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WAS protein family homolog 1; protein FAM39E; CXYorf1-like protein on chromosome 9 (WASH1, FAM39E)
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
General
WAS protein family homolog; protein FAM39DP (WASH)
Properties
SIZE: entity length = 465 aa
MW = 50 kD
COMPARTMENT: cytoplasm
MOTIF: WHD1 {1-167}
proline-rich region
SITE: 304-333
MOTIF: proline residue (SEVERAL)
WH2 {364-386}
Database Correlations
OMIM 613632
UniProt A8K0Z3
Pfam PF11945
Entrez Gene 100287
Kegg hsa:100287
References
- UniProt :accession A8K0Z3
- Linardopoulou EV et al
Human subtelomeric WASH genes encode a new subclass of the
WASP family.
PLoS Genet. 2007 Dec;3(12):e237.
PMID: 18159949
- PMID: 19922874
- PMID: 23452853
- PMID: 19922875