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Protein

Barttin

Gene

BSND

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

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

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-2672351 Stimuli-sensing channels

Protein family/group databases

TCDBi8.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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000162399.6
HGNCiHGNC:16512 BSND
MIMi606412 gene
neXtProtiNX_Q8WZ55

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 – 5CytoplasmicSequence analysis5
Transmembranei6 – 26HelicalSequence analysisAdd BLAST21
Topological domaini27 – 32ExtracellularSequence analysis6
Transmembranei33 – 53HelicalSequence analysisAdd BLAST21
Topological domaini54 – 320CytoplasmicSequence analysisAdd BLAST267

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

Bartter syndrome 4A, neonatal, with sensorineural deafness (BARTS4A)4 Publications
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. BARTS4A is associated with sensorineural deafness.
See also OMIM:602522
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0197838R → 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:rs74315288Ensembl.1
Natural variantiVAR_0197848R → W in BARTS4A; completely abolishes CLCNKA activation. 2 PublicationsCorresponds to variant dbSNP:rs74315285Ensembl.1
Natural variantiVAR_01978510G → 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:rs74315287Ensembl.1
Natural variantiVAR_01978647G → R in BARTS4A; atypical. 1 PublicationCorresponds to variant dbSNP:rs74315289Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi54C → S: 38% reduction in palmitoylation. Abolishes palmitoylation; when associated with S-56. 1 Publication1
Mutagenesisi56C → S: 74% reduction in palmitoylation. Abolishes palmitoylation; when associated with S-54. 1 Publication1
Mutagenesisi98Y → A: Stimulation of CLCNKA and CLCNKB currents enhanced; intense localization in the plasma membrane with no intracellular localization observed. 2 Publications1

Keywords - Diseasei

Bartter syndrome, Deafness, Disease mutation

Organism-specific databases

DisGeNETi7809
MalaCardsiBSND
MIMi602522 phenotype
OpenTargetsiENSG00000162399
Orphaneti90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
89938 Infantile Bartter syndrome with sensorineural deafness
PharmGKBiPA134911659

Polymorphism and mutation databases

BioMutaiBSND
DMDMi54035724

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000649991 – 320BarttinAdd BLAST320

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi54S-palmitoyl cysteine1 Publication1
Lipidationi56S-palmitoyl cysteine1 Publication1
Modified residuei110PhosphoserineBy similarity1
Modified residuei168PhosphoserineBy similarity1

Post-translational modificationi

Palmitoylation is necessary for activation of plasma membrane-inserted CLC-K/barttin channels.1 Publication

Keywords - PTMi

Lipoprotein, Palmitate, Phosphoprotein

Proteomic databases

PaxDbiQ8WZ55
PeptideAtlasiQ8WZ55
PRIDEiQ8WZ55

PTM databases

iPTMnetiQ8WZ55
PhosphoSitePlusiQ8WZ55
SwissPalmiQ8WZ55

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

BgeeiENSG00000162399
CleanExiHS_BSND
ExpressionAtlasiQ8WZ55 baseline and differential
GenevisibleiQ8WZ55 HS

Organism-specific databases

HPAiHPA053836

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 similarity

Protein-protein interaction databases

BioGridi113582, 2 interactors
IntActiQ8WZ55, 4 interactors
MINTiQ8WZ55
STRINGi9606.ENSP00000360312

Structurei

3D structure databases

ProteinModelPortaliQ8WZ55
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410J53T Eukaryota
ENOG410ZGZV LUCA
GeneTreeiENSGT00390000008549
HOGENOMiHOG000049268
HOVERGENiHBG050739
InParanoidiQ8WZ55
KOiK19331
OMAiQCYPKIT
OrthoDBiEOG091G0IJM
PhylomeDBiQ8WZ55
TreeFamiTF335975

Family and domain databases

InterProiView protein in InterPro
IPR029181 Barttin
PANTHERiPTHR28399 PTHR28399, 1 hit
PfamiView protein in Pfam
PF15462 Barttin, 1 hit

Sequencei

Sequence statusi: Complete.

Q8WZ55-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:320
Mass (Da):35,197
Last modified:March 1, 2002 - v1
Checksum:iDED232CAF85AE5AA
GO

Sequence cautioni

The sequence BC069510 differs from that shown. Reason: Frameshift at several positions.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0197838R → 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:rs74315288Ensembl.1
Natural variantiVAR_0197848R → W in BARTS4A; completely abolishes CLCNKA activation. 2 PublicationsCorresponds to variant dbSNP:rs74315285Ensembl.1
Natural variantiVAR_01978510G → 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:rs74315287Ensembl.1
Natural variantiVAR_06156443V → I. Corresponds to variant dbSNP:rs34561376Ensembl.1
Natural variantiVAR_01978647G → R in BARTS4A; atypical. 1 PublicationCorresponds to variant dbSNP:rs74315289Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY034632 mRNA Translation: AAK57750.1
BC069510 mRNA No translation available.
CCDSiCCDS602.1
RefSeqiNP_476517.1, NM_057176.2
UniGeneiHs.151291

Genome annotation databases

EnsembliENST00000371265; ENSP00000360312; ENSG00000162399
GeneIDi7809
KEGGihsa:7809
UCSCiuc001cye.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiBSND_HUMAN
AccessioniPrimary (citable) accession number: Q8WZ55
Secondary accession number(s): Q6NT28
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 11, 2004
Last sequence update: March 1, 2002
Last modified: April 25, 2018
This is version 124 of the entry and version 1 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health