Lin D., Sterling H., Lerea K.M., Giebisch G., Wang W.H.

J. Biol. Chem. 277:44278-44284(2002) GeneRIF 3758 · Mapped (2)
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 GeneRIF 3758

Flagg T.P., Yoo D., Sciortino C.M., Tate M., Romero M.F., Welling P.A.

J. Physiol. (Lond.) 544:351-362(2002) GeneRIF 3758 · Mapped (2)
One disease-causing mutation in the ROMK channel truncates the extreme COOH-terminus and induces a closed gating conformation. GeneRIF 3758

Cho J.T., Guay-Woodford L.M.

J. Korean Med. Sci. 18:65-68(2003) GeneRIF 3758 · Mapped (4)
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. GeneRIF 3758

Nusing R.M., Pantalone F., Grone H.J., Seyberth H.W., Wegmann M.

Histochem. Cell Biol. 123:553-559(2005) GeneRIF 3758 · Mapped (2)
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. GeneRIF 3758

O'Connell A.D., Leng Q., Dong K., MacGregor G.G., Giebisch G., Hebert S.C.

Proc. Natl. Acad. Sci. U.S.A. 102:9954-9959(2005) GeneRIF 3758 · Mapped (2)
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. GeneRIF 3758

Lazrak A., Liu Z., Huang C.L.

Proc. Natl. Acad. Sci. U.S.A. 103:1615-1620(2006) GeneRIF 3758 · Mapped (11)
ROMK is antagonistically regulated by long and kidney-specific WNK1 isoforms GeneRIF 3758

He G., Wang H.R., Huang S.K., Huang C.L.

J. Clin. Invest. 117:1078-1087(2007) GeneRIF 3758 · Mapped (9)
molecular mechanism for stimulation of endocytosis of ROMK1 by WNK kinases GeneRIF 3758

Nozu K., Fu X.J., Kaito H., Kanda K., Yokoyama N., Przybyslaw Krol R., Nakajima T., Kajiyama M., Iijima K., Matsuo M.

Pediatr. Nephrol. 22:1219-1223(2007) GeneRIF 3758 · Mapped (2)
A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism. GeneRIF 3758

Lin D., Kamsteeg E.J., Zhang Y., Jin Y., Sterling H., Yue P., Roos M., Duffield A., Spencer J., Caplan M. et al.

J. Biol. Chem. 283:7674-7681(2008) GeneRIF 3758 · Mapped (18)
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. GeneRIF 3758

Ji W., Foo J.N., O'Roak B.J., Zhao H., Larson M.G., Simon D.B., Newton-Cheh C., State M.W., Levy D., Lifton R.P.

Nat. Genet. 40:592-599(2008) GeneRIF 3758 · Mapped (12)
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; Observational study of gene-disease association. (HuGE Navigator) GeneRIF 3758

Tobin M.D., Tomaszewski M., Braund P.S., Hajat C., Raleigh S.M., Palmer T.M., Caulfield M., Burton P.R., Samani N.J.

Hypertension 51:1658-1664(2008) GeneRIF 3758 · Mapped (28)
Five polymorphisms in the KCNJ1 gene coding for the potassium channel ROMK showed associations with mean 24-hour systolic or diastolic blood pressure; Observational study of gene-disease association. (HuGE Navigator) GeneRIF 3758

Wang H.R., Liu Z., Huang C.L.

Am. J. Physiol. Renal Physiol. 295:F438-45(2008) GeneRIF 3758 · Mapped (9)
Multiple intra- and/or intermolecular interactions of WNK1 domains are at play for regulation of ROMK1 by WNK1 in the kidney. GeneRIF 3758

Murthy M., Cope G., O'Shaughnessy K.M.

Biochem. Biophys. Res. Commun. 375:651-654(2008) GeneRIF 3758 · Mapped (5)
These results confirm the important role of the acidic motif of WNK4 in its protein-protein interaction with the ROMK channel. GeneRIF 3758

Brochard K., Boyer O., Blanchard A., Loirat C., Niaudet P., Macher M.A., Deschenes G., Bensman A., Decramer S., Cochat P. et al.

Nephrol. Dial. Transplant. 24:1455-1464(2009) GeneRIF 3758 · Mapped (16)
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. GeneRIF 3758

Nanazashvili M., Li H., Palmer L.G., Walters D.E., Sackin H.

Channels (Austin) 1:21-28(2007) GeneRIF 3758 · Mapped (2)
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. GeneRIF 3758

Liu Z., Wang H.R., Huang C.L.

J. Biol. Chem. 284:12198-12206(2009) GeneRIF 3758 · Mapped (27)
KS-WNK1 is an important physiological regulator of renal K(+) excretion likely through its effects on the ROMK1 channel. GeneRIF 3758

Lee J.R., Shieh R.C.

J. Biomed. Sci. 16:29-29(2009) GeneRIF 3758 · Mapped (2)
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. GeneRIF 3758

Cha S.K., Hu M.C., Kurosu H., Kuro-o M., Moe O., Huang C.L.

Mol. Pharmacol. 76:38-46(2009) GeneRIF 3758 · Mapped (2)
Regulation of renal outer medullary potassium channel and renal K(+) excretion by Klotho. GeneRIF 3758

Yue P., Lin D.H., Pan C.Y., Leng Q., Giebisch G., Lifton R.P., Wang W.H.

Proc. Natl. Acad. Sci. U.S.A. 106:15061-15066(2009) GeneRIF 3758 · Mapped (10)
c-Src inhibits SGK1-mediated phosphorylation hereby restoring the WNK4-mediated inhibition of ROMK channels thus suppressing K secretion. GeneRIF 3758

Lin D.H., Yue P., Pan C.Y., Sun P., Zhang X., Han Z., Roos M., Caplan M., Giebisch G., Wang W.H.

J. Biol. Chem. 284:29614-29624(2009) GeneRIF 3758 · UniProtKB (1) · Mapped (2)
POSH inhibits ROMK channels by enhancing dynamin-dependent and clathrin-independent endocytosis and by stimulating ubiquitination of ROMK channels. GeneRIF 3758

BRIGHT Consortium
Talmud P.J., Drenos F., Shah S., Shah T., Palmen J., Verzilli C., Gaunt T.R., Pallas J., Lovering R., Li K. et al.

Am. J. Hum. Genet. 85:628-642(2009) GeneRIF 3758 · Mapped (10,092)
Observational study of gene-disease association. (HuGE Navigator) GeneRIF 3758

Puricelli E., Bettinelli A., Borsa N., Sironi F., Mattiello C., Tammaro F., Tedeschi S., Bianchetti M.G.

Nephrol. Dial. Transplant. 25:2976-2981(2010) GeneRIF 3758 · Mapped (11)
KCNJ1 mutations are associated with Bartter syndrome. GeneRIF 3758

Rose J.E., Behm F.M., Drgon T., Johnson C., Uhl G.R.

Mol. Med. 16:247-253(2010) GeneRIF 3758 · Mapped (10,283)
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) GeneRIF 3758

Yokoyama K., Urashima M., Ohkido I., Kono T., Yoshida T., Muramatsu M., Niu T., Hosoya T.

Nephron Clin Pract 115:c237-43(2010) GeneRIF 3758 · Mapped (557)
Observational study of gene-disease association. (HuGE Navigator) GeneRIF 3758

Renigunta A., Renigunta V., Saritas T., Decher N., Mutig K., Waldegger S.

J. Biol. Chem. 286:2224-2235(2011) GeneRIF 3758 · Mapped (8)
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. GeneRIF 3758