Homo sapiens Gene: WAS | |||||||||||||||||||||||||||||||||
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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)
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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)
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InnateDB Annotation from Orthologs | |||||||||||||||||||||||||||||||||
Summary |
[Mus musculus] Was interacts with Btk to induce the LPS signalling cascade in macrophages.
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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] |
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Gene Information | |||||||||||||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||||||||||||
Genomic Location | Chromosome X:48676596-48691427 | ||||||||||||||||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||||||||||||||||
Band | p11.23 | ||||||||||||||||||||||||||||||||
Transcripts |
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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.
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Gene Ontology | |||||||||||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||||||||||||||
NETPATH |
KitReceptor pathway
TCR pathway
BCR pathway
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REACTOME |
Regulation of actin dynamics for phagocytic cup formation pathway
Generation of second messenger molecules pathway
TCR signaling pathway
Innate Immune System pathway
Adaptive Immune System pathway
Immune System pathway
Fcgamma receptor (FCGR) dependent phagocytosis pathway
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KEGG |
Regulation of actin cytoskeleton pathway
Pathogenic Escherichia coli infection pathway
Adherens junction pathway
Fc gamma R-mediated phagocytosis pathway
Chemokine signaling pathway pathway
Bacterial invasion of epithelial cells pathway
Shigellosis pathway
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INOH | |||||||||||||||||||||||||||||||||
PID NCI |
TCR signaling in naïve CD4+ T cells
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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 | |||||||||||||||||||||||||||||||||