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MGP000586

UniProt Annotations

Entry Information
Gene Namechloride channel, voltage-sensitive Ka
Protein EntryCLCKA_HUMAN
UniProt IDP51800
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=P51800-1; Sequence=Displayed; Name=2; IsoId=P51800-2; Sequence=VSP_044700; Note=No experimental confirmation available.; Name=3; IsoId=P51800-3; Sequence=VSP_045795; Note=No experimental confirmation available.;
DiseaseBartter syndrome 4B (BS4B) [MIM:613090]: A digenic, recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. Bartter syndrome type 4B is associated with sensorineural deafness. {ECO:0000269|PubMed:15044642, ECO:0000269|PubMed:18310267}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. Loss-of-function of both CLCNKA and CLCNKB results in the disease phenotype (PubMed:18310267). {ECO:0000269|PubMed:18310267}.
FunctionVoltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. May be important in urinary concentrating mechanisms.
SimilarityBelongs to the chloride channel (TC 2.A.49) family. CLCNKA subfamily. {ECO:0000305}.
SimilarityContains 2 CBS domains. {ECO:0000255|PROSITE- ProRule:PRU00703}.
Subcellular LocationMembrane; Multi-pass membrane protein.
SubunitHomodimer. Interacts with BSND. Forms heteromers with BSND in the thin ascending limb of Henle (By similarity). {ECO:0000250}.
Tissue SpecificityExpressed predominantly in the kidney. All nephron segments expressing BSND also express CLCNK proteins. {ECO:0000269|PubMed:11734858}.
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