CLCNKA
Chloride channel protein ClC-Ka
Also known as: CLCKA_HUMAN, hClC-Ka
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P51800
- Gene
- CLCNKA
- Ensembl
- ENSG00000186510
- Chromosome
- 1
- Canonical length
- 687 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted membrane proteins
- Quaternary structure
- Homodimer
OverviewNCBI Gene
This gene is a member of the CLC family of voltage-gated chloride channels. The encoded protein is predicted to have 12 transmembrane domains, and requires a beta subunit called barttin to form a functional channel. It is thought to function in salt reabsorption in the kidney and potassium recycling in the inner ear. The gene is highly similar to CLCNKB, which is located 10 kb downstream from this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
687 residues, UniProt reviewed canonical sequence.
>P51800|CLCNKA
1 MEELVGLREG FSGDPVTLQE LWGPCPHIRR AIQGGLEWLK QKVFRLGEDW YFLMTLGVLM
61 ALVSYAMNFA IGCVVRAHQW LYREIGDSHL LRYLSWTVYP VALVSFSSGF SQSITPSSGG
121 SGIPELKTML AGVILEDYLD IKNFGAKVVG LSCTLATGST LFLGKVGPFV HLSVMIAAYL
181 GRVRTTTIGE PENKSKQNEM LVAAAAVGVA TVFAAPFSGV LFSIEVMSSH FSVRDYWRGF
241 FAATCGAFIF RLLAVFNSEQ ETITSLYKTS FRVDVPFDLP EIFFFVALGG ICGVLSCAYL
301 FCQRTFLSFI KTNRYSSKLL ATSKPVYSAL ATLLLASITY PPGVGHFLAS RLSMKQHLDS
361 LFDNHSWALM TQNSSPPWPE ELDPQHLWWE WYHPRFTIFG TLAFFLVMKF WMLILATTIP
421 MPAGYFMPIF ILGAAIGRLL GEALAVAFPE GIVTGGVTNP IMPGGYALAG AAAFSGAVTH
481 TISTALLAFE LTGQIVHALP VLMAVLAANA IAQSCQPSFY DGTIIVKKLP YLPRILGRNI
541 GSHHVRVEHF MNHSITTLAK DTPLEEVVKV VTSTDVTEYP LVESTESQIL VGIVQRAQLV
601 QALQAEPPSR APGHQQCLQD ILARGCPTEP VTLTLFSETT LHQAQNLFKL LNLQSLFVTS
661 RGRAVGCVSW VEMKKAISNL TNPPAPKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CLCNKA can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 9
- Mean surface accessibility (rSASA)
- 0.26
- Highest tissue expression
- 332 nTPM
Expression across tissuesHPA
Tissue
- kidney: 332 nTPM
- parathyroid gland: 45 nTPM
- thyroid gland: 21 nTPM
- pituitary gland: 18 nTPM
- choroid plexus: 12 nTPM
- cerebellum: 7.6 nTPM
Single-cell type
- late spermatids: 395 nCPM
- loop of henle epithelial cells: 188 nCPM
- distal convoluted tubule cells: 161 nCPM
- renal collecting duct intercalated cells: 124 nCPM
- renal connecting tubule cells: 100 nCPM
- gonadotrophs: 86 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- choroid plexus: 9.3 nTPM
- cerebellum: 3.9 nTPM
- hippocampal formation: 0.9 nTPM
- pons: 0.8 nTPM
- cerebral cortex: 0.3 nTPM
- medulla oblongata: 0.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CLCNKA.
Disease | AllUniProt
Conditions CLCNKA is implicated in, by any mechanism.
- Bartter syndrome 4B, neonatal, with sensorineural deafness (BARTS4B) MIM:613090
Disease | GeneticClinVar
5 pathogenic / likely-pathogenic of 273 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.12
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.33
- DepMap mean gene effect
- 0.15
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- chloride channel activity
- identical protein binding
- metal ion binding
- voltage-gated chloride channel activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CLCNKA in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CLCNKA as an antibody target. Whether an autoantibody or antibody against CLCNKA could matter depends on whether native CLCNKA is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CLCNKA is annotated at the cell surface, where native CLCNKA is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label CLCNKA as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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