Entity Details

Primary name KCNJ1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP48048
EntryNameKCNJ1_HUMAN
FullNameATP-sensitive inward rectifier potassium channel 1
TaxID9606
Evidenceevidence at protein level
Length391
SequenceStatuscomplete
DateCreated1996-02-01
DateModified2021-06-02

Ontological Relatives

GenesKCNJ1

GO terms

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GOName
GO:0005242 inward rectifier potassium channel activity
GO:0005524 ATP binding
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding
GO:0005886 plasma membrane
GO:0006813 potassium ion transport
GO:0007588 excretion
GO:0008076 voltage-gated potassium channel complex
GO:0015272 ATP-activated inward rectifier potassium channel activity
GO:0034765 regulation of ion transmembrane transport
GO:0071805 potassium ion transmembrane transport
GO:1990573 potassium ion import across plasma membrane

Subcellular Location

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Subcellular Location
Cell membrane

Domains

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DomainNameCategoryType
IPR003268 Potassium channel, inwardly rectifying, Kir1.1FamilyFamily
IPR013518 Potassium channel, inwardly rectifying, Kir, cytoplasmicFamilyHomologous superfamily
IPR014756 Immunoglobulin E-setFamilyHomologous superfamily
IPR016449 Potassium channel, inwardly rectifying, KirFamilyFamily
IPR040445 Potassium channel, inwardly rectifying, transmembrane domainDomainDomain
IPR041647 Inward rectifier potassium channel, C-terminalDomainDomain

Diseases

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Disease IDSourceNameDescription
241200 OMIMBartter syndrome 2, antenatal (BARTS2)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. BARTS2 is a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00217 BethanidineDrugbanksmall molecule
DB00222 GlimepirideDrugbanksmall molecule
DB00350 MinoxidilDrugbanksmall molecule
DB00414 AcetohexamideDrugbanksmall molecule
DB01124 TolbutamideDrugbanksmall molecule
DB01382 GlymidineDrugbanksmall molecule
DB01392 YohimbineDrugbanksmall molecule
DB08838 AgmatineDrugbanksmall molecule
DB11148 ButambenDrugbanksmall molecule