Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	8936
Gene name	WASP family member 1
Gene symbol	WASF1
Synonyms (NCBI Gene)	NEDALVSSCAR1WAVEWAVE-1WAVE1
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

Show/Hide all (4)

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

Show/Hide all (53)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023340	hsa-miR-122-5p	Microarray	17612493
MIRT052008	hsa-let-7b-5p	CLASH	23622248
MIRT565012	hsa-miR-4694-3p	PAR-CLIP	20371350
MIRT565009	hsa-miR-411-5p	PAR-CLIP	20371350
MIRT565011	hsa-miR-873-5p	PAR-CLIP	20371350
MIRT565010	hsa-miR-5093	PAR-CLIP	20371350
MIRT565009	hsa-miR-411-5p	PAR-CLIP	20371350
MIRT565008	hsa-miR-6505-5p	PAR-CLIP	20371350
MIRT565012	hsa-miR-4694-3p	PAR-CLIP	20371350
MIRT565009	hsa-miR-411-5p	PAR-CLIP	20371350
MIRT565011	hsa-miR-873-5p	PAR-CLIP	20371350
MIRT565010	hsa-miR-5093	PAR-CLIP	20371350
MIRT565009	hsa-miR-411-5p	PAR-CLIP	20371350
MIRT565008	hsa-miR-6505-5p	PAR-CLIP	20371350
MIRT1488640	hsa-miR-140-5p	CLIP-seq
MIRT1488641	hsa-miR-200b	CLIP-seq
MIRT1488642	hsa-miR-200c	CLIP-seq
MIRT1488643	hsa-miR-299-5p	CLIP-seq
MIRT1488644	hsa-miR-3127-5p	CLIP-seq
MIRT1488645	hsa-miR-338-5p	CLIP-seq
MIRT1488646	hsa-miR-3545-5p	CLIP-seq
MIRT1488647	hsa-miR-374c	CLIP-seq
MIRT1488648	hsa-miR-377	CLIP-seq
MIRT1488649	hsa-miR-410	CLIP-seq
MIRT1488650	hsa-miR-429	CLIP-seq
MIRT1488651	hsa-miR-4460	CLIP-seq
MIRT1488652	hsa-miR-4474-5p	CLIP-seq
MIRT1488653	hsa-miR-4704-5p	CLIP-seq
MIRT1488654	hsa-miR-4720-3p	CLIP-seq
MIRT1488655	hsa-miR-4727-3p	CLIP-seq
MIRT1488656	hsa-miR-4804-3p	CLIP-seq
MIRT1488657	hsa-miR-548p	CLIP-seq
MIRT1488658	hsa-miR-655	CLIP-seq
MIRT1488659	hsa-miR-1305	CLIP-seq
MIRT1488660	hsa-miR-29a	CLIP-seq
MIRT1488661	hsa-miR-29b	CLIP-seq
MIRT1488662	hsa-miR-29c	CLIP-seq
MIRT1488663	hsa-miR-3659	CLIP-seq
MIRT1488664	hsa-miR-3922-5p	CLIP-seq
MIRT1488665	hsa-miR-4303	CLIP-seq
MIRT1488666	hsa-miR-4658	CLIP-seq
MIRT1488667	hsa-miR-4682	CLIP-seq
MIRT1488668	hsa-miR-4762-3p	CLIP-seq
MIRT1488669	hsa-miR-498	CLIP-seq
MIRT1488670	hsa-miR-574-5p	CLIP-seq
MIRT1488671	hsa-miR-630	CLIP-seq
MIRT1488663	hsa-miR-3659	CLIP-seq
MIRT1488665	hsa-miR-4303	CLIP-seq
MIRT1488666	hsa-miR-4658	CLIP-seq
MIRT1488667	hsa-miR-4682	CLIP-seq
MIRT1488668	hsa-miR-4762-3p	CLIP-seq
MIRT1488670	hsa-miR-574-5p	CLIP-seq
MIRT1488671	hsa-miR-630	CLIP-seq

Show/Hide all (43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	9843499, 11130076, 24439377, 25416956, 28514442, 32296183, 33961781, 35271311
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005856	Component	Cytoskeleton	TAS	10970852
GO:0005925	Component	Focal adhesion	IEA
GO:0006898	Process	Receptor-mediated endocytosis	IEA
GO:0006898	Process	Receptor-mediated endocytosis	ISS
GO:0007005	Process	Mitochondrion organization	IMP	29961568
GO:0015629	Component	Actin cytoskeleton	TAS	9843499
GO:0016601	Process	Rac protein signal transduction	IMP	21107423
GO:0030027	Component	Lamellipodium	IBA
GO:0030027	Component	Lamellipodium	IEA
GO:0030036	Process	Actin cytoskeleton organization	IBA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030036	Process	Actin cytoskeleton organization	IMP	29961568
GO:0030041	Process	Actin filament polymerization	TAS	9843499
GO:0031175	Process	Neuron projection development	IEA
GO:0031209	Component	SCAR complex	IBA
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
GO:0045202	Component	Synapse	IEA
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:0070161	Component	Anchoring junction	IEA
GO:0071933	Function	Arp2/3 complex binding	IBA
GO:0072673	Process	Lamellipodium morphogenesis	IEA
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	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
GO:2000601	Process	Positive regulation of Arp2/3 complex-mediated actin nucleation	IMP	21107423

MIM	HGNC	e!Ensembl
605035	12732	ENSG00000112290

Q92558

Protein name

Actin-binding protein WASF1 (Protein WAVE-1) (Verprolin homology domain-containing protein 1) (Wiskott-Aldrich syndrome protein family member 1) (WASP family protein member 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 formatio

PDB

3P8C , 4N78 , 7USC , 7USD , 7USE

Family and domains

Pfam

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

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in brain. Lowly expressed in testis, ovary, colon, kidney, pancreas, thymus, small intestine and peripheral blood.

Sequence

MPLVKRNIDPRHLCHTALPRGIKNELECVTNISLANIIRQLSSLSKYAEDIFGELFNEAH
SFSFRVNSLQERVDRLSVSVTQLDPKEEELSLQDITMRKAFRSSTIQDQQLFDRKTLPIP
LQETYDVCEQPPPLNILTPYRDDGKEGLKFYTNPSYFFDLWKEKMLQDTEDKRKEKRKQK
QKNLDRPHEPEKVPRAPHDRRREWQKLAQGPELAEDDANLLHKHIEVANGPASHFETRPQ
TYVDHMDGSYSLSALPFSQMSELLTRAEERVLVRPHEPPPPPPMHGAGDAKPIPTCISSA
TGLIENRPQSPATGRTPVFVSPTPPPPPPPLPSALSTSSLRASMTSTPPPPVPPPPPPPA
TALQAPAVPPPPAPLQIAPGVLHPAPPPIAPPLVQPSPPVARAAPVCETVPVHPLPQGEV
QGLPPPPPPPPLPPPGIRPSSPVTVTALAHPPSGLHPTPSTAPGPHVPLMPPSPPSQVIP
ASEPKRHPSTLPVISDARSVLLEAIRKGIQLRKVEEQREQEAKHERIENDVATILSRRIA
VEYSDSEDDSEFDEVDWLE

Sequence length

559

Interactions

View interactions

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Epileptic encephalopathy	Pathogenic	rs1562159088	RCV001003962
Intellectual disability	Pathogenic; Likely pathogenic	rs1562159088, rs1562159562, rs1562159599, rs778229060	RCV000681443 RCV000681442 RCV000681444 RCV000986123
Neurodevelopmental disorder with absent language and variable seizures	Likely pathogenic; Pathogenic	rs2114445929, rs2534225978, rs2534240781, rs2534211115, rs1562159088, rs1562159562, rs1562159599	RCV001839136 RCV003236527 RCV003388877 RCV004595300 RCV000984537 RCV000984536 RCV000984538

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
WASF1-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign	rs141069208, rs1338500564, rs2534229823, rs746992907, rs1469892375, rs142151316, rs138145693, rs1773094800, rs567692835, rs2114447003, rs147654100	RCV003906607 RCV003396926 RCV003427977 RCV003405880 RCV003427896 RCV003929163 RCV003959799 RCV003941465 RCV003937238 RCV003922000 RCV003957383
WASF1-related neurodevelopmental disorder	Uncertain significance	rs1774474402	RCV003221314

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Autism Spectrum Disorder	Associate	28281572
Autistic Disorder	Associate	29961568
Blood Platelet Disorders	Associate	15670045
Carcinoma Ovarian Epithelial	Associate	26662304
Glomus Tumor	Associate	19738042
Hematologic Neoplasms	Associate	19890377
Intellectual Disability	Associate	29961568
Leukemia	Associate	19890377
Neoplasm Metastasis	Associate	38171884
Neoplasms	Associate	26662304
Neurofibromatosis 1	Associate	19738042
Oculocerebrorenal Syndrome	Associate	30147856
Rhabdomyosarcoma	Associate	20956521
Seizures	Associate	29961568
Thrombocytosis	Associate	29420626
Vaccinia	Stimulate	15140980
Wiskott Aldrich Syndrome	Associate	15140980, 30539652

WASF1 (WASP family member 1)