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

Gene ID: 1180, updated on 2-Sep-2018

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; Vega:OTTHUMG00000152695
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

Genomic context

See CLCN1 in Genome Data Viewer
Location:
7q34
Exon count:
23
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (143316126..143352008)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (143013219..143049097)

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 family with sequence similarity 131 member B Neighboring gene uncharacterized LOC101928397 Neighboring gene uncharacterized LOC100507507

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138361, MGC142055

Gene Ontology Provided by GOA

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

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_009815.1 RefSeqGene

    Range
    5001..40879
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000083.2NP_000074.2  chloride channel protein 1

    See identical proteins and their annotated locations for NP_000074.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the functional protein.
    Source sequence(s)
    AC073342, BC112156, Z25884
    Consensus CDS
    CCDS5881.1
    UniProtKB/Swiss-Prot
    P35523
    Related
    ENSP00000339867.2, OTTHUMP00000202223, ENST00000343257.6, OTTHUMT00000327420
    Conserved Domains (3) summary
    cd03683
    Location:117592
    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 ...
    cd04591
    Location:821869
    CBS_pair_EriC_assoc_euk_bac; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains in the EriC CIC-type chloride channels in eukaryotes and bacteria. These ion channels are proteins with a seemingly simple task of allowing the passive flow of ...
    pfam00654
    Location:170571
    Voltage_CLC; Voltage gated chloride channel

RNA

  1. NR_046453.1 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, BC143796

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    143316126..143352008
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011739.1XP_016867228.1  chloride channel protein 1 isoform X1

  2. XM_017011740.1XP_016867229.1  chloride channel protein 1 isoform X2

  3. XM_011515782.2XP_011514084.1  chloride channel protein 1 isoform X3

    Conserved Domains (4) summary
    cd04591
    Location:403451
    CBS_pair_EriC_assoc_euk_bac; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains in the EriC CIC-type chloride channels in eukaryotes and bacteria. These ion channels are proteins with a seemingly simple task of allowing the passive flow of ...
    pfam00571
    Location:187239
    CBS; CBS domain
    pfam00654
    Location:39153
    Voltage_CLC; Voltage gated chloride channel
    cl02915
    Location:39174
    Voltage_gated_ClC; CLC voltage-gated chloride channel. The ClC chloride channels catalyse the selective flow of Cl- ions across cell membranes, thereby regulating electrical excitation in skeletal muscle and the flow of salt and water across epithelial barriers. This ...
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