WASF1

Chr 6q21

WASP family member 1

Aliases:: WAVE1, SCAR1, KIAA0269, WAVE, WAVE-1
MANE:: ENST00000392589.6

OMIM: 605035 ↗NCBI: 8936 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

WASF1 · Q92558

v62025-08-01

Predicted Aligned Error matrix for WASF1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

66.2/ 100

Low

559 residues

Confidence breakdown

Very high(≥ 90)27%
Confident(70–90)15%
Low(50–70)22%
Very low(< 50)36%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

neurodevelopmental disorder with absent language and variable seizures
0.72
Intellectual disability
0.56
hereditary disease
0.41
complex neurodevelopmental disorder
0.37
Epileptic encephalopathy
0.33
neurodegenerative disease
0.20
hereditary ataxia
0.12
Oral leukoplakia
0.11
genetic developmental and epileptic encephalopathy
0.08
esophageal ulcer
0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Actin-binding protein WASF1

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)