KIAA0196

WASHC5
Identifiers
Aliases	WASHC5 , RTSC, SPG8, RTSC1, KIAA0196, WASH complex subunit 5
External IDs	OMIM: 610657; MGI: 2146110; HomoloGene: 8898; GeneCards: WASHC5; OMA:WASHC5 - orthologs
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 59,203,846 bp [2] End 59,246,016 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in corpus callosum Achilles tendon stromal cell of endometrium monocyte bone marrow cells epithelium of nasopharynx epithelium of colon islet of Langerhans C1 segment spinal ganglia Top expressed in endothelial cell of lymphatic vessel hand stroma of bone marrow calvaria epithelium of lens foot vas deferens condyle iris otolith organ More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component cytoplasm cytosol endosome early endosome WASH complex endoplasmic reticulum nucleoplasm neuron projection soma Biological process protein transport endosomal transport oocyte maturation polar body extrusion after meiotic divisions meiotic spindle assembly 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: 59.2 – 59.25 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]

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): 147. 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. 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.