WASF1 (WASP family member 1)

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8936
Gene name Gene Name - the full gene name approved by the HGNC.
WASP family member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
WASF1
Synonyms (NCBI Gene) Gene synonyms aliases
NEDALVS, SCAR1, WAVE, WAVE-1, WAVE1
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q21
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs Other IDs Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs Other IDs Associated diseases
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
605035 12732 ENSG00000112290
Protein
Gene SNPs Other IDs Associated diseases
UniProt ID 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
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Other IDs Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Epileptic encephalopathy epileptic encephalopathy rs1562159088 N/A
Mental retardation intellectual disability rs1562159599, rs778229060, rs1562159088, rs1562159562 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Neurodevelopmental Disorders neurodevelopmental disorder N/A N/A GenCC
Show/Hide Text Mining Associations (17)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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