Version 5.4
Homo sapiens Gene: CLCN1
Summary
InnateDB Gene IDBG-46012.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CLCN1
Gene Name chloride channel, voltage-sensitive 1
Synonyms CLC1
Species Homo sapiens
Ensembl Gene ENSG00000188037
Encoded Proteins
IDBP-46016
chloride channel 1, skeletal muscle
IDBP-387044
chloride channel 1, skeletal muscle
IDBP-387045
chloride channel 1, skeletal muscle
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:143316126-143352083
Strand Forward strand
Band q34
Transcripts
ENST00000343257 ENSP00000339867
ENST00000432192 ENSP00000395949
ENST00000455478 ENSP00000400027
ENST00000495612
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
Cellular Component
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0034707 chloride channel complex
GO:0042383 sarcolemma
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000029862
View Gene Order
ENSBTAG00000009182
Not yet available
Pathways
NETPATH
REACTOME
REACT_160189
Stimuli-sensing channels pathway
REACT_15518
Transmembrane transport of small molecules pathway
REACT_25300
Ion channel transport pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt P35523
TrEMBL Q75L28
UniProt Splice Variant
Entrez Gene 1180
UniGene Hs.121483
RefSeq NM_000083
HUGO HGNC:2019
OMIM 118425
CCDS CCDS5881
HPRD 00320
IMGT
EMBL AC093673 BC112156 BC113495 CH236959 L08261 L08262 L08263 L08264 L08265 M97820 Z25587 Z25752 Z25753 Z25754 Z25755 Z25756 Z25757 Z25758 Z25759 Z25760 Z25761 Z25762 Z25763 Z25764 Z25765 Z25766 Z25767 Z25768 Z25872 Z25884
GenPept AAI12157 AAI13496 AAS07500 CAA80996 CAA81103 CAB56792 CAB56814 EAL23786
RNA Seq Atlas 1180

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca