WASHC5
WASH Complex Subunit 5
Gene Information Card
| Symbol | WASHC5 |
|---|---|
| Full Name | WASH Complex Subunit 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q24.13 |
| NCBI Gene ID | 9897 ncbi.nlm.nih.gov/gene/9897 |
| Ensembl ID | ENSG00000104951 |
| UniProt ID | Q8TBP0 |
| OMIM ID | 610657 |
| HGNC ID | 28964 |
| Aliases | KIAA0196, strumpellin, WASH5 |
Description
WASHC5 encodes strumpellin, a core component of the WASH (Wiskott-Aldrich syndrome protein and SCAR homologue) complex. The WASH complex activates the Arp2/3 complex to promote actin polymerization, essential for endosomal trafficking, cell motility, and ciliary function. Mutations in WASHC5 cause hereditary spastic paraplegia type 8 (SPG8) and Ritscher-Schinzel syndrome (RSS), a ciliopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Spastic Paraplegia 8 (SPG8) | Loss-of-function mutations impair WASH complex assembly, disrupting endosomal actin dynamics and axonal transport in motor neurons. | ClinVar, OMIM |
| Ritscher-Schinzel Syndrome (RSS) | Biallelic missense mutations reduce WASH complex stability, leading to defective ciliogenesis and craniofacial/cardiac anomalies. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.9 | Medium |
| Heart | 6.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| SH-SY5Y | 11.8 | Neuronal model |
| HeLa | 9.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1849C>T (p.Arg617Trp) | Missense | Rare | Dominant negative; disrupts WASH complex interaction |
| c.3491G>A (p.Arg1164Gln) | Missense | Rare | Loss of function; associated with SPG8 |
| c.1525C>T (p.Arg509*) | Nonsense | Very rare | Loss of function; truncation leads to nonsense-mediated decay |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause haploinsufficiency in SPG8.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg617Trp) interfere with WASH complex assembly, acting as dominant negatives.
View complete mutation data：
Gene Ontology (GO)
| • Actin nucleation | • Arp2/3 complex activation |
| • Endosomal transport | • Cilium assembly |
| • Protein homodimerization activity |
Pathways
• WASH complex in actin polymerization
• Endosomal trafficking
• Ciliogenesis
Protein Summary
Strumpellin (WASHC5) is a 1,223-amino-acid protein with a spectrin repeat domain and a C-terminal coiled-coil region. It scaffolds the WASH complex, linking it to endosomal membranes via FAM21. The protein is ubiquitously expressed, with highest levels in brain and testis. Its dysfunction underlies neurodegenerative and developmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WASHC5 Knockout HEK293 Cell Line | EDJ-KQ6809 | Human | 9897 | Details Get a Quote |
| WASHC5 Knockout A-549 Cell Line | EDJ-KQ31311 | Human | 9897 | Details Get a Quote |
| WASHC5 Knockout HCT 116 Cell Line | EDJ-KQ31312 | Human | 9897 | Details Get a Quote |
| WASHC5 Knockout HeLa Cell Line | EDJ-KQ31313 | Human | 9897 | Details Get a Quote |
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