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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
Wiskott-Aldrich syndromeMIM:300392Ensembl:ENSG00000015285HGNC:HGNC:12731PA37342Xp11.23

GO terms in WAS


Term TypeEvidence TypeGO Term IDGO Des.
CCIDAGO:0005829cytosol
CCTASGO:0005829cytosol
CCIBAGO:0005884actin filament
CCIDAGO:0005884actin filament
CCIEAGO:0005911cell-cell junction
CCIEAGO:0012506vesicle membrane
CCTASGO:0015629actin cytoskeleton
CCIBAGO:0030479actin cortical patch
CCIEAGO:0045335phagocytic vesicle
CCHDAGO:0070062extracellular exosome
BPIBAGO:0000147actin cortical patch assembly
BPIMPGO:0002625regulation of T cell antigen processing and presentation
BPIBAGO:0006897endocytosis
BPTASGO:0006952defense response
BPIMPGO:0006955immune response
BPIMPGO:0007266Rho protein signal transduction
BPTASGO:0007596blood coagulation
BPIMPGO:0008064regulation of actin polymerization or depolymerization
BPTASGO:0008154actin polymerization or depolymerization
BPIBAGO:0008360regulation of cell shape
BPTASGO:0008544epidermis development
BPIGIGO:0010591regulation of lamellipodium assembly
BPIEAGO:0016197endosomal transport
BPIEAGO:0030041actin filament polymerization
BPIBAGO:0030048actin filament-based movement
BPIEAGO:0030048actin filament-based movement
BPIMPGO:0032488Cdc42 protein signal transduction
BPTASGO:0038096Fc-gamma receptor signaling pathway involved in phagocytosis
BPIEAGO:0042110T cell activation
BPIEAGO:0050790regulation of catalytic activity
BPTASGO:0050852T cell receptor signaling pathway
BPIBAGO:0051127positive regulation of actin nucleation
BPIGIGO:0051492regulation of stress fiber assembly
BPIMPGO:0051497negative regulation of stress fiber assembly
BPIBAGO:0051666actin cortical patch localization
BPTASGO:0065003protein-containing complex assembly
BPIEAGO:0071346cellular response to interferon-gamma
BPIMPGO:2000146negative regulation of cell motility
BPIEAGO:2000601positive regulation of Arp2/3 complex-mediated actin nucleation
MFIEAGO:0003779actin binding
MFIPIGO:0005515protein binding
MFIPIGO:0017124SH3 domain binding
MFIPIGO:0019901protein kinase binding
MFTASGO:0030695GTPase regulator activity
MFIPIGO:0031267small GTPase binding
MFIPIGO:0042802identical protein binding
MFIPIGO:0043274phospholipase binding
MFIPIGO:0048365Rac GTPase binding
MFIBAGO:0051015actin filament binding

Gene expression in normal tissue: WAS

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in WAS


DatabasePathway IDPathway Des.
reactomeR-HSA-1280218Adaptive Immune System
reactomeR-HSA-162582Signal Transduction
reactomeR-HSA-162582Signal Transduction
reactomeR-HSA-168249Innate Immune System
reactomeR-HSA-168249Innate Immune System
reactomeR-HSA-168256Immune System
reactomeR-HSA-168256Immune System
reactomeR-HSA-194315Signaling by Rho GTPases
reactomeR-HSA-194315Signaling by Rho GTPases
reactomeR-HSA-195258RHO GTPase Effectors
reactomeR-HSA-195258RHO GTPase Effectors
reactomeR-HSA-202403TCR signaling
reactomeR-HSA-202433Generation of second messenger molecules
reactomeR-HSA-2029480Fcgamma receptor (FCGR) dependent phagocytosis
reactomeR-HSA-2029480Fcgamma receptor (FCGR) dependent phagocytosis
reactomeR-HSA-2029482Regulation of actin dynamics for phagocytic cup formation
reactomeR-HSA-2029482Regulation of actin dynamics for phagocytic cup formation
reactomeR-HSA-5663213RHO GTPases Activate WASPs and WAVEs
reactomeR-HSA-5663213RHO GTPases Activate WASPs and WAVEs
wikipathwaysWP2272Pathogenic Escherichia coli infection
wikipathwaysWP2806Human Complement System
wikipathwaysWP3929Chemokine signaling pathway
wikipathwaysWP51Regulation of Actin Cytoskeleton
wikipathwaysWP524G13 Signaling Pathway
wikipathwaysWP69T-Cell antigen Receptor (TCR) Signaling Pathway
kegghsa04062Chemokine signaling pathway - Homo sapiens (human)
kegghsa04144Endocytosis - Homo sapiens (human)
kegghsa04520Adherens junction - Homo sapiens (human)
kegghsa04530Tight junction - Homo sapiens (human)
kegghsa04666Fc gamma R-mediated phagocytosis - Homo sapiens (human)
kegghsa04810Regulation of actin cytoskeleton - Homo sapiens (human)
kegghsa05100Bacterial invasion of epithelial cells - Homo sapiens (human)
kegghsa05130Pathogenic Escherichia coli infection - Homo sapiens (human)
kegghsa05131Shigellosis - Homo sapiens (human)
kegghsa05132Salmonella infection - Homo sapiens (human)
kegghsa05231Choline metabolism in cancer - Homo sapiens (human)
pidtcr_pathwayTCR signaling in naïve CD4+ T cells
netpathPathway_KitReceptorKitReceptor
netpathPathway_TCRTCR

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD481Dactolisib1
iGMDRD213SMR0000686502
iGMDRD137Indisulam1
iGMDRD82Quiflapon2
iGMDRD871BRD63685
iGMDRD872BRD71375
iGMDRD329Merck606
iGMDRD366PI-1038
iGMDRD424Tamatinib2
iGMDRD523Cyanoquinoline, 115
iGMDRD405PIK-753
iGMDRD148Pifithrin-mu2
iGMDRD123Isoevodiamine7
iGMDRD177Teniposide5
iGMDRD341Triacsin c2
iGMDRD314Tanespimycin2
iGMDRD698Neratinib3
iGMDRD219Bax channel blocker2
iGMDRD782DC-45-A21
iGMDRD318PAC-12
iGMDRD885Compound 1106
iGMDRD52Rotenone2
iGMDRD513BML-2596
iGMDRD255SB2250023
iGMDRD356PNU-746543
iGMDRD23Gossypol1
iGMDRD188Piperlongumine4
iGMDRD100Zebularine2
iGMDRD887Compound 23 citrate1
iGMDRD399Selumetinib6
iGMDRD888Compound 441
iGMDRD506Fedratinib6
iGMDRD577BIX012941
iGMDRD562Navitoclax9
iGMDRD427ABT7376
iGMDRD126Tipifarnib4
iGMDRD889Compound 7d-cis6
iGMDRD1008SR-II-138A3
iGMDRD579PF7502
iGMDRD297Austocystin D1
iGMDRD394BX-7951
iGMDRD359OSW-16
iGMDRD201SKI II2
iGMDRD316N9-Isopropyl-olomoucine5
iGMDRD152179324-69-71

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in WAS

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