| Tbio | Wiskott-Aldrich syndrome protein |
Effector protein for Rho-type GTPases. Regulates actin filament reorganization via its interaction with the Arp2/3 complex. Important for efficient actin polymerization. Possible regulator of lymphocyte and platelet function. Mediates actin filament reorganization and the formation of actin pedestals upon infection by pathogenic bacteria.
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]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Wiskott-Aldrich syndrome | 30 | 8.371 | 4.0 |
| Neutropenia, Severe Congenital, X-Linked | 1 | 0.0 | 0.0 |
| Thrombocytopenia 1 | 1 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| osteosarcoma | 7950 | 1.0e-06 |
| malignant mesothelioma | 3232 | 3.5e-06 |
| psoriasis | 6694 | 1.7e-05 |
| cutaneous lupus erythematosus | 1057 | 1.9e-03 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Dermatitis | 157 | 5.071 | 2.5 |
| Primary immunodeficiency disease | 54 | 4.505 | 2.3 |
| Neurodegeneration with brain iron accumulation 6 | 8 | 4.345 | 2.2 |
| Neutropenia | 72 | 3.648 | 1.8 |
| Allergic hypersensitivity disease | 126 | 3.356 | 1.7 |
| Hereditary spherocytosis type 1 | 23 | 3.233 | 1.6 |
| Disease | Target Count |
|---|---|
| X-linked thrombocytopenia with normal platelets | 1 |
| Disease | log2 FC | p |
|---|---|---|
| cutaneous lupus erythematosus | 1.300 | 1.9e-03 |
| malignant mesothelioma | 2.100 | 3.5e-06 |
| osteosarcoma | -3.511 | 1.0e-06 |
| psoriasis | 2.700 | 1.7e-05 |
MSGGPMGGRPGGRGAPAVQQNIPSTLLQDHENQRLFEMLGRKCLTLATAVVQLYLALPPGAEHWTKEHCG 1 - 70 AVCFVKDNPQKSYFIRLYGLQAGRLLWEQELYSQLVYSTPTPFFHTFAGDDCQAGLNFADEDEAQAFRAL 71 - 140 VQEKIQKRNQRQSGDRRQLPPPPTPANEERRGGLPPLPLHPGGDQGGPPVGPLSLGLATVDIQNPDITSS 141 - 210 RYRGLPAPGPSPADKKRSGKKKISKADIGAPSGFKHVSHVGWDPQNGFDVNNLDPDLRSLFSRAGISEAQ 211 - 280 LTDAETSKLIYDFIEDQGGLEAVRQEMRRQEPLPPPPPPSRGGNQLPRPPIVGGNKGRSGPLPPVPLGIA 281 - 350 PPPPTPRGPPPPGRGGPPPPPPPATGRSGPLPPPPPGAGGPPMPPPPPPPPPPPSSGNGPAPPPLPPALV 351 - 420 PAGGLAPGGGRGALLDQIRQGIQLNKTPGAPESSALQPPPQSSEGLVGALMHVMQKRSRAIHSSDEGEDQ 421 - 490 AGDEDEDDEWDD 491 - 502 //
