InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-63705

Wiskott-Aldrich syndrome (eczema-thrombocytopenia)

IDBP-370520

Wiskott-Aldrich syndrome (eczema-thrombocytopenia)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

InnateDB Annotation

Summary

PMID 22253930

WAS interacts with BTK to induce the LPS signalling cascade in macrophages. (Demonstrated in mice)

InnateDB Annotation from Orthologs

Summary

PMID 22253930

[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

ENSMUSG00000031165

View Gene Order

ENSBTAG00000046555

Not yet available

Pathways

NETPATH

NetPath_6

KitReceptor pathway

NetPath_11

TCR pathway

NetPath_12

BCR pathway

REACTOME

REACT_160086

Regulation of actin dynamics for phagocytic cup formation pathway

REACT_12623

Generation of second messenger molecules pathway

REACT_12526

TCR signaling pathway

REACT_6802

Innate Immune System pathway

REACT_75774

Adaptive Immune System pathway

REACT_6900

Immune System pathway

REACT_160123

Fcgamma receptor (FCGR) dependent phagocytosis pathway

KEGG

hsa04810

Regulation of actin cytoskeleton pathway

hsa05130

Pathogenic Escherichia coli infection pathway

hsa04520

Adherens junction pathway

hsa04666

Fc gamma R-mediated phagocytosis pathway

hsa04062

Chemokine signaling pathway pathway

hsa05100

Bacterial invasion of epithelial cells pathway

hsa05131

Shigellosis pathway

INOH

PID NCI

tcr_pathway

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