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.

Activity regulationⁱ

Inhibited by WNK3.1 Publication

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: UniProtKB-KW
inward rectifier potassium channel activity Source: Reactome
phosphatidylinositol-4,5-bisphosphate binding
Source: BHF-UCL
Inferred from direct assayⁱ
- 12086641

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

excretion
Source: ProtInc
Traceable author statementⁱ
- 9015377
potassium ion import Source: GO_Central
potassium ion transport
Source: ProtInc
Traceable author statementⁱ
- 9015377
regulation of ion transmembrane transport Source: UniProtKB-KW

View the complete GO annotation on QuickGO ...

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

Reactomeⁱ	R-HSA-1296067 Potassium transport channels
SIGNORⁱ	P48048

Protein family/group databases

TCDBⁱ	1.A.2.1.1 the inward rectifier k(+) channel (irk-c) family

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 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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 11

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000151704.15
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:6255 KCNJ1
MIMⁱ	600359 gene
neXtProtⁱ	NX_P48048

Topology

Feature key	Position(s)	DescriptionActions	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, 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.

Feature key	Position(s)	DescriptionActions	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 Publication	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 mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	3758
MalaCards human disease database More...MalaCardsⁱ	KCNJ1
MIMⁱ	241200 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000151704
Orphanetⁱ	93604 Antenatal Bartter syndrome
PharmGKBⁱ	PA213

Chemistry databases

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

DMDMⁱ	1352479

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

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

Keywords - PTMⁱ

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbⁱ	P48048
PeptideAtlas More...PeptideAtlasⁱ	P48048
PRIDEⁱ	P48048
ProteomicsDBⁱ	55838 55839 [P48048-2] 55840 [P48048-3]

PTM databases

CarbonylDBⁱ	P48048
iPTMnetⁱ	P48048
PhosphoSitePlusⁱ	P48048

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

Bgeeⁱ	ENSG00000151704 Expressed in 67 organ(s), highest expression level in adult mammalian kidney
CleanExⁱ	HS_KCNJ1
ExpressionAtlasⁱ	P48048 baseline and differential
Genevisibleⁱ	P48048 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA026962

HPAⁱ

HPA026962

Interactionⁱ

Subunit structureⁱ

Interacts with SGK1 and SLC9A3R2/NHERF2.1 Publication

Protein-protein interaction databases

BioGridⁱ	109960, 4 interactors
ELMⁱ	P48048
STRINGⁱ	9606.ENSP00000376432

Chemistry databases

BindingDBⁱ

P48048

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	P48048
SMRⁱ	P48048
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Motif

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Motifⁱ	141 – 146	Selectivity filterBy similarity		6

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

eggNOGⁱ	KOG3827 Eukaryota ENOG410XQ62 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00760000118842
HOGENOMⁱ	HOG000237326
HOVERGENⁱ	HBG006178
InParanoidⁱ	P48048
KEGG Orthology (KO) More...KOⁱ	K04995
OMAⁱ	KRGYDNP
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G08HC
PhylomeDBⁱ	P48048
TreeFamⁱ	TF313676

Family and domain databases

Gene3Dⁱ	2.60.40.1400, 2 hits
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
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
PIRSFⁱ	PIRSF005465 GIRK_kir, 1 hit
PRINTSⁱ	PR01321 KIR11CHANNEL PR01320 KIRCHANNEL
SUPFAMⁱ	SSF81296 SSF81296, 1 hit

Sequences (3+)ⁱ

Sequence statusⁱ: Complete.

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

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

Isoform 1 (identifier: P48048-1) [UniParc]FASTA Add 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]FASTA Add 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.

« Hide

        10         20         30         40         50
MFKHLRKWVV TRFFGHSRQR ARLVSKDGRC NIEFGNVEAQ SRFIFFVDIW 
        60         70         80         90        100
TTVLDLKWRY KMTIFITAFL GSWFFFGLLW YAVAYIHKDL PEFHPSANHT 
       110        120        130        140        150
PCVENINGLT SAFLFSLETQ VTIGYGFRCV TEQCATAIFL LIFQSILGVI 
       160        170        180        190        200
INSFMCGAIL AKISRPKKRA KTITFSKNAV ISKRGGKLCL LIRVANLRKS 
       210        220        230        240        250
LLIGSHIYGK LLKTTVTPEG ETIILDQINI NFVVDAGNEN LFFISPLTIY 
       260        270        280        290        300
HVIDHNSPFF HMAAETLLQQ DFELVVFLDG TVESTSATCQ VRTSYVPEEV 
       310        320        330        340        350
LWGYRFAPIV SKTKEGKYRV DFHNFSKTVE VETPHCAMCL YNEKDVRARM 
       360        370 
KRGYDNPNFI LSEVNETDDT KM

Show »

Length:372

Mass (Da):42,660

Checksum:ⁱ31C776DE544EBC79

GO

Isoform 3 (identifier: P48048-3) [UniParc]FASTA Add to basket

Also known as: ROM-K3

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

« Hide

        10         20         30         40         50
MPTVYLCSEQ IRVLTESMFK HLRKWVVTRF FGHSRQRARL VSKDGRCNIE 
        60         70         80         90        100
FGNVEAQSRF IFFVDIWTTV LDLKWRYKMT IFITAFLGSW FFFGLLWYAV 
       110        120        130        140        150
AYIHKDLPEF HPSANHTPCV ENINGLTSAF LFSLETQVTI GYGFRCVTEQ 
       160        170        180        190        200
CATAIFLLIF QSILGVIINS FMCGAILAKI SRPKKRAKTI TFSKNAVISK 
       210        220        230        240        250
RGGKLCLLIR VANLRKSLLI GSHIYGKLLK TTVTPEGETI ILDQININFV 
       260        270        280        290        300
VDAGNENLFF ISPLTIYHVI DHNSPFFHMA AETLLQQDFE LVVFLDGTVE 
       310        320        330        340        350
STSATCQVRT SYVPEEVLWG YRFAPIVSKT KEGKYRVDFH NFSKTVEVET 
       360        370        380 
PHCAMCLYNE KDVRARMKRG YDNPNFILSE VNETDDTKM

Show »

Length:389

Mass (Da):44,611

Checksum:ⁱ68BEB24F78327116

GO

Computationally mapped potential isoform sequencesⁱ

There is 1 potential isoform mapped to this entry.BLAST Align Show all Add to basket

	Entry	Entry name		Protein names	Gene names	Length	Annotation

	A0A0C4DFP9	A0A0C4DFP9_HUMAN		ATP-sensitive inward rectifier pota... ATP-sensitive inward rectifier potassium channel 1	KCNJ1	139	Annotation score:

Natural variant

Feature key	Position(s)	DescriptionActions	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 Publication	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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS8476.1 [P48048-1] CCDS8477.1 [P48048-2]
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]
UniGeneⁱ	Hs.527830

Genome annotation databases

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]
GeneIDⁱ	3758
KEGGⁱ	hsa:3758
UCSC genome browser More...UCSCⁱ	uc001qeo.3 human [P48048-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
P48048	Potassium inwardly-rectifying channel, subfamily J, member 1, isoform CRA_a		HUMAN		372	UniRef100_P48048
Isoform 2 of ATP-sensitive inward rectifier potassium channel 1		HUMAN		372

Protein	Similar proteins		Species	Score	Length	Source
P48048	Potassium inwardly-rectifying channel, subfamily J, member 1, isoform CRA_a		HUMAN		372	UniRef90_P48048
ATP-sensitive inward rectifier potassium channel 1		PTEAL		463
Uncharacterized protein		PAPAN		392
Uncharacterized protein		PROCO		391
Uncharacterized protein		MANLE		391
+128

Protein	Similar proteins		Species	Score	Length	Source
P48048	ATP-sensitive inward rectifier potassium channel 1		RAT		391	UniRef50_P48048
ATP-sensitive inward rectifier potassium channel 1		MOUSE		372
Potassium inwardly-rectifying channel, subfamily J, member 1, isoform CRA_a		HUMAN		372
ATP-sensitive inward rectifier potassium channel 1		PTEAL		463
Uncharacterized protein		PAPAN		392
+542

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]
UniGeneⁱ	Hs.527830

3D structure databases

ProteinModelPortalⁱ	P48048
SMRⁱ	P48048
ModBaseⁱ	Search...
MobiDBⁱ	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 DB00222 Glimepiride DB01382 Glycodiazine DB00350 Minoxidil DB01124 Tolbutamide DB01392 Yohimbine
GuidetoPHARMACOLOGYⁱ	429

Protein family/group databases

TCDBⁱ	1.A.2.1.1 the inward rectifier k(+) channel (irk-c) family

TCDBⁱ

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

PTM databases

CarbonylDBⁱ	P48048
iPTMnetⁱ	P48048
PhosphoSitePlusⁱ	P48048

Polymorphism and mutation databases

DMDMⁱ	1352479

DMDMⁱ

1352479

Proteomic databases

PaxDbⁱ	P48048
PeptideAtlasⁱ	P48048
PRIDEⁱ	P48048
ProteomicsDBⁱ	55838 55839 [P48048-2] 55840 [P48048-3]

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

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]
GeneIDⁱ	3758
KEGGⁱ	hsa:3758
UCSCⁱ	uc001qeo.3 human [P48048-1]

Organism-specific databases

CTDⁱ	3758
DisGeNETⁱ	3758
EuPathDBⁱ	HostDB:ENSG00000151704.15
GeneCardsⁱ	KCNJ1
HGNCⁱ	HGNC:6255 KCNJ1
HPAⁱ	HPA026962
MalaCardsⁱ	KCNJ1
MIMⁱ	241200 phenotype 600359 gene
neXtProtⁱ	NX_P48048
OpenTargetsⁱ	ENSG00000151704
Orphanetⁱ	93604 Antenatal Bartter syndrome
PharmGKBⁱ	PA213
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3827 Eukaryota ENOG410XQ62 LUCA
GeneTreeⁱ	ENSGT00760000118842
HOGENOMⁱ	HOG000237326
HOVERGENⁱ	HBG006178
InParanoidⁱ	P48048
KOⁱ	K04995
OMAⁱ	KRGYDNP
OrthoDBⁱ	EOG091G08HC
PhylomeDBⁱ	P48048
TreeFamⁱ	TF313676

Enzyme and pathway databases

Reactomeⁱ	R-HSA-1296067 Potassium transport channels
SIGNORⁱ	P48048

Miscellaneous databases

GeneWikiⁱ	ROMK
GenomeRNAiⁱ	3758
Protein Ontology More...PROⁱ	PR:P48048
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000151704 Expressed in 67 organ(s), highest expression level in adult mammalian kidney
CleanExⁱ	HS_KCNJ1
ExpressionAtlasⁱ	P48048 baseline and differential
Genevisibleⁱ	P48048 HS

Family and domain databases

Gene3Dⁱ	2.60.40.1400, 2 hits
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
PANTHERⁱ	PTHR11767 PTHR11767, 1 hit PTHR11767:SF6 PTHR11767:SF6, 1 hit
Pfamⁱ	View protein in Pfam PF01007 IRK, 1 hit
PIRSFⁱ	PIRSF005465 GIRK_kir, 1 hit
PRINTSⁱ	PR01321 KIR11CHANNEL PR01320 KIRCHANNEL
SUPFAMⁱ	SSF81296 SSF81296, 1 hit
ProtoNetⁱ	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:	October 10, 2018
	This is version 180 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.

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Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
SIMILARITY comments
Index of protein domains and families
Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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UniProtKB - P48048 (KCNJ1_HUMAN)

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ATP-sensitive inward rectifier potassium channel 1

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ