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UniProtKB - P48048 (KCNJ1_HUMAN)

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Protein

ATP-sensitive inward rectifier potassium channel 1

Gene

KCNJ1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • excretion Source: ProtInc
  • potassium ion import Source: GO_Central
  • potassium ion transport Source: ProtInc
  • regulation of ion transmembrane transport Source: UniProtKB-KW
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionIon channel, Voltage-gated channel
Biological processIon transport, Potassium transport, Transport
LigandATP-binding, Nucleotide-binding, Potassium

Enzyme and pathway databases

ReactomeiR-HSA-1296067 Potassium transport channels
SIGNORiP48048

Protein family/group databases

TCDBi1.A.2.1.1 the 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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000151704.15
HGNCiHGNC:6255 KCNJ1
MIMi600359 gene
neXtProtiNX_P48048

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
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

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 dbSNP:rs104894250Ensembl.1
Natural variantiVAR_001552110P → L in BARTS2. 1 PublicationCorresponds to variant dbSNP:rs373745258Ensembl.1
Natural variantiVAR_001553122V → E in BARTS2. 1 Publication1
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

DisGeNETi3758
MalaCardsiKCNJ1
MIMi241200 phenotype
OpenTargetsiENSG00000151704
Orphaneti93604 Antenatal Bartter syndrome
PharmGKBiPA213

Chemistry databases

ChEMBLiCHEMBL1293292
DrugBankiDB00414 Acetohexamide
DB08838 Agmatine
DB00217 Bethanidine
DB00222 Glimepiride
DB01382 Glycodiazine
DB00350 Minoxidil
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...) asparagine1 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
PeptideAtlasiP48048
PRIDEiP48048
ProteomicsDBi55838
55839 [P48048-2]
55840 [P48048-3]

PTM databases

CarbonylDBiP48048
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
ELMiP48048
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

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

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

Family and domain databases

Gene3Di2.60.40.1400, 2 hits
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
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

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 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 Publication1
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 Publication1
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
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

Similar proteinsi

Entry informationi

Entry nameiKCNJ1_HUMAN
AccessioniPrimary (citable) accession number: P48048
Secondary accession number(s): B2RMR4, Q6LD67
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: June 20, 2018
This is version 178 of the entry and version 1 of the sequence. See 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

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