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P51800 Proteins CBS domain Repeats
Uniprot ID:P51800
Protein name: Chloride channel protein ClC-Ka
Gene : CLCNKA
Protein Family:"Chloride channel (TC 2.A.49) family, CLCNKA subfamily"
Squence Length : 687
Sequnce
>P51800 688 MEELVGLREGFSGDPVTLQELWGPCPHIRRAIQGGLEWLKQKVFRLGEDWYFLMTLGVLMALVSYAMNFAIGCVVRAHQWLYREIGDSHLLRYLSWTVYPVALVSFSSGFSQSITPSSGGSGIPELKTMLAGVILEDYLDIKNFGAKVVGLSCTLATGSTLFLGKVGPFVHLSVMIAAYLGRVRTTTIGEPENKSKQNEMLVAAAAVGVATVFAAPFSGVLFSIEVMSSHFSVRDYWRGFFAATCGAFIFRLLAVFNSEQETITSLYKTSFRVDVPFDLPEIFFFVALGGICGVLSCAYLFCQRTFLSFIKTNRYSSKLLATSKPVYSALATLLLASITYPPGVGHFLASRLSMKQHLDSLFDNHSWALMTQNSSPPWPEELDPQHLWWEWYHPRFTIFGTLAFFLVMKFWMLILATTIPMPAGYFMPIFILGAAIGRLLGEALAVAFPEGIVTGGVTNPIMPGGYALAGAAAFSGAVTHTISTALLAFELTGQIVHALPVLMAVLAANAIAQSCQPSFYDGTIIVKKLPYLPRILGRNIGSHHVRVEHFMNHSITTLAKDTPLEEVVKVVTSTDVTEYPLVESTESQILVGIVQRAQLVQALQAEPPSRAPGHQQCLQDILARGCPTEPVTLTLFSETTLHQAQNLFKLLNLQSLFVTSRGRAVGCVSWVEMKKAISNLTNPPAPK
Domains
DOMAIN 551 609 CBS 1 DOMAIN 626 684 CBS 2
CBS sequence regions
551 - 609 HSITTLAKDTPLEEVVKVVTSTDVTEYPLVESTESQILVGIVQRAQLVQALQAEPPSRA 626 - 684 TEPVTLTLFSETTLHQAQNLFKLLNLQSLFVTSRGRAVGCVSWVEMKKAISNLTNPPAP
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"
Mutation
259 259 E->N: Calcium insensitive 261 261 E->Q: Calcium insensitive 278 278 D->N: Calcium insensitive 281 281 E->D: Calcium insensitive
Disease
"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 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)"