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UniProtKB - P51801 (CLCKB_HUMAN)

Protein

Chloride channel protein ClC-Kb

Gene

CLCNKB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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
Metal bindingi259CalciumBy similarity1
Metal bindingi261CalciumBy similarity1
Metal bindingi278CalciumBy similarity1
Metal bindingi281CalciumBy similarity1

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • excretion Source: ProtInc
  • ion transmembrane transport Source: Reactome
  • regulation of ion transmembrane transport Source: UniProtKB-KW
View the complete GO annotation on QuickGO ...

Keywordsi

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

Enzyme and pathway databases

ReactomeiR-HSA-2672351 Stimuli-sensing channels

Names & Taxonomyi

Protein namesi
Recommended name:
Chloride channel protein ClC-Kb
Short name:
Chloride channel Kb
Alternative name(s):
ClC-K2
Gene namesi
Name:CLCNKB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000184908.17
HGNCiHGNC:2027 CLCNKB
MIMi602023 gene
neXtProtiNX_P51801

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
Topological domaini1 – 50CytoplasmicSequence analysisAdd BLAST50
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

Pathology & Biotechi

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
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

DisGeNETi1188
MalaCardsiCLCNKB
MIMi607364 phenotype
613090 phenotype
OpenTargetsiENSG00000184908
Orphaneti93605 Classic Bartter syndrome
358 Gitelman syndrome
89938 Infantile Bartter syndrome with sensorineural deafness
PharmGKBiPA26554

Chemistry databases

GuidetoPHARMACOLOGYi701

Polymorphism and mutation databases

BioMutaiCLCNKB
DMDMi288558843

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000944591 – 687Chloride channel protein ClC-KbAdd BLAST687

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi679N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiP51801
PeptideAtlasiP51801
PRIDEiP51801
ProteomicsDBi56400

PTM databases

iPTMnetiP51801
PhosphoSitePlusiP51801

Expressioni

Tissue specificityi

Expressed predominantly in the kidney.1 Publication

Gene expression databases

BgeeiENSG00000184908 Expressed in 84 organ(s), highest expression level in adult mammalian kidney
CleanExiHS_CLCNKB
ExpressionAtlasiP51801 baseline and differential
GenevisibleiP51801 HS

Organism-specific databases

HPAiHPA057717

Interactioni

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

IntActiP51801, 1 interactor
MINTiP51801
STRINGi9606.ENSP00000364831

Structurei

3D structure databases

ProteinModelPortaliP51801
SMRiP51801
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini551 – 609CBS 1PROSITE-ProRule annotationAdd BLAST59
Domaini626 – 684CBS 2PROSITE-ProRule annotationAdd BLAST59

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

eggNOGiKOG0476 Eukaryota
COG0038 LUCA
GeneTreeiENSGT00760000119109
HOGENOMiHOG000231297
HOVERGENiHBG005332
InParanoidiP51801
KOiK05018
OMAiLAFEMTG
OrthoDBiEOG091G01RJ
PhylomeDBiP51801
TreeFamiTF300522

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

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 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
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

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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:
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

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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

CTDi1188
DisGeNETi1188
EuPathDBiHostDB:ENSG00000184908.17
GeneCardsiCLCNKB
H-InvDBiHIX0020336
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
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0476 Eukaryota
COG0038 LUCA
GeneTreeiENSGT00760000119109
HOGENOMiHOG000231297
HOVERGENiHBG005332
InParanoidiP51801
KOiK05018
OMAiLAFEMTG
OrthoDBiEOG091G01RJ
PhylomeDBiP51801
TreeFamiTF300522

Enzyme and pathway databases

ReactomeiR-HSA-2672351 Stimuli-sensing channels

Miscellaneous databases

ChiTaRSiCLCNKB human
GeneWikiiCLCNKB
GenomeRNAii1188
PROiPR:P51801
SOURCEiSearch...

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
ProtoNetiSearch...

Entry informationi

Entry nameiCLCKB_HUMAN
AccessioniPrimary (citable) accession number: P51801
Secondary accession number(s): B3KUY3, Q5T5Q7, Q5T5Q8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: February 9, 2010
Last modified: November 7, 2018
This is version 171 of the entry and version 3 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, 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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