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HUMAN:CLCN1

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) CLCN1 (synonyms: CLC1)
Protein Name(s) Chloride channel protein 1

ClC-1 Chloride channel protein, skeletal muscle

External Links
UniProt P35523
EMBL Z25587
Z25884
CH236959
BC112156
BC113495
M97820
L08261
L08262
L08263
L08264
L08265
Z25753
Z25754
Z25755
Z25756
Z25757
Z25758
Z25759
Z25760
Z25761
Z25762
Z25763
Z25764
Z25765
Z25766
Z25767
Z25752
Z25768
Z25872
CCDS CCDS5881.1
PIR S37078
RefSeq NP_000074.2
UniGene Hs.121483
ProteinModelPortal P35523
SMR P35523
STRING 9606.ENSP00000339867
GuidetoPHARMACOLOGY 698
TCDB 2.A.49.2.1
PhosphoSite P35523
DMDM 311033468
PaxDb P35523
PRIDE P35523
DNASU 1180
Ensembl ENST00000343257
GeneID 1180
KEGG hsa:1180
UCSC uc003wcr.1
CTD 1180
GeneCards GC07P143013
GeneReviews CLCN1
HGNC HGNC:2019
MIM 118425
160800
255700
neXtProt NX_P35523
Orphanet 614
PharmGKB PA26546
eggNOG COG0038
GeneTree ENSGT00760000119109
HOGENOM HOG000231297
HOVERGEN HBG005332
InParanoid P35523
KO K05010
OMA FTFPPGM
OrthoDB EOG77WWCD
PhylomeDB P35523
TreeFam TF352264
Reactome REACT_160189
ChiTaRS CLCN1
GeneWiki CLCN1
GenomeRNAi 1180
NextBio 4876
PRO PR:P35523
Proteomes UP000005640
Bgee P35523
CleanEx HS_CLCN1
ExpressionAtlas P35523
Genevestigator P35523
GO GO:0034707
GO:0005887
GO:0005886
GO:0042383
GO:0030554
GO:0005254
GO:0005247
GO:1902476
GO:0034220
GO:0006936
GO:0019227
GO:0044070
GO:0055085
GO:0006810
Gene3D 1.10.3080.10
InterPro IPR000644
IPR014743
IPR001807
IPR002243
Pfam PF00571
PF00654
PRINTS PR00762
PR01112
SUPFAM SSF81340
PROSITE PS51371

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status
GO:0005254

chloride channel activity

PMID:0000037[1]

ECO:0000314

F

Figure 1 depicts an RT-PCR of mRNAs of CLC-1 through CLC-7. Chloride ion flux is a necessary part of corneal wound electric current in human corneal epithelium. Chloride channel proteins 2,3,4, 5, and 6, but chloride channel 1 is not involved.

complete
CACAO 9414

GO:0042493

response to drug

PMID:19153558[2]

ECO:0000314

P

Figure 2Ac depicts the increase in chloride sensing of drug by increase in pH. The quick response of chloride ions to drug implies the possibility of chloride channel drug targeting for inhibition of disease progression.

complete
CACAO 9415

part_of

GO:0005887

integral component of plasma membrane

PMID:26007199[3]

ECO:0000305

curator inference used in manual assertion

GO:0005247

C

Seeded From UniProt

complete

involved_in

GO:0006936

muscle contraction

PMID:26007199[3]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:1902476

chloride transmembrane transport

PMID:26007199[3]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0005247

voltage-gated chloride channel activity

PMID:26007199[3]

ECO:0000315

mutant phenotype evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0042803

protein homodimerization activity

PMID:26502825[4]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:1902476

chloride transmembrane transport

PMID:26502825[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0005247

voltage-gated chloride channel activity

PMID:26502825[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0005887

integral component of plasma membrane

PMID:26502825[4]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:1902476

chloride transmembrane transport

PMID:22521272[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0005247

voltage-gated chloride channel activity

PMID:22521272[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0006936

muscle contraction

PMID:22521272[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005887

integral component of plasma membrane

PMID:21873635[6]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0051116
PANTHER:PTN000913959
RGD:68435
UniProtKB:P35523

C

Seeded From UniProt

complete

part_of

GO:0042383

sarcolemma

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q64347
ensembl:ENSMUSP00000031894

C

Seeded From UniProt

complete

involved_in

GO:0019227

neuronal action potential propagation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q64347
ensembl:ENSMUSP00000031894

P

Seeded From UniProt

complete

involved_in

GO:0006821

chloride transport

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q64347
ensembl:ENSMUSP00000031894

P

Seeded From UniProt

complete

enables

GO:0005247

voltage-gated chloride channel activity

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR001807
InterPro:IPR002243

F

Seeded From UniProt

complete

involved_in

GO:0006821

chloride transport

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR001807
InterPro:IPR002243

P

Seeded From UniProt

complete

part_of

GO:0016020

membrane

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR001807
InterPro:IPR002243

C

Seeded From UniProt

complete

involved_in

GO:0055085

transmembrane transport

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR001807

P

Seeded From UniProt

complete

involved_in

GO:0034220

ion transmembrane transport

Reactome:R-HSA-983712

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005886

plasma membrane

Reactome:R-HSA-2744228

ECO:0000304

author statement supported by traceable reference used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005886

plasma membrane

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-1003
UniProtKB-SubCell:SL-0039

C

Seeded From UniProt

complete

enables

GO:0005254

chloride channel activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0869

F

Seeded From UniProt

complete

part_of

GO:0016020

membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0472

C

Seeded From UniProt

complete

part_of

GO:0034707

chloride channel complex

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0869

C

Seeded From UniProt

complete

involved_in

GO:0006821

chloride transport

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0869

P

Seeded From UniProt

complete

part_of

GO:0016021

integral component of membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0812

C

Seeded From UniProt

complete

involved_in

GO:0006811

ion transport

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0406

P

Seeded From UniProt

complete

involved_in

GO:0034765

regulation of ion transmembrane transport

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0851

P

Seeded From UniProt

complete

enables

GO:0005244

voltage-gated ion channel activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0851

F

Seeded From UniProt

complete

edit table

Notes

References

See Help:References for how to manage references in GONUTS.

  1. ↑ Hattori, M et al. (1975) Poly(8-aminoguanylic acid): formation of ordered self-structures and interaction with poly(cytidylic acid). Biochemistry 14 5033-45 PubMed GONUTS page
  2. ↑ Verkman, AS & Galietta, LJ (2009) Chloride channels as drug targets. Nat Rev Drug Discov 8 153-71 PubMed GONUTS page
  3. ↑ 3.0 3.1 3.2 3.3 Portaro, S et al. (2015) Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita. Neuromolecular Med. 17 285-96 PubMed GONUTS page
  4. ↑ 4.0 4.1 4.2 4.3 Ronstedt, K et al. (2015) Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations. Sci Rep 5 15382 PubMed GONUTS page
  5. ↑ 5.0 5.1 5.2 Ulzi, G et al. (2012) Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients. J. Neurol. Sci. 318 65-71 PubMed GONUTS page
  6. ↑ Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
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