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CLCN1 chloride voltage-gated channel 1 [ Homo sapiens (human) ]

Gene ID: 1180, updated on 27-Nov-2024

Summary

Official Symbol
CLCN1provided by HGNC
Official Full Name
chloride voltage-gated channel 1provided by HGNC
Primary source
HGNC:HGNC:2019
See related
Ensembl:ENSG00000188037 MIM:118425; AllianceGenome:HGNC:2019
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CLC1
Summary
The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See CLCN1 in Genome Data Viewer
Location:
7q34
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (143316111..143352083)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (144671527..144707513)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (143013204..143049176)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene caspase 2 Neighboring gene RNA, 7SL, cytoplasmic 481, pseudogene Neighboring gene histidine triad nucleotide binding protein 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18721 Neighboring gene Sharpr-MPRA regulatory region 4117 Neighboring gene family with sequence similarity 131 member B Neighboring gene FAM131B antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26792 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:143077234-143078134 Neighboring gene FAM131B antisense RNA 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC138361, MGC142055

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
enables voltage-gated chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables voltage-gated chloride channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
involved_in chloride transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in chloride transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neuronal action potential propagation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in T-tubule IEA
Inferred from Electronic Annotation
more info
 
part_of chloride channel complex IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane IC
Inferred by Curator
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
chloride channel protein 1
Names
chloride channel 1, skeletal muscle
chloride channel protein, skeletal muscle
chloride channel, voltage-sensitive 1
clC-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009815.2 RefSeqGene

    Range
    4986..40958
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000083.3NP_000074.3  chloride channel protein 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the functional protein.
    Source sequence(s)
    AC073342, AC093673
    Consensus CDS
    CCDS5881.1
    UniProtKB/Swiss-Prot
    A4D2H5, P35523, Q2M202
    UniProtKB/TrEMBL
    A0A3B3IU72
    Related
    ENSP00000339867.2, ENST00000343257.7
    Conserved Domains (3) summary
    cd03683
    Location:131592
    ClC_1_like; ClC-1-like chloride channel proteins. This CD includes isoforms ClC-0, ClC-1, ClC-2 and ClC_K. ClC-1 is expressed in skeletal muscle and its mutation leads to both recessively and dominantly-inherited forms of muscle stiffness or myotonia. ClC-K is ...
    cd02205
    Location:610820
    CBS_pair_SF; CBS repeat [structural motif]
    cl15354
    Location:605869
    CBS_pair_SF; Two tandem repeats of the cystathionine beta-synthase (CBS pair) domains superfamily

RNA

  1. NR_046453.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site and lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC073342, AC093673

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    143316111..143352083
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    144671527..144707513
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)