KIAA0196

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]

WASHC5
Identifiers
Aliases	WASHC5, RTSC, SPG8, RTSC1, KIAA0196, WASH complex subunit 5
External IDs	OMIM: 610657 MGI: 2146110 HomoloGene: 8898 GeneCards: WASHC5
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8q24.13 Start 125,024,260 bp[1] End 125,091,819 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15|15 D1 Start 59,331,997 bp[2] End 59,374,167 bp[2]
Gene ontology Molecular function • GO:0001948 protein binding Cellular component • cytoplasm • cytosol • endosome • early endosome • WASH complex • endoplasmic reticulum • nucleoplasm • neuron projection • neuronal cell body Biological process • protein transport • endosomal transport • oocyte maturation • polar body extrusion after meiotic divisions • spindle assembly involved in meiosis • positive regulation of neuron projection development Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	9897	223593
Ensembl	ENSG00000164961	ENSMUSG00000022350
UniProt	Q12768	Q8C2E7
RefSeq (mRNA)	NM_014846 NM_001330609	NM_153548
RefSeq (protein)	NP_001317538 NP_055661	NP_705776
Location (UCSC)	Chr 8: 125.02 – 125.09 Mb	Chr 15: 59.33 – 59.37 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

References

1. GRCh38: Ensembl release 89: ENSG00000164961 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000022350 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: KIAA0196 KIAA0196".
6. 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.
7. 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). doi:10.1186/s13023-015-0359-x. ISSN 1750-1172. PMC 4647479. PMID 26572744.

External links

• GeneReviews/NCBI/NIH/UW entry on Spastic Paraplegia 8 and the involvement of the protein strumpellin

Further reading

• 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.
• 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.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (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.
• 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. 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.
• 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.
• 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.