WASF1 Gene: WASP Family Member 1
Key regulator of actin cytoskeleton dynamics and neuronal development
Gene Information Card
| Symbol | WASF1 |
|---|---|
| Full Name | WASP family member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q21 |
| NCBI Gene ID | 8936 ncbi.nlm.nih.gov/gene/8936 |
| Ensembl ID | ENSG00000112290 |
| UniProt ID | Q92558 |
| OMIM ID | 605035 |
| HGNC ID | 12732 |
| Aliases | WAVE1, SCAR1, WASP-family protein member 1 |
Description
WASF1 (WASP family member 1) encodes a member of the WASP family of proteins that regulate actin polymerization through the Arp2/3 complex. The protein, also known as WAVE1, is involved in cytoskeletal remodeling, cell migration, and neuronal morphogenesis. Mutations in WASF1 are associated with autosomal dominant neurodevelopmental disorder with intellectual disability and speech delay.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with intellectual disability and speech delay | Heterozygous loss-of-function mutations in WASF1 impair actin dynamics in neurons, disrupting dendritic spine formation and synaptic function. | ClinVar, OMIM #618707 |
| Autism spectrum disorder | Rare WASF1 variants may contribute to ASD risk through altered neuronal connectivity. | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.5 | High |
| Testis | 10.2 | Medium |
| Lung | 5.1 | Low |
| Liver | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 35.0 | Neuronal cell line, high expression |
| HeLa | 12.4 | Cervical carcinoma, moderate expression |
| HEK293 | 8.7 | Embryonic kidney, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1516C>T (p.Arg506*) | Nonsense | Rare | Loss of function, truncation |
| c.1270G>A (p.Glu424Lys) | Missense | Rare | Likely damaging, altered protein function |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function, no translation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to haploinsufficiency are the primary mechanism in neurodevelopmental disorder.
Gain of Function (GOF)
Not reported for WASF1.
Dominant Negative (DN)
Possible for some missense variants, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • actin cytoskeleton organization (GO:0030036) | • actin filament polymerization (GO:0030041) |
| • regulation of actin filament polymerization (GO:0030833) | • synapse (GO:0045202) |
| • dendrite (GO:0030425) |
Pathways
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• Arp2/3 complex-mediated actin nucleation (Reactome: R-HSA-201681)
Protein Summary
WASF1 (WAVE1) is a 559-amino acid protein that contains a WHD domain, a basic region, a proline-rich region, and a VCA domain. It functions as a key activator of the Arp2/3 complex, promoting actin nucleation and branching. The protein is highly expressed in the brain and is critical for dendritic spine morphogenesis and synaptic plasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WASF1 Knockout HEK293 Cell Line | EDJ-KQ6406 | Human | 8936 | Details Get a Quote |
| WASF1 Knockout A-549 Cell Line | EDJ-KQ30439 | Human | 8936 | Details Get a Quote |
| WASF1 Knockout HCT 116 Cell Line | EDJ-KQ30440 | Human | 8936 | Details Get a Quote |
| WASF1 Knockout HeLa Cell Line | EDJ-KQ30441 | Human | 8936 | Details Get a Quote |
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