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Protein

G protein-activated inward rectifier potassium channel 4

Gene

KCNJ5

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

This potassium channel is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by external barium.5 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei179Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesiumBy similarity1

<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

  • G-protein activated inward rectifier potassium channel activity Source: UniProtKB
  • inward rectifier potassium channel activity Source: GO_Central
  • voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization Source: BHF-UCL
  • voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization Source: BHF-UCL

GO - Biological processi

<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>Keywordsi

Molecular functionIon channel, Voltage-gated channel
Biological processIon transport, Potassium transport, Transport
LigandPotassium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-1296041 Activation of G protein gated Potassium channels
R-HSA-997272 Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits

SIGNOR Signaling Network Open Resource

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SIGNORi
P48544

Protein family/group databases

Transport Classification Database

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TCDBi
1.A.2.1.3 the inward rectifier k(+) channel (irk-c) 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_and_taxonomy_section">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:
G protein-activated inward rectifier potassium channel 4
Short name:
GIRK-4
Alternative name(s):
Cardiac inward rectifier
Short name:
CIR
Heart KATP channel
Inward rectifier K(+) channel Kir3.4
Short name:
IRK-4
KATP-1
Potassium channel, inwardly rectifying subfamily J member 5
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:KCNJ5
Synonyms:GIRK4
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000120457.11

Human Gene Nomenclature Database

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HGNCi
HGNC:6266 KCNJ5

Online Mendelian Inheritance in Man (OMIM)

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MIMi
600734 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P48544

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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 – 86CytoplasmicBy similarityAdd BLAST86
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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>Transmembranei87 – 111Helical; Name=M1By similarityAdd BLAST25
Topological domaini112 – 135ExtracellularBy similarityAdd BLAST24
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei136 – 147Helical; Pore-forming; Name=H5By similarityAdd BLAST12
Intramembranei148 – 154Pore-formingBy similarity7
Topological domaini155 – 163ExtracellularBy similarity9
Transmembranei164 – 185Helical; Name=M2By similarityAdd BLAST22
Topological domaini186 – 419CytoplasmicBy similarityAdd BLAST234

Keywords - Cellular componenti

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

Long QT syndrome 13 (LQT13)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613485
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_063766387G → R in LQT13. 1 PublicationCorresponds to variant dbSNP:rs199830292EnsemblClinVar.1
Hyperaldosteronism, familial, 3 (HALD3)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613677
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067090151G → E in HALD3; results in a profound alteration of channel function with loss of channel selectivity and membrane depolarization. 3 PublicationsCorresponds to variant dbSNP:rs587777437EnsemblClinVar.1
Natural variantiVAR_065930151G → R in HALD3; detected as germline mutation in a kindred with severe primary aldosteronism and adrenocortical hyperplasia; also found as somatic mutation in aldosterone-producing adrenal adenoma samples; results in loss of channel selectivity and membrane depolarization. 6 PublicationsCorresponds to variant dbSNP:rs386352319EnsemblClinVar.1
Natural variantiVAR_077577152Y → C in HALD3; results in alteration of channel function with reduced channel selectivity and membrane depolarization; increases expression of CYP11B2 and its transcriptional regulator NR4A2. 1 Publication1
Natural variantiVAR_077578157I → S in HALD3; loss of channel selectivity. 1 PublicationCorresponds to variant dbSNP:rs587777438EnsemblClinVar.1
Natural variantiVAR_065931158T → A in HALD3; also found in aldosterone-producing adrenal adenoma samples; results in loss of channel selectivity and membrane depolarization; increases expression of CYP11B2 and its transcriptional regulators NR4A2 and ATF2; increases aldosterone and hybrid steroids 18-oxocortisol and 18-hydroxycortisol synthesis; increases STAR expression and phosphorylation. 5 PublicationsCorresponds to variant dbSNP:rs387906778EnsemblClinVar.1
Somatic mutations in KCNJ5 have been found in aldosterone-producing adrenal adenomas and can be responsible for aldosteronism associated with cell autonomous proliferation. APAs are typically solitary, well circumscribed tumors diagnosed between ages 30 and 70. They come to medical attention due to new or worsening hypertension, often with hypokalemia. The precise role of KCNJ5 mutations in APA is under debate. They produce increased sodium conductance and cell depolarization, which in adrenal glomerulosa cells produces calcium entry, the signal for aldosterone production and cell proliferation. However, they may not be causative of APA development but may be a consequence of tumorigenesis, playing only a contributory role toward aldosterone overproduction and tumor growth (PubMed:22275527). Somatic mutations in KCNJ5 have not been found in non-aldosterone secreting adrenal adenomas suggesting that they are specifically associated with APA (PubMed:22275527 and PubMed:22848660).4 Publications
Mutations in KCNJ5 are involved in the pathogenesis of hypertension without primary aldosteronism but with increased aldosterone response to ACTH stimulation.1 Publication

Keywords - Diseasei

Disease mutation, Long QT syndrome

Organism-specific databases

DisGeNET

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DisGeNETi
3762

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
KCNJ5

MalaCards human disease database

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MalaCardsi
KCNJ5
MIMi613485 phenotype
613677 phenotype

Open Targets

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OpenTargetsi
ENSG00000120457

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

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Orphaneti
37553 Cardiodysrhythmic potassium-sensitive periodic paralysis
251274 Familial hyperaldosteronism type III
85142 NON RARE IN EUROPE: Aldosterone-producing adenoma
101016 Romano-Ward syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA216

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL3038488

Drug and drug target database

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DrugBanki
DB00898 Ethanol
DB01016 Glyburide

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
437

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
KCNJ5

Domain mapping of disease mutations (DMDM)

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DMDMi
296434543

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001549341 – 419G protein-activated inward rectifier potassium channel 4Add BLAST419

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 residuei5PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P48544

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

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PaxDbi
P48544

PeptideAtlas

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PeptideAtlasi
P48544

PRoteomics IDEntifications database

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PRIDEi
P48544

ProteomicsDB human proteome resource

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ProteomicsDBi
55900

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P48544

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

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PhosphoSitePlusi
P48544

<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

Islets, exocrine pancreas and heart. Expressed in the adrenal cortex, particularly the zona glomerulosa.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000120457 Expressed in 154 organ(s), highest expression level in adrenal gland

CleanEx database of gene expression profiles

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CleanExi
HS_KCNJ5

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P48544 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB022569
HPA014722
HPA017353

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

May associate with GIRK1 and GIRK2 to form a G-protein-activated heteromultimer pore-forming unit. The resulting inward current is much larger.By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
109964, 17 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-3278 I(KACh) inward rectifier potassium channel complex

Protein interaction database and analysis system

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IntActi
P48544, 1 interactor

STRING: functional protein association networks

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STRINGi
9606.ENSP00000339960

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
P48544

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P48544

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P48544

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<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

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi149 – 154Selectivity filterBy similarity6

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3827 Eukaryota
ENOG410XQ62 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000153880

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000237325

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG006178

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P48544

KEGG Orthology (KO)

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KOi
K04999

Identification of Orthologs from Complete Genome Data

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OMAi
QARDYIP

Database for complete collections of gene phylogenies

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PhylomeDBi
P48544

TreeFam database of animal gene trees

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TreeFami
TF313676

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.40.1400, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR014756 Ig_E-set
IPR016449 K_chnl_inward-rec_Kir
IPR003277 K_chnl_inward-rec_Kir3.4
IPR013518 K_chnl_inward-rec_Kir_cyto
IPR040445 Kir_TM

The PANTHER Classification System

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PANTHERi
PTHR11767 PTHR11767, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF01007 IRK, 1 hit

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF005465 GIRK_kir, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR01330 KIR34CHANNEL
PR01320 KIRCHANNEL

Superfamily database of structural and functional annotation

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SUPFAMi
SSF81296 SSF81296, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

P48544-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAGDSRNAMN QDMEIGVTPW DPKKIPKQAR DYVPIATDRT RLLAEGKKPR
60 70 80 90 100
QRYMEKSGKC NVHHGNVQET YRYLSDLFTT LVDLKWRFNL LVFTMVYTVT
110 120 130 140 150
WLFFGFIWWL IAYIRGDLDH VGDQEWIPCV ENLSGFVSAF LFSIETETTI
160 170 180 190 200
GYGFRVITEK CPEGIILLLV QAILGSIVNA FMVGCMFVKI SQPKKRAETL
210 220 230 240 250
MFSNNAVISM RDEKLCLMFR VGDLRNSHIV EASIRAKLIK SRQTKEGEFI
260 270 280 290 300
PLNQTDINVG FDTGDDRLFL VSPLIISHEI NQKSPFWEMS QAQLHQEEFE
310 320 330 340 350
VVVILEGMVE ATGMTCQARS SYMDTEVLWG HRFTPVLTLE KGFYEVDYNT
360 370 380 390 400
FHDTYETNTP SCCAKELAEM KREGRLLQYL PSPPLLGGCA EAGLDAEAEQ
410
NEEDEPKGLG GSREARGSV
Length:419
Mass (Da):47,668
Last modified:May 18, 2010 - v2
<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:i7C14A6B0B7EA0FD4
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti35I → T in AAB07045 (PubMed:10659995).Curated1
Sequence conflicti388G → R in CAA58565 (PubMed:8047164).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06592939R → H1 PublicationCorresponds to variant dbSNP:rs560269341Ensembl.1
Natural variantiVAR_069182145E → Q Found in aldosterone-producing adrenal adenoma samples; somatic mutation. 1 Publication1
Natural variantiVAR_067090151G → E in HALD3; results in a profound alteration of channel function with loss of channel selectivity and membrane depolarization. 3 PublicationsCorresponds to variant dbSNP:rs587777437EnsemblClinVar.1
Natural variantiVAR_065930151G → R in HALD3; detected as germline mutation in a kindred with severe primary aldosteronism and adrenocortical hyperplasia; also found as somatic mutation in aldosterone-producing adrenal adenoma samples; results in loss of channel selectivity and membrane depolarization. 6 PublicationsCorresponds to variant dbSNP:rs386352319EnsemblClinVar.1
Natural variantiVAR_077577152Y → C in HALD3; results in alteration of channel function with reduced channel selectivity and membrane depolarization; increases expression of CYP11B2 and its transcriptional regulator NR4A2. 1 Publication1
Natural variantiVAR_077578157I → S in HALD3; loss of channel selectivity. 1 PublicationCorresponds to variant dbSNP:rs587777438EnsemblClinVar.1
Natural variantiVAR_065931158T → A in HALD3; also found in aldosterone-producing adrenal adenoma samples; results in loss of channel selectivity and membrane depolarization; increases expression of CYP11B2 and its transcriptional regulators NR4A2 and ATF2; increases aldosterone and hybrid steroids 18-oxocortisol and 18-hydroxycortisol synthesis; increases STAR expression and phosphorylation. 5 PublicationsCorresponds to variant dbSNP:rs387906778EnsemblClinVar.1
Natural variantiVAR_065932168L → R Found in aldosterone-producing adrenal adenoma samples; somatic mutation; results in loss of channel selectivity and membrane depolarization. 5 PublicationsCorresponds to variant dbSNP:rs386352318EnsemblClinVar.1
Natural variantiVAR_065933210M → I1 PublicationCorresponds to variant dbSNP:rs138295501EnsemblClinVar.1
Natural variantiVAR_077579259V → M Found in patients with hypertension with ACTH-dependent aldosterone hypersecretion; unknown pathological significance; no effect on channel function. 1 PublicationCorresponds to variant dbSNP:rs759363415Ensembl.1
Natural variantiVAR_063107282Q → E6 PublicationsCorresponds to variant dbSNP:rs7102584EnsemblClinVar.1
Natural variantiVAR_077580348Y → N Probable disease-associated mutation found in patients with hypertension with ACTH-dependent aldosterone hypersecretion; loss of channel selectivity. 1 Publication1
Natural variantiVAR_063766387G → R in LQT13. 1 PublicationCorresponds to variant dbSNP:rs199830292EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
U39195 mRNA Translation: AAB53093.1
X83582 mRNA Translation: CAA58565.1
L47208 mRNA Translation: AAB07269.1
U52154 mRNA Translation: AAB07045.1
D50134 mRNA Translation: BAA08814.1
AP000920 Genomic DNA No translation available.
AK312837 mRNA Translation: BAG35691.1
BC069571 mRNA Translation: AAH69571.1
BC074838 mRNA Translation: AAH74838.2
BC069386 mRNA Translation: AAH69386.1
BC069482 mRNA Translation: AAH69482.1
BC069499 mRNA Translation: AAH69499.1
BC074839 mRNA Translation: AAH74839.2

The Consensus CDS (CCDS) project

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CCDSi
CCDS8479.1

Protein sequence database of the Protein Information Resource

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PIRi
G02232

NCBI Reference Sequences

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RefSeqi
NP_000881.3, NM_000890.3
XP_011541111.1, XM_011542809.2
XP_011541112.1, XM_011542810.2

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.444595
Hs.632109

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000338350; ENSP00000339960; ENSG00000120457
ENST00000529694; ENSP00000433295; ENSG00000120457
ENST00000533599; ENSP00000434266; ENSG00000120457

Database of genes from NCBI RefSeq genomes

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GeneIDi
3762

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:3762

UCSC genome browser

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UCSCi
uc001qet.4 human

Keywords - Coding sequence diversityi

Polymorphism

<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
U39195 mRNA Translation: AAB53093.1
X83582 mRNA Translation: CAA58565.1
L47208 mRNA Translation: AAB07269.1
U52154 mRNA Translation: AAB07045.1
D50134 mRNA Translation: BAA08814.1
AP000920 Genomic DNA No translation available.
AK312837 mRNA Translation: BAG35691.1
BC069571 mRNA Translation: AAH69571.1
BC074838 mRNA Translation: AAH74838.2
BC069386 mRNA Translation: AAH69386.1
BC069482 mRNA Translation: AAH69482.1
BC069499 mRNA Translation: AAH69499.1
BC074839 mRNA Translation: AAH74839.2
CCDSiCCDS8479.1
PIRiG02232
RefSeqiNP_000881.3, NM_000890.3
XP_011541111.1, XM_011542809.2
XP_011541112.1, XM_011542810.2
UniGeneiHs.444595
Hs.632109

3D structure databases

ProteinModelPortaliP48544
SMRiP48544
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109964, 17 interactors
ComplexPortaliCPX-3278 I(KACh) inward rectifier potassium channel complex
IntActiP48544, 1 interactor
STRINGi9606.ENSP00000339960

Chemistry databases

BindingDBiP48544
ChEMBLiCHEMBL3038488
DrugBankiDB00898 Ethanol
DB01016 Glyburide
GuidetoPHARMACOLOGYi437

Protein family/group databases

TCDBi1.A.2.1.3 the inward rectifier k(+) channel (irk-c) family

PTM databases

iPTMnetiP48544
PhosphoSitePlusiP48544

Polymorphism and mutation databases

BioMutaiKCNJ5
DMDMi296434543

Proteomic databases

jPOSTiP48544
PaxDbiP48544
PeptideAtlasiP48544
PRIDEiP48544
ProteomicsDBi55900

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
3762
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000338350; ENSP00000339960; ENSG00000120457
ENST00000529694; ENSP00000433295; ENSG00000120457
ENST00000533599; ENSP00000434266; ENSG00000120457
GeneIDi3762
KEGGihsa:3762
UCSCiuc001qet.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
3762
DisGeNETi3762
EuPathDBiHostDB:ENSG00000120457.11

GeneCards: human genes, protein and diseases

More...
GeneCardsi
KCNJ5
GeneReviewsiKCNJ5
HGNCiHGNC:6266 KCNJ5
HPAiCAB022569
HPA014722
HPA017353
MalaCardsiKCNJ5
MIMi600734 gene
613485 phenotype
613677 phenotype
neXtProtiNX_P48544
OpenTargetsiENSG00000120457
Orphaneti37553 Cardiodysrhythmic potassium-sensitive periodic paralysis
251274 Familial hyperaldosteronism type III
85142 NON RARE IN EUROPE: Aldosterone-producing adenoma
101016 Romano-Ward syndrome
PharmGKBiPA216

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3827 Eukaryota
ENOG410XQ62 LUCA
GeneTreeiENSGT00940000153880
HOGENOMiHOG000237325
HOVERGENiHBG006178
InParanoidiP48544
KOiK04999
OMAiQARDYIP
PhylomeDBiP48544
TreeFamiTF313676

Enzyme and pathway databases

ReactomeiR-HSA-1296041 Activation of G protein gated Potassium channels
R-HSA-997272 Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits
SIGNORiP48544

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
KCNJ5 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
KCNJ5

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

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GenomeRNAii
3762

Protein Ontology

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PROi
PR:P48544

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000120457 Expressed in 154 organ(s), highest expression level in adrenal gland
CleanExiHS_KCNJ5
GenevisibleiP48544 HS

Family and domain databases

Gene3Di2.60.40.1400, 1 hit
InterProiView protein in InterPro
IPR014756 Ig_E-set
IPR016449 K_chnl_inward-rec_Kir
IPR003277 K_chnl_inward-rec_Kir3.4
IPR013518 K_chnl_inward-rec_Kir_cyto
IPR040445 Kir_TM
PANTHERiPTHR11767 PTHR11767, 1 hit
PfamiView protein in Pfam
PF01007 IRK, 1 hit
PIRSFiPIRSF005465 GIRK_kir, 1 hit
PRINTSiPR01330 KIR34CHANNEL
PR01320 KIRCHANNEL
SUPFAMiSSF81296 SSF81296, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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 nameiKCNJ5_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: P48544
Secondary accession number(s): B2R744
, Q6DK13, Q6DK14, Q92807
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: May 18, 2010
Last modified: January 16, 2019
This is version 182 of the entry and version 2 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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
  5. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
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