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UniProtKB - P51801 (CLCKB_HUMAN)

Entry version 179 (11 Dec 2019)
Sequence version 3 (09 Feb 2010)
Previous versions | rss
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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 <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei121ChlorideBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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
Binding sitei426Chloride; via amide nitrogenBy 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 & Seán O’Donoghue; 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 – 50CytoplasmicBy similarityAdd 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 – 82HelicalBy similarityAdd BLAST32
Transmembranei91 – 111HelicalBy similarityAdd BLAST21
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei116 – 127HelicalBy similarityAdd BLAST12
Transmembranei141 – 160HelicalBy similarityAdd BLAST20
Transmembranei161 – 180HelicalBy similarityAdd BLAST20
Intramembranei203 – 224HelicalBy similarityAdd BLAST22
Transmembranei236 – 255HelicalBy similarityAdd BLAST20
Transmembranei282 – 310HelicalBy similarityAdd BLAST29
Transmembranei325 – 342HelicalBy similarityAdd BLAST18
Intramembranei349 – 360HelicalBy similarityAdd BLAST12
Transmembranei400 – 420HelicalBy similarityAdd BLAST21
Transmembranei421 – 440HelicalBy similarityAdd BLAST20
Intramembranei464 – 496HelicalBy similarityAdd BLAST33
Transmembranei500 – 520HelicalBy similarityAdd BLAST21
Topological domaini521 – 687CytoplasmicBy similarityAdd BLAST167

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.
Related information in OMIM
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.
Related information in OMIM

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

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P51801 Tchem

Chemistry databases

DrugCentral

More...DrugCentrali		P51801

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>Glycosylationi193N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P51801

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P51801

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: a multi-organism proteome resource

More...ProteomicsDBi		56400 [P51801-1]
64546

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

ExpressionAtlas, Differential and Baseline Expression

More...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

More...IntActi		P51801, 1 interactor

Molecular INTeraction database

More...MINTi		P51801

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000364831

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P51801 protein

<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

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

More...SMRi		P51801

Database of comparative protein structure models

More...ModBasei		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

Belongs to the chloride channel (TC 2.A.49) family. CLCNKB subfamily. [View classification]Curated

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

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P51801

KEGG Orthology (KO)

More...KOi		K05018

Identification of Orthologs from Complete Genome Data

More...OMAi		PDTTLHQ

Database of Orthologous Groups

More...OrthoDBi		271925at2759

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>. The information is filed in different subsections. The current subsections and their content are listed below:<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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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.

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:rs6650119Ensembl.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:rs12140311Ensembl.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.<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

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

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

Protein sequence database of the Protein Information Resource

More...PIRi		D57713

NCBI Reference Sequences

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

Genome annotation databases

Ensembl eukaryotic genome annotation project

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

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1188

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1188

UCSC genome browser

More...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]

3D structure databases

SMRiP51801
ModBaseiSearch...

Protein-protein interaction databases

IntActiP51801, 1 interactor
MINTiP51801
STRINGi9606.ENSP00000364831

Chemistry databases

DrugCentraliP51801
GuidetoPHARMACOLOGYi701

PTM databases

iPTMnetiP51801
PhosphoSitePlusiP51801

Polymorphism and mutation databases

BioMutaiCLCNKB
DMDMi288558843

Proteomic databases

jPOSTiP51801
MassIVEiP51801
PaxDbiP51801
PeptideAtlasiP51801
PRIDEiP51801
ProteomicsDBi56400 [P51801-1]
64546

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

More...CTDi		1188
DisGeNETi1188
EuPathDBiHostDB:ENSG00000184908.17

GeneCards: human genes, protein and diseases

More...GeneCardsi		CLCNKB
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

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0476 Eukaryota
COG0038 LUCA
GeneTreeiENSGT00940000158748
HOGENOMiHOG000231297
InParanoidiP51801
KOiK05018
OMAiPDTTLHQ
OrthoDBi271925at2759
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

More...ChiTaRSi		CLCNKB human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		CLCNKB

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

More...GenomeRNAii		1188
PharosiP51801 Tchem

Protein Ontology

More...PROi		PR:P51801
RNActiP51801 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000184908 Expressed in 84 organ(s), highest expression level in adult mammalian kidney
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

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 11, 2019
This is version 179 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

Reference proteome

Documents

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