WASHC3
WASH Complex Subunit 3
Gene Information Card
| Symbol | WASHC3 |
|---|---|
| Full Name | WASH Complex Subunit 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 84319 ncbi.nlm.nih.gov/gene/84319 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q8TF05 |
| OMIM ID | 615432 |
| HGNC ID | 29122 |
| Aliases | KIAA1201, C12orf44, WASH3 |
Description
WASHC3 encodes a subunit of the WASH (Wiskott-Aldrich syndrome protein and SCAR homolog) complex, which regulates actin polymerization on endosomal membranes. The WASH complex is essential for endosomal sorting, trafficking, and actin cytoskeleton dynamics. WASHC3 interacts with other WASH complex components to activate the Arp2/3 complex, facilitating actin nucleation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Disruption of WASH complex-mediated endosomal trafficking may impair neuronal development and synaptic function. | ClinVar; PMID: 27545674 |
| Cancer (pan-cancer) | Altered expression of WASHC3 may affect cell migration and invasion through actin cytoskeleton remodeling. | COSMIC; PMID: 29127120 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Lung | 6.1 | Low |
| Liver | 4.2 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney cells |
| HeLa | 7.5 | Cervical carcinoma cells |
| K562 | 5.9 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | <0.01% | Loss of function; predicted to cause nonsense-mediated decay |
| c.1672G>A (p.Gly558Arg) | Missense | <0.01% | Unknown; may affect protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg349*) lead to truncated protein and loss of WASH complex activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • actin cytoskeleton organization (GO:0030036) | • clathrin-coated endocytic vesicle (GO:0045334) |
| • SNARE complex binding (GO:0031201) | • plasma membrane (GO:0005886) |
Pathways
• WASH complex in endosomal trafficking (Reactome: R-HSA-917937)
• Arp2/3 complex-mediated actin nucleation (Reactome: R-HSA-5663222)
Protein Summary
WASHC3 is a 1082-amino acid protein that localizes to endosomes and the cytoplasm. It contains a WASH complex subunit domain and interacts with WASHC1, WASHC2, and WASHC4 to form the functional WASH complex. The complex activates the Arp2/3 complex to promote actin polymerization, crucial for endosomal sorting and cell motility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WASHC3 Knockout HEK293 Cell Line | EDJ-KQ10873 | Human | 51019 | Details Get a Quote |
| WASHC3 Knockout A-549 Cell Line | EDJ-KQ38550 | Human | 51019 | Details Get a Quote |
| WASHC3 Knockout HCT 116 Cell Line | EDJ-KQ38551 | Human | 51019 | Details Get a Quote |
| WASHC3 Knockout HeLa Cell Line | EDJ-KQ38552 | Human | 51019 | Details Get a Quote |
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