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Protein

Barttin

Gene

BSND

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Complete GO annotation...

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

HGNCiHGNC:16512. BSND.

Subcellular locationi

  • Cell membrane By similarity; Multi-pass membrane protein By similarity
  • 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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 55CytoplasmicSequence analysis
Transmembranei6 – 2621HelicalSequence analysisAdd
BLAST
Topological domaini27 – 326ExtracellularSequence analysis
Transmembranei33 – 5321HelicalSequence analysisAdd
BLAST
Topological domaini54 – 320267CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

Bartter syndrome 4A (BS4A)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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. Bartter syndrome type 4 is associated with sensorineural deafness.
See also OMIM:602522
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti8 – 81R → L in BS4A; completely abolishes CLCNKA activation; mutated protein fails to increase surface expression of CLCNKA; intracellular localization; probably retained in the ER. 3 Publications
Corresponds to variant rs74315288 [ dbSNP | Ensembl ].
VAR_019783
Natural varianti8 – 81R → W in BS4A; completely abolishes CLCNKA activation. 2 Publications
Corresponds to variant rs74315285 [ dbSNP | Ensembl ].
VAR_019784
Natural varianti10 – 101G → S in BS4A; 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 Publications
Corresponds to variant rs74315287 [ dbSNP | Ensembl ].
VAR_019785
Natural varianti47 – 471G → R in BS4A; atypical. 1 Publication
Corresponds to variant rs74315289 [ dbSNP | Ensembl ].
VAR_019786

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi54 – 541C → S: 38% reduction in palmitoylation. Abolishes palmitoylation; when associated with S-56. 1 Publication
Mutagenesisi56 – 561C → S: 74% reduction in palmitoylation. Abolishes palmitoylation; when associated with S-54. 1 Publication
Mutagenesisi98 – 981Y → A: Stimulation of CLCNKA and CLCNKB currents enhanced; intense localization in the plasma membrane with no intracellular localization observed. 2 Publications

Keywords - Diseasei

Bartter syndrome, Deafness, Disease mutation

Organism-specific databases

MalaCardsiBSND.
MIMi602522. phenotype.
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)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 320320BarttinPRO_0000064999Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Lipidationi54 – 541S-palmitoyl cysteine1 Publication
Lipidationi56 – 561S-palmitoyl cysteine1 Publication
Modified residuei110 – 1101PhosphoserineBy similarity
Modified residuei168 – 1681PhosphoserineBy similarity

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.
PhosphoSiteiQ8WZ55.
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

BgeeiQ8WZ55.
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 interactions.
IntActiQ8WZ55. 2 interactions.
MINTiMINT-4536104.
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.
OMAiDFSHIQM.
OrthoDBiEOG7BS4BK.
PhylomeDBiQ8WZ55.
TreeFamiTF335975.

Family and domain databases

InterProiIPR029181. Barttin_dom.
[Graphical view]
PfamiPF15462. Barttin. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti8 – 81R → L in BS4A; completely abolishes CLCNKA activation; mutated protein fails to increase surface expression of CLCNKA; intracellular localization; probably retained in the ER. 3 Publications
Corresponds to variant rs74315288 [ dbSNP | Ensembl ].
VAR_019783
Natural varianti8 – 81R → W in BS4A; completely abolishes CLCNKA activation. 2 Publications
Corresponds to variant rs74315285 [ dbSNP | Ensembl ].
VAR_019784
Natural varianti10 – 101G → S in BS4A; 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 Publications
Corresponds to variant rs74315287 [ dbSNP | Ensembl ].
VAR_019785
Natural varianti43 – 431V → I.
Corresponds to variant rs34561376 [ dbSNP | Ensembl ].
VAR_061564
Natural varianti47 – 471G → R in BS4A; atypical. 1 Publication
Corresponds to variant rs74315289 [ dbSNP | Ensembl ].
VAR_019786

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ8WZ55.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113582. 2 interactions.
IntActiQ8WZ55. 2 interactions.
MINTiMINT-4536104.
STRINGi9606.ENSP00000360312.

Protein family/group databases

TCDBi8.A.53.1.1. the clc-k accessory subunit, barttin, (barttin) family.

PTM databases

iPTMnetiQ8WZ55.
PhosphoSiteiQ8WZ55.
SwissPalmiQ8WZ55.

Polymorphism and mutation databases

BioMutaiBSND.
DMDMi54035724.

Proteomic databases

PaxDbiQ8WZ55.
PeptideAtlasiQ8WZ55.
PRIDEiQ8WZ55.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi7809.
GeneCardsiBSND.
HGNCiHGNC:16512. BSND.
HPAiHPA053836.
MalaCardsiBSND.
MIMi602522. phenotype.
606412. gene.
neXtProtiNX_Q8WZ55.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
89938. Infantile Bartter syndrome with sensorineural deafness.
PharmGKBiPA134911659.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J53T. Eukaryota.
ENOG410ZGZV. LUCA.
GeneTreeiENSGT00390000008549.
HOGENOMiHOG000049268.
HOVERGENiHBG050739.
InParanoidiQ8WZ55.
KOiK19331.
OMAiDFSHIQM.
OrthoDBiEOG7BS4BK.
PhylomeDBiQ8WZ55.
TreeFamiTF335975.

Enzyme and pathway databases

ReactomeiR-HSA-2672351. Stimuli-sensing channels.

Miscellaneous databases

GeneWikiiBSND.
GenomeRNAii7809.
PROiQ8WZ55.
SOURCEiSearch...

Gene expression databases

BgeeiQ8WZ55.
CleanExiHS_BSND.
ExpressionAtlasiQ8WZ55. baseline and differential.
GenevisibleiQ8WZ55. HS.

Family and domain databases

InterProiIPR029181. Barttin_dom.
[Graphical view]
PfamiPF15462. Barttin. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANTS BS4A LEU-8; TRP-8 AND SER-10.
    Tissue: Kidney.
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. "Barttin is a Cl- channel beta-subunit crucial for renal Cl-reabsorption and inner ear K+ secretion."
    Estevez R., Boettger T., Stein V., Birkenhaeger R., Otto E., Hildebrandt F., Jentsch T.J.
    Nature 414:558-561(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBUNIT, SUBCELLULAR LOCATION, MUTAGENESIS OF TYR-98.
  4. "Barttin increases surface expression and changes current properties of ClC-K channels."
    Waldegger S., Jeck N., Barth P., Peters M., Vitzthum H., Wolf K., Kurtz A., Konrad M., Seyberth H.W.
    Pflugers Arch. 444:411-418(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBUNIT, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS BS4A LEU-8; TRP-8 AND SER-10.
  5. "Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene."
    Hayama A., Rai T., Sasaki S., Uchida S.
    Histochem. Cell Biol. 119:485-493(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: MUTAGENESIS OF TYR-98, CHARACTERIZATION OF VARIANTS BS4A LEU-8 AND SER-10.
  6. "Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin."
    Miyamura N., Matsumoto K., Taguchi T., Tokunaga H., Nishikawa T., Nishida K., Toyonaga T., Sakakida M., Araki E.
    J. Clin. Endocrinol. Metab. 88:781-786(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BS4A ARG-47.
  7. "Human CLC-K channels require palmitoylation of their accessory subunit barttin to be functional."
    Steinke K.V., Gorinski N., Wojciechowski D., Todorov V., Guseva D., Ponimaskin E., Fahlke C., Fischer M.
    J. Biol. Chem. 290:17390-17400(2015) [PubMed] [Europe PMC] [Abstract]
    Cited for: PALMITOYLATION AT CYS-54 AND CYS-56, SUBCELLULAR LOCATION, MUTAGENESIS OF CYS-54 AND CYS-56.

Entry informationi

Entry nameiBSND_HUMAN
AccessioniPrimary (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: July 6, 2016
This is version 114 of the entry and version 1 of the sequence. [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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.