Tbio WAS Wiskott-Aldrich syndrome protein

Protein Summary

Description

Effector protein for Rho-type GTPases that regulates actin filament reorganization via its interaction with the Arp2/3 complex (PubMed:12235133, PubMed:12769847, PubMed:16275905). Important for efficient actin polymerization (PubMed:8625410, PubMed:12235133, PubMed:16275905). Possible regulator of lymphocyte and platelet function (PubMed:9405671). Mediates actin filament reorganization and the formation of actin pedestals upon infection by pathogenic bacteria (PubMed:18650809). In addition to its role in the cytoplasmic cytoskeleton, also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:20574068). Promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) (PubMed:29925947). 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. [provided by RefSeq, Jul 2008]

Uniprot Accession IDs

• P42768
• Q9BU11
• Q9UNJ9
• WASp

Gene Name

• WAS

Ensembl ID

• ENST00000376701
• ENSP00000365891
• ENSG00000015285

Symbol

• IMD2
• THC
• IMD2
• SCNX
• THC1
• WASP
• WASPA

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
co-expressed gene	0.95
hub protein	0.95
kinase	0.92
protein domain	0.85
phenotype	0.83

Protein Classes

PANTHER Classes

Protein / Cytoskeletal Protein / Actin Family Cytoskeletal Protein / Wiskott-aldrich Syndrome Protein

DTO Classes

Protein / Cellular Structure / Actin Family Cytoskeletal Protein / Wiskott-aldrich Syndrome Protein

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1397.75   (req: < 5)

Gene RIFs: 140   (req: <= 3)

Antibodies: 451   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1397.75   (req: >= 5)

Gene RIFs: 140   (req: > 3)

Antibodies: 451   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 35

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0