• Gene id: 1180

Gene Summary

• Gene Symbol: CLCN1   Gene   UCSC   Ensembl
• Aliases: CLC1
• Gene name: chloride voltage-gated channel 1
• Alternate names: chloride channel protein 1, chloride channel 1, skeletal muscle, chloride channel protein, skeletal muscle, chloride channel, voltage-sensitive 1, clC-1,
• Gene location: 7q34 (143316110: 143352082)     Exons: 23     NC_000007.14
• Gene summary(Entrez): 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
• OMIM: 118425

Protein Summary

• Protein general information: P35523  
  • Name: Chloride channel protein 1 (ClC 1) (Chloride channel protein, skeletal muscle)
  • Length: 988  
  • Mass: 108626
  • Tissue specificity: Predominantly expressed in skeletal muscles.
• Sequence:

  MEQSRSQQRGGEQSWWGSDPQYQYMPFEHCTSYGLPSENGGLQHRLRKDAGPRHNVHPTQIYGHHKEQFSDREQD
  IGMPKKTGSSSTVDSKDEDHYSKCQDCIHRLGQVVRRKLGEDGIFLVLLGLLMALVSWSMDYVSAKSLQAYKWSY
  AQMQPSLPLQFLVWVTFPLVLILFSALFCHLISPQAVGSGIPEMKTILRGVVLKEYLTMKAFVAKVVALTAGLGS
  GIPVGKEGPFVHIASICAAVLSKFMSVFCGVYEQPYYYSDILTVGCAVGVGCCFGTPLGGVLFSIEVTSTYFAVR
  NYWRGFFAATFSAFVFRVLAVWNKDAVTITALFRTNFRMDFPFDLKELPAFAAIGICCGLLGAVFVYLHRQVMLG
  VRKHKALSQFLAKHRLLYPGIVTFVIASFTFPPGMGQFMAGELMPREAISTLFDNNTWVKHAGDPESLGQSAVWI
  HPRVNVVIIIFLFFVMKFWMSIVATTMPIPCGGFMPVFVLGAAFGRLVGEIMAMLFPDGILFDDIIYKILPGGYA
  VIGAAALTGAVSHTVSTAVICFELTGQIAHILPMMVAVILANMVAQSLQPSLYDSIIQVKKLPYLPDLGWNQLSK
  YTIFVEDIMVRDVKFVSASYTYGELRTLLQTTTVKTLPLVDSKDSMILLGSVERSELQALLQRHLCPERRLRAAQ
  EMARKLSELPYDGKARLAGEGLPGAPPGRPESFAFVDEDEDEDLSGKSELPPSLALHPSTTAPLSPEEPNGPLPG
  HKQQPEAPEPAGQRPSIFQSLLHCLLGRARPTKKKTTQDSTDLVDNMSPEEIEAWEQEQLSQPVCFDSCCIDQSP
  FQLVEQTTLHKTHTLFSLLGLHLAYVTSMGKLRGVLALEELQKAIEGHTKSGVQLRPPLASFRNTTSTRKSTGAP
  PSSAENWNLPEDRPGATGTGDVIAASPETPVPSPSPEPPLSLAPGKVEGELEELELVESPGLEEELADILQGPSL
  RSTDEEDEDELIL

• Structural information:
  • Protein Domains: (609..66-)
    (/note="CBS-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00703-)
    (821..87-)
    (/note="CBS-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00703"-)
  • Interpro: IPR000644  IPR014743  IPR001807  IPR002243  
  • Prosite: PS51371
  • PDB: 6COY 6COZ 6QV6 6QVB 6QVC 6QVD 6QVU
  • PDBsum: 6COY 6COZ 6QV6 6QVB 6QVC 6QVD 6QVU
  • STRING: ENSP00000339867
• Other Databases: GeneCards:  CLCN1  Malacards:  CLCN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005247	voltage-gated chloride channel activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0006821	chloride transport	IBA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005887	integral component of plasma membrane	IC	cellular component
GO:1902476	chloride transmembrane transport	IMP	biological process
GO:1902476	chloride transmembrane transport	IMP	biological process
GO:1902476	chloride transmembrane transport	IMP	biological process
GO:0005247	voltage-gated chloride channel activity	IMP	molecular function
GO:0005247	voltage-gated chloride channel activity	IMP	molecular function
GO:0006936	muscle contraction	IMP	biological process
GO:0006936	muscle contraction	IMP	biological process
GO:0005247	voltage-gated chloride channel activity	IMP	molecular function
GO:0006821	chloride transport	IEA	biological process
GO:0005247	voltage-gated chloride channel activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0006821	chloride transport	IEA	biological process
GO:0034707	chloride channel complex	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005254	chloride channel activity	IEA	molecular function
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019227	neuronal action potential propagation	IEA	biological process
GO:0006821	chloride transport	IEA	biological process
GO:0042383	sarcolemma	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Non-dystrophic myotonia	KEGG:H01780
Myotonia congenita	KEGG:H00705
Non-dystrophic myotonia	KEGG:H01780
Myotonia congenita	KEGG:H00705
Myotonia congenita	PMID:7951242
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)