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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]
WAS (WASP Actin Nucleation Promoting Factor) is a Protein Coding gene. Diseases associated with WAS include Wiskott-Aldrich Syndrome and Thrombocytopenia 1. Among its related pathways are Phospholipase D signaling pathway and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include identical protein binding and actin binding. An important paralog of this gene is WASL.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003779 | actin binding | IEA | -- |
GO:0005515 | protein binding | IPI | 8892607 |
GO:0017124 | SH3 domain binding | IPI | 8892607 |
GO:0019901 | protein kinase binding | IPI | 8892607 |
GO:0030695 | GTPase regulator activity | TAS | 8625410 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 20574068 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005884 | actin filament | IDA | 8625410 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Regulation of actin dynamics for phagocytic cup formation | ||
2 | Actin Nucleation by ARP-WASP Complex |
Actin Nucleation and Branching
.66
|
CDC42 Pathway
.41
|
3 | PAK Pathway |
PAK Pathway
.56
|
Epithelial Adherens Junctions
.36
|
4 | Integrin Pathway |
FAK1 Signaling
.67
|
Transendothelial Migration of Leukocytes
.38
|
5 | Sertoli-Sertoli Cell Junction Dynamics |
Germ Cell-Sertoli Cell Junction Dynamics
.38
|
Sertoli-Sertoli Cell Junction Dynamics
.38
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000147 | actin cortical patch assembly | IBA | -- |
GO:0002625 | regulation of T cell antigen processing and presentation | IMP | 22804504 |
GO:0006897 | endocytosis | IBA | -- |
GO:0006952 | defense response | TAS | 8069912 |
GO:0006955 | immune response | IMP | 8069912 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
(S)-wiskostatin | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | WAS 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Was 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Was 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | WAS 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | WAS 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | WAS 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | WAS 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | wasa 30 31 |
|
OneToMany | |
wasb 31 |
|
OneToMany | |||
WAS (3 of 3) 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | WASp 31 32 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | LAS17 31 33 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.5291 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
11130 | Pathogenic: Wiskott-Aldrich syndrome | 48,686,780(+) | G/A | SPLICE_ACCEPTOR_VARIANT | |
11131 | Pathogenic: Wiskott-Aldrich syndrome | 48,686,136(+) | T/G | SPLICE_DONOR_VARIANT | |
11133 | Pathogenic: Wiskott-Aldrich syndrome | 48,683,924(+) | CCA/C | FRAMESHIFT_VARIANT | |
627275 | Uncertain Significance: Thrombocytopenia | 48,684,367(+) | T/A | MISSENSE_VARIANT | |
638573 | Pathogenic: Wiskott-Aldrich syndrome | 48,689,042(+) | CCGGCAGGGAATTCAG |
Disorder | Aliases | PubMed IDs |
---|---|---|
wiskott-aldrich syndrome |
|
|
thrombocytopenia 1 |
|
|
neutropenia, severe congenital, x-linked |
|
|
thrombocytopenia |
|
|
x-linked recessive disease |
|
|