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UniProtKB - Q8WZ55 (BSND_HUMAN)

Entry version 143 (07 Apr 2021)
Sequence version 1 (01 Mar 2002)
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Protein

Barttin

Gene

BSND

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

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

<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 ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8WZ55

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-2672351, Stimuli-sensing channels

Protein family/group databases

Transport Classification Database

More...TCDBi		8.A.53.1.1, the clc-k accessory subunit, barttin, (barttin) family

<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%5Fand%5Ftaxonomy%5Fsection">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:
Barttin
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:BSND
Synonyms:BART
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

Human Gene Nomenclature Database

More...HGNCi		HGNC:16512, BSND

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		606412, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8WZ55

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000162399.6

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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 – 5CytoplasmicSequence analysis5
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>Transmembranei6 – 26HelicalSequence analysisAdd BLAST21
Topological domaini27 – 32ExtracellularSequence analysis6
Transmembranei33 – 53HelicalSequence analysisAdd BLAST21
Topological domaini54 – 320CytoplasmicSequence analysisAdd BLAST267

<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>Keywords - Cellular componenti

Cell membrane, Cytoplasm, 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 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 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_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:rs74315288EnsemblClinVar.1
Natural variantiVAR_0197848R → W in BARTS4A; completely abolishes CLCNKA activation. 2 PublicationsCorresponds to variant dbSNP:rs74315285EnsemblClinVar.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:rs74315287EnsemblClinVar.1
Natural variantiVAR_01978647G → R in BARTS4A; atypical. 1 PublicationCorresponds to variant dbSNP:rs74315289EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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 variant

Organism-specific databases

DisGeNET

More...DisGeNETi		7809

MalaCards human disease database

More...MalaCardsi		BSND
MIMi602522, phenotype

Open Targets

More...OpenTargetsi		ENSG00000162399

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB
89938, Infantile Bartter syndrome with sensorineural deafness

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134911659

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8WZ55, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		BSND

Domain mapping of disease mutations (DMDM)

More...DMDMi		54035724

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000649991 – 320BarttinAdd BLAST320

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi54S-palmitoyl cysteine1 Publication1
Lipidationi56S-palmitoyl cysteine1 Publication1
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei110PhosphoserineBy similarity1
Modified residuei168PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8WZ55

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q8WZ55

PeptideAtlas

More...PeptideAtlasi		Q8WZ55

PRoteomics IDEntifications database

More...PRIDEi		Q8WZ55

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		75220

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8WZ55

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q8WZ55

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q8WZ55

<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 primarily in kidney. Expressed in specific nephron segments and in the stria vascularis of the inner ear.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000162399, Expressed in adult mammalian kidney and 42 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8WZ55, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8WZ55, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000162399, Group enriched (blood, kidney, salivary gland)

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		113582, 30 interactors

Protein interaction database and analysis system

More...IntActi		Q8WZ55, 36 interactors

Molecular INTeraction database

More...MINTi		Q8WZ55

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000360312

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8WZ55, protein

<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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502S3DP, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000008549

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_078815_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8WZ55

Identification of Orthologs from Complete Genome Data

More...OMAi		FYAMGSV

Database of Orthologous Groups

More...OrthoDBi		1577809at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8WZ55

TreeFam database of animal gene trees

More...TreeFami		TF335975

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR029181, Barttin

The PANTHER Classification System

More...PANTHERi		PTHR28399, PTHR28399, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF15462, Barttin, 1 hit

<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%5Flength">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>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

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
<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:iDED232CAF85AE5AA
GO

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BC069510 differs from that shown. Reason: Frameshift.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:rs74315288EnsemblClinVar.1
Natural variantiVAR_0197848R → W in BARTS4A; completely abolishes CLCNKA activation. 2 PublicationsCorresponds to variant dbSNP:rs74315285EnsemblClinVar.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:rs74315287EnsemblClinVar.1
Natural variantiVAR_06156443V → I. Corresponds to variant dbSNP:rs34561376EnsemblClinVar.1
Natural variantiVAR_01978647G → R in BARTS4A; atypical. 1 PublicationCorresponds to variant dbSNP:rs74315289EnsemblClinVar.1

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
AY034632 mRNA Translation: AAK57750.1
BC069510 mRNA No translation available.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS602.1

NCBI Reference Sequences

More...RefSeqi		NP_476517.1, NM_057176.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000651561; ENSP00000498282; ENSG00000162399

Database of genes from NCBI RefSeq genomes

More...GeneIDi		7809

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:7809

UCSC genome browser

More...UCSCi		uc001cye.4, human

<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
AY034632 mRNA Translation: AAK57750.1
BC069510 mRNA No translation available.
CCDSiCCDS602.1
RefSeqiNP_476517.1, NM_057176.2

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi113582, 30 interactors
IntActiQ8WZ55, 36 interactors
MINTiQ8WZ55
STRINGi9606.ENSP00000360312

Protein family/group databases

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

PTM databases

iPTMnetiQ8WZ55
PhosphoSitePlusiQ8WZ55
SwissPalmiQ8WZ55

Genetic variation databases

BioMutaiBSND
DMDMi54035724

Proteomic databases

MassIVEiQ8WZ55
PaxDbiQ8WZ55
PeptideAtlasiQ8WZ55
PRIDEiQ8WZ55
ProteomicsDBi75220

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		33230, 172 antibodies

Genome annotation databases

EnsembliENST00000651561; ENSP00000498282; ENSG00000162399
GeneIDi7809
KEGGihsa:7809
UCSCiuc001cye.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		7809
DisGeNETi7809

GeneCards: human genes, protein and diseases

More...GeneCardsi		BSND
HGNCiHGNC:16512, BSND
HPAiENSG00000162399, Group enriched (blood, kidney, salivary gland)
MalaCardsiBSND
MIMi602522, phenotype
606412, gene
neXtProtiNX_Q8WZ55
OpenTargetsiENSG00000162399
Orphaneti90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB
89938, Infantile Bartter syndrome with sensorineural deafness
PharmGKBiPA134911659
VEuPathDBiHostDB:ENSG00000162399.6

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502S3DP, Eukaryota
GeneTreeiENSGT00390000008549
HOGENOMiCLU_078815_0_0_1
InParanoidiQ8WZ55
OMAiFYAMGSV
OrthoDBi1577809at2759
PhylomeDBiQ8WZ55
TreeFamiTF335975

Enzyme and pathway databases

PathwayCommonsiQ8WZ55
ReactomeiR-HSA-2672351, Stimuli-sensing channels

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		7809, 12 hits in 976 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		BSND

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

More...GenomeRNAii		7809
PharosiQ8WZ55, Tbio

Protein Ontology

More...PROi		PR:Q8WZ55
RNActiQ8WZ55, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000162399, Expressed in adult mammalian kidney and 42 other tissues
ExpressionAtlasiQ8WZ55, baseline and differential
GenevisibleiQ8WZ55, HS

Family and domain databases

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

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 nameiBSND_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: Q8WZ55
Secondary accession number(s): Q6NT28
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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