Homo sapiens Gene: WAS
Summary
InnateDB Gene IDBG-63703.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol WAS
Gene Name Wiskott-Aldrich syndrome
Synonyms IMD2; SCNX; THC; THC1; WASP;
Species Homo sapiens
Ensembl Gene ENSG00000015285
Encoded Proteins
Wiskott-Aldrich syndrome (eczema-thrombocytopenia)
Wiskott-Aldrich syndrome (eczema-thrombocytopenia)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation
Summary
WAS interacts with BTK to induce the LPS signalling cascade in macrophages. (Demonstrated in mice)
InnateDB Annotation from Orthologs
Summary
[Mus musculus] Was interacts with Btk to induce the LPS signalling cascade in macrophages.
Entrez Gene
Summary 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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:48676596-48691427
Strand Forward strand
Band p11.23
Transcripts
ENST00000376701 ENSP00000365891
ENST00000450772 ENSP00000410537
ENST00000465982
ENST00000483750
ENST00000490627
ENST00000474174
ENST00000470107
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 116 experimentally validated interaction(s) in this database.
They are also associated with 18 interaction(s) predicted by orthology.
Experimentally validated
Total 116 [view]
Protein-Protein 116 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 18 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003779 actin binding
GO:0005083 small GTPase regulator activity
GO:0005515 protein binding
GO:0042802 identical protein binding
Biological Process
GO:0006461 protein complex assembly
GO:0006952 defense response
GO:0006955 immune response
GO:0007015 actin filament organization
GO:0007596 blood coagulation
GO:0008154 actin polymerization or depolymerization
GO:0008544 epidermis development
GO:0016197 endosomal transport
GO:0030041 actin filament polymerization
GO:0030048 actin filament-based movement
GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis
GO:0042110 T cell activation
GO:0045087 innate immune response (InnateDB)
GO:0050790 regulation of catalytic activity
GO:0050852 T cell receptor signaling pathway
GO:2000601 positive regulation of Arp2/3 complex-mediated actin nucleation
Cellular Component
GO:0005829 cytosol
GO:0005911 cell-cell junction
GO:0012506 vesicle membrane
GO:0015629 actin cytoskeleton
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
KitReceptor pathway
TCR pathway
BCR pathway
REACTOME
Regulation of actin dynamics for phagocytic cup formation pathway
TCR signaling pathway
Innate Immune System pathway
Adaptive Immune System pathway
Immune System pathway
Fcgamma receptor (FCGR) dependent phagocytosis pathway
Generation of second messenger molecules pathway
KEGG
Chemokine signaling pathway pathway
Adherens junction pathway
Fc gamma R-mediated phagocytosis pathway
Regulation of actin cytoskeleton pathway
Bacterial invasion of epithelial cells pathway
Pathogenic Escherichia coli infection pathway
Shigellosis pathway
INOH
PID BIOCARTA
PID NCI
TCR signaling in na´ve CD4+ T cells
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.2157 Hs.602310
RefSeq NM_000377
HUGO
OMIM
CCDS CCDS14303
HPRD 02314
IMGT
EMBL
GenPept
RNA Seq Atlas