From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
KIAA0196 (also known as 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]
^ a b c GRCh38: Ensembl release 89: ENSG00000164961 – Ensembl , May 2017
^ a b c 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, Matthew N. J.; Gautreau, Alexis; Billadeau, Daniel D. (2013-11-01). "Retromer-mediated endosomal protein sorting: all WASHed up!" . Trends in Cell Biology . 23 (11): 522–528. doi :10.1016/j.tcb.2013.04.010 . ISSN 1879-3088 . PMC 3924425 . PMID 23721880 .
^ Jahic, Amir; Khundadze, Mukhran; Jaenisch, Nadine; Schüle, Rebecca; Klimpe, Sven; Klebe, Stephan; Frahm, Christiane; Kassubek, Jan; Stevanin, Giovanni (2015-11-16). "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 . ISSN 1750-1172 . PMC 4647479 . PMID 26572744 .
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Nagase T, Seki N, Ishikawa K, et al. (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 Res . 3 (1): 17–24. doi :10.1093/dnares/3.1.17 . PMID 8724849 .
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Hedera P, Rainier S, Alvarado D, et al. (1999). "Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q" . Am. J. Hum. Genet . 64 (2): 563–569. doi :10.1086/302258 . PMC 1377766 . PMID 9973294 .
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): 16899–16903. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 . PMC 139241 . PMID 12477932 .
Gevaert K, Goethals M, Martens L, et al. (2004). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nat. Biotechnol . 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 .
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): 2121–2127. doi :10.1101/gr.2596504 . PMC 528928 . PMID 15489334 .
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 .
Valdmanis PN, Meijer IA, Reynolds A, et al. (2007). "Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia" . Am. J. Hum. Genet . 80 (1): 152–161. doi :10.1086/510782 . PMC 1785307 . PMID 17160902 .