Homo sapiens Protein: CLCNKA | |||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Summary | |||||||||||||||||||
InnateDB Protein | IDBP-91288.5 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | CLCNKA | ||||||||||||||||||
Protein Name | chloride channel Ka | ||||||||||||||||||
Synonyms | ClC-K1; CLCK1; hClC-Ka; | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000332771 | ||||||||||||||||||
InnateDB Gene | IDBG-91284 (CLCNKA) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | Voltage-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. | ||||||||||||||||||
Subcellular Localization | Membrane; Multi-pass membrane protein. | ||||||||||||||||||
Disease Associations | Bartter 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:0000269PubMed:15044642, ECO:0000269PubMed: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:0000269PubMed:18310267}. | ||||||||||||||||||
Tissue Specificity | Expressed predominantly in the kidney. All nephron segments expressing BSND also express CLCNK proteins. {ECO:0000269PubMed:11734858}. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
|
||||||||||||||||||
Gene Ontology | |||||||||||||||||||
Molecular Function |
|
||||||||||||||||||
Biological Process |
|
||||||||||||||||||
Cellular Component |
|
||||||||||||||||||
Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR000644
CBS domain IPR001807 Chloride channel, voltage gated IPR002250 Chloride channel ClC-K IPR014743 Chloride channel, core |
||||||||||||||||||
PFAM |
PF00571
PF00654 |
||||||||||||||||||
PRINTS |
PR00762
PR01119 |
||||||||||||||||||
PIRSF | |||||||||||||||||||
SMART |
SM00116
|
||||||||||||||||||
TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | P51800 | ||||||||||||||||||
PhosphoSite | PhosphoSite-P51800 | ||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 1187 | ||||||||||||||||||
UniGene | Hs.736811 | ||||||||||||||||||
RefSeq | NP_004061 | ||||||||||||||||||
HUGO | HGNC:2026 | ||||||||||||||||||
OMIM | 602024 | ||||||||||||||||||
CCDS | CCDS167 | ||||||||||||||||||
HPRD | 03608 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AK225550 AK298285 AL355994 BC048282 BC053869 U93878 Z30643 | ||||||||||||||||||
GenPept | AAB65148 AAH48282 AAH53869 BAG60545 CAA83120 CAI16137 CAI16138 | ||||||||||||||||||