CLCC1: Chloride Channel CLIC-Like 1
A gene encoding a chloride channel protein involved in cellular ion homeostasis and linked to retinal degeneration.
Gene Information Card
| Symbol | CLCC1 |
|---|---|
| Full Name | Chloride Channel CLIC-Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p13.3 |
| NCBI Gene ID | 23155 ncbi.nlm.nih.gov/gene/23155 |
| Ensembl ID | ENSG00000117525 |
| UniProt ID | Q96S66 |
| OMIM ID | 617539 |
| HGNC ID | 29518 |
| Aliases | MCLC, MCLC1, FLJ20254 |
Description
CLCC1 (Chloride Channel CLIC-Like 1) is a protein-coding gene located on chromosome 1p13.3. It encodes a transmembrane protein that functions as a chloride ion channel, primarily localized to the endoplasmic reticulum. The protein is involved in maintaining cellular ion homeostasis and has been implicated in the pathogenesis of autosomal recessive retinitis pigmentosa (RP). CLCC1 is expressed in various tissues, with notable levels in the retina, and its mutations are associated with retinal degeneration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa (autosomal recessive) | Loss-of-function mutations in CLCC1 disrupt chloride ion homeostasis in retinal cells, leading to photoreceptor degeneration. | ClinVar, OMIM #617539 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 15.2 | High |
| Brain | 8.5 | Medium |
| Lung | 6.1 | Medium |
| Heart | 4.3 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 12.4 | High expression relevant to retinal function |
| HEK293 | 9.1 | Moderate expression |
| HeLa | 7.3 | Moderate expression |
| HepG2 | 5.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.154G>A (p.Gly52Arg) | Missense | Rare | Likely loss of function; associated with retinitis pigmentosa |
| c.437T>C (p.Leu146Pro) | Missense | Rare | Likely loss of function; associated with retinitis pigmentosa |
| c.832C>T (p.Arg278Trp) | Missense | Rare | Uncertain significance; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Gly52Arg, p.Leu146Pro) reduce chloride channel activity, impairing ER ion homeostasis and causing retinal degeneration.
Gain of Function (GOF)
No gain-of-function mutations reported for CLCC1.
Dominant Negative (DN)
No dominant-negative mutations reported; all known disease-associated mutations are recessive.
View complete mutation data：
Gene Ontology (GO)
| • chloride channel activity (GO:0005254) | • integral component of membrane (GO:0016021) |
| • endoplasmic reticulum (GO:0005783) | • chloride transport (GO:0006821) |
| • transmembrane transport (GO:0055085) |
Pathways
• Ion channel transport (Reactome: R-HSA-983712)
• Retina homeostasis (GeneCards inferred)
Protein Summary
The CLCC1 protein (UniProt Q96S66) is a 437-amino acid transmembrane chloride channel localized to the endoplasmic reticulum. It belongs to the CLIC (chloride intracellular channel) family but is structurally distinct. The protein forms homodimers and mediates chloride ion flux across the ER membrane, crucial for maintaining ionic balance and cellular function. Mutations in CLCC1 disrupt this channel activity, leading to ER stress and photoreceptor cell death in retinitis pigmentosa.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLCC1 Knockout HEK293 Cell Line | EDJ-KQ7173 | Human | 23155 | Details Get a Quote |
| CLCC1 Knockout A-549 Cell Line | EDJ-KQ33421 | Human | 23155 | Details Get a Quote |
| CLCC1 Knockout HCT 116 Cell Line | EDJ-KQ33422 | Human | 23155 | Details Get a Quote |
| CLCC1 Knockout HeLa Cell Line | EDJ-KQ33423 | Human | 23155 | Details Get a Quote |
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