UniProtKB - Q8WZ55 (BSND_HUMAN)
Protein
Barttin
Gene
BSND
Organism
Homo sapiens (Human)
Status
Functioni
Functions as a beta-subunit for CLCNKA and CLCNKB chloride channels. In the kidney CLCNK/BSND heteromers mediate chloride reabsorption by facilitating its basolateral efflux. In the stria, CLCNK/BSND channels drive potassium secretion by recycling chloride for the basolateral SLC12A2 cotransporter.2 Publications
GO - Molecular functioni
- chloride channel activity Source: Ensembl
- chloride channel regulator activity Source: GO_Central
GO - Biological processi
- chloride transport Source: GO_Central
- ion transmembrane transport Source: Reactome
Enzyme and pathway databases
PathwayCommonsi | Q8WZ55 |
Reactomei | R-HSA-2672351, Stimuli-sensing channels |
Protein family/group databases
TCDBi | 8.A.53.1.1, the clc-k accessory subunit, barttin, (barttin) family |
Names & Taxonomyi
Protein namesi | Recommended name: Barttin |
Gene namesi | Name:BSND Synonyms:BART |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:16512, BSND |
MIMi | 606412, gene |
neXtProti | NX_Q8WZ55 |
VEuPathDBi | HostDB:ENSG00000162399.6 |
Subcellular locationi
Plasma membrane
- Cell membrane By similarity; Multi-pass membrane protein By similarity
Cytoplasm and Cytosol
- Cytoplasm By similarity
Note: A significant amount also observed intracellularly. Staining in membranes of the renal tubule and of potassium-secreting epithelia of the inner ear is basolateral (By similarity).By similarity
Plasma Membrane
- basolateral plasma membrane Source: UniProtKB
- integral component of plasma membrane Source: UniProtKB
- plasma membrane Source: Reactome
Other locations
- cytoplasm Source: UniProtKB-SubCell
- protein-containing complex Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 5 | CytoplasmicSequence analysis | 5 | |
Transmembranei | 6 – 26 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 27 – 32 | ExtracellularSequence analysis | 6 | |
Transmembranei | 33 – 53 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 54 – 320 | CytoplasmicSequence analysisAdd BLAST | 267 |
Keywords - Cellular componenti
Cell membrane, Cytoplasm, MembranePathology & Biotechi
Involvement in diseasei
Bartter syndrome 4A, neonatal, with sensorineural deafness (BARTS4A)4 Publications
The disease is caused by variants 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. BARTS4A is associated with sensorineural deafness.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_019783 | 8 | R → L in BARTS4A; completely abolishes CLCNKA activation; mutated protein fails to increase surface expression of CLCNKA; intracellular localization; probably retained in the ER. 3 PublicationsCorresponds to variant dbSNP:rs74315288EnsemblClinVar. | 1 | |
Natural variantiVAR_019784 | 8 | R → W in BARTS4A; completely abolishes CLCNKA activation. 2 PublicationsCorresponds to variant dbSNP:rs74315285EnsemblClinVar. | 1 | |
Natural variantiVAR_019785 | 10 | G → S in BARTS4A; increases CLCNKA currents over those obtained with wild-type; still activates CLCNKA to an extent similar to that of wild-type; intracellular but some plasma membrane localization as well. 3 PublicationsCorresponds to variant dbSNP:rs74315287EnsemblClinVar. | 1 | |
Natural variantiVAR_019786 | 47 | G → R in BARTS4A; atypical. 1 PublicationCorresponds to variant dbSNP:rs74315289EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 54 | C → S: 38% reduction in palmitoylation. Abolishes palmitoylation; when associated with S-56. 1 Publication | 1 | |
Mutagenesisi | 56 | C → S: 74% reduction in palmitoylation. Abolishes palmitoylation; when associated with S-54. 1 Publication | 1 | |
Mutagenesisi | 98 | Y → A: Stimulation of CLCNKA and CLCNKB currents enhanced; intense localization in the plasma membrane with no intracellular localization observed. 2 Publications | 1 |
Keywords - Diseasei
Bartter syndrome, Deafness, Disease variantOrganism-specific databases
DisGeNETi | 7809 |
MalaCardsi | BSND |
MIMi | 602522, phenotype |
OpenTargetsi | ENSG00000162399 |
Orphaneti | 90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB 89938, Infantile Bartter syndrome with sensorineural deafness |
PharmGKBi | PA134911659 |
Miscellaneous databases
Pharosi | Q8WZ55, Tbio |
Genetic variation databases
BioMutai | BSND |
DMDMi | 54035724 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000064999 | 1 – 320 | BarttinAdd BLAST | 320 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Lipidationi | 54 | S-palmitoyl cysteine1 Publication | 1 | |
Lipidationi | 56 | S-palmitoyl cysteine1 Publication | 1 | |
Modified residuei | 110 | PhosphoserineBy similarity | 1 | |
Modified residuei | 168 | PhosphoserineBy similarity | 1 |
Post-translational modificationi
Palmitoylation is necessary for activation of plasma membrane-inserted CLC-K/barttin channels.1 Publication
Keywords - PTMi
Lipoprotein, Palmitate, PhosphoproteinProteomic databases
MassIVEi | Q8WZ55 |
PaxDbi | Q8WZ55 |
PeptideAtlasi | Q8WZ55 |
PRIDEi | Q8WZ55 |
ProteomicsDBi | 75220 |
PTM databases
iPTMneti | Q8WZ55 |
PhosphoSitePlusi | Q8WZ55 |
SwissPalmi | Q8WZ55 |
Expressioni
Tissue specificityi
Expressed primarily in kidney. Expressed in specific nephron segments and in the stria vascularis of the inner ear.1 Publication
Gene expression databases
Bgeei | ENSG00000162399, Expressed in adult mammalian kidney and 42 other tissues |
ExpressionAtlasi | Q8WZ55, baseline and differential |
Genevisiblei | Q8WZ55, HS |
Organism-specific databases
HPAi | ENSG00000162399, Group enriched (blood, kidney, salivary gland) |
Interactioni
Subunit structurei
Interacts with CLCNK channels. Forms heteromers with CLCNKA in the thin ascending limb of Henle and with CLCNKB in the thick ascending limb and more distal segments (By similarity).
By similarityBinary interactionsi
Hide detailsQ8WZ55
Protein-protein interaction databases
BioGRIDi | 113582, 30 interactors |
IntActi | Q8WZ55, 36 interactors |
MINTi | Q8WZ55 |
STRINGi | 9606.ENSP00000360312 |
Miscellaneous databases
RNActi | Q8WZ55, protein |
Family & Domainsi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502S3DP, Eukaryota |
GeneTreei | ENSGT00390000008549 |
HOGENOMi | CLU_078815_0_0_1 |
InParanoidi | Q8WZ55 |
OMAi | FYAMGSV |
OrthoDBi | 1577809at2759 |
PhylomeDBi | Q8WZ55 |
TreeFami | TF335975 |
Family and domain databases
InterProi | View protein in InterPro IPR029181, Barttin |
PANTHERi | PTHR28399, PTHR28399, 1 hit |
Pfami | View protein in Pfam PF15462, Barttin, 1 hit |
i Sequence
Sequence statusi: Complete.
Q8WZ55-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MADEKTFRIG FIVLGLFLLA LGTFLMSHDR PQVYGTFYAM GSVMVIGGII
60 70 80 90 100
WSMCQCYPKI TFVPADSDFQ GILSPKAMGL LENGLAAEMK SPSPQPPYVR
110 120 130 140 150
LWEEAAYDQS LPDFSHIQMK VMSYSEDHRS LLAPEMGQPK LGTSDGGEGG
160 170 180 190 200
PGDVQAWMEA AVVIHKGSDE SEGERRLTQS WPGPLACPQG PAPLASFQDD
210 220 230 240 250
LDMDSSEGSS PNASPHDREE ACSPQQEPQG CRCPLDRFQD FALIDAPTLE
260 270 280 290 300
DEPQEGQQWE IALPNNWQRY PRTKVEEKEA SDTGGEEPEK EEEDLYYGLP
310 320
DGAGDLLPDK ELGFEPDTQG
Sequence cautioni
The sequence BC069510 differs from that shown. Reason: Frameshift.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_019783 | 8 | R → L in BARTS4A; completely abolishes CLCNKA activation; mutated protein fails to increase surface expression of CLCNKA; intracellular localization; probably retained in the ER. 3 PublicationsCorresponds to variant dbSNP:rs74315288EnsemblClinVar. | 1 | |
Natural variantiVAR_019784 | 8 | R → W in BARTS4A; completely abolishes CLCNKA activation. 2 PublicationsCorresponds to variant dbSNP:rs74315285EnsemblClinVar. | 1 | |
Natural variantiVAR_019785 | 10 | G → S in BARTS4A; increases CLCNKA currents over those obtained with wild-type; still activates CLCNKA to an extent similar to that of wild-type; intracellular but some plasma membrane localization as well. 3 PublicationsCorresponds to variant dbSNP:rs74315287EnsemblClinVar. | 1 | |
Natural variantiVAR_061564 | 43 | V → I. Corresponds to variant dbSNP:rs34561376EnsemblClinVar. | 1 | |
Natural variantiVAR_019786 | 47 | G → R in BARTS4A; atypical. 1 PublicationCorresponds to variant dbSNP:rs74315289EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY034632 mRNA Translation: AAK57750.1 BC069510 mRNA No translation available. |
CCDSi | CCDS602.1 |
RefSeqi | NP_476517.1, NM_057176.2 |
Genome annotation databases
Ensembli | ENST00000651561; ENSP00000498282; ENSG00000162399 |
GeneIDi | 7809 |
KEGGi | hsa:7809 |
UCSCi | uc001cye.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY034632 mRNA Translation: AAK57750.1 BC069510 mRNA No translation available. |
CCDSi | CCDS602.1 |
RefSeqi | NP_476517.1, NM_057176.2 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 113582, 30 interactors |
IntActi | Q8WZ55, 36 interactors |
MINTi | Q8WZ55 |
STRINGi | 9606.ENSP00000360312 |
Protein family/group databases
TCDBi | 8.A.53.1.1, the clc-k accessory subunit, barttin, (barttin) family |
PTM databases
iPTMneti | Q8WZ55 |
PhosphoSitePlusi | Q8WZ55 |
SwissPalmi | Q8WZ55 |
Genetic variation databases
BioMutai | BSND |
DMDMi | 54035724 |
Proteomic databases
MassIVEi | Q8WZ55 |
PaxDbi | Q8WZ55 |
PeptideAtlasi | Q8WZ55 |
PRIDEi | Q8WZ55 |
ProteomicsDBi | 75220 |
Protocols and materials databases
Antibodypediai | 33230, 172 antibodies |
Genome annotation databases
Ensembli | ENST00000651561; ENSP00000498282; ENSG00000162399 |
GeneIDi | 7809 |
KEGGi | hsa:7809 |
UCSCi | uc001cye.4, human |
Organism-specific databases
CTDi | 7809 |
DisGeNETi | 7809 |
GeneCardsi | BSND |
HGNCi | HGNC:16512, BSND |
HPAi | ENSG00000162399, Group enriched (blood, kidney, salivary gland) |
MalaCardsi | BSND |
MIMi | 602522, phenotype 606412, gene |
neXtProti | NX_Q8WZ55 |
OpenTargetsi | ENSG00000162399 |
Orphaneti | 90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB 89938, Infantile Bartter syndrome with sensorineural deafness |
PharmGKBi | PA134911659 |
VEuPathDBi | HostDB:ENSG00000162399.6 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502S3DP, Eukaryota |
GeneTreei | ENSGT00390000008549 |
HOGENOMi | CLU_078815_0_0_1 |
InParanoidi | Q8WZ55 |
OMAi | FYAMGSV |
OrthoDBi | 1577809at2759 |
PhylomeDBi | Q8WZ55 |
TreeFami | TF335975 |
Enzyme and pathway databases
PathwayCommonsi | Q8WZ55 |
Reactomei | R-HSA-2672351, Stimuli-sensing channels |
Miscellaneous databases
BioGRID-ORCSi | 7809, 12 hits in 976 CRISPR screens |
GeneWikii | BSND |
GenomeRNAii | 7809 |
Pharosi | Q8WZ55, Tbio |
PROi | PR:Q8WZ55 |
RNActi | Q8WZ55, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000162399, Expressed in adult mammalian kidney and 42 other tissues |
ExpressionAtlasi | Q8WZ55, baseline and differential |
Genevisiblei | Q8WZ55, HS |
Family and domain databases
InterProi | View protein in InterPro IPR029181, Barttin |
PANTHERi | PTHR28399, PTHR28399, 1 hit |
Pfami | View protein in Pfam PF15462, Barttin, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | BSND_HUMAN | |
Accessioni | Q8WZ55Primary (citable) accession number: Q8WZ55 Secondary accession number(s): Q6NT28 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 11, 2004 |
Last sequence update: | March 1, 2002 | |
Last modified: | April 7, 2021 | |
This is version 143 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot