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Protein

Chloride channel protein ClC-Ka

Gene

CLCNKA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.

<p>This subsection of the ‘Function’ section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Activated by extracellular calcium and inhibited by extracellular protons.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi259Calcium1 Publication1
Metal bindingi261Calcium1 Publication1
Metal bindingi278Calcium1 Publication1
Metal bindingi281Calcium1 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • identical protein binding Source: IntAct
  • metal ion binding Source: UniProtKB-KW
  • voltage-gated chloride channel activity Source: Reactome

GO - Biological processi

  • excretion Source: ProtInc
  • ion transmembrane transport Source: Reactome
  • regulation of ion transmembrane transport Source: UniProtKB-KW

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionChloride channel, Ion channel, Voltage-gated channel
Biological processIon transport, Transport
LigandCalcium, Chloride, Metal-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2672351 Stimuli-sensing channels

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Chloride channel protein ClC-Ka
Short name:
Chloride channel Ka
Alternative name(s):
ClC-K1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CLCNKA
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000186510.11

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2026 CLCNKA

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
602024 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P51800

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei52 – 72HelicalSequence analysisAdd BLAST21
Transmembranei161 – 181HelicalSequence analysisAdd BLAST21
Transmembranei202 – 222HelicalSequence analysisAdd BLAST21
Transmembranei236 – 256HelicalSequence analysisAdd BLAST21
Transmembranei282 – 302HelicalSequence analysisAdd BLAST21
Transmembranei329 – 349HelicalSequence analysisAdd BLAST21
Transmembranei396 – 416HelicalSequence analysisAdd BLAST21
Transmembranei417 – 437HelicalSequence analysisAdd BLAST21
Transmembranei452 – 472HelicalSequence analysisAdd BLAST21
Transmembranei486 – 506HelicalSequence analysisAdd BLAST21
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini507 – 687CytoplasmicSequence analysisAdd BLAST181

Keywords - Cellular componenti

Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Bartter syndrome 4B, neonatal, with sensorineural deafness (BARTS4B)2 Publications
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).1 Publication
Disease descriptionA 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.
See also OMIM:613090
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06307480W → C in BARTS4B; a patient also carrying a mutation in CLCNKB. 1 PublicationCorresponds to variant dbSNP:rs121909137EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi259E → N: Calcium insensitive. 1 Publication1
Mutagenesisi261E → Q: Calcium insensitive. 1 Publication1
Mutagenesisi278D → N: Calcium insensitive. 1 Publication1
Mutagenesisi281E → D: Calcium insensitive. 1 Publication1

Keywords - Diseasei

Bartter syndrome, Deafness, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
1187

MalaCards human disease database

More...
MalaCardsi
CLCNKA
MIMi613090 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000186510

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
89938 Infantile Bartter syndrome with sensorineural deafness

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26553

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB04552 Niflumic Acid

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
700

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CLCNKA

Domain mapping of disease mutations (DMDM)

More...
DMDMi
1705857

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000944551 – 687Chloride channel protein ClC-KaAdd BLAST687

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P51800

PeptideAtlas

More...
PeptideAtlasi
P51800

PRoteomics IDEntifications database

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PRIDEi
P51800

ProteomicsDB human proteome resource

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ProteomicsDBi
56399

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P51800

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P51800

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed predominantly in the kidney. All nephron segments expressing BSND also express CLCNK proteins.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000186510 Expressed in 80 organ(s), highest expression level in cortex of kidney

CleanEx database of gene expression profiles

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CleanExi
HS_CLCNKA

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P51800 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA057717

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer (PubMed:17562318). Interacts with BSND. Forms heteromers with BSND in the thin ascending limb of Henle (By similarity).By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
itself2EBI-12538872,EBI-12538872

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
107601, 1 interactor

Database of interacting proteins

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DIPi
DIP-29432N

Protein interaction database and analysis system

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IntActi
P51800, 20 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000332771

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1687
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P51800

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P51800

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P51800

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini551 – 609CBS 1PROSITE-ProRule annotationAdd BLAST59
Domaini626 – 684CBS 2PROSITE-ProRule annotationAdd BLAST59

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

CBS domain, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0476 Eukaryota
COG0038 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158748

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231297

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG005332

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P51800

KEGG Orthology (KO)

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KOi
K05017

Identification of Orthologs from Complete Genome Data

More...
OMAi
LPQWPDL

Database of Orthologous Groups

More...
OrthoDBi
EOG091G01RJ

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P51800

TreeFam database of animal gene trees

More...
TreeFami
TF300522

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.3080.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000644 CBS_dom
IPR014743 Cl-channel_core
IPR001807 Cl-channel_volt-gated
IPR002250 Cl_channel-K

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00571 CBS, 1 hit
PF00654 Voltage_CLC, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00762 CLCHANNEL
PR01119 CLCHANNELKDY

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00116 CBS, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF81340 SSF81340, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51371 CBS, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: P51800-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MEELVGLREG FSGDPVTLQE LWGPCPHIRR AIQGGLEWLK QKVFRLGEDW
60 70 80 90 100
YFLMTLGVLM ALVSYAMNFA IGCVVRAHQW LYREIGDSHL LRYLSWTVYP
110 120 130 140 150
VALVSFSSGF SQSITPSSGG SGIPELKTML AGVILEDYLD IKNFGAKVVG
160 170 180 190 200
LSCTLATGST LFLGKVGPFV HLSVMIAAYL GRVRTTTIGE PENKSKQNEM
210 220 230 240 250
LVAAAAVGVA TVFAAPFSGV LFSIEVMSSH FSVRDYWRGF FAATCGAFIF
260 270 280 290 300
RLLAVFNSEQ ETITSLYKTS FRVDVPFDLP EIFFFVALGG ICGVLSCAYL
310 320 330 340 350
FCQRTFLSFI KTNRYSSKLL ATSKPVYSAL ATLLLASITY PPGVGHFLAS
360 370 380 390 400
RLSMKQHLDS LFDNHSWALM TQNSSPPWPE ELDPQHLWWE WYHPRFTIFG
410 420 430 440 450
TLAFFLVMKF WMLILATTIP MPAGYFMPIF ILGAAIGRLL GEALAVAFPE
460 470 480 490 500
GIVTGGVTNP IMPGGYALAG AAAFSGAVTH TISTALLAFE LTGQIVHALP
510 520 530 540 550
VLMAVLAANA IAQSCQPSFY DGTIIVKKLP YLPRILGRNI GSHHVRVEHF
560 570 580 590 600
MNHSITTLAK DTPLEEVVKV VTSTDVTEYP LVESTESQIL VGIVQRAQLV
610 620 630 640 650
QALQAEPPSR APGHQQCLQD ILARGCPTEP VTLTLFSETT LHQAQNLFKL
660 670 680
LNLQSLFVTS RGRAVGCVSW VEMKKAISNL TNPPAPK
Length:687
Mass (Da):75,285
Last modified:October 1, 1996 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iE97C6928470A4460
GO
Isoform 2 (identifier: P51800-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     77-119: Missing.

Note: No experimental confirmation available.
Show »
Length:644
Mass (Da):70,458
Checksum:i0ADDA2F448320E16
GO
Isoform 3 (identifier: P51800-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     615-615: Missing.

Note: No experimental confirmation available.
Show »
Length:686
Mass (Da):75,157
Checksum:iDF721CCFE6735ED2
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti28I → V in BAG60545 (PubMed:14702039).Curated1
Sequence conflicti451G → D in BAG60545 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0486958R → H. Corresponds to variant dbSNP:rs9442189Ensembl.1
Natural variantiVAR_03376845R → H. Corresponds to variant dbSNP:rs35932996Ensembl.1
Natural variantiVAR_03078467M → I1 PublicationCorresponds to variant dbSNP:rs17855678Ensembl.1
Natural variantiVAR_06307480W → C in BARTS4B; a patient also carrying a mutation in CLCNKB. 1 PublicationCorresponds to variant dbSNP:rs121909137EnsemblClinVar.1
Natural variantiVAR_01978783R → G1 PublicationCorresponds to variant dbSNP:rs10927887EnsemblClinVar.1
Natural variantiVAR_019788315Y → F1 PublicationCorresponds to variant dbSNP:rs12126269Ensembl.1
Natural variantiVAR_068971357H → Q1 PublicationCorresponds to variant dbSNP:rs79751787Ensembl.1
Natural variantiVAR_014465447A → T2 PublicationsCorresponds to variant dbSNP:rs1805152Ensembl.1
Natural variantiVAR_059209534R → W. Corresponds to variant dbSNP:rs12140223Ensembl.1
Natural variantiVAR_061095683P → L. Corresponds to variant dbSNP:rs12746751Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_04470077 – 119Missing in isoform 2. 1 PublicationAdd BLAST43
Alternative sequenceiVSP_045795615Missing in isoform 3. 2 Publications1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
Z30643 mRNA Translation: CAA83120.1
AK298285 mRNA Translation: BAG60545.1
AK225550 mRNA No translation available.
AL355994 Genomic DNA No translation available.
BC048282 mRNA Translation: AAH48282.1
BC053869 mRNA Translation: AAH53869.1
U93878 Genomic DNA Translation: AAB65148.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS167.1 [P51800-1]
CCDS41269.1 [P51800-3]
CCDS57973.1 [P51800-2]

Protein sequence database of the Protein Information Resource

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PIRi
C57713

NCBI Reference Sequences

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RefSeqi
NP_001036169.1, NM_001042704.1 [P51800-3]
NP_001244068.1, NM_001257139.1 [P51800-2]
NP_004061.3, NM_004070.3 [P51800-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.591533

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000331433; ENSP00000332771; ENSG00000186510 [P51800-1]
ENST00000375692; ENSP00000364844; ENSG00000186510 [P51800-3]
ENST00000439316; ENSP00000414445; ENSG00000186510 [P51800-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
1187

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:1187

UCSC genome browser

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UCSCi
uc001axu.4 human [P51800-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z30643 mRNA Translation: CAA83120.1
AK298285 mRNA Translation: BAG60545.1
AK225550 mRNA No translation available.
AL355994 Genomic DNA No translation available.
BC048282 mRNA Translation: AAH48282.1
BC053869 mRNA Translation: AAH53869.1
U93878 Genomic DNA Translation: AAB65148.1
CCDSiCCDS167.1 [P51800-1]
CCDS41269.1 [P51800-3]
CCDS57973.1 [P51800-2]
PIRiC57713
RefSeqiNP_001036169.1, NM_001042704.1 [P51800-3]
NP_001244068.1, NM_001257139.1 [P51800-2]
NP_004061.3, NM_004070.3 [P51800-1]
UniGeneiHs.591533

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2PFIX-ray1.60A/B533-687[»]
ProteinModelPortaliP51800
SMRiP51800
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107601, 1 interactor
DIPiDIP-29432N
IntActiP51800, 20 interactors
STRINGi9606.ENSP00000332771

Chemistry databases

DrugBankiDB04552 Niflumic Acid
GuidetoPHARMACOLOGYi700

PTM databases

iPTMnetiP51800
PhosphoSitePlusiP51800

Polymorphism and mutation databases

BioMutaiCLCNKA
DMDMi1705857

Proteomic databases

PaxDbiP51800
PeptideAtlasiP51800
PRIDEiP51800
ProteomicsDBi56399

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000331433; ENSP00000332771; ENSG00000186510 [P51800-1]
ENST00000375692; ENSP00000364844; ENSG00000186510 [P51800-3]
ENST00000439316; ENSP00000414445; ENSG00000186510 [P51800-2]
GeneIDi1187
KEGGihsa:1187
UCSCiuc001axu.4 human [P51800-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
1187
DisGeNETi1187
EuPathDBiHostDB:ENSG00000186510.11

GeneCards: human genes, protein and diseases

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GeneCardsi
CLCNKA
HGNCiHGNC:2026 CLCNKA
HPAiHPA057717
MalaCardsiCLCNKA
MIMi602024 gene
613090 phenotype
neXtProtiNX_P51800
OpenTargetsiENSG00000186510
Orphaneti89938 Infantile Bartter syndrome with sensorineural deafness
PharmGKBiPA26553

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0476 Eukaryota
COG0038 LUCA
GeneTreeiENSGT00940000158748
HOGENOMiHOG000231297
HOVERGENiHBG005332
InParanoidiP51800
KOiK05017
OMAiLPQWPDL
OrthoDBiEOG091G01RJ
PhylomeDBiP51800
TreeFamiTF300522

Enzyme and pathway databases

ReactomeiR-HSA-2672351 Stimuli-sensing channels

Miscellaneous databases

EvolutionaryTraceiP51800

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
CLCNKA

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
1187

Protein Ontology

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PROi
PR:P51800

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000186510 Expressed in 80 organ(s), highest expression level in cortex of kidney
CleanExiHS_CLCNKA
GenevisibleiP51800 HS

Family and domain databases

Gene3Di1.10.3080.10, 1 hit
InterProiView protein in InterPro
IPR000644 CBS_dom
IPR014743 Cl-channel_core
IPR001807 Cl-channel_volt-gated
IPR002250 Cl_channel-K
PfamiView protein in Pfam
PF00571 CBS, 1 hit
PF00654 Voltage_CLC, 1 hit
PRINTSiPR00762 CLCHANNEL
PR01119 CLCHANNELKDY
SMARTiView protein in SMART
SM00116 CBS, 1 hit
SUPFAMiSSF81340 SSF81340, 1 hit
PROSITEiView protein in PROSITE
PS51371 CBS, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCLCKA_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P51800
Secondary accession number(s): B4DPD3
, E7EPH6, Q5T5P8, Q5T5Q4, Q7Z6D1, Q86VT1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: December 5, 2018
This is version 170 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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