Entity Details

Primary name BSND_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8WZ55
EntryNameBSND_HUMAN
FullNameBarttin
TaxID9606
Evidenceevidence at protein level
Length320
SequenceStatuscomplete
DateCreated2004-10-11
DateModified2021-06-02

Ontological Relatives

GenesBSND

GO terms

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GOName
GO:0005254 chloride channel activity
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006821 chloride transport
GO:0016323 basolateral plasma membrane
GO:0017081 chloride channel regulator activity
GO:0032991 protein-containing complex
GO:0034220 ion transmembrane transport

Subcellular Location

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Subcellular Location
Cell membrane
Cytoplasm

Domains

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DomainNameCategoryType
IPR029181 BarttinFamilyFamily

Diseases

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Disease IDSourceNameDescription
602522 OMIMBartter syndrome 4A, neonatal, with sensorineural deafness (BARTS4A)A 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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

35 interactions

InteractorPartnerSourcesPublicationsLink
BSND_HUMANARL2_HUMANMINT18588884 details
BSND_HUMANARL3_HUMANMINT18588884 details
BSND_HUMANARFP1_HUMANBioGRID, IntAct32296183 details
BSND_HUMANZFPL1_HUMANBioGRID, IntAct32296183 details
BSND_HUMANJAGN1_HUMANBioGRID, IntAct32296183 details
BSND_HUMANECM29_HUMANIntAct32296183 details
BSND_HUMANVAMP3_HUMANBioGRID, IntAct32296183 details
BSND_HUMANZNT8_HUMANBioGRID, IntAct32296183 details
BSND_HUMANDCE2_HUMANBioGRID, IntAct32296183 details
BSND_HUMANCERT_HUMANBioGRID, IntAct32296183 details
BSND_HUMANCGAT2_HUMANBioGRID, IntAct32296183 details
BSND_HUMANTHAP4_HUMANBioGRID, IntAct32296183 details
BSND_HUMANMYG1_HUMANBioGRID, IntAct32296183 details
BSND_HUMANCDIPT_HUMANBioGRID, IntAct32296183 details
BSND_HUMANPLS2_HUMANBioGRID, IntAct32296183 details
BSND_HUMANIBP5_HUMANBioGRID, IntAct32296183 details
BSND_HUMANCO4A5_HUMANBioGRID, IntAct32296183 details
BSND_HUMANPTN9_HUMANBioGRID, IntAct32296183 details
BSND_HUMANAPOL2_HUMANBioGRID, IntAct32296183 details
BSND_HUMANSTX8_HUMANBioGRID, IntAct32296183 details
BSND_HUMANSPG21_HUMANBioGRID, IntAct32296183 details
BSND_HUMANADIPO_HUMANBioGRID, IntAct32296183 details
BSND_HUMANFAKD4_HUMANBioGRID, IntAct32296183 details
BSND_HUMANBMP10_HUMANBioGRID, IntAct32296183 details
BSND_HUMANTMM60_HUMANBioGRID, IntAct32296183 details
BSND_HUMANHIP1_HUMANIntAct32814053 details
BSND_HUMANLAMP2_HUMANIntAct32814053 details
BSND_HUMANWFS1_HUMANIntAct32814053 details
BSND_HUMANRNF11_HUMANIntAct32814053 details
BSND_HUMANSHLB1_HUMANIntAct32814053 details
BSND_HUMANA4_HUMANBioGRID21832049 details
BSND_HUMANFATE1_HUMANBioGRID25416956 details
BSND_HUMANPPGB_HUMANBioGRID32296183 details
BSND_HUMANPBX3_HUMANBioGRID32296183 details
BSND_HUMANCO8A2_HUMANBioGRID32296183 details