WASF1 (WASP family member 1)

Gene

• Entrez ID: 8936
• Gene name: WASP family member 1
• Gene symbol: WASF1
• Synonyms: NEDALVS, SCAR1, WAVE, WAVE1
• Chromosome: 6
• Chromosome location: 6q21
• Summary: 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, 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. Wiskott-Aldrich syndrome is a disease of the immune system, likely due to defects in regulation of actin cytoskeleton. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs778229060	T>A,C,G	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1562159088	G>A	Pathogenic	Coding sequence variant, stop gained
rs1562159562	G>A	Pathogenic	Coding sequence variant, stop gained
rs1562159599	G>CCTGGC	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023340	hsa-miR-122-5p	Microarray	17612493
MIRT052008	hsa-let-7b-5p	CLASH	23622248
MIRT565008	hsa-miR-6505-5p	PAR-CLIP	20371350
MIRT565009	hsa-miR-411-5p	PAR-CLIP	20371350
MIRT565010	hsa-miR-5093	PAR-CLIP	20371350
MIRT565011	hsa-miR-873-5p	PAR-CLIP	20371350
MIRT565012	hsa-miR-4694-3p	PAR-CLIP	20371350

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	9843499, 24439377, 25416956, 28514442, 32296183
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005856	Component	Cytoskeleton	TAS	10970852
GO:0005925	Component	Focal adhesion	IEA
GO:0006898	Process	Receptor-mediated endocytosis	ISS
GO:0015629	Component	Actin cytoskeleton	TAS	9843499
GO:0016601	Process	Rac protein signal transduction	IMP	21107423
GO:0030027	Component	Lamellipodium	IBA	21873635
GO:0030036	Process	Actin cytoskeleton organization	IBA	21873635
GO:0030036	Process	Actin cytoskeleton organization	IMP	29961568
GO:0030041	Process	Actin filament polymerization	TAS	9843499
GO:0031209	Component	SCAR complex	IBA	21873635
GO:0031209	Component	SCAR complex	IMP	21107423
GO:0031267	Function	Small GTPase binding	IMP	21107423
GO:0032839	Component	Dendrite cytoplasm	IEA
GO:0032991	Component	Protein-containing complex	IDA	25097019
GO:0034237	Function	Protein kinase A regulatory subunit binding	IBA	21873635
GO:0051018	Function	Protein kinase A binding	IPI	25097019
GO:0051388	Process	Positive regulation of neurotrophin TRK receptor signaling pathway	IEA
GO:0065003	Process	Protein-containing complex assembly	NAS	10381382
GO:0070584	Process	Mitochondrion morphogenesis	IMP	29961568
GO:0071933	Function	Arp2/3 complex binding	IBA	21873635
GO:0072673	Process	Lamellipodium morphogenesis	IMP	29961568
GO:0097484	Process	Dendrite extension	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098885	Process	Modification of postsynaptic actin cytoskeleton	IEA
GO:0098939	Process	Dendritic transport of mitochondrion	IEA
GO:1990416	Process	Cellular response to brain-derived neurotrophic factor stimulus	ISS
GO:2000601	Process	Positive regulation of Arp2/3 complex-mediated actin nucleation	IBA	21873635
GO:2000601	Process	Positive regulation of Arp2/3 complex-mediated actin nucleation	IMP	21107423

Other IDs

• MIM: 605035
• HGNC: 12732
• e!Ensembl: ENSG00000112290

Protein

• UniProt ID: Q92558
• Protein name: Wiskott-Aldrich syndrome protein family member 1 (WASP family protein member 1) (Protein WAVE-1) (Verprolin homology domain-containing protein 1)
• Protein function: Downstream effector molecule involved in the transmission of signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. Promotes formation of actin filaments. Part of the WAVE complex that regulates lamellipodia formation (PubMed:29961568). The WAVE complex regulates actin filament reorganization via its interaction with the Arp2/3 complex (By similarity). As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity). Also involved in the regulation of mitochondrial dynamics (PubMed:29961568).
• PDB: 3P8C, 4N78
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02205	WH2	494 → 521	WH2 motif	Family

• Sequence:

  MPLVKRNIDPRHLCHTALPRGIKNELECVTNISLANIIRQLSSLSKYAEDIFGELFNEAH
  SFSFRVNSLQERVDRLSVSVTQLDPKEEELSLQDITMRKAFRSSTIQDQQLFDRKTLPIP
  LQETYDVCEQPPPLNILTPYRDDGKEGLKFYTNPSYFFDLWKEKMLQDTEDKRKEKRKQK
  QKNLDRPHEPEKVPRAPHDRRREWQKLAQGPELAEDDANLLHKHIEVANGPASHFETRPQ
  TYVDHMDGSYSLSALPFSQMSELLTRAEERVLVRPHEPPPPPPMHGAGDAKPIPTCISSA
  TGLIENRPQSPATGRTPVFVSPTPPPPPPPLPSALSTSSLRASMTSTPPPPVPPPPPPPA
  TALQAPAVPPPPAPLQIAPGVLHPAPPPIAPPLVQPSPPVARAAPVCETVPVHPLPQGEV
  QGLPPPPPPPPLPPPGIRPSSPVTVTALAHPPSGLHPTPSTAPGPHVPLMPPSPPSQVIP
  ASEPKRHPSTLPVISDARSVLLEAIRKGIQLRKVEEQREQEAKHERIENDVATILSRRIA
  VEYSDSEDDSEFDEVDWLE

• Sequence length: 559