Version 5.4
Mus musculus Gene: Clcn1
Summary
InnateDB Gene IDBG-141596.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Clcn1
Gene Name chloride channel 1
Synonyms adr; Clc-1; Clc1; mto; myotonia; nmf355; SMCC1
Species Mus musculus
Ensembl Gene ENSMUSG00000029862
Encoded Proteins
IDBP-141598
chloride channel 1
IDBP-251263
chloride channel 1
IDBP-626859
chloride channel 1
IDBP-626860
chloride channel 1
IDBP-626861
chloride channel 1
IDBP-626862
chloride channel 1
IDBP-626863
chloride channel 1
IDBP-626867
chloride channel 1
IDBP-626870
chloride channel 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000188037:
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 6:42286685-42315756
Strand Forward strand
Band B2.1
Transcripts
ENSMUST00000031894 ENSMUSP00000031894
ENSMUST00000114684 ENSMUSP00000110332
ENSMUST00000164091 ENSMUSP00000131354
ENSMUST00000170028 ENSMUSP00000132154
ENSMUST00000163936 ENSMUSP00000130148
ENSMUST00000165780 ENSMUSP00000130550
ENSMUST00000169024 ENSMUSP00000130968
ENSMUST00000168660 ENSMUSP00000126045
ENSMUST00000163235 ENSMUSP00000132387
ENSMUST00000169902
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:0030554 adenyl nucleotide binding
Biological Process
GO:0006821 chloride transport
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:0016020 membrane
GO:0016021 integral component of membrane
GO:0034707 chloride channel complex
GO:0042383 sarcolemma
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000188037
View Gene Order
ENSBTAG00000009182
Not yet available
Pathways
NETPATH
REACTOME
REACT_196640
Stimuli-sensing channels pathway
REACT_262350
Ion channel transport pathway
REACT_253400
Transmembrane transport of small molecules pathway
KEGG
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
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
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.386757
RefSeq NM_013491 XM_006505474 XM_006505475
OMIM
CCDS CCDS39471
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas

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