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WAS Wiskott-Aldrich syndrome [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000377 Homo sapiens Wiskott-Aldrich syndrome (WAS), mRNA. GenEZ ORF Cloning On-demand $699.00 18

*Business Day

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Gene Symbol WAS
Entrez Gene ID 7454
Full Name Wiskott-Aldrich syndrome
Synonyms IMD2, SCNX, THC, THC1, WASP
General protein information
Preferred Names
wiskott-Aldrich syndrome protein
Names
wiskott-Aldrich syndrome protein
eczema-thrombocytopenia
thrombocytopenia 1 (X-linked)
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xp11.4-p11.21

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].
Disorder

MIM: 300392

Wiskott-Aldrich syndrome, 301000 (3);

mRNA Protein Product Sequence Price Select
NM_000377, 187608471 NP_000368, 4507909 wiskott-Aldrich syndrome protein ORF Sequence $550.00
KEGG
hsa04810Regulation of actin cytoskeleton
hsa05130Pathogenic Escherichia coli infection
hsa04520Adherens junction
hsa05131Shigellosis
hsa04062Chemokine signaling pathway
hsa04666Fc gamma R-mediated phagocytosis
hsa05100Bacterial invasion of epithelial cells
hsa05132Salmonella infection
WikiPathways
WP524G13 Signaling Pathway
WP69TCR Signaling Pathway
WP23B Cell Receptor Signaling Pathway
WP51Regulation of Actin Cytoskeleton
WP2272Pathogenic Escherichia coli infection
Pathway Interaction Database
tcr_pathwayTCR signaling in naive CD4+ T cells
Reactome
REACT_6802Innate Immune System
REACT_6900Immune System
REACT_12623Generation of second messenger molecules
REACT_12526TCR signaling
REACT_75774Adaptive Immune System
REACT_160123Fcgamma receptor (FCGR) dependent phagocytosis
REACT_160086Regulation of actin dynamics for phagocytic cup formation
Homo sapiens (human)WASNP_000368.1
Macaca mulatta (Rhesus monkey)LOC714474XP_001104246.2
Canis lupus familiaris (dog)WASXP_548986.2
Mus musculus (house mouse)WasNP_033541.1
Rattus norvegicus (Norway rat)WasNP_001101718.1
Danio rerio (zebrafish)wasaXP_699919.5
Process
IDNameEvidence
GO:0006461protein complex assemblyTAS
GO:0006952defense responseTAS
GO:0006955immune responseIMP
GO:0007596blood coagulationTAS
GO:0008154actin polymerization or depolymerizationTAS
GO:0008544epidermis developmentTAS
GO:0016197endosomal transportIEA
GO:0030041actin filament polymerizationIEA
GO:0030048actin filament-based movementIEA
GO:0038096Fc-gamma receptor signaling pathway involved in phagocytosisTAS
GO:0042110T cell activationIEA
GO:0045087innate immune responseTAS
GO:0050790regulation of catalytic activityTAS
GO:0050852T cell receptor signaling pathwayTAS
GO:2000601positive regulation of Arp2/3 complex-mediated actin nucleationIEA
Component
IDNameEvidence
GO:0005829cytosolTAS
GO:0012506vesicle membraneIEA
GO:0015629actin cytoskeletonTAS
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0003779actin bindingIEA
GO:0005083small GTPase regulator activityTAS
GO:0005515protein bindingIPI
GO:0042802identical protein bindingIPI
GeneCards WAS
PDB 2K42, 1T84, 2A3Z, 2OT0, 1EJ5, 1CEE
UniProt P42768
Vega OTTHUMG00000034483
MIM 300392
Ensembl ENSG00000015285
HGNC 12731
HPRD 02314

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the WAS gene?

The WAS gene provides instructions for making a protein called WASP. This protein is found in all blood cells. WASP is involved in relaying signals from the surface of blood cells to the actin cytoskeleton, which is a network of fibers that make up the cell's structural framework. WASP signaling activates the cell when it is needed and triggers its movement (motility) and attachment to other cells and tissues (adhesion). In white blood cells, which protect the body from infection, this signaling allows the actin cytoskeleton to establish the interaction between cells and the foreign invaders that they target (immune synapse).

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