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UniProtKB - P48048 (KCNJ1_HUMAN)

Entry version 185 (10 Apr 2019)
Sequence version 1 (01 Feb 1996)
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Protein

ATP-sensitive inward rectifier potassium channel 1

Gene

KCNJ1

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

In the kidney, probably plays a major role in potassium homeostasis. 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. This channel is activated by internal ATP and can be blocked by external barium.

<p>This subsection of the ‘Function’ section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Inhibited by WNK3.1 Publication

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>Sitei171Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesiumBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi223 – 230ATPSequence analysis8

<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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<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
LigandATP-binding, Nucleotide-binding, Potassium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1296067 Potassium transport channels

SIGNOR Signaling Network Open Resource

More...SIGNORi		P48048

Protein family/group databases

Transport Classification Database

More...TCDBi		1.A.2.1.1 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:
ATP-sensitive inward rectifier potassium channel 1
Alternative name(s):
ATP-regulated potassium channel ROM-K
Inward rectifier K(+) channel Kir1.1
Potassium channel, inwardly rectifying subfamily J member 1
<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:KCNJ1
Synonyms:ROMK1
<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 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_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

More...EuPathDBi		HostDB:ENSG00000151704.15

Human Gene Nomenclature Database

More...HGNCi		HGNC:6255 KCNJ1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600359 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P48048

<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 & Seán O’Donoghue; 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 – 77CytoplasmicBy similarityAdd BLAST77
<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>Transmembranei78 – 102Helical; Name=M1By similarityAdd BLAST25
Topological domaini103 – 127ExtracellularBy similarityAdd BLAST25
<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>Intramembranei128 – 139Helical; Pore-forming; Name=H5By similarityAdd BLAST12
Intramembranei140 – 146Pore-formingBy similarity7
Topological domaini147 – 155ExtracellularBy similarity9
Transmembranei156 – 177Helical; Name=M2By similarityAdd BLAST22
Topological domaini178 – 391CytoplasmicBy similarityAdd BLAST214

Keywords - Cellular componenti

Cell membrane, 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 2, antenatal (BARTS2)3 Publications
The disease is caused by mutations 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. 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.
See also OMIM:241200
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_00154872V → E in BARTS2. 1 Publication1
Natural variantiVAR_00154974D → Y in BARTS2. 1 Publication1
Natural variantiVAR_00155099W → C in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs1213764655Ensembl.1
Natural variantiVAR_001551108D → H in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs104894250Ensembl.1
Natural variantiVAR_001552110P → L in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs373745258Ensembl.1
Natural variantiVAR_001553122V → E in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs766131330Ensembl.1
Natural variantiVAR_019724124N → K in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs104894251Ensembl.1
Natural variantiVAR_001554167G → E in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs104894254Ensembl.1
Natural variantiVAR_001555198A → T in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs104894253Ensembl.1
Natural variantiVAR_019725214A → V in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs104894246Ensembl.1
Natural variantiVAR_019726219S → R in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs104894245Ensembl.1
Natural variantiVAR_001556315V → G in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs753949204Ensembl.1
Natural variantiVAR_019727357M → T in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs59172778Ensembl.1

Keywords - Diseasei

Bartter syndrome, Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		3758

MalaCards human disease database

More...MalaCardsi		KCNJ1
MIMi241200 phenotype

Open Targets

More...OpenTargetsi		ENSG00000151704

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

More...Orphaneti		93604 Antenatal Bartter syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA213

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1293292

Drug and drug target database

More...DrugBanki		DB00414 Acetohexamide
DB08838 Agmatine
DB00217 Bethanidine
DB00222 Glimepiride
DB01382 Glycodiazine
DB00350 Minoxidil
DB01124 Tolbutamide
DB01392 Yohimbine

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		429

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		KCNJ1

Domain mapping of disease mutations (DMDM)

More...DMDMi		1352479

<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_00001549171 – 391ATP-sensitive inward rectifier potassium channel 1Add BLAST391

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 residuei44Phosphoserine; by SGK11 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi117N-linked (GlcNAc...) asparagine1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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

Phosphorylation at Ser-44 by SGK1 is necessary for its expression at the cell membrane.1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

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

More...PaxDbi		P48048

PeptideAtlas

More...PeptideAtlasi		P48048

PRoteomics IDEntifications database

More...PRIDEi		P48048

ProteomicsDB human proteome resource

More...ProteomicsDBi		55838
55839 [P48048-2]
55840 [P48048-3]

PTM databases

CarbonylDB database of protein carbonylation sites

More...CarbonylDBi		P48048

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P48048

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

More...PhosphoSitePlusi		P48048

<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

In the kidney and pancreatic islets. Lower levels in skeletal muscle, pancreas, spleen, brain, heart and liver.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000151704 Expressed in 67 organ(s), highest expression level in adult mammalian kidney

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P48048 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P48048 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA026962

<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

Interacts with SGK1 and SLC9A3R2/NHERF2.1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		109960, 4 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		P48048

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000376432

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P48048

<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

More...ProteinModelPortali		P48048

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

More...SMRi		P48048

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...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>Motifi141 – 146Selectivity 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

Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ1 subfamily. [View classification]Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3827 Eukaryota
ENOG410XQ62 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00950000182633

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000237326

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG006178

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P48048

KEGG Orthology (KO)

More...KOi		K04995

Identification of Orthologs from Complete Genome Data

More...OMAi		HPSVNHT

Database of Orthologous Groups

More...OrthoDBi		1131543at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P48048

TreeFam database of animal gene trees

More...TreeFami		TF313676

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.40.1400, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR014756 Ig_E-set
IPR016449 K_chnl_inward-rec_Kir
IPR003268 K_chnl_inward-rec_Kir1.1
IPR013518 K_chnl_inward-rec_Kir_cyto
IPR040445 Kir_TM

The PANTHER Classification System

More...PANTHERi		PTHR11767 PTHR11767, 1 hit
PTHR11767:SF6 PTHR11767:SF6, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01007 IRK, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF005465 GIRK_kir, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01321 KIR11CHANNEL
PR01320 KIRCHANNEL

Superfamily database of structural and functional annotation

More...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>Sequences (3+)i

<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.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: P48048-1) [UniParc]FASTAAdd to basket
Also known as: ROM-K1

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MNASSRNVFD TLIRVLTESM FKHLRKWVVT RFFGHSRQRA RLVSKDGRCN 
        60         70         80         90        100
IEFGNVEAQS RFIFFVDIWT TVLDLKWRYK MTIFITAFLG SWFFFGLLWY 
       110        120        130        140        150
AVAYIHKDLP EFHPSANHTP CVENINGLTS AFLFSLETQV TIGYGFRCVT 
       160        170        180        190        200
EQCATAIFLL IFQSILGVII NSFMCGAILA KISRPKKRAK TITFSKNAVI 
       210        220        230        240        250
SKRGGKLCLL IRVANLRKSL LIGSHIYGKL LKTTVTPEGE TIILDQININ 
       260        270        280        290        300
FVVDAGNENL FFISPLTIYH VIDHNSPFFH MAAETLLQQD FELVVFLDGT 
       310        320        330        340        350
VESTSATCQV RTSYVPEEVL WGYRFAPIVS KTKEGKYRVD FHNFSKTVEV 
       360        370        380        390 
ETPHCAMCLY NEKDVRARMK RGYDNPNFIL SEVNETDDTK M
Length:391
Mass (Da):44,795
Last modified:February 1, 1996 - 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:iDF01C89B16BE6205
GO
Isoform 2 (identifier: P48048-2) [UniParc]FASTAAdd to basket
Also known as: 2-4-5, ROM-K2, ROM-K4, ROM-K5, ROM-K6

The sequence of this isoform differs from the canonical sequence as follows:
     1-19: Missing.

Show »
Length:372
Mass (Da):42,660
Checksum:i31C776DE544EBC79
GO
Isoform 3 (identifier: P48048-3) [UniParc]FASTAAdd to basket
Also known as: ROM-K3

The sequence of this isoform differs from the canonical sequence as follows:
     1-12: MNASSRNVFDTL → MPTVYLCSEQ

Show »
Length:389
Mass (Da):44,611
Checksum:i68BEB24F78327116
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0C4DFP9A0A0C4DFP9_HUMAN
ATP-sensitive inward rectifier pota...
KCNJ1
139Annotation score:

Annotation score:1 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0496686R → W. Corresponds to variant dbSNP:rs34191956Ensembl.1
Natural variantiVAR_00154872V → E in BARTS2. 1 Publication1
Natural variantiVAR_00154974D → Y in BARTS2. 1 Publication1
Natural variantiVAR_00155099W → C in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs1213764655Ensembl.1
Natural variantiVAR_001551108D → H in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs104894250Ensembl.1
Natural variantiVAR_001552110P → L in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs373745258Ensembl.1
Natural variantiVAR_036426115S → F in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_001553122V → E in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs766131330Ensembl.1
Natural variantiVAR_019724124N → K in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs104894251Ensembl.1
Natural variantiVAR_001554167G → E in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs104894254Ensembl.1
Natural variantiVAR_001555198A → T in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs104894253Ensembl.1
Natural variantiVAR_019725214A → V in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs104894246Ensembl.1
Natural variantiVAR_019726219S → R in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs104894245Ensembl.1
Natural variantiVAR_001556315V → G in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs753949204Ensembl.1
Natural variantiVAR_019727357M → T in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs59172778Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0027971 – 19Missing in isoform 2. CuratedAdd BLAST19
Alternative sequenceiVSP_0027981 – 12MNASS…VFDTL → MPTVYLCSEQ in isoform 3. CuratedAdd BLAST12

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
U12541 mRNA Translation: AAA61712.1
U12542 mRNA Translation: AAA61713.1
U12543 mRNA Translation: AAA61714.1
U12544 mRNA Translation: AAA61715.1
U12545 mRNA Translation: AAA61716.1
U03884 mRNA Translation: AAA20594.1
U65406 Genomic DNA Translation: AAC51220.1
U65406 Genomic DNA Translation: AAC51221.1
U65406 Genomic DNA Translation: AAC51222.1
CH471065 Genomic DNA Translation: EAW67724.1
BC074752 mRNA Translation: AAH74752.1
BC136360 mRNA Translation: AAI36361.1
BC136361 mRNA Translation: AAI36362.1
S78737 mRNA Translation: AAB35012.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS8476.1 [P48048-1]
CCDS8477.1 [P48048-2]

Protein sequence database of the Protein Information Resource

More...PIRi		A55119

NCBI Reference Sequences

More...RefSeqi		NP_000211.1, NM_000220.4 [P48048-1]
NP_722448.1, NM_153764.2 [P48048-2]
NP_722449.3, NM_153765.2 [P48048-3]
NP_722450.1, NM_153766.2 [P48048-2]
NP_722451.1, NM_153767.3 [P48048-2]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.527830

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000324036; ENSP00000316233; ENSG00000151704 [P48048-2]
ENST00000392664; ENSP00000376432; ENSG00000151704 [P48048-1]
ENST00000392665; ENSP00000376433; ENSG00000151704 [P48048-2]
ENST00000392666; ENSP00000376434; ENSG00000151704 [P48048-2]
ENST00000440599; ENSP00000406320; ENSG00000151704 [P48048-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		3758

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:3758

UCSC genome browser

More...UCSCi		uc001qeo.3 human [P48048-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
U12541 mRNA Translation: AAA61712.1
U12542 mRNA Translation: AAA61713.1
U12543 mRNA Translation: AAA61714.1
U12544 mRNA Translation: AAA61715.1
U12545 mRNA Translation: AAA61716.1
U03884 mRNA Translation: AAA20594.1
U65406 Genomic DNA Translation: AAC51220.1
U65406 Genomic DNA Translation: AAC51221.1
U65406 Genomic DNA Translation: AAC51222.1
CH471065 Genomic DNA Translation: EAW67724.1
BC074752 mRNA Translation: AAH74752.1
BC136360 mRNA Translation: AAI36361.1
BC136361 mRNA Translation: AAI36362.1
S78737 mRNA Translation: AAB35012.1
CCDSiCCDS8476.1 [P48048-1]
CCDS8477.1 [P48048-2]
PIRiA55119
RefSeqiNP_000211.1, NM_000220.4 [P48048-1]
NP_722448.1, NM_153764.2 [P48048-2]
NP_722449.3, NM_153765.2 [P48048-3]
NP_722450.1, NM_153766.2 [P48048-2]
NP_722451.1, NM_153767.3 [P48048-2]
UniGeneiHs.527830

3D structure databases

ProteinModelPortaliP48048
SMRiP48048
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109960, 4 interactors
ELMiP48048
STRINGi9606.ENSP00000376432

Chemistry databases

BindingDBiP48048
ChEMBLiCHEMBL1293292
DrugBankiDB00414 Acetohexamide
DB08838 Agmatine
DB00217 Bethanidine
DB00222 Glimepiride
DB01382 Glycodiazine
DB00350 Minoxidil
DB01124 Tolbutamide
DB01392 Yohimbine
GuidetoPHARMACOLOGYi429

Protein family/group databases

TCDBi1.A.2.1.1 the inward rectifier k(+) channel (irk-c) family

PTM databases

CarbonylDBiP48048
iPTMnetiP48048
PhosphoSitePlusiP48048

Polymorphism and mutation databases

BioMutaiKCNJ1
DMDMi1352479

Proteomic databases

PaxDbiP48048
PeptideAtlasiP48048
PRIDEiP48048
ProteomicsDBi55838
55839 [P48048-2]
55840 [P48048-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000324036; ENSP00000316233; ENSG00000151704 [P48048-2]
ENST00000392664; ENSP00000376432; ENSG00000151704 [P48048-1]
ENST00000392665; ENSP00000376433; ENSG00000151704 [P48048-2]
ENST00000392666; ENSP00000376434; ENSG00000151704 [P48048-2]
ENST00000440599; ENSP00000406320; ENSG00000151704 [P48048-2]
GeneIDi3758
KEGGihsa:3758
UCSCiuc001qeo.3 human [P48048-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		3758
DisGeNETi3758
EuPathDBiHostDB:ENSG00000151704.15

GeneCards: human genes, protein and diseases

More...GeneCardsi		KCNJ1
HGNCiHGNC:6255 KCNJ1
HPAiHPA026962
MalaCardsiKCNJ1
MIMi241200 phenotype
600359 gene
neXtProtiNX_P48048
OpenTargetsiENSG00000151704
Orphaneti93604 Antenatal Bartter syndrome
PharmGKBiPA213

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3827 Eukaryota
ENOG410XQ62 LUCA
GeneTreeiENSGT00950000182633
HOGENOMiHOG000237326
HOVERGENiHBG006178
InParanoidiP48048
KOiK04995
OMAiHPSVNHT
OrthoDBi1131543at2759
PhylomeDBiP48048
TreeFamiTF313676

Enzyme and pathway databases

ReactomeiR-HSA-1296067 Potassium transport channels
SIGNORiP48048

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ROMK

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

More...GenomeRNAii		3758

Protein Ontology

More...PROi		PR:P48048

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000151704 Expressed in 67 organ(s), highest expression level in adult mammalian kidney
ExpressionAtlasiP48048 baseline and differential
GenevisibleiP48048 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
IPR003268 K_chnl_inward-rec_Kir1.1
IPR013518 K_chnl_inward-rec_Kir_cyto
IPR040445 Kir_TM
PANTHERiPTHR11767 PTHR11767, 1 hit
PTHR11767:SF6 PTHR11767:SF6, 1 hit
PfamiView protein in Pfam
PF01007 IRK, 1 hit
PIRSFiPIRSF005465 GIRK_kir, 1 hit
PRINTSiPR01321 KIR11CHANNEL
PR01320 KIRCHANNEL
SUPFAMiSSF81296 SSF81296, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...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 nameiKCNJ1_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: P48048
Secondary accession number(s): B2RMR4, Q6LD67
<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: February 1, 1996
Last modified: April 10, 2019
This is version 185 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
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