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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
X
Cytoband
p11.23
Chromosome location (bp)
48676596 - 48691431
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Effector protein for Rho-type GTPases that regulates actin filament reorganization via its interaction with the Arp2/3 complex 1,2,3. Important for efficient actin polymerization 4,5,6. Possible regulator of lymphocyte and platelet function 7. Mediates actin filament reorganization and the formation of actin pedestals upon infection by pathogenic bacteria 8. In addition to its role in the cytoplasmic cytoskeleton, also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA 9. Promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) 10....show less
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cardiovascular diseases Hematologic diseases Immune system diseases Primary immunodeficiency Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002625[regulation of T cell antigen processing and presentation] GO:0003779[actin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005884[actin filament] GO:0005886[plasma membrane] GO:0005911[cell-cell junction] GO:0006952[defense response] GO:0006955[immune response] GO:0007015[actin filament organization] GO:0007596[blood coagulation] GO:0008064[regulation of actin polymerization or depolymerization] GO:0008154[actin polymerization or depolymerization] GO:0008544[epidermis development] GO:0010591[regulation of lamellipodium assembly] GO:0012506[vesicle membrane] GO:0015629[actin cytoskeleton] GO:0016197[endosomal transport] GO:0017124[SH3 domain binding] GO:0019901[protein kinase binding] GO:0030036[actin cytoskeleton organization] GO:0030041[actin filament polymerization] GO:0030048[actin filament-based movement] GO:0030695[GTPase regulator activity] GO:0031267[small GTPase binding] GO:0032488[Cdc42 protein signal transduction] GO:0035861[site of double-strand break] GO:0042110[T cell activation] GO:0042802[identical protein binding] GO:0043274[phospholipase binding] GO:0045335[phagocytic vesicle] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0051492[regulation of stress fiber assembly] GO:0051497[negative regulation of stress fiber assembly] GO:0065003[protein-containing complex assembly] GO:0070062[extracellular exosome] GO:0071346[cellular response to interferon-gamma] GO:1905168[positive regulation of double-strand break repair via homologous recombination] GO:2000146[negative regulation of cell motility] GO:2000601[positive regulation of Arp2/3 complex-mediated actin nucleation]
The Human Protein Atlas project is funded
