UniProtKB - P48048 (KCNJ1_HUMAN)
ATP-sensitive inward rectifier potassium channel 1
KCNJ1
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.
1 PublicationActivity regulationi
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 171 | Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesiumBy similarity | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 223 – 230 | ATPSequence analysis | 8 |
GO - Molecular functioni
- ATP-activated inward rectifier potassium channel activity Source: GO_Central
- ATP binding Source: ARUK-UCL
- inward rectifier potassium channel activity Source: UniProtKB
- phosphatidylinositol-4,5-bisphosphate binding Source: BHF-UCL
GO - Biological processi
- potassium ion import across plasma membrane Source: UniProtKB
- regulation of ion transmembrane transport Source: GO_Central
Keywordsi
Molecular function | Ion channel, Voltage-gated channel |
Biological process | Ion transport, Potassium transport, Transport |
Ligand | ATP-binding, Nucleotide-binding, Potassium |
Enzyme and pathway databases
PathwayCommonsi | P48048 |
Reactomei | R-HSA-1296067, Potassium transport channels |
SignaLinki | P48048 |
SIGNORi | P48048 |
Protein family/group databases
TCDBi | 1.A.2.1.1, the inward rectifier k(+) channel (irk-c) family |
Names & Taxonomyi
Protein namesi | Recommended name: ATP-sensitive inward rectifier potassium channel 1Alternative name(s): ATP-regulated potassium channel ROM-K Inward rectifier K(+) channel Kir1.1 Potassium channel, inwardly rectifying subfamily J member 1 |
Gene namesi | Name:KCNJ1 Synonyms:ROMK1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:6255, KCNJ1 |
MIMi | 600359, gene |
neXtProti | NX_P48048 |
VEuPathDBi | HostDB:ENSG00000151704 |
Subcellular locationi
Plasma membrane
- Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication
Note: Phosphorylation at Ser-44 by SGK1 is necessary for its expression at the cell membrane.1 Publication
Plasma Membrane
- plasma membrane Source: GO_Central
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 77 | CytoplasmicBy similarityAdd BLAST | 77 | |
Transmembranei | 78 – 102 | Helical; Name=M1By similarityAdd BLAST | 25 | |
Topological domaini | 103 – 127 | ExtracellularBy similarityAdd BLAST | 25 | |
Intramembranei | 128 – 139 | Helical; Pore-forming; Name=H5By similarityAdd BLAST | 12 | |
Intramembranei | 140 – 146 | Pore-formingBy similarity | 7 | |
Topological domaini | 147 – 155 | ExtracellularBy similarity | 9 | |
Transmembranei | 156 – 177 | Helical; Name=M2By similarityAdd BLAST | 22 | |
Topological domaini | 178 – 391 | CytoplasmicBy similarityAdd BLAST | 214 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
Bartter syndrome 2, antenatal (BARTS2)3 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_001548 | 72 | V → E in BARTS2. 1 Publication | 1 | |
Natural variantiVAR_001549 | 74 | D → Y in BARTS2. 1 Publication | 1 | |
Natural variantiVAR_001550 | 99 | W → C in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs1213764655Ensembl. | 1 | |
Natural variantiVAR_001551 | 108 | D → H in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs104894250Ensembl. | 1 | |
Natural variantiVAR_001552 | 110 | P → L in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs373745258Ensembl. | 1 | |
Natural variantiVAR_001553 | 122 | V → E in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs766131330Ensembl. | 1 | |
Natural variantiVAR_019724 | 124 | N → K in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs104894251Ensembl. | 1 | |
Natural variantiVAR_001554 | 167 | G → E in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs104894254Ensembl. | 1 | |
Natural variantiVAR_001555 | 198 | A → T in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs104894253Ensembl. | 1 | |
Natural variantiVAR_019725 | 214 | A → V in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs104894246Ensembl. | 1 | |
Natural variantiVAR_019726 | 219 | S → R in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs104894245Ensembl. | 1 | |
Natural variantiVAR_001556 | 315 | V → G in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs753949204Ensembl. | 1 | |
Natural variantiVAR_019727 | 357 | M → T in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs59172778Ensembl. | 1 |
Keywords - Diseasei
Bartter syndrome, Disease variantOrganism-specific databases
DisGeNETi | 3758 |
MalaCardsi | KCNJ1 |
MIMi | 241200, phenotype |
OpenTargetsi | ENSG00000151704 |
Orphaneti | 93604, Antenatal Bartter syndrome |
PharmGKBi | PA213 |
Miscellaneous databases
Pharosi | P48048, Tchem |
Chemistry databases
ChEMBLi | CHEMBL1293292 |
DrugBanki | DB00414, Acetohexamide DB08838, Agmatine DB00217, Bethanidine DB11148, Butamben DB00222, Glimepiride DB01382, Glymidine DB00350, Minoxidil DB01124, Tolbutamide DB01392, Yohimbine |
DrugCentrali | P48048 |
GuidetoPHARMACOLOGYi | 429 |
Genetic variation databases
BioMutai | KCNJ1 |
DMDMi | 1352479 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000154917 | 1 – 391 | ATP-sensitive inward rectifier potassium channel 1Add BLAST | 391 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 44 | Phosphoserine; by SGK11 Publication | 1 | |
Glycosylationi | 117 | N-linked (GlcNAc...) asparagine1 Publication | 1 |
Post-translational modificationi
Keywords - PTMi
Glycoprotein, PhosphoproteinProteomic databases
MassIVEi | P48048 |
PaxDbi | P48048 |
PeptideAtlasi | P48048 |
PRIDEi | P48048 |
ProteomicsDBi | 55838 [P48048-1] 55839 [P48048-2] 55840 [P48048-3] |
PTM databases
CarbonylDBi | P48048 |
GlyGeni | P48048, 1 site |
iPTMneti | P48048 |
PhosphoSitePlusi | P48048 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000151704, Expressed in adult mammalian kidney and 90 other tissues |
ExpressionAtlasi | P48048, baseline and differential |
Genevisiblei | P48048, HS |
Organism-specific databases
HPAi | ENSG00000151704, Tissue enriched (kidney) |
Interactioni
Subunit structurei
Interacts with SGK1 and SLC9A3R2/NHERF2.
1 PublicationProtein-protein interaction databases
BioGRIDi | 109960, 4 interactors |
ELMi | P48048 |
STRINGi | 9606.ENSP00000376432 |
Chemistry databases
BindingDBi | P48048 |
Miscellaneous databases
RNActi | P48048, protein |
Family & Domainsi
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 141 – 146 | Selectivity filterBy similarity | 6 |
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3827, Eukaryota |
GeneTreei | ENSGT00990000203615 |
HOGENOMi | CLU_022738_3_0_1 |
InParanoidi | P48048 |
PhylomeDBi | P48048 |
TreeFami | TF313676 |
Family and domain databases
Gene3Di | 2.60.40.1400, 1 hit |
InterProi | View protein in InterPro IPR014756, Ig_E-set IPR041647, IRK_C IPR016449, K_chnl_inward-rec_Kir IPR003268, K_chnl_inward-rec_Kir1.1 IPR013518, K_chnl_inward-rec_Kir_cyto IPR040445, Kir_TM |
PANTHERi | PTHR11767, PTHR11767, 1 hit PTHR11767:SF6, PTHR11767:SF6, 1 hit |
Pfami | View protein in Pfam PF01007, IRK, 1 hit PF17655, IRK_C, 1 hit |
PIRSFi | PIRSF005465, GIRK_kir, 1 hit |
PRINTSi | PR01320, KIRCHANNEL |
SUPFAMi | SSF81296, SSF81296, 1 hit |
s (3)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_049668 | 6 | R → W. Corresponds to variant dbSNP:rs34191956Ensembl. | 1 | |
Natural variantiVAR_001548 | 72 | V → E in BARTS2. 1 Publication | 1 | |
Natural variantiVAR_001549 | 74 | D → Y in BARTS2. 1 Publication | 1 | |
Natural variantiVAR_001550 | 99 | W → C in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs1213764655Ensembl. | 1 | |
Natural variantiVAR_001551 | 108 | D → H in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs104894250Ensembl. | 1 | |
Natural variantiVAR_001552 | 110 | P → L in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs373745258Ensembl. | 1 | |
Natural variantiVAR_036426 | 115 | S → F in a breast cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_001553 | 122 | V → E in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs766131330Ensembl. | 1 | |
Natural variantiVAR_019724 | 124 | N → K in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs104894251Ensembl. | 1 | |
Natural variantiVAR_001554 | 167 | G → E in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs104894254Ensembl. | 1 | |
Natural variantiVAR_001555 | 198 | A → T in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs104894253Ensembl. | 1 | |
Natural variantiVAR_019725 | 214 | A → V in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs104894246Ensembl. | 1 | |
Natural variantiVAR_019726 | 219 | S → R in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs104894245Ensembl. | 1 | |
Natural variantiVAR_001556 | 315 | V → G in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs753949204Ensembl. | 1 | |
Natural variantiVAR_019727 | 357 | M → T in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs59172778Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_002797 | 1 – 19 | Missing in isoform 2. CuratedAdd BLAST | 19 | |
Alternative sequenceiVSP_002798 | 1 – 12 | MNASS…VFDTL → MPTVYLCSEQ in isoform 3. CuratedAdd BLAST | 12 |
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 |
CCDSi | CCDS8476.1 [P48048-1] CCDS8477.1 [P48048-2] |
PIRi | A55119 |
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] |
Genome annotation databases
Ensembli | ENST00000324036.7; ENSP00000316233.3; ENSG00000151704.16 [P48048-2] ENST00000392664.2; ENSP00000376432.2; ENSG00000151704.16 ENST00000392665.6; ENSP00000376433.2; ENSG00000151704.16 [P48048-2] ENST00000392666.6; ENSP00000376434.1; ENSG00000151704.16 [P48048-2] ENST00000440599.6; ENSP00000406320.2; ENSG00000151704.16 [P48048-2] |
GeneIDi | 3758 |
KEGGi | hsa:3758 |
MANE-Selecti | ENST00000392666.6; ENSP00000376434.1; NM_153766.3; NP_722450.1 [P48048-2] |
UCSCi | uc001qeo.3, human [P48048-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS8476.1 [P48048-1] CCDS8477.1 [P48048-2] |
PIRi | A55119 |
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] |
3D structure databases
AlphaFoldDBi | P48048 |
SMRi | P48048 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 109960, 4 interactors |
ELMi | P48048 |
STRINGi | 9606.ENSP00000376432 |
Chemistry databases
BindingDBi | P48048 |
ChEMBLi | CHEMBL1293292 |
DrugBanki | DB00414, Acetohexamide DB08838, Agmatine DB00217, Bethanidine DB11148, Butamben DB00222, Glimepiride DB01382, Glymidine DB00350, Minoxidil DB01124, Tolbutamide DB01392, Yohimbine |
DrugCentrali | P48048 |
GuidetoPHARMACOLOGYi | 429 |
Protein family/group databases
TCDBi | 1.A.2.1.1, the inward rectifier k(+) channel (irk-c) family |
PTM databases
CarbonylDBi | P48048 |
GlyGeni | P48048, 1 site |
iPTMneti | P48048 |
PhosphoSitePlusi | P48048 |
Genetic variation databases
BioMutai | KCNJ1 |
DMDMi | 1352479 |
Proteomic databases
MassIVEi | P48048 |
PaxDbi | P48048 |
PeptideAtlasi | P48048 |
PRIDEi | P48048 |
ProteomicsDBi | 55838 [P48048-1] 55839 [P48048-2] 55840 [P48048-3] |
Protocols and materials databases
Antibodypediai | 33020, 285 antibodies from 31 providers |
DNASUi | 3758 |
Genome annotation databases
Ensembli | ENST00000324036.7; ENSP00000316233.3; ENSG00000151704.16 [P48048-2] ENST00000392664.2; ENSP00000376432.2; ENSG00000151704.16 ENST00000392665.6; ENSP00000376433.2; ENSG00000151704.16 [P48048-2] ENST00000392666.6; ENSP00000376434.1; ENSG00000151704.16 [P48048-2] ENST00000440599.6; ENSP00000406320.2; ENSG00000151704.16 [P48048-2] |
GeneIDi | 3758 |
KEGGi | hsa:3758 |
MANE-Selecti | ENST00000392666.6; ENSP00000376434.1; NM_153766.3; NP_722450.1 [P48048-2] |
UCSCi | uc001qeo.3, human [P48048-1] |
Organism-specific databases
CTDi | 3758 |
DisGeNETi | 3758 |
GeneCardsi | KCNJ1 |
HGNCi | HGNC:6255, KCNJ1 |
HPAi | ENSG00000151704, Tissue enriched (kidney) |
MalaCardsi | KCNJ1 |
MIMi | 241200, phenotype 600359, gene |
neXtProti | NX_P48048 |
OpenTargetsi | ENSG00000151704 |
Orphaneti | 93604, Antenatal Bartter syndrome |
PharmGKBi | PA213 |
VEuPathDBi | HostDB:ENSG00000151704 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3827, Eukaryota |
GeneTreei | ENSGT00990000203615 |
HOGENOMi | CLU_022738_3_0_1 |
InParanoidi | P48048 |
PhylomeDBi | P48048 |
TreeFami | TF313676 |
Enzyme and pathway databases
PathwayCommonsi | P48048 |
Reactomei | R-HSA-1296067, Potassium transport channels |
SignaLinki | P48048 |
SIGNORi | P48048 |
Miscellaneous databases
BioGRID-ORCSi | 3758, 10 hits in 1075 CRISPR screens |
GeneWikii | ROMK |
GenomeRNAii | 3758 |
Pharosi | P48048, Tchem |
PROi | PR:P48048 |
RNActi | P48048, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000151704, Expressed in adult mammalian kidney and 90 other tissues |
ExpressionAtlasi | P48048, baseline and differential |
Genevisiblei | P48048, HS |
Family and domain databases
Gene3Di | 2.60.40.1400, 1 hit |
InterProi | View protein in InterPro IPR014756, Ig_E-set IPR041647, IRK_C IPR016449, K_chnl_inward-rec_Kir IPR003268, K_chnl_inward-rec_Kir1.1 IPR013518, K_chnl_inward-rec_Kir_cyto IPR040445, Kir_TM |
PANTHERi | PTHR11767, PTHR11767, 1 hit PTHR11767:SF6, PTHR11767:SF6, 1 hit |
Pfami | View protein in Pfam PF01007, IRK, 1 hit PF17655, IRK_C, 1 hit |
PIRSFi | PIRSF005465, GIRK_kir, 1 hit |
PRINTSi | PR01320, KIRCHANNEL |
SUPFAMi | SSF81296, SSF81296, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | KCNJ1_HUMAN | |
Accessioni | P48048Primary (citable) accession number: P48048 Secondary accession number(s): B2RMR4, Q6LD67 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 1, 1996 |
Last sequence update: | February 1, 1996 | |
Last modified: | May 25, 2022 | |
This is version 202 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families