.1086/510782. PMC 1785307. PMID 17160902.
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