{"results":[{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"P35523","secondaryAccessions":["A4D2H5","Q2M202"],"uniProtkbId":"CLCN1_HUMAN","entryAudit":{"firstPublicDate":"1994-06-01","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2010-11-02","entryVersion":224,"sequenceVersion":3},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"value":"Chloride channel protein 1"},"shortNames":[{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"8112288"}],"value":"ClC-1"}]},"alternativeNames":[{"fullName":{"value":"Chloride channel protein, skeletal muscle"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"8533761"},{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:2019"}],"value":"CLCN1"},"synonyms":[{"value":"CLC1"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10051520"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10962018"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12456816"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16027167"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22521272"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22641783"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26007199"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26502825"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26510092"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29809153"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31022181"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7951242"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8112288"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8130334"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9122265"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9565403"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9736777"}],"value":"Voltage-gated chloride channel involved in skeletal muscle excitability. Generates most of the plasma membrane chloride conductance in skeletal muscle fibers, stabilizes the resting membrane potential and contributes to the repolarization phase during action potential firing (PubMed:12456816, PubMed:16027167, PubMed:22521272, PubMed:22641783, PubMed:26007199, PubMed:26502825, PubMed:26510092, PubMed:7951242, PubMed:8112288, PubMed:8130334, PubMed:9122265, PubMed:9565403, PubMed:9736777). Forms a homodimeric channel where each subunit has its own ion conduction pathway. Conducts double-barreled currents controlled by two types of gates, two fast glutamate gates that control each subunit independently and a slow common gate that opens and shuts off both subunits simultaneously. Has a significant open probability at muscle resting potential and is further activated upon membrane depolarization (PubMed:10051520, PubMed:10962018, PubMed:29809153, PubMed:31022181). Permeable to small monovalent anions with ion selectivity for chloride > thiocyanate > bromide > nitrate > iodide (PubMed:9122265, PubMed:9565403)"}],"commentType":"FUNCTION"},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"chloride(in) = chloride(out)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:29823"},{"database":"ChEBI","id":"CHEBI:17996"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22641783"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31022181"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8112288"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8130334"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9122265"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9565403"}]}},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"thiocyanate(in) = thiocyanate(out)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:75347"},{"database":"ChEBI","id":"CHEBI:18022"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9122265"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9565403"}]}},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"bromide(in) = bromide(out)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:75383"},{"database":"ChEBI","id":"CHEBI:15858"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22641783"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9122265"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9565403"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"8112288"}]}},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"nitrate(in) = nitrate(out)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:34923"},{"database":"ChEBI","id":"CHEBI:17632"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22641783"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9122265"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9565403"}]}},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"iodide(out) = iodide(in)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:66324"},{"database":"ChEBI","id":"CHEBI:16382"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22641783"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9122265"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9565403"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"8112288"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10051520"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16027167"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31022181"}],"value":"Modulated by membrane voltage with depolarization favouring channel opening and hyperpolarization favouring channel closure. Inhibited by acidic pH and ATP binding due to a shift of voltage dependence of common gating to more positive voltages. Inhibited by 9-anthracene-carboxylic"}],"commentType":"ACTIVITY REGULATION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26502825"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29809153"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31022181"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"8112288"}],"value":"Homodimer"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"P35523","intActId":"EBI-10206780"},"interactantTwo":{"uniProtKBAccession":"Q92624","geneName":"APPBP2","intActId":"EBI-743771"},"numberOfExperiments":6,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P35523","intActId":"EBI-10206780"},"interactantTwo":{"uniProtKBAccession":"Q9UHD4","geneName":"CIDEB","intActId":"EBI-7062247"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P35523","intActId":"EBI-10206780"},"interactantTwo":{"uniProtKBAccession":"Q8IZU0","geneName":"FAM9B","intActId":"EBI-10175124"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P35523","intActId":"EBI-10206780"},"interactantTwo":{"uniProtKBAccession":"Q9NQX1-2","geneName":"PRDM5","intActId":"EBI-12859340"},"numberOfExperiments":3,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12456816"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26502825"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8112288"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9122265"}],"value":"Cell membrane","id":"SL-0039"},"topology":{"evidences":[{"evidenceCode":"ECO:0000255"}],"value":"Multi-pass membrane protein","id":"SL-9909"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q64347"}],"value":"Cell membrane, sarcolemma","id":"SL-0238"},"topology":{"evidences":[{"evidenceCode":"ECO:0000255"}],"value":"Multi-pass membrane protein","id":"SL-9909"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q64347"}],"value":"Cell membrane, sarcolemma, T-tubule","id":"SL-0505"},"topology":{"evidences":[{"evidenceCode":"ECO:0000255"}],"value":"Multi-pass membrane protein","id":"SL-9909"}}]},{"texts":[{"value":"Predominantly expressed in skeletal muscles"}],"commentType":"TISSUE SPECIFICITY"},{"commentType":"DISEASE","disease":{"diseaseId":"Myotonia congenita, autosomal dominant","diseaseAccession":"DI-01216","acronym":"MCAD","description":"A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. The autosomal dominant form (Thomsen disease) is less common and less severe than the autosomal recessive one (Becker disease). A milder form of autosomal dominant myotonia is characterized by isolated myotonia without muscle weakness, hypotrophy, or hypertrophy (myotonia levior).","diseaseCrossReference":{"database":"MIM","id":"160800"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10051520"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10962018"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12661046"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26096614"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27653901"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27666773"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7581380"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7981750"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8112288"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8533761"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8845168"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9122265"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9566422"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9736777"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Myotonia congenita, autosomal recessive","diseaseAccession":"DI-01247","acronym":"MCAR","description":"A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. 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