WASHC1 Gene - WASH Complex Subunit 1
Essential regulator of endosomal actin polymerization and vesicle trafficking
Gene Information Card
| Symbol | WASHC1 |
|---|---|
| Full Name | WASH complex subunit 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p11.21 |
| NCBI Gene ID | 100287801 ncbi.nlm.nih.gov/gene/100287801 |
| Ensembl ID | ENSG00000204103 |
| UniProt ID | A8MTJ3 |
| OMIM ID | 616405 |
| HGNC ID | 37232 |
| Aliases | FAM39E, WASH1, WASH |
Description
WASHC1 encodes the core subunit of the WASH (Wiskott-Aldrich syndrome protein and SCAR homologue) complex, which activates the Arp2/3 complex to nucleate branched actin filaments on endosomal membranes. This actin polymerization is critical for endosomal sorting, trafficking, and receptor recycling. WASHC1 is ubiquitously expressed and plays a key role in cellular homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | Loss-of-function mutations impair endosomal actin dynamics, disrupting neuronal migration and synaptic function | ClinVar, OMIM |
| Intellectual disability | Homozygous missense variants reduce WASH complex stability and actin nucleation | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 11.8 | Moderate expression |
| SH-SY5Y | 9.4 | Neuronal model |
| HepG2 | 7.1 | Hepatocyte model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, no protein produced |
| c.226C>T (p.Arg76Trp) | Missense | Rare | Impaired WASH complex assembly |
| c.502_503del (p.Leu168fs) | Frameshift | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Homozygous or compound heterozygous loss-of-function variants cause neurodevelopmental disorders.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Arp2/3 complex-mediated actin nucleation (Reactome R-HSA-201681)
• Endosomal sorting complex required for transport (ESCRT) (Reactome R-HSA-917729)
Protein Summary
WASHC1 is a 471-amino acid protein that forms the core of the WASH complex. It contains a WHD (WASH homology domain) and a VCA (verprolin homology, cofilin homology, acidic) domain that binds and activates the Arp2/3 complex. The protein localizes to early and recycling endosomes, where it drives actin polymerization necessary for cargo sorting and vesicle scission.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WASHC1 Knockout HEK293 Cell Line | EDJ-KQ16125 | Human | 100287171 | Details Get a Quote |
| WASHC1 Knockout A-549 Cell Line | EDJ-KQ47293 | Human | 100287171 | Details Get a Quote |
| WASHC1 Knockout HCT 116 Cell Line | EDJ-KQ47294 | Human | 100287171 | Details Get a Quote |
| WASHC1 Knockout HeLa Cell Line | EDJ-KQ47295 | Human | 100287171 | Details Get a Quote |
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