Details for: KCNJ1

Gene ID: 3758

Symbol: KCNJ1

Ensembl ID: ENSG00000151704

Description: potassium inwardly rectifying channel subfamily J member 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 3.24
    Marker Score: 3435
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 2.79
    Marker Score: 7468
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 2.74
    Marker Score: 6906
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 2.39
    Marker Score: 4522
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 2.06
    Marker Score: 2909
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.38
    Marker Score: 873
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.29
    Marker Score: 2623
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 1.17
    Marker Score: 1678
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.13
    Marker Score: 265
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.13
    Marker Score: 678
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.12
    Marker Score: 7475
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 1.08
    Marker Score: 1497
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.08
    Marker Score: 16969
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71827
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48051.5
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.99
    Marker Score: 764
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30409
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5356
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2740
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.88
    Marker Score: 892
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5292
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.87
    Marker Score: 1446
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.84
    Marker Score: 645
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1268
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 710
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.71
    Marker Score: 181
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.7
    Marker Score: 409.5
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.69
    Marker Score: 743
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.64
    Marker Score: 201
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.57
    Marker Score: 150
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.54
    Marker Score: 300
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.52
    Marker Score: 249.5
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 0.5
    Marker Score: 268
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.5
    Marker Score: 474
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.5
    Marker Score: 479
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.44
    Marker Score: 568
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 375
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.36
    Marker Score: 692
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.35
    Marker Score: 114
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.33
    Marker Score: 65
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.33
    Marker Score: 190
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.33
    Marker Score: 85
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.32
    Marker Score: 169
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.32
    Marker Score: 227
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.3
    Marker Score: 134
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.27
    Marker Score: 54
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.27
    Marker Score: 628
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.25
    Marker Score: 256.5
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 0.24
    Marker Score: 63
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.23
    Marker Score: 85
  • Cell Name: amacrine cell (CL0000561)
    Fold Change: 0.23
    Marker Score: 731
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.23
    Marker Score: 362
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.22
    Marker Score: 200
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.22
    Marker Score: 133
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.2
    Marker Score: 363
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.2
    Marker Score: 115
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.2
    Marker Score: 246
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.19
    Marker Score: 127
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.19
    Marker Score: 667
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.19
    Marker Score: 78
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.18
    Marker Score: 93
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.17
    Marker Score: 197.5
  • Cell Name: kidney loop of Henle epithelial cell (CL1000909)
    Fold Change: 0.16
    Marker Score: 102
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.15
    Marker Score: 265
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.15
    Marker Score: 86
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.14
    Marker Score: 52
  • Cell Name: monocyte (CL0000576)
    Fold Change: 0.14
    Marker Score: 177
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.13
    Marker Score: 88
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.13
    Marker Score: 8001
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.12
    Marker Score: 85
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.12
    Marker Score: 55
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.12
    Marker Score: 489
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.12
    Marker Score: 131
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.11
    Marker Score: 125
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.11
    Marker Score: 74
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.11
    Marker Score: 169
  • Cell Name: Unknown (CL0000003)
    Fold Change: 0.11
    Marker Score: 337
  • Cell Name: centrocyte (CL0009111)
    Fold Change: 0.1
    Marker Score: 24.5
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.1
    Marker Score: 99
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.1
    Marker Score: 112
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: 0.1
    Marker Score: 127
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.1
    Marker Score: 93
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.09
    Marker Score: 22.5
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.09
    Marker Score: 845
  • Cell Name: IgG plasmablast (CL0000982)
    Fold Change: 0.09
    Marker Score: 24.5
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 0.09
    Marker Score: 128
  • Cell Name: peritubular capillary endothelial cell (CL1001033)
    Fold Change: 0.09
    Marker Score: 20
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.09
    Marker Score: 27
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.08
    Marker Score: 173.5
  • Cell Name: glomerular endothelial cell (CL0002188)
    Fold Change: 0.08
    Marker Score: 20.5
  • Cell Name: endothelial cell of artery (CL1000413)
    Fold Change: 0.08
    Marker Score: 33
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.08
    Marker Score: 39
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.08
    Marker Score: 225
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.08
    Marker Score: 41
  • Cell Name: blood vessel smooth muscle cell (CL0019018)
    Fold Change: 0.08
    Marker Score: 20
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.08
    Marker Score: 80
  • Cell Name: vasa recta ascending limb cell (CL1001131)
    Fold Change: 0.07
    Marker Score: 19.5

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Other Information

**Key characteristics:** - KCNJ1 is a member of the potassium inwardly rectifying channel subfamily J. - It is a transmembrane protein with a single transmembrane domain. - It is a ligand-gated channel that opens upon binding of ATP. - It is localized to the plasma membrane of eukaryotic cells. **Pathways and functions:** - KCNJ1 is involved in regulating the resting membrane potential of cells by controlling the flow of potassium ions into the cell. - It is also involved in maintaining calcium homeostasis by regulating the release of calcium ions from intracellular stores. - KCNJ1 is involved in neuronal excitability by regulating the opening of voltage-gated potassium channels. - It is also involved in regulating potassium transport in various tissues, including the kidney, heart, and brain. **Clinical significance:** - Mutations in KCNJ1 have been linked to a number of human diseases, including hyperkalemia, hypokalemia, and cardiac arrhythmias. - KCNJ1 inhibitors are being investigated as potential treatments for these diseases.

Genular Protein ID: 3767839612

Symbol: KCNJ1_HUMAN

Name: ATP-sensitive inward rectifier potassium channel 1

UniProtKB Accession Codes:

P48048 B2RMR4 Q6LD67

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 CarbonylDB 1 ChEBI 1 ChEMBL 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 10 DrugCentral 1 ELM 1 EMBL 14 Ensembl 5 ExpressionAtlas 1 GO 8 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PIRSF 1 PRINTS 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 Reactome 1 RefSeq 5 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 7929082

Title: Cloning and characterization of multiple forms of the human kidney ROM-K potassium channel.

PubMed ID: 7929082

DOI: 10.1016/s0021-9258(19)51076-6

PubMed ID: 8190102

Title: Alternative splicing of human inwardly rectifying K+ channel ROMK1 mRNA.

PubMed ID: 8190102

PubMed ID: 9099852

Title: Nucleotide sequence analysis of the human KCNJ1 potassium channel locus.

PubMed ID: 9099852

DOI: 10.1016/s0378-1119(96)00759-7

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7635463

Title: Isolation and chromosomal localization of a human ATP-regulated potassium channel.

PubMed ID: 7635463

DOI: 10.1007/bf00207372

PubMed ID: 10889209

Title: Glycosylation of GIRK1 at Asn119 and ROMK1 at Asn117 has different consequences in potassium channel function.

PubMed ID: 10889209

DOI: 10.1074/jbc.m005338200

PubMed ID: 14623317

Title: Molecular requirements for the regulation of the renal outer medullary K(+) channel ROMK1 by the serum- and glucocorticoid-inducible kinase SGK1.

PubMed ID: 14623317

DOI: 10.1016/j.bbrc.2003.10.037

PubMed ID: 12684516

Title: Cell surface expression of the ROMK (Kir 1.1) channel is regulated by the aldosterone-induced kinase, SGK-1, and protein kinase A.

PubMed ID: 12684516

DOI: 10.1074/jbc.m212301200

PubMed ID: 16357011

Title: WNK3, a kinase related to genes mutated in hereditary hypertension with hyperkalaemia, regulates the K+ channel ROMK1 (Kir1.1).

PubMed ID: 16357011

DOI: 10.1113/jphysiol.2005.102202

PubMed ID: 8841184

Title: Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK.

PubMed ID: 8841184

DOI: 10.1038/ng1096-152

PubMed ID: 9002665

Title: Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity.

PubMed ID: 9002665

DOI: 10.1093/hmg/6.1.17

PubMed ID: 9727001

Title: A hyperprostaglandin E syndrome mutation in Kir1.1 (renal outer medullary potassium) channels reveals a crucial residue for channel function in Kir1.3 channels.

PubMed ID: 9727001

DOI: 10.1074/jbc.273.37.23884

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

Sequence Information:

  • Length: 391
  • Mass: 44795
  • Checksum: DF01C89B16BE6205
  • Sequence:
    • MNASSRNVFD TLIRVLTESM FKHLRKWVVT RFFGHSRQRA RLVSKDGRCN IEFGNVEAQS 
RFIFFVDIWT TVLDLKWRYK MTIFITAFLG SWFFFGLLWY AVAYIHKDLP EFHPSANHTP 
CVENINGLTS AFLFSLETQV TIGYGFRCVT EQCATAIFLL IFQSILGVII NSFMCGAILA 
KISRPKKRAK TITFSKNAVI SKRGGKLCLL IRVANLRKSL LIGSHIYGKL LKTTVTPEGE 
TIILDQININ FVVDAGNENL FFISPLTIYH VIDHNSPFFH MAAETLLQQD FELVVFLDGT 
VESTSATCQV RTSYVPEEVL WGYRFAPIVS KTKEGKYRVD FHNFSKTVEV ETPHCAMCLY 
NEKDVRARMK RGYDNPNFIL SEVNETDDTK M

Genular Protein ID: 2136438238

Symbol: A8K432_HUMAN

Name: N/A

UniProtKB Accession Codes:

A8K432

Database IDs:

ARBA 10 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 EMBL 2 GO 4 Gene3D 2 GenomeRNAi 1 InterPro 6 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSF 1 PIRSR 1 PRINTS 2 PeptideAtlas 1 Pfam 4 RefSeq 1 RuleBase 1 SAM 1 SUPFAM 2

Sequence Information:

  • Length: 391
  • Mass: 44783
  • Checksum: E7DBF89B03645DF6
  • Sequence:
    • MNASSRNVFD TLIRVLTESM FKHLRKWVVT RFFGHSRQRA RLVSKDGRCN IEFGNVEAQS 
RFIFFVDIWT TVLDLKWRYK MTIFITAFLG SWFFFGLLWY AVAYIHKDLP EFHPSANHTP 
CVENINGLTS AFLFSLETQV TIGYGFRCVT EQCATAIFLL IFQSILGVII NSFMCGAILA 
KISRPKKRAK TITFSKNAVI SKRGGKLCLL IRVANLRKSL LIGSHIYGKL LKTTVTPEGE 
TIILDQINTN FVVDAGNENL FFISPLTIYH VIDHNSPFFH MAAETLLQQD FELVVFLDGT 
VESTSATCQV RTSYVPEEVL WGYRFAPIVS KTKEGKYRVD FHNFSKTVEV ETPHCAMCLY 
NEKDVRARMK RGYDNPNFIL SEVNETDDTK M

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.