Wiskott-Aldrich syndrome protein (WASp, WAS, IMD2)
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Function
- effector protein for Rho-type GTPases, providing a link with the Arp2/3 complex that regulates the structure & dynamics of the actin cytoskeleton
- important for efficient actin polymerization
- possible regulator of lymphocyte & platelet function
- binds to CDC42, RAC, NCK, FYN, SRC kinase FGR, BTK, ABL, PSTPIP1, WIP, & to the p85 subunit of PLC-gamma
- binds the Arp2/3 complex
Structure
- contains 1 CRIB domain binding of Rho-type GTPases to CRIB domain induces a conformation change & leads to activation
- contains 1 WH1 domain (Wasp homology 1 domain), may bind a Pro-rich ligand
- contains 1 WH2 domain CRIB (Cdc42/Rac-interactive-binding) region binds to the C-terminal WH2 domain in the autoinhibited state
Expression
Pathology
- defects in WAS are the cause of Wiskott-Aldrich syndrome
- defects in WAS are the cause of isolated X-linked thrombocytopenia
- defects in WAS are a cause of X-linked severe congenital neutropenia
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P42768.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=WAS
- ↑ WASbase; Note: WAS mutation db http://bioinf.uta.fi/WASbase/
- ↑ WASPbase; Note: WAS mutation db http://homepage.mac.com/kohsukeimai/wasp/WASPbase.html
- ↑ Wikipedia Wiskott-Aldrich syndrome protein http://en.wikipedia.org/wiki/Wiskott-Aldrich_syndrome_protein
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=7454
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:7454
- OMIM: https://mirror.omim.org/entry/300299
- OMIM: https://mirror.omim.org/entry/300392
- OMIM: https://mirror.omim.org/entry/301000
- OMIM: https://mirror.omim.org/entry/313900
- UniProt: http://www.uniprot.org/uniprot/P42768.html