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WAS Wiskott-Aldrich syndrome (eczema-thrombocytopenia) [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

Related Services

Gene Symbol WAS
Entrez Gene ID 7454
Full Name Wiskott-Aldrich syndrome (eczema-thrombocytopenia)
Synonyms IMD2, THC, THC1, WASP
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
hsa05131Shigellosis
hsa05130Pathogenic Escherichia coli infection
hsa05132Salmonella infection
hsa04810Regulation of actin cytoskeleton
hsa04520Adherens junction
hsa04666Fc gamma R-mediated phagocytosis
hsa05100Bacterial invasion of epithelial cells
hsa04062Chemokine signaling pathway
WikiPathways
WP2272Pathogenic Escherichia coli infection
WP69TCR Signaling Pathway
WP51Regulation of Actin Cytoskeleton
WP524G13 Signaling Pathway
WP23B Cell Receptor Signaling Pathway
Pathway Interaction Database
tcr_pathwayTCR signaling in naive CD4+ T cells
Reactome
REACT_12623Generation of second messenger molecules
REACT_6900Immune System
REACT_75774Adaptive Immune System
REACT_12526TCR signaling
Homo sapiens (human)WASNP_000368.1
Macaca mulatta (Rhesus monkey)LOC714474XP_001104246.2
Canis lupus familiaris (dog)WASXP_548986.2
Bos taurus (cattle)LOC100336547XP_003588221.1
Mus musculus (house mouse)WasNP_033541.1
Danio rerio (zebrafish)wasbNP_956232.1
GeneCards WAS
PDB 2K42, 1T84, 2A3Z, 2OT0, 1EJ5, 1CEE
UniProt P42768
MIM 300392
Ensembl ENSG00000015285
HGNC 12731
HPRD 02314

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

General protein information

Preferred Names
wiskott-Aldrich syndrome protein
Names
wiskott-Aldrich syndrome protein
eczema-thrombocytopenia
thrombocytopenia 1 (X-linked)

Interactant



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