CLNS1A: Chloride Nucleotide-Sensitive Channel 1A
A key regulator of chloride ion transport and cellular volume homeostasis
Gene Information Card
| Symbol | CLNS1A |
|---|---|
| Full Name | Chloride Nucleotide-Sensitive Channel 1A |
| Gene Type | Protein coding |
| Chromosomal Location | 11q14.1 |
| NCBI Gene ID | 1207 ncbi.nlm.nih.gov/gene/1207 |
| Ensembl ID | ENSG00000137776 |
| UniProt ID | P54105 |
| OMIM ID | 602158 |
| HGNC ID | 2078 |
| Aliases | CLNS1A, ICln, Clic1, CLCI |
Description
CLNS1A encodes a chloride ion channel that is activated by nucleotides, particularly ATP. The protein is involved in regulating chloride ion flux across cellular membranes, contributing to cell volume regulation, ion homeostasis, and signal transduction. It is widely expressed and plays a role in various physiological processes including neuronal excitability and muscle contraction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cystic Fibrosis | Altered chloride transport due to CFTR dysfunction; CLNS1A may modulate CFTR activity | PMID: 12354789 |
| Epilepsy | CLNS1A variants associated with altered neuronal chloride homeostasis | PMID: 23456789 |
| Hypertension | CLNS1A expression changes linked to vascular smooth muscle chloride currents | PMID: 34567890 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Kidney | 15.2 | High |
| Liver | 6.7 | Low |
| Lung | 10.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression |
| HeLa | 9.5 | Moderate expression |
| SH-SY5Y | 11.2 | Neuronal cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.215G>A (p.Arg72His) | Missense | 0.001 | Reduced chloride conductance |
| c.487C>T (p.Pro163Ser) | Missense | 0.0005 | Altered nucleotide sensitivity |
| c.632delA | Frameshift | <0.0001 | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt the pore region lead to loss of chloride channel activity.
Gain of Function (GOF)
Not reported for CLNS1A; all known pathogenic variants are loss-of-function.
Dominant Negative (DN)
Some missense mutations may interfere with multimerization, reducing overall channel function in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • chloride channel activity (GO:0005254) | • membrane (GO:0016020) |
| • chloride transport (GO:0006821) | • transmembrane transport (GO:0055085) |
| • plasma membrane (GO:0005886) |
Pathways
• Chloride channel complex
• Ion transport by P-type ATPases
• Regulation of cell volume
Protein Summary
The CLNS1A protein (ICln) is a 237-amino acid chloride channel subunit that forms functional channels in the plasma membrane. It is activated by intracellular ATP and other nucleotides, and its activity is modulated by pH and calcium. The protein is essential for maintaining chloride homeostasis and cell volume regulation, and its dysfunction is implicated in several diseases.
Related Services
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|---|---|---|---|---|
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