WAS
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| Wiskott-Aldrich syndrome | MIM:300392 | Ensembl:ENSG00000015285 | HGNC:HGNC:12731 | PA37342 | Xp11.23 |
GO terms in WAS
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IDA | GO:0005829 | cytosol |
| CC | TAS | GO:0005829 | cytosol |
| CC | IBA | GO:0005884 | actin filament |
| CC | IDA | GO:0005884 | actin filament |
| CC | IEA | GO:0005911 | cell-cell junction |
| CC | IEA | GO:0012506 | vesicle membrane |
| CC | TAS | GO:0015629 | actin cytoskeleton |
| CC | IBA | GO:0030479 | actin cortical patch |
| CC | IEA | GO:0045335 | phagocytic vesicle |
| CC | HDA | GO:0070062 | extracellular exosome |
| BP | IBA | GO:0000147 | actin cortical patch assembly |
| BP | IMP | GO:0002625 | regulation of T cell antigen processing and presentation |
| BP | IBA | GO:0006897 | endocytosis |
| BP | TAS | GO:0006952 | defense response |
| BP | IMP | GO:0006955 | immune response |
| BP | IMP | GO:0007266 | Rho protein signal transduction |
| BP | TAS | GO:0007596 | blood coagulation |
| BP | IMP | GO:0008064 | regulation of actin polymerization or depolymerization |
| BP | TAS | GO:0008154 | actin polymerization or depolymerization |
| BP | IBA | GO:0008360 | regulation of cell shape |
| BP | TAS | GO:0008544 | epidermis development |
| BP | IGI | GO:0010591 | regulation of lamellipodium assembly |
| BP | IEA | GO:0016197 | endosomal transport |
| BP | IEA | GO:0030041 | actin filament polymerization |
| BP | IBA | GO:0030048 | actin filament-based movement |
| BP | IEA | GO:0030048 | actin filament-based movement |
| BP | IMP | GO:0032488 | Cdc42 protein signal transduction |
| BP | TAS | GO:0038096 | Fc-gamma receptor signaling pathway involved in phagocytosis |
| BP | IEA | GO:0042110 | T cell activation |
| BP | IEA | GO:0050790 | regulation of catalytic activity |
| BP | TAS | GO:0050852 | T cell receptor signaling pathway |
| BP | IBA | GO:0051127 | positive regulation of actin nucleation |
| BP | IGI | GO:0051492 | regulation of stress fiber assembly |
| BP | IMP | GO:0051497 | negative regulation of stress fiber assembly |
| BP | IBA | GO:0051666 | actin cortical patch localization |
| BP | TAS | GO:0065003 | protein-containing complex assembly |
| BP | IEA | GO:0071346 | cellular response to interferon-gamma |
| BP | IMP | GO:2000146 | negative regulation of cell motility |
| BP | IEA | GO:2000601 | positive regulation of Arp2/3 complex-mediated actin nucleation |
| MF | IEA | GO:0003779 | actin binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0017124 | SH3 domain binding |
| MF | IPI | GO:0019901 | protein kinase binding |
| MF | TAS | GO:0030695 | GTPase regulator activity |
| MF | IPI | GO:0031267 | small GTPase binding |
| MF | IPI | GO:0042802 | identical protein binding |
| MF | IPI | GO:0043274 | phospholipase binding |
| MF | IPI | GO:0048365 | Rac GTPase binding |
| MF | IBA | GO:0051015 | actin filament binding |
Gene expression in normal tissue: WAS
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in WAS
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1280218 | Adaptive Immune System |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-194315 | Signaling by Rho GTPases |
| reactome | R-HSA-194315 | Signaling by Rho GTPases |
| reactome | R-HSA-195258 | RHO GTPase Effectors |
| reactome | R-HSA-195258 | RHO GTPase Effectors |
| reactome | R-HSA-202403 | TCR signaling |
| reactome | R-HSA-202433 | Generation of second messenger molecules |
| reactome | R-HSA-2029480 | Fcgamma receptor (FCGR) dependent phagocytosis |
| reactome | R-HSA-2029480 | Fcgamma receptor (FCGR) dependent phagocytosis |
| reactome | R-HSA-2029482 | Regulation of actin dynamics for phagocytic cup formation |
| reactome | R-HSA-2029482 | Regulation of actin dynamics for phagocytic cup formation |
| reactome | R-HSA-5663213 | RHO GTPases Activate WASPs and WAVEs |
| reactome | R-HSA-5663213 | RHO GTPases Activate WASPs and WAVEs |
| wikipathways | WP2272 | Pathogenic Escherichia coli infection |
| wikipathways | WP2806 | Human Complement System |
| wikipathways | WP3929 | Chemokine signaling pathway |
| wikipathways | WP51 | Regulation of Actin Cytoskeleton |
| wikipathways | WP524 | G13 Signaling Pathway |
| wikipathways | WP69 | T-Cell antigen Receptor (TCR) Signaling Pathway |
| kegg | hsa04062 | Chemokine signaling pathway - Homo sapiens (human) |
| kegg | hsa04144 | Endocytosis - Homo sapiens (human) |
| kegg | hsa04520 | Adherens junction - Homo sapiens (human) |
| kegg | hsa04530 | Tight junction - Homo sapiens (human) |
| kegg | hsa04666 | Fc gamma R-mediated phagocytosis - Homo sapiens (human) |
| kegg | hsa04810 | Regulation of actin cytoskeleton - Homo sapiens (human) |
| kegg | hsa05100 | Bacterial invasion of epithelial cells - Homo sapiens (human) |
| kegg | hsa05130 | Pathogenic Escherichia coli infection - Homo sapiens (human) |
| kegg | hsa05131 | Shigellosis - Homo sapiens (human) |
| kegg | hsa05132 | Salmonella infection - Homo sapiens (human) |
| kegg | hsa05231 | Choline metabolism in cancer - Homo sapiens (human) |
| pid | tcr_pathway | TCR signaling in naïve CD4+ T cells |
| netpath | Pathway_KitReceptor | KitReceptor |
| netpath | Pathway_TCR | TCR |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD481 | Dactolisib | 1 |
| iGMDRD213 | SMR000068650 | 2 |
| iGMDRD137 | Indisulam | 1 |
| iGMDRD82 | Quiflapon | 2 |
| iGMDRD871 | BRD6368 | 5 |
| iGMDRD872 | BRD7137 | 5 |
| iGMDRD329 | Merck60 | 6 |
| iGMDRD366 | PI-103 | 8 |
| iGMDRD424 | Tamatinib | 2 |
| iGMDRD523 | Cyanoquinoline, 11 | 5 |
| iGMDRD405 | PIK-75 | 3 |
| iGMDRD148 | Pifithrin-mu | 2 |
| iGMDRD123 | Isoevodiamine | 7 |
| iGMDRD177 | Teniposide | 5 |
| iGMDRD341 | Triacsin c | 2 |
| iGMDRD314 | Tanespimycin | 2 |
| iGMDRD698 | Neratinib | 3 |
| iGMDRD219 | Bax channel blocker | 2 |
| iGMDRD782 | DC-45-A2 | 1 |
| iGMDRD318 | PAC-1 | 2 |
| iGMDRD885 | Compound 110 | 6 |
| iGMDRD52 | Rotenone | 2 |
| iGMDRD513 | BML-259 | 6 |
| iGMDRD255 | SB225002 | 3 |
| iGMDRD356 | PNU-74654 | 3 |
| iGMDRD23 | Gossypol | 1 |
| iGMDRD188 | Piperlongumine | 4 |
| iGMDRD100 | Zebularine | 2 |
| iGMDRD887 | Compound 23 citrate | 1 |
| iGMDRD399 | Selumetinib | 6 |
| iGMDRD888 | Compound 44 | 1 |
| iGMDRD506 | Fedratinib | 6 |
| iGMDRD577 | BIX01294 | 1 |
| iGMDRD562 | Navitoclax | 9 |
| iGMDRD427 | ABT737 | 6 |
| iGMDRD126 | Tipifarnib | 4 |
| iGMDRD889 | Compound 7d-cis | 6 |
| iGMDRD1008 | SR-II-138A | 3 |
| iGMDRD579 | PF750 | 2 |
| iGMDRD297 | Austocystin D | 1 |
| iGMDRD394 | BX-795 | 1 |
| iGMDRD359 | OSW-1 | 6 |
| iGMDRD201 | SKI II | 2 |
| iGMDRD316 | N9-Isopropyl-olomoucine | 5 |
| iGMDRD152 | 179324-69-7 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in WAS
CLASSFICATION
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.