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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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WASHC1
WASH complex subunit 1
Chromosome 9 · 9p24.3
NCBI Gene: 100287171Ensembl: ENSG00000181404.18HGNC: HGNC:24361UniProt: A8K0Z3
47PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
exocystprotein bindingubiquitin protein ligase bindingalpha-tubulin bindingdiabetes mellitusesophageal squamous cell carcinomaneoplasmesophageal cancer
✦AI Summary

WASHC1 encodes a core component of the WASH complex, a nucleation-promoting factor that recruits and activates the Arp2/3 complex to generate branched actin filaments at endosomal membranes 1. The primary function involves endosomal tubule fission during cargo sorting and recycling of transmembrane receptors including the LDL receptor, scavenger receptor B type I, and T-cell receptors 2. WASHC1 facilitates cholesterol homeostasis by regulating hepatic LDL and HDL clearance; hepatic WASHC1 ablation elevates plasma cholesterol and reduces surface expression of lipid receptors 2. Intestinal WASHC1 deficiency impairs cholesterol absorption and alters bile acid composition, indicating WASHC1's role in lipid metabolism across tissues 3. Beyond endosomal trafficking, nuclear WASHC1 promotes cell survival under replication stress by facilitating MCM2-7 complex loading at DNA replication origins, maintaining chr9 stability 4. WASHC1 also negatively regulates autophagy and coordinates exocytosis of matrix metalloproteinase-14 during invasive cell migration. Recent genomic analysis reveals functional complexity: while WASHC1 on chromosome 9 was historically considered the primary WASH1 gene, LOC124908094 on chromosome 9 appears to be the predominant functional WASH1 coding gene, with WASHC1 potentially being a pseudogene 56. Clinical relevance includes associations with developmental and neurological disorders through WASH complex dysfunction.

Sources cited
1
WASH proteins function as nucleation-promoting factors for Arp2/3 complex driving branched actin filament generation at multiple cellular locations including endosomes
PMID: 28646090
2
Hepatic WASHC1 is required for efficient LDL and HDL cholesterol clearance; WASHC1 ablation reduces surface levels of LDL receptor, LRP1, and scavenger receptor B type I
PMID: 31167970
3
Intestinal WASHC1 deficiency impairs cholesterol absorption and alters bile acid composition, demonstrating WASH complex importance in intestinal lipid homeostasis
PMID: 38086439
4
Nuclear WASHC1 interacts with MCM2-7 complex and promotes cell survival under replication stress by facilitating MCM protein loading at DNA replication origins
PMID: 35733063
5
LOC124908094 on chromosome 20 is the likely functional WASH1 coding gene; WASHC1 on chromosome 9 is likely a pseudogene derived from WASH8P
PMID: 37398104
6
WASHC1 mutations identified in PHMG-p-induced lung carcinogenesis associated with impaired DNA repair mechanisms
PMID: 38464973
7
WASHC1 (WASH1) binding to ubiquitin-associated domain of p62 impairs recognition and clearance of damaged mitochondria, suppressing mitophagy
PMID: 41740506
8
WASHC1 is listed among genes with somatic mutations in PHMG-p-induced lung carcinogenesis
PMID: 38464973
Disease Associationsⓘ20
diabetes mellitusOpen Targets
0.26Weak
esophageal squamous cell carcinomaOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.05Suggestive
esophageal cancerOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
Parkinson diseaseOpen Targets
0.02Suggestive
esophageal carcinomaOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
experimental autoimmune encephalomyelitisOpen Targets
0.01Suggestive
hyperinsulinemic hypoglycemia, familial, 4Open Targets
0.01Suggestive
cervical cancerOpen Targets
0.01Suggestive
ulcerative colitisOpen Targets
0.01Suggestive
triple-negative breast cancerOpen Targets
0.01Suggestive
breast neoplasmOpen Targets
0.01Suggestive
anemiaOpen Targets
0.01Suggestive
Neurodevelopmental disorderOpen Targets
0.01Suggestive
neoplasm of esophagusOpen Targets
0.01Suggestive
hereditary spastic paraplegiaOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
Wiskott-Aldrich syndromeOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LOC124908094Co-mentioned in literature100%CAPZA1Protein interaction100%CAPZBProtein interaction100%SNX27Protein interaction100%CCDC93Protein interaction99%IGF2RProtein interaction80%
Tissue Expression6 tissues
Ovary
100%
Liver
82%
Lung
79%
Bone Marrow
64%
Brain
36%
Heart
20%
Gene Interaction Network
Click a node to explore
WASHC1LOC124908094CAPZA1CAPZBSNX27CCDC93IGF2R
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt A8K0Z3
View on AlphaFold ↗
RankingsWhere WASHC1 stands among ~20K protein-coding genes
  • #9,287of 20,598
    Most Researched47
Genes detectedWASHC1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Cellular functions of WASP family proteins at a glance.
PMID: 28646090
J Cell Sci · 2017
1.00
2
Deciphering the toxicity of polyhexamethylene guanidine phosphate in lung carcinogenesis: Mutational profiles and molecular mechanisms.
PMID: 39577803
Chemosphere · 2024
0.90
3
The hepatic WASH complex is required for efficient plasma LDL and HDL cholesterol clearance.
PMID: 31167970
JCI Insight · 2019
0.80
4
p300-mediated histone H3K18 lactylation promotes mitochondrial ROS accumulation via mitophagy inhibition to potentiate dopamine agonists efficacy in prolactinomas.
PMID: 41740506
Redox Biol · 2026
0.70
5
The T2T-CHM13 reference assembly uncovers essential WASH1 and GPRIN2 paralogues.
PMID: 38464973
Bioinform Adv · 2024
0.60