WASF1

Wiskott–Aldrich syndrome protein family member 1, also known as WASP-family verprolin homologous protein 1 (WAVE1), is a protein that in humans is encoded by the WASF1 gene.^[5][6][7]

WASF1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3P8C, 4N78
Identifiers
Aliases	WASF1, SCAR1, WAVE, WAVE1, WAS protein family member 1, WASP family member 1, NEDALVS
External IDs	OMIM: 605035; MGI: 1890563; HomoloGene: 2920; GeneCards: WASF1; OMA:WASF1 - orthologs
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6q21 Start 110,099,819 bp[1] End 110,180,004 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10 B1|10 22.07 cM Start 40,759,471 bp[2] End 40,814,566 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Region I of hippocampus proper Brodmann area 23 orbitofrontal cortex superior frontal gyrus postcentral gyrus entorhinal cortex primary visual cortex middle temporal gyrus prefrontal cortex Brodmann area 9 Top expressed in piriform cortex olfactory tubercle subiculum subdivision of hippocampus hippocampus proper Region I of hippocampus proper Temporal Lobe dentate gyrus Amygdala nucleus accumbens More reference expression data BioGPS More reference expression data
Gene ontology Molecular function actin binding protein binding protein kinase A binding protein-containing complex binding Cellular component cytoplasm mitochondrial outer membrane cell junction synapse cytoskeleton mitochondrion SCAR complex lamellipodium focal adhesion actin cytoskeleton protein-containing complex dendrite cytoplasm postsynapse Biological process actin filament polymerization Rac protein signal transduction positive regulation of Arp2/3 complex-mediated actin nucleation lamellipodium morphogenesis actin cytoskeleton organization neuron projection development positive regulation of neurotrophin TRK receptor signaling pathway dendrite extension receptor-mediated endocytosis cellular response to brain-derived neurotrophic factor stimulus protein-containing complex assembly modification of postsynaptic actin cytoskeleton dendritic transport of mitochondrion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8936 83767 Ensembl ENSG00000112290 ENSMUSG00000019831 UniProt Q92558 Q8R5H6 RefSeq (mRNA) NM_001024934 NM_001024935 NM_001024936 NM_003931 NM_031877 NM_001379453 NM_001379454 RefSeq (protein) NP_001020105 NP_001020106 NP_001020107 NP_003922 NP_114083 NP_001366382 NP_001366383 Location (UCSC) Chr 6: 110.1 – 110.18 Mb Chr 10: 40.76 – 40.81 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Function

The protein encoded by this gene, a member of the Wiskott–Aldrich syndrome protein (WASP) family, plays a critical role downstream of Rac, a Rho-family small GTPase, through its involvement in the WAVE regulatory complex in regulating the actin cytoskeleton required for membrane ruffling. It has been shown to associate with an actin nucleation core Arp2/3 complex while enhancing actin polymerization in vitro.

Clinical significance

Wiskott–Aldrich syndrome is a disease of the immune system, likely due to defects in regulation of actin cytoskeleton.^[7]

Interactions

WASF1 has been shown to interact with BAIAP2^[8] and Profilin 1.^[5]