CLCNKA
entrez
1187
canonical
uniprot
P51800
canonical
ensembl
ENSG00000186510
resolver
ensp
ENSP00000332771
resolver
ensp
ENSP00000414445
resolver
ensp
ENSP00000531541
resolver
genesymbol
CLCNKA
resolver
hgnc
HGNC:2026
resolver
uniprot
B4DPD3
resolver
uniprot
E7EPH6
resolver
uniprot
Q5T5P8
resolver
uniprot
Q5T5Q4
resolver
uniprot
Q7Z6D1
resolver
uniprot
Q86VT1
resolver
uniprot_entry
CLCKA_HUMAN
resolver
uniprot_sec
B4DPD3
resolver
uniprot_sec
E7EPH6
resolver
uniprot_sec
Q5T5P8
resolver
uniprot_sec
Q5T5Q4
resolver
uniprot_sec
Q7Z6D1
resolver
uniprot_sec
Q86VT1
resolver
activity_regulation
ACTIVITY REGULATION: Activated by extracellular Ca(2+) and inhibited by extracellular acidic pH. {ECO:0000269|PubMed:11734858, ECO:0000305|PubMed:23148261}.
uniprot
proteins
amino_acid_sequence
MEELVGLREGFSGDPVTLQELWGPCPHIRRAIQGGLEWLKQKVFRLGEDWYFLMTLGVLMALVSYAMNFAIGCVVRAHQWLYREIGDSHLLRYLSWTVYPVALVSFSSGFSQSITPSSGGSGIPELKTMLAGVILEDYLDIKNFGAKVVGLSCTLATGSTLFLGKVGPFVHLSVMIAAYLGRVRTTTIGEPENKSKQNEMLVAAAAVGVATVFAAPFSGVLFSIEVMSSHFSVRDYWRGFFAATCGAFIFRLLAVFNSEQETITSLYKTSFRVDVPFDLPEIFFFVALGGICGVLSCAYLFCQRTFLSFIKTNRYSSKLLATSKPVYSALATLLLASITYPPGVGHFLASRLSMKQHLDSLFDNHSWALMTQNSSPPWPEELDPQHLWWEWYHPRFTIFGTLAFFLVMKFWMLILATTIPMPAGYFMPIFILGAAIGRLLGEALAVAFPEGIVTGGVTNPIMPGGYALAGAAAFSGAVTHTISTALLAFELTGQIVHALPVLMAVLAANAIAQSCQPSFYDGTIIVKKLPYLPRILGRNIGSHHVRVEHFMNHSITTLAKDTPLEEVVKVVTSTDVTEYPLVESTESQILVGIVQRAQLVQALQAEPPSRAPGHQQCLQDILARGCPTEPVTLTLFSETTLHQAQNLFKLLNLQSLFVTSRGRAVGCVSWVEMKKAISNLTNPPAPK
uniprot
proteins
disease_involvement
DISEASE: Bartter syndrome 4B, neonatal, with sensorineural deafness (BARTS4B) [MIM:613090]: A digenic form of Bartter syndrome, an autosomal 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. BARTS4B is associated with sensorineural deafness. {ECO:0000269|PubMed:15044642, ECO:0000269|PubMed:18310267}. Note=The disease is caused by variants 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}.
uniprot
proteins
function
FUNCTION: Anion-selective channel permeable to small monovalent anions with ion selectivity for chloride > bromide > nitrate > iodide (PubMed:11734858, PubMed:12111250). Forms a homodimeric channel where each subunit has its own ion conduction pathway. May conduct double-barreled currents controlled by two types of gates, two fast gates that control each subunit independently and a slow common gate that opens and shuts off both subunits simultaneously (PubMed:11734858, PubMed:12111250, PubMed:18310267, PubMed:18776122, PubMed:19646679, PubMed:20538786). Assembles with the regulatory subunit BSND/Barttin for sorting at the basolateral plasma membrane domain and functional switch to the ion conducting state. CLCNKA:BSND channels display mostly a linear current-voltage relationship with fast gating at negative potentials (PubMed:11734858, PubMed:12111250, PubMed:18310267, PubMed:18776122, PubMed:20538786). Mediates transepithelial chloride transport from the lumen to interstitial compartment along the thin ascending limb of Henle's loop, contributing to generation of hypertonic medullary interstitium as a countercurrent system to achieve urine concentration (By similarity) (PubMed:15044642). Conducts chloride currents in the stria vascularis of the inner ear to establish the endocochlear potential necessary for normal hearing (PubMed:15044642, PubMed:18310267, PubMed:19646679). {ECO:0000250|UniProtKB:Q9WUB7, ECO:0000269|PubMed:11734858, ECO:0000269|PubMed:12111250, ECO:0000269|PubMed:15044642, ECO:0000269|PubMed:18310267, ECO:0000269|PubMed:18776122, ECO:0000269|PubMed:19646679, ECO:0000269|PubMed:20538786}.
uniprot
proteins
mass_dalton
75285
uniprot
proteins
mutagenesis
MUTAGEN 259; /note="E->N: Ca(2+)-insensitive."; /evidence="ECO:0000269|PubMed:23148261"; MUTAGEN 261; /note="E->Q: Ca(2+)-insensitive."; /evidence="ECO:0000269|PubMed:23148261"; MUTAGEN 278; /note="D->N: Ca(2+)-insensitive."; /evidence="ECO:0000269|PubMed:23148261"; MUTAGEN 281; /note="E->D: Ca(2+)-insensitive."; /evidence="ECO:0000269|PubMed:23148261
uniprot
proteins
protein_family
CLCNKA subfamily
uniprot
proteins
protein_family
Chloride channel (TC 2.A.49) family
uniprot
proteins
pubmed
11734858
uniprot
proteins
pubmed
12111250
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15044642
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17562318
uniprot
proteins
pubmed
18310267
uniprot
proteins
pubmed
18776122
uniprot
proteins
pubmed
19646679
uniprot
proteins
pubmed
20538786
uniprot
proteins
pubmed
23148261
uniprot
proteins
pubmed
8041726
uniprot
proteins
sequence_length
687
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Basolateral cell membrane {ECO:0000250|UniProtKB:Q9WUB7}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 52..72; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 161..181; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 202..222; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 236..256; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 282..302; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 329..349; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 396..416; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 417..437; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 452..472; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 486..506; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins