WASHC5
Identifiers
AliasesWASHC5, RTSC, SPG8, RTSC1, KIAA0196, WASH complex subunit 5
External IDsOMIM: 610657 MGI: 2146110 HomoloGene: 8898 GeneCards: WASHC5
Orthologs
SpeciesHumanMouse
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 MbChr 15: 59.2 – 59.25 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000164961 - Ensembl, May 2017
  2. 1 2 3 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.

Further reading


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