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Protein

Chloride channel protein ClC-Kb

Gene

CLCNKB

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.1 Publication

Miscellaneous

Compared with CLCNKA/BSND, CLCNKB/BSND is more sensitive to pH and less responsive to Ca2+.

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 bindingi259CalciumBy similarity1
Metal bindingi261CalciumBy similarity1
Metal bindingi278CalciumBy similarity1
Metal bindingi281CalciumBy similarity1

<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

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-Kb
Short name:
Chloride channel Kb
Alternative name(s):
ClC-K2
<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:CLCNKB
<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:ENSG00000184908.17

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2027 CLCNKB

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
602023 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P51801

<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 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 domaini1 – 50CytoplasmicSequence analysisAdd BLAST50
<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>Transmembranei51 – 71HelicalSequence analysisAdd BLAST21
Transmembranei94 – 114HelicalSequence analysisAdd BLAST21
Transmembranei161 – 181HelicalSequence analysisAdd BLAST21
Transmembranei202 – 222HelicalSequence analysisAdd BLAST21
Transmembranei236 – 256HelicalSequence analysisAdd BLAST21
Transmembranei282 – 302HelicalSequence analysisAdd BLAST21
Transmembranei325 – 345HelicalSequence analysisAdd BLAST21
Transmembranei396 – 416HelicalSequence analysisAdd BLAST21
Transmembranei417 – 437HelicalSequence analysisAdd BLAST21
Transmembranei452 – 472HelicalSequence analysisAdd BLAST21
Transmembranei486 – 506HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell membrane, 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 3 (BARTS3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:607364
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_001624124P → L in BARTS3. 1 PublicationCorresponds to variant dbSNP:rs121909131EnsemblClinVar.1
Natural variantiVAR_001625204A → T in BARTS3. 1 PublicationCorresponds to variant dbSNP:rs121909132EnsemblClinVar.1
Natural variantiVAR_001626349A → D in BARTS3. 1 PublicationCorresponds to variant dbSNP:rs121909134EnsemblClinVar.1
Natural variantiVAR_001627432Y → H in BARTS3. 1 PublicationCorresponds to variant dbSNP:rs121909135EnsemblClinVar.1
Natural variantiVAR_001628438R → C in BARTS3. 1 PublicationCorresponds to variant dbSNP:rs121909133EnsemblClinVar.1
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

Keywords - Diseasei

Bartter syndrome, Deafness, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
1188

MalaCards human disease database

More...
MalaCardsi
CLCNKB
MIMi607364 phenotype
613090 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000184908

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

More...
Orphaneti
93605 Classic Bartter syndrome
358 Gitelman syndrome
89938 Infantile Bartter syndrome with sensorineural deafness

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26554

Chemistry databases

IUPHAR/BPS Guide to PHARMACOLOGY

More...
GuidetoPHARMACOLOGYi
701

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CLCNKB

Domain mapping of disease mutations (DMDM)

More...
DMDMi
288558843

<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_00000944591 – 687Chloride channel protein ClC-KbAdd BLAST687

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi679N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

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

More...
PaxDbi
P51801

PeptideAtlas

More...
PeptideAtlasi
P51801

PRoteomics IDEntifications database

More...
PRIDEi
P51801

ProteomicsDB human proteome resource

More...
ProteomicsDBi
56400

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P51801

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

More...
PhosphoSitePlusi
P51801

<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.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000184908 Expressed in 84 organ(s), highest expression level in adult mammalian kidney

CleanEx database of gene expression profiles

More...
CleanExi
HS_CLCNKB

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P51801 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P51801 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

Interacts with BSND. Forms heteromers with BSND in the thick ascending limb of Henle and more distal segments (By similarity).By similarity

Protein-protein interaction databases

Protein interaction database and analysis system

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IntActi
P51801, 1 interactor

Molecular INTeraction database

More...
MINTi
P51801

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000364831

<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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P51801

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

More...
SMRi
P51801

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<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

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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

More...
InParanoidi
P51801

KEGG Orthology (KO)

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KOi
K05018

Identification of Orthologs from Complete Genome Data

More...
OMAi
LAFEMTG

Database of Orthologous Groups

More...
OrthoDBi
EOG091G01RJ

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P51801

TreeFam database of animal gene trees

More...
TreeFami
TF300522

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.3080.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
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, 2 hits

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 (2+)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 2 <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

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P51801-1) [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
MEEFVGLREG SSGNPVTLQE LWGPCPRIRR GIRGGLEWLK QKLFRLGEDW
60 70 80 90 100
YFLMTLGVLM ALVSCAMDLA VESVVRAHQW LYREIGDSHL LRYLSWTVYP
110 120 130 140 150
VALVSFSSGF SQSITPSSGG SGIPEVKTML AGVVLEDYLD IKNFGAKVVG
160 170 180 190 200
LSCTLACGST LFLGKVGPFV HLSVMMAAYL GRVRTTTIGE PENKSKQNEM
210 220 230 240 250
LVAAAAVGVA TVFAAPFSGV LFSIEVMSSH FSVWDYWRGF FAATCGAFMF
260 270 280 290 300
RLLAVFNSEQ ETITSLYKTS FRVDVPFDLP EIFFFVALGG LCGILGSAYL
310 320 330 340 350
FCQRIFFGFI RNNRFSSKLL ATSKPVYSAL ATLVLASITY PPSAGRFLAS
360 370 380 390 400
RLSMKQHLDS LFDNHSWALM TQNSSPPWPE ELDPQHLWWE WYHPRFTIFG
410 420 430 440 450
TLAFFLVMKF WMLILATTIP MPAGYFMPIF VYGAAIGRLF GETLSFIFPE
460 470 480 490 500
GIVAGGITNP IMPGGYALAG AAAFSGAVTH TISTALLAFE VTGQIVHALP
510 520 530 540 550
VLMAVLAANA IAQSCQPSFY DGTVIVKKLP YLPRILGRNI GSHRVRVEHF
560 570 580 590 600
MNHSITTLAK DMPLEEVVKV VTSTDVAKYP LVESTESQIL VGIVRRAQLV
610 620 630 640 650
QALKAEPPSW APGHQQCLQD ILAAGCPTEP VTLKLSPETS LHEAHNLFEL
660 670 680
LNLHSLFVTS RGRAVGCVSW VEMKKAISNL TNPPAPK
Length:687
Mass (Da):75,446
Last modified:February 9, 2010 - v3
<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:i4D28BC19DDD5D412
GO
Isoform 2 (identifier: P51801-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-49: MEEFVGLREG...KQKLFRLGED → MPCPPLLSVP...RAHLRSVSPP
     50-218: Missing.
     616-616: Missing.

Note: No experimental confirmation available.
Show »
Length:517
Mass (Da):56,998
Checksum:iC2F9D66B22BBD4B1
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087X136A0A087X136_HUMAN
Chloride channel protein ClC-Kb
CLCNKB
463Annotation score:

Annotation score:1 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>
Q5T5Q6Q5T5Q6_HUMAN
Chloride channel protein ClC-Kb
CLCNKB
146Annotation score:

Annotation score:1 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 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 conflicti609S → P in BAG53595 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0337704F → L. Corresponds to variant dbSNP:rs34851419Ensembl.1
Natural variantiVAR_04679727R → L2 PublicationsCorresponds to variant dbSNP:rs2015352EnsemblClinVar.1
Natural variantiVAR_01446688S → R. Corresponds to variant dbSNP:rs5256EnsemblClinVar.1
Natural variantiVAR_033771104V → I. Corresponds to variant dbSNP:rs35530360Ensembl.1
Natural variantiVAR_001624124P → L in BARTS3. 1 PublicationCorresponds to variant dbSNP:rs121909131EnsemblClinVar.1
Natural variantiVAR_014467143N → H. Corresponds to variant dbSNP:rs5259Ensembl.1
Natural variantiVAR_001625204A → T in BARTS3. 1 PublicationCorresponds to variant dbSNP:rs121909132EnsemblClinVar.1
Natural variantiVAR_033772214A → G2 PublicationsCorresponds to variant dbSNP:rs1889789EnsemblClinVar.1
Natural variantiVAR_069104287A → V3 PublicationsCorresponds to variant dbSNP:rs7367494EnsemblClinVar.1
Natural variantiVAR_014468334V → L. Corresponds to variant dbSNP:rs5251Ensembl.1
Natural variantiVAR_001626349A → D in BARTS3. 1 PublicationCorresponds to variant dbSNP:rs121909134EnsemblClinVar.1
Natural variantiVAR_046799395R → W. Corresponds to variant dbSNP:rs34255952Ensembl.1
Natural variantiVAR_033773419I → V. Corresponds to variant dbSNP:rs6650119EnsemblClinVar.1
Natural variantiVAR_001627432Y → H in BARTS3. 1 PublicationCorresponds to variant dbSNP:rs121909135EnsemblClinVar.1
Natural variantiVAR_001628438R → C in BARTS3. 1 PublicationCorresponds to variant dbSNP:rs121909133EnsemblClinVar.1
Natural variantiVAR_046800481T → S. Corresponds to variant dbSNP:rs12140311EnsemblClinVar.1
Natural variantiVAR_014469562M → T2 PublicationsCorresponds to variant dbSNP:rs5253EnsemblClinVar.1
Natural variantiVAR_024409578K → E2 PublicationsCorresponds to variant dbSNP:rs2275166EnsemblClinVar.1
Natural variantiVAR_046801660S → L. Corresponds to variant dbSNP:rs5255EnsemblClinVar.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_0459651 – 49MEEFV…RLGED → MPCPPLLSVPVRAAGEQDRW VREEVTWGGGPTVTGGWGWR AHLRSVSPP in isoform 2. 1 PublicationAdd BLAST49
Alternative sequenceiVSP_04596650 – 218Missing in isoform 2. 1 PublicationAdd BLAST169
Alternative sequenceiVSP_045967616Missing in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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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
Z30644 mRNA Translation: CAA83121.1
S80315 mRNA Translation: AAB35898.1
AK098217 mRNA Translation: BAG53595.1
AL355994 Genomic DNA No translation available.
U93879 Genomic DNA Translation: AAB65149.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS168.1 [P51801-1]
CCDS57974.1 [P51801-2]

Protein sequence database of the Protein Information Resource

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PIRi
D57713

NCBI Reference Sequences

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RefSeqi
NP_000076.2, NM_000085.4 [P51801-1]
NP_001159417.2, NM_001165945.2 [P51801-2]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.352243

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000375667; ENSP00000364819; ENSG00000184908 [P51801-2]
ENST00000375679; ENSP00000364831; ENSG00000184908 [P51801-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
1188

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:1188

UCSC genome browser

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UCSCi
uc001axx.6 human [P51801-1]

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
Z30644 mRNA Translation: CAA83121.1
S80315 mRNA Translation: AAB35898.1
AK098217 mRNA Translation: BAG53595.1
AL355994 Genomic DNA No translation available.
U93879 Genomic DNA Translation: AAB65149.1
CCDSiCCDS168.1 [P51801-1]
CCDS57974.1 [P51801-2]
PIRiD57713
RefSeqiNP_000076.2, NM_000085.4 [P51801-1]
NP_001159417.2, NM_001165945.2 [P51801-2]
UniGeneiHs.352243

3D structure databases

ProteinModelPortaliP51801
SMRiP51801
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiP51801, 1 interactor
MINTiP51801
STRINGi9606.ENSP00000364831

Chemistry databases

GuidetoPHARMACOLOGYi701

PTM databases

iPTMnetiP51801
PhosphoSitePlusiP51801

Polymorphism and mutation databases

BioMutaiCLCNKB
DMDMi288558843

Proteomic databases

PaxDbiP51801
PeptideAtlasiP51801
PRIDEiP51801
ProteomicsDBi56400

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000375667; ENSP00000364819; ENSG00000184908 [P51801-2]
ENST00000375679; ENSP00000364831; ENSG00000184908 [P51801-1]
GeneIDi1188
KEGGihsa:1188
UCSCiuc001axx.6 human [P51801-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
1188
DisGeNETi1188
EuPathDBiHostDB:ENSG00000184908.17

GeneCards: human genes, protein and diseases

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GeneCardsi
CLCNKB

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0020336
HGNCiHGNC:2027 CLCNKB
HPAiHPA057717
MalaCardsiCLCNKB
MIMi602023 gene
607364 phenotype
613090 phenotype
neXtProtiNX_P51801
OpenTargetsiENSG00000184908
Orphaneti93605 Classic Bartter syndrome
358 Gitelman syndrome
89938 Infantile Bartter syndrome with sensorineural deafness
PharmGKBiPA26554

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0476 Eukaryota
COG0038 LUCA
GeneTreeiENSGT00940000158748
HOGENOMiHOG000231297
HOVERGENiHBG005332
InParanoidiP51801
KOiK05018
OMAiLAFEMTG
OrthoDBiEOG091G01RJ
PhylomeDBiP51801
TreeFamiTF300522

Enzyme and pathway databases

ReactomeiR-HSA-2672351 Stimuli-sensing channels

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
CLCNKB human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
CLCNKB

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

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GenomeRNAii
1188

Protein Ontology

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PROi
PR:P51801

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000184908 Expressed in 84 organ(s), highest expression level in adult mammalian kidney
CleanExiHS_CLCNKB
ExpressionAtlasiP51801 baseline and differential
GenevisibleiP51801 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, 2 hits
SUPFAMiSSF81340 SSF81340, 1 hit
PROSITEiView protein in PROSITE
PS51371 CBS, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<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 nameiCLCKB_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: P51801
Secondary accession number(s): B3KUY3, Q5T5Q7, Q5T5Q8
<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: February 9, 2010
Last modified: December 5, 2018
This is version 172 of the entry and version 3 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

Complete proteome, Reference proteome

Documents

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