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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CLCC1
chloride channel CLIC like 1
Chromosome 1 · 1p13.3
NCBI Gene: 23155Ensembl: ENSG00000121940.17HGNC: HGNC:29675UniProt: A0A6Q8PG14
100PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
chloride channel activityprotein bindingendoplasmic reticulummembraneChudley-McCullough syndromeneurodegenerative diseaseretinitis pigmentosa 32Rare genetic deafness
✦AI Summary

CLCC1 is an anion-selective chloride channel localized to the endoplasmic reticulum (ER) membrane that functions as a critical regulator of cellular homeostasis through multiple interconnected mechanisms. Primary function: CLCC1 mediates chloride efflux from the ER lumen in a calcium-dependent, voltage-independent manner, compensating for positive charge loss during calcium release and maintaining ER calcium pools 1. This activity supports unfolded protein response (UPR) activation to prevent misfolded protein accumulation 12. Mechanism: CLCC1 operates at ER-mitochondria contact sites where it interacts with the mitochondrial microprotein PIGBOS to coordinate inter-organelle communication 1. The protein contains a domain homologous to yeast nuclear pore assembly factors, suggesting roles in membrane remodeling beyond ion transport 3. CLCC1 also promotes nuclear envelope fusion during herpesvirus egress and host nuclear morphogenesis 45, and regulates hepatic neutral lipid trafficking 3. Disease relevance: Rare heterozygous CLCC1 variants are associated with amyotrophic lateral sclerosis (ALS), with affected patients showing early-onset, rapid progression with spinal onset and cognitive involvement 67. CLCC1 dysfunction also links to retinitis pigmentosa and cholestatic liver disease pathogenesis 8. Additionally, SARS-CoV-2 ORF3A protein targets CLCC1 to dysregulate UPR during viral infection 2. Clinical significance: CLCC1 emerges as a pleiotrophic regulator with therapeutic potential in neurodegenerative diseases and viral infections through modulation of ER calcium signaling and protein quality control.

Sources cited
1
CLCC1 localizes to ER-mitochondria contact sites and interacts with PIGBOS to regulate unfolded protein response
PMID: 31653868
2
CLCC1 regulates hepatic neutral lipid flux and possesses a domain homologous to nuclear pore assembly factors
PMID: 38895340
3
CLCC1 variants identified in ALS patients with early onset, rapid progression, and spinal origin
PMID: 37916886
4
CLCC1 mutations disrupt ER function and promote ALS-like neurodegeneration in mice
PMID: 38030509
5
CLCC1 regulates ER calcium release in cholangiocytes relevant to cholestatic liver fibrosis
PMID: 40664817
6
CLCC1 promotes nuclear envelope fusion during herpesvirus nuclear egress and nuclear pore complex insertion
PMID: 39386602
7
CLCC1 facilitates nuclear envelope fusion in both viral and host nuclear export processes
PMID: 41271665
8
SARS-CoV-2 ORF3A protein interacts with CLCC1 to dysregulate the unfolded protein response
PMID: 37033725
Disease Associationsⓘ21
Chudley-McCullough syndromeOpen Targets
0.56Moderate
neurodegenerative diseaseOpen Targets
0.54Moderate
retinitis pigmentosa 32Open Targets
0.50Moderate
Rare genetic deafnessOpen Targets
0.49Moderate
deafnessOpen Targets
0.48Moderate
hearing loss, autosomal recessiveOpen Targets
0.46Moderate
genetic disorderOpen Targets
0.41Moderate
lysosomal storage diseaseOpen Targets
0.37Weak
breast-ovarian cancer, familial, susceptibility to, 2Open Targets
0.34Weak
cervical carcinomaOpen Targets
0.30Weak
Retinal dystrophyOpen Targets
0.29Weak
Hearing impairmentOpen Targets
0.12Weak
amyotrophic lateral sclerosisOpen Targets
0.11Weak
Blackfan-Diamond anemiaOpen Targets
0.08Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.08Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.08Suggestive
retinitis pigmentosaOpen Targets
0.07Suggestive
age-related macular degenerationOpen Targets
0.07Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.07Suggestive
X-linked retinal dysplasiaOpen Targets
0.07Suggestive
Retinitis pigmentosa 32UniProt
Pathogenic Variants1
NM_001377458.1(CLCC1):c.75C>A (p.Asp25Glu)Pathogenic
Retinitis pigmentosa 32|not provided|Retinal dystrophy
★★☆☆2024→ Residue 25
View on ClinVar ↗
Related Genes
UQCRFS1Protein interaction98%COX11Protein interaction82%COX15Protein interaction82%BEST3Shared pathway50%CLIC6Shared pathway50%BEST4Shared pathway33%
Tissue Expression6 tissues
Brain
100%
Heart
88%
Ovary
66%
Liver
49%
Lung
49%
Bone Marrow
29%
Gene Interaction Network
Click a node to explore
CLCC1UQCRFS1COX11COX15BEST3CLIC6BEST4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96S66
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.78LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.57 [0.42–0.78]
RankingsWhere CLCC1 stands among ~20K protein-coding genes
  • #4,772of 20,598
    Most Researched100 · top quartile
  • #4,884of 5,498
    Most Pathogenic Variants1
  • #6,361of 17,882
    Most Constrained (LOEUF)0.78
Genes detectedCLCC1
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
CLCC1 promotes hepatic neutral lipid flux and nuclear pore complex assembly.
PMID: 38895340
bioRxiv · 2024
1.00
2
Regulation of the ER stress response by a mitochondrial microprotein.
PMID: 31653868
Nat Commun · 2019
0.90
3
Mutation and clinical analysis of the CLCC1 gene in amyotrophic lateral sclerosis patients from Central South China.
PMID: 37916886
Ann Clin Transl Neurol · 2024
0.80
4
UndERACting ion channels in neurodegeneration.
PMID: 38030509
Trends Neurosci · 2024
0.70
5
Senkyunolide A ameliorates cholestatic liver fibrosis by controlling CLCC1-mediated endoplasmic reticulum Ca
PMID: 40664817
Acta Pharmacol Sin · 2025
0.60