Property Summary

NCBI Gene PubMed Count 51
PubMed Score 296.43
PubTator Score 178.48

Knowledge Summary

Patent (6,980)

Expression

  Differential Expression (5)

Disease log2 FC p
nephrosclerosis -1.527 3.6e-02
medulloblastoma, large-cell 1.600 5.8e-04
adult high grade glioma 1.100 2.1e-02
ovarian cancer 1.300 3.4e-09
psoriasis -1.500 5.1e-26

MLP Assay (7)

AID Type Active / Inconclusive / Inactive Description
1916 confirmatory 11 / 0 / 7 High throughput discovery of novel modulators of ROMK K+ channel activity: Analog Dose-Response
1917 other 1623 / 308 / 1102 High throughput discovery of novel modulators of ROMK K+ channel activity: Retest of Primary Hits
1918 screening 2464 / 0 / 122832 High throughput discovery of novel modulators of ROMK K+ channel activity: Primary Screen
2404 confirmatory 1 / 0 / 0 Manual electrophysiological patch clamp assay and ROMK specificity of compounds that inhibit/block inward-rectifying potassium ion channel Kir2.1
2436 summary 0 / 0 / 0 High-throughput Discovery of Novel Modulators of ROMK K+ Channel Activity
2753 confirmatory 114 / 0 / 127 High throughput discovery of novel modulators of ROMK K+ channel activity: Dose-Response Assay
435017 confirmatory 3 / 0 / 14 High throughput discovery of novel modulators of ROMK K+ channel activity: Analog Library Testing

Gene RIF (36)

PMID Text
25805816 WNK4 is a substrate of SFKs and the association of c-Src and PTP-1D with WNK4 at Tyr(1092) and Tyr(1143) plays an important role in modulating the inhibitory effect of WNK4 on ROMK
25344677 knockdown of KCNJ1 in HK-2 cells promoted cell proliferation. Collectively, these data highlight that KCNJ1, low-expressed in ccRCC and associated with poor prognosis, plays an important role in ccRCC cell growth and metastasis
25165391 The association between polymorphisms in KCNJ1, SLC12A1, and 7 other genes and calcium intake and colorectal neoplasia risk was studied.
23782368 Molecular analysis revealed a compound heterozygous mutation in the KCNJ1 gene, consisting of a novel K76E and an already described V315G mutation, both affecting functional domains of the channel protein.
23211697 Findings suggest that 11q24 is a susceptible locus for openness, with KCNJ1 as the possible candidate gene.
22907731 A KCNJ1 SNP was associated with increased FG during HCTZ treatment.
21631963 no mutation in the KCNJ1 gene, among patients suffering from bartter and Gitelman syndromes
21355052 PI3K-activating hormones inhibit ROMK by enhancing its endocytosis via a mechanism that involves phosphorylation of WNK1 by Akt1 and SGK1.
21081491 THGP modulation of ROMK function confers a new role of THGP on renal ion transport and may contribute to salt wasting observed in FJHN/MCKD-2/GCKD patients.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20424473 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20219833 KCNJ1 mutations are associated with Bartter syndrome.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19710010 POSH inhibits ROMK channels by enhancing dynamin-dependent and clathrin-independent endocytosis and by stimulating ubiquitination of ROMK channels.
19706464 c-Src inhibits SGK1-mediated phosphorylation hereby restoring the WNK4-mediated inhibition of ROMK channels thus suppressing K secretion.
19349416 Regulation of renal outer medullary potassium channel and renal K(+) excretion by Klotho.
19272129 These results suggest that the conformation of the cytoplasmic pore in the Kir1.1 channel changes in response to pHi gating such that the N- and C-termini move apart from each other at pHi 7.4, when the channel is open.
19244242 KS-WNK1 is an important physiological regulator of renal K(+) excretion, likely through its effects on the ROMK1 channel.
19170254 hydrophobic leucines at the cytoplasmic end of the inner transmembrane helices comprise the principal pH gate of Kir1.1, a gate that can be relocated from 160-Kir1.1b to 157-Kir1.1b.
19096086 In a large cohort of ante/neonatal Bartter syndrome, deafness, transient hyperkalaemia and severe hypokalaemic hypochloraemic alkalosis orientate molecular investigations to BSND, KCNJ1 and CLCNKB genes, respectively.
18755144 These results confirm the important role of the acidic motif of WNK4 in its protein-protein interaction with the ROMK channel.
18550644 Multiple intra- and/or intermolecular interactions of WNK1 domains are at play for regulation of ROMK1 by WNK1 in the kidney.
18443236 Five polymorphisms in the KCNJ1 gene coding for the potassium channel, ROMK, showed associations with mean 24-hour systolic or diastolic blood pressure.
18443236 Observational study of gene-disease association. (HuGE Navigator)
18391953 Members of the Framingham Heart Study were screened for variation in three genes-SLC12A3, SLC12A1 and KCNJ1 causing rare recessive diseases featuring large reductions in blood pressure.
18391953 Observational study of gene-disease association. (HuGE Navigator)
18211905 CD63 plays a role in the regulation of ROMK channels through its association with RPTPalpha, which in turn interacts with and activates Src family PTK, thus reducing ROMK activity.
17401586 A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism.
17380208 molecular mechanism for stimulation of endocytosis of ROMK1 by WNK kinases
16428287 ROMK is antagonistically regulated by long and kidney-specific WNK1 isoforms
15987778 NH(2)-terminal phosphorylation modifying a COOH-terminal ER retention signal in ROMK1 could serve as a checkpoint for proper subunit folding critical to channel gating.
15895241 Findings support the proposed role of ROMK channels in potassium recycling and in the regulation of K+ secretion and present a rationale for the phenotype observed in patients with ROMK deficiency.
12589089 In a heterozgous Bartter syndrome patient, AA exchanges Arg338Stop & Met357Thr in ROMK exon 5 alter the C-terminus of the ROMK protein & can affect channel function.
12381810 One disease-causing mutation in the ROMK channel truncates the extreme COOH-terminus and induces a closed gating conformation.
12221079 ROMK1 is a substrate of PKC and that serine residues 4 and 201 are the two main PKC phosphorylation sites that are essential for the expression of ROMK1 in the cell surface

AA Sequence

MNASSRNVFDTLIRVLTESMFKHLRKWVVTRFFGHSRQRARLVSKDGRCNIEFGNVEAQSRFIFFVDIWT      1 - 70
TVLDLKWRYKMTIFITAFLGSWFFFGLLWYAVAYIHKDLPEFHPSANHTPCVENINGLTSAFLFSLETQV     71 - 140
TIGYGFRCVTEQCATAIFLLIFQSILGVIINSFMCGAILAKISRPKKRAKTITFSKNAVISKRGGKLCLL    141 - 210
IRVANLRKSLLIGSHIYGKLLKTTVTPEGETIILDQININFVVDAGNENLFFISPLTIYHVIDHNSPFFH    211 - 280
MAAETLLQQDFELVVFLDGTVESTSATCQVRTSYVPEEVLWGYRFAPIVSKTKEGKYRVDFHNFSKTVEV    281 - 350
ETPHCAMCLYNEKDVRARMKRGYDNPNFILSEVNETDDTKM                                 351 - 391
//

Text Mined References (55)

PMID Year Title
25805816 2015 Src-family protein tyrosine kinase phosphorylates WNK4 and modulates its inhibitory effect on KCNJ1 (ROMK).
25344677 2015 KCNJ1 inhibits tumor proliferation and metastasis and is a prognostic factor in clear cell renal cell carcinoma.
25165391 2014 Calcium intake and ion transporter genetic polymorphisms interact in human colorectal neoplasia risk in a 2-phase study.
23782368 2013 Expanding the spectrum of genetic mutations in antenatal Bartter syndrome type II.
23211697 2013 Refining genome-wide linkage intervals using a meta-analysis of genome-wide association studies identifies loci influencing personality dimensions.
22907731 2013 Association of KCNJ1 variation with change in fasting glucose and new onset diabetes during HCTZ treatment.
21631963 2011 DNA analysis of renal electrolyte transporter genes among patients suffering from Bartter and Gitelman syndromes: summary of mutation screening.
21355052 2011 Activation of PI3-kinase stimulates endocytosis of ROMK via Akt1/SGK1-dependent phosphorylation of WNK1.
21081491 2011 Tamm-Horsfall glycoprotein interacts with renal outer medullary potassium channel ROMK2 and regulates its function.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20424473 2010 L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20219833 2010 Long-term follow-up of patients with Bartter syndrome type I and II.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19710010 2009 POSH stimulates the ubiquitination and the clathrin-independent endocytosis of ROMK1 channels.
19706464 2009 Src family protein tyrosine kinase (PTK) modulates the effect of SGK1 and WNK4 on ROMK channels.
19349416 2009 Regulation of renal outer medullary potassium channel and renal K(+) excretion by Klotho.
19272129 2009 Structural changes in the cytoplasmic pore of the Kir1.1 channel during pHi-gating probed by FRET.
19244242 2009 Regulation of ROMK channel and K+ homeostasis by kidney-specific WNK1 kinase.
19170254 Moving the pH gate of the Kir1.1 inward rectifier channel.
19096086 2009 Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.
18755144 2008 The acidic motif of WNK4 is crucial for its interaction with the K channel ROMK.
18550644 2008 Domains of WNK1 kinase in the regulation of ROMK1.
18443236 2008 Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population.
18391953 2008 Rare independent mutations in renal salt handling genes contribute to blood pressure variation.
18211905 2008 Expression of tetraspan protein CD63 activates protein-tyrosine kinase (PTK) and enhances the PTK-induced inhibition of ROMK channels.
17401586 2007 A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism.
17380208 2007 Intersectin links WNK kinases to endocytosis of ROMK1.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16428287 2006 Antagonistic regulation of ROMK by long and kidney-specific WNK1 isoforms.
16382105 2005 International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels.
16357011 2006 WNK3, a kinase related to genes mutated in hereditary hypertension with hyperkalaemia, regulates the K+ channel ROMK1 (Kir1.1).
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15987778 2005 Phosphorylation-regulated endoplasmic reticulum retention signal in the renal outer-medullary K+ channel (ROMK).
15895241 2005 Expression of the potassium channel ROMK in adult and fetal human kidney.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14623317 2003 Molecular requirements for the regulation of the renal outer medullary K(+) channel ROMK1 by the serum- and glucocorticoid-inducible kinase SGK1.
14604981 2004 Assembly and trafficking of a multiprotein ROMK (Kir 1.1) channel complex by PDZ interactions.
12684516 2003 Cell surface expression of the ROMK (Kir 1.1) channel is regulated by the aldosterone-induced kinase, SGK-1, and protein kinase A.
12589089 2003 Heterozygous mutations of the gene for Kir 1.1 (ROMK) in antenatal Bartter syndrome presenting with transient hyperkalemia, evolving to a benign course.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12381810 2002 Molecular mechanism of a COOH-terminal gating determinant in the ROMK channel revealed by a Bartter's disease mutation.
12221079 2002 Protein kinase C (PKC)-induced phosphorylation of ROMK1 is essential for the surface expression of ROMK1 channels.
12086641 2002 Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies.
10889209 2000 Glycosylation of GIRK1 at Asn119 and ROMK1 at Asn117 has different consequences in potassium channel function.
9727001 1998 A hyperprostaglandin E syndrome mutation in Kir1.1 (renal outer medullary potassium) channels reveals a crucial residue for channel function in Kir1.3 channels.
9099852 1997 Nucleotide sequence analysis of the human KCNJ1 potassium channel locus.
9015377 1997 Mutations in the ROMK gene in antenatal Bartter syndrome are associated with impaired K+ channel function.
9002665 1997 Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes.
8841184 1996 Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK.
8621594 1996 Phosphorylation of the ATP-sensitive, inwardly rectifying K+ channel, ROMK, by cyclic AMP-dependent protein kinase.
8190102 1994 Alternative splicing of human inwardly rectifying K+ channel ROMK1 mRNA.
7929082 1994 Cloning and characterization of multiple forms of the human kidney ROM-K potassium channel.
7680431 1993 Cloning and expression of an inwardly rectifying ATP-regulated potassium channel.
7635463 1995 Isolation and chromosomal localization of a human ATP-regulated potassium channel.