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{{PBB|geneid=3758}}
{{protein
|Name=potassium inwardly-rectifying channel, subfamily J, member 1
|caption=
|image=
|width=
|HGNCid=6255
|Symbol=KCNJ1
|AltSymbols=
|EntrezGene=3758
|OMIM=600359
|RefSeq=NM_000220
|UniProt=P48048
|PDB=
|ECnumber=
|Chromosome=11
|Arm=q
|Band=24
|LocusSupplementaryData=
}}
'''ROMK''' is an acronym for the Renal Outer Medullary Potassium channel. This is an ATP-dependent [[potassium channel]] (K<sub>ir</sub>1.1) that transports potassium out of cells.


'''ROMK''' is an acronym for the Renal Outer Medullary Potassium channel. This is an ATP-dependent [[potassium channel]] (K<sub>ir</sub>1.1) that transports potassium out of cells. It plays an important role in potassium recycling in the [[thick ascending limb]] (TAL) and potassium [[secretion]] in the [[cortical collecting duct]] (CCD) of the [[nephron]]. In humans, ROMK is encoded by the '''''KCNJ1''''' ('''potassium inwardly-rectifying channel, subfamily J, member 1''') [[gene]].<ref name="pmid7680431">{{cite journal | author = Ho K, Nichols CG, Lederer WJ, Lytton J, Vassilev PM, Kanazirska MV, Hebert SC | title = Cloning and expression of an inwardly rectifying ATP-regulated potassium channel | journal = Nature | volume = 362 | issue = 6415 | pages = 31–8 | year = 1993 | month = March | pmid = 7680431 | doi = 10.1038/362031a0 | url = }}</ref><ref name="pmid8190102">{{cite journal | author = Yano H, Philipson LH, Kugler JL, Tokuyama Y, Davis EM, Le Beau MM, Nelson DJ, Bell GI, Takeda J | title = Alternative splicing of human inwardly rectifying K+ channel ROMK1 mRNA | journal = Mol. Pharmacol. | volume = 45 | issue = 5 | pages = 854–60 | year = 1994 | month = May | pmid = 8190102 | doi = | url = }}</ref><ref name="pmid16382105">{{cite journal | author = Kubo Y, Adelman JP, Clapham DE, Jan LY, Karschin A, Kurachi Y, Lazdunski M, Nichols CG, Seino S, Vandenberg CA | title = International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels | journal = Pharmacol. Rev. | volume = 57 | issue = 4 | pages = 509–26 | year = 2005 | month = December | pmid = 16382105 | doi = 10.1124/pr.57.4.11 | url = }}</ref> Multiple transcript variants encoding different isoforms have been found for this gene.<ref name="entrez"/>
It plays an important role in potassium recycling in the [[thick ascending limb]] (TAL) and potassium [[secretion]] in the [[cortical collecting duct]] (CCD) of the [[nephron]].

== Function ==

[[Potassium channel]]s are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and [[inward-rectifier potassium ion channel|inward-rectifier]] type potassium channel. It is activated by internal [[adenosine triphosphate|ATP]] and probably plays an important role in potassium homeostasis. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell.<ref name="entrez">{{cite web | title = Entrez Gene: potassium inwardly-rectifying channel| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3758| accessdate = }}</ref>

== Clinical significance ==

Mutations in this gene have been associated with antenatal [[Bartter syndrome]], which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria, and low blood pressure.<ref name="entrez"/>

== References ==
{{Reflist}}

==Further reading==
{{refbegin | 2}}
*{{cite journal |author=O'Connell AD, Leng Q, Dong K, ''et al.'' |title=Phosphorylation-regulated endoplasmic reticulum retention signal in the renal outer-medullary K+ channel (ROMK). |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=102 |issue= 28 |pages= 9954-9 |year= 2005 |pmid= 15987778 |doi= 10.1073/pnas.0504332102 }}
*{{cite journal |author=Kubo Y, Adelman JP, Clapham DE, ''et al.'' |title=International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels. |journal=Pharmacol. Rev. |volume=57 |issue= 4 |pages= 509-26 |year= 2005 |pmid= 16382105 |doi= 10.1124/pr.57.4.11 }}
*{{cite journal |author=Brochard K, Boyer O, Blanchard A, ''et al.'' |title=Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome. |journal=Nephrol. Dial. Transplant. |volume=24 |issue= 5 |pages= 1455-64 |year= 2009 |pmid= 19096086 |doi= 10.1093/ndt/gfn689 }}
*{{cite journal |author=Lee JR, Shieh RC |title=Structural changes in the cytoplasmic pore of the Kir1.1 channel during pHi-gating probed by FRET. |journal=J. Biomed. Sci. |volume=16 |issue= |pages= 29 |year= 2009 |pmid= 19272129 |doi= 10.1186/1423-0127-16-29 }}
*{{cite journal |author=Nüsing RM, Pantalone F, Gröne HJ, ''et al.'' |title=Expression of the potassium channel ROMK in adult and fetal human kidney. |journal=Histochem. Cell Biol. |volume=123 |issue= 6 |pages= 553-9 |year= 2005 |pmid= 15895241 |doi= 10.1007/s00418-004-0742-5 }}
*{{cite journal |author=Cho JT, Guay-Woodford LM |title=Heterozygous mutations of the gene for Kir 1.1 (ROMK) in antenatal Bartter syndrome presenting with transient hyperkalemia, evolving to a benign course. |journal=J. Korean Med. Sci. |volume=18 |issue= 1 |pages= 65-8 |year= 2003 |pmid= 12589089 |doi= }}
*{{cite journal |author=Ji W, Foo JN, O'Roak BJ, ''et al.'' |title=Rare independent mutations in renal salt handling genes contribute to blood pressure variation. |journal=Nat. Genet. |volume=40 |issue= 5 |pages= 592-9 |year= 2008 |pmid= 18391953 |doi= 10.1038/ng.118 }}
*{{cite journal |author=Nozu K, Fu XJ, Kaito H, ''et al.'' |title=A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism. |journal=Pediatr. Nephrol. |volume=22 |issue= 8 |pages= 1219-23 |year= 2007 |pmid= 17401586 |doi= 10.1007/s00467-007-0468-4 }}
*{{cite journal |author=Lin D, Kamsteeg EJ, Zhang Y, ''et al.'' |title=Expression of tetraspan protein CD63 activates protein-tyrosine kinase (PTK) and enhances the PTK-induced inhibition of ROMK channels. |journal=J. Biol. Chem. |volume=283 |issue= 12 |pages= 7674-81 |year= 2008 |pmid= 18211905 |doi= 10.1074/jbc.M705574200 }}
*{{cite journal |author=Wang HR, Liu Z, Huang CL |title=Domains of WNK1 kinase in the regulation of ROMK1. |journal=Am. J. Physiol. Renal Physiol. |volume=295 |issue= 2 |pages= F438-45 |year= 2008 |pmid= 18550644 |doi= 10.1152/ajprenal.90287.2008 }}
*{{cite journal |author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal |author=Yoo D, Kim BY, Campo C, ''et al.'' |title=Cell surface expression of the ROMK (Kir 1.1) channel is regulated by the aldosterone-induced kinase, SGK-1, and protein kinase A. |journal=J. Biol. Chem. |volume=278 |issue= 25 |pages= 23066-75 |year= 2003 |pmid= 12684516 |doi= 10.1074/jbc.M212301200 }}
*{{cite journal |author=Cha SK, Hu MC, Kurosu H, ''et al.'' |title=Regulation of renal outer medullary potassium channel and renal K(+) excretion by Klotho. |journal=Mol. Pharmacol. |volume=76 |issue= 1 |pages= 38-46 |year= 2009 |pmid= 19349416 |doi= 10.1124/mol.109.055780 }}
*{{cite journal |author=Nanazashvili M, Li H, Palmer LG, ''et al.'' |title=Moving the pH gate of the Kir1.1 inward rectifier channel. |journal=Channels (Austin) |volume=1 |issue= 1 |pages= 21-8 |year= |pmid= 19170254 |doi= }}
*{{cite journal |author=Liu Z, Wang HR, Huang CL |title=Regulation of ROMK channel and K+ homeostasis by kidney-specific WNK1 kinase. |journal=J. Biol. Chem. |volume=284 |issue= 18 |pages= 12198-206 |year= 2009 |pmid= 19244242 |doi= 10.1074/jbc.M806551200 }}
*{{cite journal |author=Yoo D, Flagg TP, Olsen O, ''et al.'' |title=Assembly and trafficking of a multiprotein ROMK (Kir 1.1) channel complex by PDZ interactions. |journal=J. Biol. Chem. |volume=279 |issue= 8 |pages= 6863-73 |year= 2004 |pmid= 14604981 |doi= 10.1074/jbc.M311599200 }}
*{{cite journal |author=Tobin MD, Tomaszewski M, Braund PS, ''et al.'' |title=Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population. |journal=Hypertension |volume=51 |issue= 6 |pages= 1658-64 |year= 2008 |pmid= 18443236 |doi= 10.1161/HYPERTENSIONAHA.108.112664 }}
*{{cite journal |author=He G, Wang HR, Huang SK, Huang CL |title=Intersectin links WNK kinases to endocytosis of ROMK1. |journal=J. Clin. Invest. |volume=117 |issue= 4 |pages= 1078-87 |year= 2007 |pmid= 17380208 |doi= 10.1172/JCI30087 }}
*{{cite journal |author=Murthy M, Cope G, O'Shaughnessy KM |title=The acidic motif of WNK4 is crucial for its interaction with the K channel ROMK. |journal=Biochem. Biophys. Res. Commun. |volume=375 |issue= 4 |pages= 651-4 |year= 2008 |pmid= 18755144 |doi= 10.1016/j.bbrc.2008.08.076 }}
*{{cite journal |author=Lazrak A, Liu Z, Huang CL |title=Antagonistic regulation of ROMK by long and kidney-specific WNK1 isoforms. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=103 |issue= 5 |pages= 1615-20 |year= 2006 |pmid= 16428287 |doi= 10.1073/pnas.0510609103 }}
{{refend}}


==External links==
==External links==
*{{cite web | url = http://www.iuphar-db.org/IC/ObjectDisplayForward?familyId=17&objectId=115| title = Inwardly Recifying Potassium Channels: K<sub>ir</sub>1.1 | accessdate = | author = | authorlink = | coauthors = | date = | format = | work = IUPHAR Database of Receptors and Ion Channels | publisher = International Union of Basic and Clinical Pharmacology | pages = | language = | archiveurl = | archivedate = | quote = }}
⚫
* [http://www.ndif.org/Terms/ROMK.html NDI terminology page]
* {{MeshName|ROMK1+protein,+human}}
* {{MeshName|ROMK1+protein,+human}}
⚫
* [http://www.ndif.org/Terms/ROMK.html NDI terminology page]


{{NLM content}}
{{membrane-protein-stub}}
{{membrane-protein-stub}}
{{Ion channels}}
{{Ion channels|g3}}
[[Category:Ion channels]]
[[Category:Ion channels]]


Revision as of 18:27, 15 September 2009

Template:PBB

ROMK is an acronym for the Renal Outer Medullary Potassium channel. This is an ATP-dependent potassium channel (Kir1.1) that transports potassium out of cells. It plays an important role in potassium recycling in the thick ascending limb (TAL) and potassium secretion in the cortical collecting duct (CCD) of the nephron. In humans, ROMK is encoded by the KCNJ1 (potassium inwardly-rectifying channel, subfamily J, member 1) gene.[1][2][3] Multiple transcript variants encoding different isoforms have been found for this gene.[4]

Function

Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. It is activated by internal ATP and probably plays an important role in potassium homeostasis. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell.[4]

Clinical significance

Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria, and low blood pressure.[4]

References

  1. ^ Ho K, Nichols CG, Lederer WJ, Lytton J, Vassilev PM, Kanazirska MV, Hebert SC (1993). "Cloning and expression of an inwardly rectifying ATP-regulated potassium channel". Nature. 362 (6415): 31–8. doi:10.1038/362031a0. PMID 7680431. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  2. ^ Yano H, Philipson LH, Kugler JL, Tokuyama Y, Davis EM, Le Beau MM, Nelson DJ, Bell GI, Takeda J (1994). "Alternative splicing of human inwardly rectifying K+ channel ROMK1 mRNA". Mol. Pharmacol. 45 (5): 854–60. PMID 8190102. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  3. ^ Kubo Y, Adelman JP, Clapham DE, Jan LY, Karschin A, Kurachi Y, Lazdunski M, Nichols CG, Seino S, Vandenberg CA (2005). "International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels". Pharmacol. Rev. 57 (4): 509–26. doi:10.1124/pr.57.4.11. PMID 16382105. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  4. ^ a b c "Entrez Gene: potassium inwardly-rectifying channel".

Further reading

  • O'Connell AD, Leng Q, Dong K; et al. (2005). "Phosphorylation-regulated endoplasmic reticulum retention signal in the renal outer-medullary K+ channel (ROMK)". Proc. Natl. Acad. Sci. U.S.A. 102 (28): 9954–9. doi:10.1073/pnas.0504332102. PMID 15987778. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • Kubo Y, Adelman JP, Clapham DE; et al. (2005). "International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels". Pharmacol. Rev. 57 (4): 509–26. doi:10.1124/pr.57.4.11. PMID 16382105. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • Brochard K, Boyer O, Blanchard A; et al. (2009). "Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome". Nephrol. Dial. Transplant. 24 (5): 1455–64. doi:10.1093/ndt/gfn689. PMID 19096086. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • Lee JR, Shieh RC (2009). "Structural changes in the cytoplasmic pore of the Kir1.1 channel during pHi-gating probed by FRET". J. Biomed. Sci. 16: 29. doi:10.1186/1423-0127-16-29. PMID 19272129.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  • Nüsing RM, Pantalone F, Gröne HJ; et al. (2005). "Expression of the potassium channel ROMK in adult and fetal human kidney". Histochem. Cell Biol. 123 (6): 553–9. doi:10.1007/s00418-004-0742-5. PMID 15895241. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • Cho JT, Guay-Woodford LM (2003). "Heterozygous mutations of the gene for Kir 1.1 (ROMK) in antenatal Bartter syndrome presenting with transient hyperkalemia, evolving to a benign course". J. Korean Med. Sci. 18 (1): 65–8. PMID 12589089.
  • Ji W, Foo JN, O'Roak BJ; et al. (2008). "Rare independent mutations in renal salt handling genes contribute to blood pressure variation". Nat. Genet. 40 (5): 592–9. doi:10.1038/ng.118. PMID 18391953. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • Nozu K, Fu XJ, Kaito H; et al. (2007). "A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism". Pediatr. Nephrol. 22 (8): 1219–23. doi:10.1007/s00467-007-0468-4. PMID 17401586. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • Lin D, Kamsteeg EJ, Zhang Y; et al. (2008). "Expression of tetraspan protein CD63 activates protein-tyrosine kinase (PTK) and enhances the PTK-induced inhibition of ROMK channels". J. Biol. Chem. 283 (12): 7674–81. doi:10.1074/jbc.M705574200. PMID 18211905. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link)
  • Wang HR, Liu Z, Huang CL (2008). "Domains of WNK1 kinase in the regulation of ROMK1". Am. J. Physiol. Renal Physiol. 295 (2): F438-45. doi:10.1152/ajprenal.90287.2008. PMID 18550644.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  • Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • Yoo D, Kim BY, Campo C; et al. (2003). "Cell surface expression of the ROMK (Kir 1.1) channel is regulated by the aldosterone-induced kinase, SGK-1, and protein kinase A.". J. Biol. Chem. 278 (25): 23066–75. doi:10.1074/jbc.M212301200. PMID 12684516. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link)
  • Cha SK, Hu MC, Kurosu H; et al. (2009). "Regulation of renal outer medullary potassium channel and renal K(+) excretion by Klotho". Mol. Pharmacol. 76 (1): 38–46. doi:10.1124/mol.109.055780. PMID 19349416. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • Nanazashvili M, Li H, Palmer LG; et al. "Moving the pH gate of the Kir1.1 inward rectifier channel". Channels (Austin). 1 (1): 21–8. PMID 19170254. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • Liu Z, Wang HR, Huang CL (2009). "Regulation of ROMK channel and K+ homeostasis by kidney-specific WNK1 kinase". J. Biol. Chem. 284 (18): 12198–206. doi:10.1074/jbc.M806551200. PMID 19244242.{{cite journal}}: CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link)
  • Yoo D, Flagg TP, Olsen O; et al. (2004). "Assembly and trafficking of a multiprotein ROMK (Kir 1.1) channel complex by PDZ interactions". J. Biol. Chem. 279 (8): 6863–73. doi:10.1074/jbc.M311599200. PMID 14604981. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link)
  • Tobin MD, Tomaszewski M, Braund PS; et al. (2008). "Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population". Hypertension. 51 (6): 1658–64. doi:10.1161/HYPERTENSIONAHA.108.112664. PMID 18443236. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • He G, Wang HR, Huang SK, Huang CL (2007). "Intersectin links WNK kinases to endocytosis of ROMK1". J. Clin. Invest. 117 (4): 1078–87. doi:10.1172/JCI30087. PMID 17380208.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  • Murthy M, Cope G, O'Shaughnessy KM (2008). "The acidic motif of WNK4 is crucial for its interaction with the K channel ROMK". Biochem. Biophys. Res. Commun. 375 (4): 651–4. doi:10.1016/j.bbrc.2008.08.076. PMID 18755144.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  • Lazrak A, Liu Z, Huang CL (2006). "Antagonistic regulation of ROMK by long and kidney-specific WNK1 isoforms". Proc. Natl. Acad. Sci. U.S.A. 103 (5): 1615–20. doi:10.1073/pnas.0510609103. PMID 16428287.{{cite journal}}: CS1 maint: multiple names: authors list (link)

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