WAS protein family homolog 1; protein FAM39E; CXYorf1-like protein on chromosome 9 (WASH1, FAM39E)
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Function
- acts as a nucleation-promoting factor at the surface of endosomes
- recruits & activates the Arp2/3 complex to induce actin polymerization
- role in fission of tubules that serve as transport intermediates during endosome sorting
- ubiquitinated at Lys-220 via 'Lys-63'-linked ubiquitin chains by the TRIM27:MAGEL2 E3 ubiquitin ligase complex, leading to promote endosomal F-actin assembly[4]
- component of the WASH complex
- interacts (via WHD1 region) with FAM21C
- interacts with alpha-tubulin
Structure
- belongs to the WASH1 family
- contains 1 WH2 domain
Compartment
- early endosome membrane
- recycling endosome membrane
- localization to the endodome membrane is mediated via its interaction with FAM21
Genetics
- WASH genes duplicated to multiple chromosomal ends during primate evolution, with highest copy number reached in humans, whose WASH repertoires probably vary extensively among individuals[2]
- telomeric region of chromosome 9p is paralogous to the pericentromeric regions of chromosome 9 as well as to 2q paralogous regions contain 7 transcriptional units, including CXYorf1
- duplicated CXYorf1 genes are also present in the Xq/Yq pseudoautosomal region, as well as on chromosome 1 & 15
- the chromosome 16 copy seems to be a pseudogene
More general terms
Component of
References
- ↑ UniProt http://www.uniprot.org/uniprot/A8K0Z3.html
- ↑ 2.0 2.1 Linardopoulou EV et al Human subtelomeric WASH genes encode a new subclass of the WASP family. PLoS Genet. 2007 Dec;3(12):e237. PMID: https://www.ncbi.nlm.nih.gov/pubmed/18159949
- ↑ PMID: https://www.ncbi.nlm.nih.gov/pubmed/19922874
- ↑ 4.0 4.1 PMID: https://www.ncbi.nlm.nih.gov/pubmed/23452853
- ↑ PMID: https://www.ncbi.nlm.nih.gov/pubmed/19922875