Gene Gene information from NCBI Gene database.
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
SNPs SNP information provided by dbSNP.
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.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605035 12732 ENSG00000112290
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Epileptic encephalopathy Pathogenic rs1562159088 RCV001003962
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability Pathogenic; Likely pathogenic rs1562159088, rs1562159562, rs1562159599, rs778229060 RCV000681443
RCV000681442
RCV000681444
RCV000986123
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with absent language and variable seizures Likely pathogenic; Pathogenic rs2114445929, rs2534225978, rs2534240781, rs2534211115, rs1562159088, rs1562159562, rs1562159599 RCV001839136
RCV003236527
RCV003388877
RCV004595300
RCV000984537
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abetalipoproteinemia Abetalipoproteinemia BEFREE 28087633
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 572495
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 28103522, 29171012, 30841784
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 27137742, 28103522, 29154170, 29171012, 30841784, 30852375
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 29035103
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 30841531
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 29656278
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 27431690, 28675949, 31750692
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 28281572 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 28281572
★☆☆☆☆
Found in Text Mining only