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Wiskott-Aldrich syndrome protein (WASp, WAS, IMD2)
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:
- expressed predominantly in the thymus
- found, to a much lesser extent, in the spleen
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
Related
WAS gene mutation
Wiskott Aldrich syndrome protein (WASP) gene
General
cytoskeletal protein
phosphoprotein
Wiskott Aldrich syndrome protein family (WASF)
Properties
SIZE: MW = 53 kD
entity length = 502 aa
COMPARTMENT: cytoplasm
MOTIF: WH1 {39-148}
proline-rich region
SITE: 160-165
MOTIF: proline residue (SEVERAL)
CRIB domain {238-251}
Tyr phosphorylation site {Y291}
proline-rich region
SITE: 312-319
MOTIF: proline residue (SEVERAL)
consensus repeat {337-346}
SEQUENCE-IS: GRSGPLPPXP
proline-rich region
SITE: 351-356
MOTIF: proline residue (SEVERAL)
proline-rich region
SITE: 359-362
MOTIF: proline residue (SEVERAL)
proline-rich region
SITE: 367-373
MOTIF: proline residue (SEVERAL)
consensus repeat {376-385}
SEQUENCE-IS: GRSGPLPPXP
proline-rich region
SITE: 380-386
MOTIF: proline residue (SEVERAL)
proline-rich region
SITE: 391-404
MOTIF: proline residue (SEVERAL)
WH2 {430-447}
Ser phosphorylation site {S483}
Ser phosphorylation site {S484}
acidic region {485-502}
MOTIF: acidic residue (SEVERAL)
Database Correlations
OMIM correlations
UniProt P42768
PFAM correlations
Entrez Gene 7454
Kegg hsa:7454
References
- UniProt :accession P42768
- 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