Entity Details

Primary name KCNJ5_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP48544
EntryNameKCNJ5_HUMAN
FullNameG protein-activated inward rectifier potassium channel 4
TaxID9606
Evidenceevidence at protein level
Length419
SequenceStatuscomplete
DateCreated1996-02-01
DateModified2021-06-02

Ontological Relatives

GenesKCNJ5

GO terms

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GOName
GO:0005886 plasma membrane
GO:0006813 potassium ion transport
GO:0008076 voltage-gated potassium channel complex
GO:0009897 external side of plasma membrane
GO:0015467 G-protein activated inward rectifier potassium channel activity
GO:0030315 T-tubule
GO:0034765 regulation of ion transmembrane transport
GO:0086089 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization
GO:0086091 regulation of heart rate by cardiac conduction
GO:0098914 membrane repolarization during atrial cardiac muscle cell action potential
GO:0099625 ventricular cardiac muscle cell membrane repolarization
GO:1901381 positive regulation of potassium ion transmembrane transport
GO:1902282 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization
GO:1990573 potassium ion import across plasma membrane

Subcellular Location

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Subcellular Location
Membrane

Domains

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DomainNameCategoryType
IPR003277 Potassium channel, inwardly rectifying, Kir3.4FamilyFamily
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
613677 OMIMHyperaldosteronism, familial, 3 (HALD3)A form of hyperaldosteronism characterized by hypertension secondary to massive adrenal mineralocorticoid production. HALD3 patients present with childhood hypertension, elevated aldosteronism levels, and high levels of the hybrid steroids 18-oxocortisol and 18-hydroxycortisol. Hypertension and aldosteronism are not reversed by administration of exogenous glucocorticoids and patients require adrenalectomy to control hypertension. The disease is caused by variants affecting the gene represented in this entry.
613485 OMIMLong QT syndrome 13 (LQT13)A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00898 EthanolDrugbanksmall molecule
DB08954 IfenprodilDrugbanksmall molecule