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Clcn1 chloride channel, voltage-sensitive 1 [ Mus musculus (house mouse) ]

Gene ID: 12723, updated on 24-Jan-2023

Summary

Official Symbol
Clcn1provided by MGI
Official Full Name
chloride channel, voltage-sensitive 1provided by MGI
Primary source
MGI:MGI:88417
See related
Ensembl:ENSMUSG00000029862 AllianceGenome:MGI:88417
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
adr; mto; Clc1; Clc-1; SMCC1; nmf355; myotonia
Summary
Predicted to enable protein homodimerization activity and voltage-gated chloride channel activity. Acts upstream of or within chloride transport and neuronal action potential propagation. Located in sarcolemma. Is expressed in central nervous system; early conceptus; heart; oocyte; and retina. Used to study myotonia congenita. Human ortholog(s) of this gene implicated in myotonia congenita. Orthologous to human CLCN1 (chloride voltage-gated channel 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in mammary gland adult (RPKM 3.1), cerebellum adult (RPKM 2.5) and 12 other tissues See more
Orthologs
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Genomic context

See Clcn1 in Genome Data Viewer
Location:
6 B2.1; 6 20.57 cM
Exon count:
25
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (42263552..42292698)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (42284851..42315764)

Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene transmembrane protein 139 Neighboring gene caspase 2 Neighboring gene predicted gene, 38797 Neighboring gene family with sequence similarity 131, member B Neighboring gene predicted gene, 24611 Neighboring gene zyxin Neighboring gene Eph receptor A1

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

General gene information

Markers

Homology

Clone Names

  • MGC124486

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables chloride channel activity IEA
Inferred from Electronic Annotation
more info
 
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
 
enables voltage-gated chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables voltage-gated chloride channel activity ISO
Inferred from Sequence Orthology
more info
 
enables voltage-gated monoatomic ion channel activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in chloride transmembrane transport ISO
Inferred from Sequence Orthology
more info
 
involved_in chloride transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within chloride transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in chloride transport ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in muscle contraction ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within neuronal action potential propagation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of monoatomic ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of chloride channel complex IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 
located_in sarcolemma IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
chloride channel protein 1
Names
arrested development of righting response
chloride channel protein, skeletal muscle

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.

mRNA and Protein(s)

  1. NM_013491.4NP_038519.1  chloride channel protein 1

    See identical proteins and their annotated locations for NP_038519.1

    Status: VALIDATED

    Source sequence(s)
    AC153915
    Consensus CDS
    CCDS39471.1
    UniProtKB/Swiss-Prot
    Q64347, Q9QVY5
    Related
    ENSMUSP00000031894.7, ENSMUST00000031894.13
    Conserved Domains (4) 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:827875
    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
    cl15354
    Location:610665
    CBS_pair; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...

RNA

  1. NR_176868.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC153915

RefSeqs of Annotated Genomes: Mus musculus 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 GRCm39 C57BL/6J

Genomic

  1. NC_000072.7 Reference GRCm39 C57BL/6J

    Range
    42263552..42292698
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036165796.1XP_036021689.1  chloride channel protein 1 isoform X1

    Conserved Domains (3) summary
    cd03683
    Location:28362
    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:380596
    CBS_pair_SF; CBS repeat [structural motif]
    cl15354
    Location:375645
    CBS_pair_SF; Two tandem repeats of the cystathionine beta-synthase (CBS pair) domains superfamily
  2. XM_036165798.1XP_036021691.1  chloride channel protein 1 isoform X2

    Conserved Domains (3) summary
    cl02915
    Location:1254
    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 ...
    cd02205
    Location:272488
    CBS_pair_SF; CBS repeat [structural motif]
    cl15354
    Location:267537
    CBS_pair_SF; Two tandem repeats of the cystathionine beta-synthase (CBS pair) domains superfamily
  3. XM_006505476.4XP_006505539.1  chloride channel protein 1 isoform X2

    Conserved Domains (3) summary
    cl02915
    Location:1254
    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 ...
    cd02205
    Location:272488
    CBS_pair_SF; CBS repeat [structural motif]
    cl15354
    Location:267537
    CBS_pair_SF; Two tandem repeats of the cystathionine beta-synthase (CBS pair) domains superfamily
  4. XM_036165797.1XP_036021690.1  chloride channel protein 1 isoform X2

    Conserved Domains (3) summary
    cl02915
    Location:1254
    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 ...
    cd02205
    Location:272488
    CBS_pair_SF; CBS repeat [structural motif]
    cl15354
    Location:267537
    CBS_pair_SF; Two tandem repeats of the cystathionine beta-synthase (CBS pair) domains superfamily

RNA

  1. XR_004942914.1 RNA Sequence

  2. XR_003956160.2 RNA Sequence