Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

ATP-sensitive inward rectifier potassium channel 1

Gene

KCNJ1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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.

Enzyme regulationi

Inhibited by WNK3.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei171Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesiumBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi223 – 230ATPSequence analysis8

GO - Molecular functioni

GO - Biological processi

  • excretion Source: ProtInc
  • potassium ion import Source: GO_Central
  • potassium ion transport Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Voltage-gated channel

Keywords - Biological processi

Ion transport, Potassium transport, Transport

Keywords - Ligandi

ATP-binding, Nucleotide-binding, Potassium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000151704-MONOMER.
ReactomeiR-HSA-1296067. Potassium transport channels.
SIGNORiP48048.

Protein family/group databases

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

Names & Taxonomyi

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
Gene namesi
Name:KCNJ1
Synonyms:ROMK1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:6255. KCNJ1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 77CytoplasmicBy similarityAdd BLAST77
Transmembranei78 – 102Helical; Name=M1By similarityAdd BLAST25
Topological domaini103 – 127ExtracellularBy similarityAdd BLAST25
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

GO - Cellular componenti

  • plasma membrane Source: Reactome
  • voltage-gated potassium channel complex Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

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
Natural variantiVAR_00154872V → E in BARTS2. 1 Publication1
Natural variantiVAR_00154974D → Y in BARTS2. 1 Publication1
Natural variantiVAR_00155099W → C in BARTS2. 1 Publication1
Natural variantiVAR_001551108D → H in BARTS2. 1 PublicationCorresponds to variant rs104894250dbSNPEnsembl.1
Natural variantiVAR_001552110P → L in BARTS2. 1 PublicationCorresponds to variant rs373745258dbSNPEnsembl.1
Natural variantiVAR_001553122V → E in BARTS2. 1 Publication1
Natural variantiVAR_019724124N → K in BARTS2. 1 PublicationCorresponds to variant rs104894251dbSNPEnsembl.1
Natural variantiVAR_001554167G → E in BARTS2. 1 PublicationCorresponds to variant rs104894254dbSNPEnsembl.1
Natural variantiVAR_001555198A → T in BARTS2. 1 PublicationCorresponds to variant rs104894253dbSNPEnsembl.1
Natural variantiVAR_019725214A → V in BARTS2. 1 PublicationCorresponds to variant rs104894246dbSNPEnsembl.1
Natural variantiVAR_019726219S → R in BARTS2. 1 PublicationCorresponds to variant rs104894245dbSNPEnsembl.1
Natural variantiVAR_001556315V → G in BARTS2. 1 PublicationCorresponds to variant rs753949204dbSNPEnsembl.1
Natural variantiVAR_019727357M → T in BARTS2. 1 PublicationCorresponds to variant rs59172778dbSNPEnsembl.1

Keywords - Diseasei

Bartter syndrome, Disease mutation

Organism-specific databases

DisGeNETi3758.
MalaCardsiKCNJ1.
MIMi241200. phenotype.
OpenTargetsiENSG00000151704.
Orphaneti93604. Antenatal Bartter syndrome.
PharmGKBiPA213.

Chemistry databases

ChEMBLiCHEMBL1293292.
DrugBankiDB00217. Bethanidine.
DB00222. Glimepiride.
DB01016. Glyburide.
DB01382. Glycodiazine.
DB00350. Minoxidil.
DB00839. Tolazamide.
DB01124. Tolbutamide.
DB01392. Yohimbine.
GuidetoPHARMACOLOGYi429.

Polymorphism and mutation databases

DMDMi1352479.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001549171 – 391ATP-sensitive inward rectifier potassium channel 1Add BLAST391

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei44Phosphoserine; by SGK11 Publication1
Glycosylationi117N-linked (GlcNAc...)1 Publication1

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

PaxDbiP48048.
PRIDEiP48048.

PTM databases

iPTMnetiP48048.
PhosphoSitePlusiP48048.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000151704.
CleanExiHS_KCNJ1.
ExpressionAtlasiP48048. baseline and differential.
GenevisibleiP48048. HS.

Organism-specific databases

HPAiHPA026962.

Interactioni

Subunit structurei

Interacts with SGK1 and SLC9A3R2/NHERF2.1 Publication

Protein-protein interaction databases

BioGridi109960. 4 interactors.
MINTiMINT-90062.
STRINGi9606.ENSP00000376432.

Chemistry databases

BindingDBiP48048.

Structurei

3D structure databases

ProteinModelPortaliP48048.
SMRiP48048.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi141 – 146Selectivity filterBy similarity6

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3827. Eukaryota.
ENOG410XQ62. LUCA.
GeneTreeiENSGT00760000118842.
HOGENOMiHOG000237326.
HOVERGENiHBG006178.
InParanoidiP48048.
KOiK04995.
OMAiWYAVAYI.
OrthoDBiEOG091G08HC.
PhylomeDBiP48048.
TreeFamiTF313676.

Family and domain databases

Gene3Di2.60.40.1400. 1 hit.
InterProiIPR014756. Ig_E-set.
IPR016449. K_chnl_inward-rec_Kir.
IPR003268. K_chnl_inward-rec_Kir1.1.
IPR013518. K_chnl_inward-rec_Kir_cyto.
[Graphical view]
PANTHERiPTHR11767. PTHR11767. 1 hit.
PTHR11767:SF6. PTHR11767:SF6. 1 hit.
PfamiPF01007. IRK. 1 hit.
[Graphical view]
PIRSFiPIRSF005465. GIRK_kir. 1 hit.
PRINTSiPR01321. KIR11CHANNEL.
PR01320. KIRCHANNEL.
SUPFAMiSSF81296. SSF81296. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

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
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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0496686R → W.Corresponds to variant rs34191956dbSNPEnsembl.1
Natural variantiVAR_00154872V → E in BARTS2. 1 Publication1
Natural variantiVAR_00154974D → Y in BARTS2. 1 Publication1
Natural variantiVAR_00155099W → C in BARTS2. 1 Publication1
Natural variantiVAR_001551108D → H in BARTS2. 1 PublicationCorresponds to variant rs104894250dbSNPEnsembl.1
Natural variantiVAR_001552110P → L in BARTS2. 1 PublicationCorresponds to variant rs373745258dbSNPEnsembl.1
Natural variantiVAR_036426115S → F in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_001553122V → E in BARTS2. 1 Publication1
Natural variantiVAR_019724124N → K in BARTS2. 1 PublicationCorresponds to variant rs104894251dbSNPEnsembl.1
Natural variantiVAR_001554167G → E in BARTS2. 1 PublicationCorresponds to variant rs104894254dbSNPEnsembl.1
Natural variantiVAR_001555198A → T in BARTS2. 1 PublicationCorresponds to variant rs104894253dbSNPEnsembl.1
Natural variantiVAR_019725214A → V in BARTS2. 1 PublicationCorresponds to variant rs104894246dbSNPEnsembl.1
Natural variantiVAR_019726219S → R in BARTS2. 1 PublicationCorresponds to variant rs104894245dbSNPEnsembl.1
Natural variantiVAR_001556315V → G in BARTS2. 1 PublicationCorresponds to variant rs753949204dbSNPEnsembl.1
Natural variantiVAR_019727357M → T in BARTS2. 1 PublicationCorresponds to variant rs59172778dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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.

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
MINTiMINT-90062.
STRINGi9606.ENSP00000376432.

Chemistry databases

BindingDBiP48048.
ChEMBLiCHEMBL1293292.
DrugBankiDB00217. Bethanidine.
DB00222. Glimepiride.
DB01016. Glyburide.
DB01382. Glycodiazine.
DB00350. Minoxidil.
DB00839. Tolazamide.
DB01124. Tolbutamide.
DB01392. Yohimbine.
GuidetoPHARMACOLOGYi429.

Protein family/group databases

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

PTM databases

iPTMnetiP48048.
PhosphoSitePlusiP48048.

Polymorphism and mutation databases

DMDMi1352479.

Proteomic databases

PaxDbiP48048.
PRIDEiP48048.

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

CTDi3758.
DisGeNETi3758.
GeneCardsiKCNJ1.
HGNCiHGNC:6255. KCNJ1.
HPAiHPA026962.
MalaCardsiKCNJ1.
MIMi241200. phenotype.
600359. gene.
neXtProtiNX_P48048.
OpenTargetsiENSG00000151704.
Orphaneti93604. Antenatal Bartter syndrome.
PharmGKBiPA213.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3827. Eukaryota.
ENOG410XQ62. LUCA.
GeneTreeiENSGT00760000118842.
HOGENOMiHOG000237326.
HOVERGENiHBG006178.
InParanoidiP48048.
KOiK04995.
OMAiWYAVAYI.
OrthoDBiEOG091G08HC.
PhylomeDBiP48048.
TreeFamiTF313676.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000151704-MONOMER.
ReactomeiR-HSA-1296067. Potassium transport channels.
SIGNORiP48048.

Miscellaneous databases

GeneWikiiROMK.
GenomeRNAii3758.
PROiP48048.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000151704.
CleanExiHS_KCNJ1.
ExpressionAtlasiP48048. baseline and differential.
GenevisibleiP48048. HS.

Family and domain databases

Gene3Di2.60.40.1400. 1 hit.
InterProiIPR014756. Ig_E-set.
IPR016449. K_chnl_inward-rec_Kir.
IPR003268. K_chnl_inward-rec_Kir1.1.
IPR013518. K_chnl_inward-rec_Kir_cyto.
[Graphical view]
PANTHERiPTHR11767. PTHR11767. 1 hit.
PTHR11767:SF6. PTHR11767:SF6. 1 hit.
PfamiPF01007. IRK. 1 hit.
[Graphical view]
PIRSFiPIRSF005465. GIRK_kir. 1 hit.
PRINTSiPR01321. KIR11CHANNEL.
PR01320. KIRCHANNEL.
SUPFAMiSSF81296. SSF81296. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiKCNJ1_HUMAN
AccessioniPrimary (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: November 2, 2016
This is version 167 of the entry and version 1 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.