InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CLCN1

Summary

InnateDB Protein

IDBP-46016.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CLCN1

Protein Name

chloride channel 1, skeletal muscle

Synonyms

CLC1;

Species

Homo sapiens

Ensembl Protein

ENSP00000339867

InnateDB Gene

IDBG-46012 (CLCN1)

Protein Structure

UniProt Annotation

Function

Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport.

Subcellular Localization

Membrane; Multi-pass membrane protein.

Disease Associations

Myotonia congenita, autosomal dominant (MCD) [MIM:160800]: 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). {ECO:0000269PubMed:7581380, ECO:0000269PubMed:7981750, ECO:0000269PubMed:8112288, ECO:0000269PubMed:8533761, ECO:0000269PubMed:9566422, ECO:0000269PubMed:9736777}. Note=The disease is caused by mutations affecting the gene represented in this entry.Myotonia congenita, autosomal recessive (MCR) [MIM:255700]: 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 recessive form (Becker disease) is more severe than the autosomal dominant one (Thomsen disease). {ECO:0000269PubMed:10215406, ECO:0000269PubMed:1379744, ECO:0000269PubMed:7874130, ECO:0000269PubMed:7951242, ECO:0000269PubMed:7981681, ECO:0000269PubMed:8571958}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Predominantly expressed in skeletal muscles.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005216	ion channel activity
GO:0005247	voltage-gated chloride channel activity
GO:0005254	chloride channel activity
GO:0030554	adenyl nucleotide binding

Biological Process

GO:0006810	transport
GO:0006821	chloride transport
GO:0006936	muscle contraction
GO:0019227	neuronal action potential propagation
GO:0034220	ion transmembrane transport
GO:0034765	regulation of ion transmembrane transport
GO:0044070	regulation of anion transport
GO:0055085	transmembrane transport
GO:1902476	chloride transmembrane transport