Wiskott-Aldrich syndrome protein

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Wiskott-Aldrich syndrome (eczema-thrombocytopenia)
PDB rendering based on 1cee.
Available structures: 1cee, 1ej5, 1t84
Identifiers
Symbol(s) WAS; IMD2; THC; WASP
External IDs OMIM: 300392 MGI: 105059 HomoloGene: 30970
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 7454 22376
Ensembl ENSG00000015285 ENSMUSG00000031165
Uniprot P42768 Q53WY0
Refseq NM_000377 (mRNA)
NP_000368 (protein)		 XM_976759 (mRNA)
XP_981853 (protein)
Location Chr X: 48.43 - 48.43 Mb Chr X: 7.24 - 7.25 Mb
Pubmed search [1] [2]

The Wiskott-Aldrich Syndrome Protein (WASp) is a 502-amino acid protein that is expressed in cells of the hematopoietic system. In the inactive state, WASp exists in an auto-inhibited conformation with sequences near its C-terminus binding to a region near its N-terminus. Its activation is dependent upon Cdc42 and PIP2 acting to disrupt this interaction causing the WASp protein to 'open'. This exposes a domain near the WASp C-Terminus that binds to and activates the Arp2/3 complex. Activated Arp2/3 nucleates new F-actin. WASp is the founding member of a gene family which also includes the broadly expressed N-WASP (neuronal Wiskott-Aldrich Syndrome protein), and Scar.

The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton. The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins. Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3. Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene. The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients. A transcript variant arising as a result of alternative promoter usage, and containing a different 5' UTR sequence, has been described, however, its full-length nature is not known.[1]


Contents

[edit] Genetic diseases associated with WASp

WASp is a product of the WAS gene and mutations in the WAS gene can lead to Wiskott-Aldrich syndrome (an X-linked disease that mainly affects males with symptoms that include thrombocytopenia, eczema, recurrent infections, and small-sized platelets). Other, less inactivating mutations affecting the WAS gene cause X-linked thrombocytopeia, or XLT.

[edit] See also

[edit] References

  1. ^ Entrez Gene: WAS Wiskott-Aldrich syndrome (eczema-thrombocytopenia).

[edit] Further reading

[edit] External links

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Proteins of the cytoskeleton
Microfilaments
Intermediate filaments
type 1 and 2 (Cytokeratin, type I, type II) - type 3 (Desmin, GFAP, Peripherin, Vimentin) - type 4 (Internexin, Nestin, Neurofilament, Synemin, Syncoilin) - type 5 (Lamin A, B)
Microtubules
Catenins
Nonhuman
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