Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: CLCN1 (chloride voltage-gated channel 1) Homo sapiens
Analyze
Symbol: CLCN1
Name: chloride voltage-gated channel 1
Description: Exhibits protein homodimerization activity and voltage-gated chloride channel activity. Involved in chloride transmembrane transport and muscle contraction. Localizes to the integral component of plasma membrane. Implicated in myotonia congenita.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: chloride channel 1, skeletal muscle; chloride channel protein 1; chloride channel protein, skeletal muscle; chloride channel, voltage-sensitive 1; clC-1; CLC1; MGC138361; MGC142055
Orthologs:
Mus musculus (house mouse) : Clcn1 (chloride channel, voltage-sensitive 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Clcn1 (chloride voltage-gated channel 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Clcn1 (chloride voltage-gated channel 1)
Pan paniscus (bonobo/pygmy chimpanzee) : CLCN1 (chloride voltage-gated channel 1)
Canis lupus familiaris (dog) : CLCN1 (chloride voltage-gated channel 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Clcn1 (chloride voltage-gated channel 1)
Sus scrofa (pig) : CLCN1 (chloride voltage-gated channel 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387143,316,111 - 143,352,083 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh377143,013,219 - 143,049,097 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367142,723,341 - 142,759,219 (+)NCBINCBI36hg18NCBI36
Build 347142,530,055 - 142,565,934NCBI
Celera7137,850,084 - 137,885,958 (+)NCBI
Cytogenetic Map7q34NCBI
HuRef7137,350,584 - 137,386,478 (+)NCBIHuRef
CHM1_17142,950,106 - 142,986,018 (+)NCBICHM1_1
CRA_TCAGchr7v27142,415,337 - 142,451,223 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on CLCN1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 734112
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-11-26
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.