KCNJ8

KCNJ8
Identifiers
Aliases	KCNJ8, KIR6.1, uKATP-1, potassium voltage-gated channel subfamily J member 8, potassium inwardly rectifying channel subfamily J member 8
External IDs	OMIM: 600935 MGI: 1100508 HomoloGene: 3654 GeneCards: KCNJ8
Gene location (Human)
Chr.	Chromosome 12 (human)[1]
End	21,775,600 bp[1]
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)[2]
End	142,571,614 bp[2]
RNA expression pattern
	; ;
	More reference expression data
Gene ontology
Molecular function	• voltage-gated ion channel activity; • ATP binding; • inward rectifier potassium channel activity; • voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization; • ATP-activated inward rectifier potassium channel activity; • sulfonylurea receptor binding;
Cellular component	• integral component of membrane; • membrane; • intracellular membrane-bounded organelle; • voltage-gated potassium channel complex; • cell membrane; • myofibril; • mitochondrion; • ATP-sensitive potassium channel complex; • sarcolemma;
Biological process	• response to exogenous dsRNA; • kidney development; • regulation of ion transmembrane transport; • ion transport; • heart development; • response to lipopolysaccharide; • defense response to virus; • potassium ion transport; • membrane repolarization during ventricular cardiac muscle cell action potential; • potassium ion import across plasma membrane; • potassium ion import; • ion transmembrane transport; • potassium ion transmembrane transport;
	Sources:Amigo / QuickGO
Orthologs
	3764
	16523
	ENSG00000121361
	ENSMUSG00000030247
	Q15842
	P97794
	NM_004982
	NM_008428; NM_001330363; NM_001330366
	NP_004973
	NP_001317292; NP_001317295; NP_032454
	Wikidata
View/Edit Human	View/Edit Mouse

Potassium inwardly-rectifying channel, subfamily J, member 8, also known as KCNJ8, is a human gene encoding the K_ir6.1 protein.[5] A mutation in KCNJ8 has been associated with cardiac arrest in the early repolarization syndrome.

Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. K_ir6.1 is an integral membrane protein and inward-rectifier type potassium channel. K_ir6.1, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins.[5]

References

GRCh38: Ensembl release 89: ENSG00000121361 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000030247 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Entrez Gene: KCNJ8 potassium inwardly-rectifying channel, subfamily J, member 8".

Kubo Y, Adelman JP, Clapham DE, et al. (2006). "International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels". Pharmacol. Rev. 57 (4): 509–526. doi:10.1124/pr.57.4.11. PMID 16382105.
Inagaki N, Tsuura Y, Namba N, et al. (1995). "Cloning and functional characterization of a novel ATP-sensitive potassium channel ubiquitously expressed in rat tissues, including pancreatic islets, pituitary, skeletal muscle, and heart". J. Biol. Chem. 270 (11): 5691–5694. doi:10.1074/jbc.270.11.5691. PMID 7890693.
Inagaki N, Inazawa J, Seino S (1996). "cDNA sequence, gene structure, and chromosomal localization of the human ATP-sensitive potassium channel, uKATP-1, gene (KCNJ8)". Genomics. 30 (1): 102–104. doi:10.1006/geno.1995.0018. PMID 8595887.
Suzuki M, Kotake K, Fujikura K, et al. (1998). "Kir6.1: a possible subunit of ATP-sensitive K+ channels in mitochondria". Biochem. Biophys. Res. Commun. 241 (3): 693–697. doi:10.1006/bbrc.1997.7891. PMID 9434770.
Erginel-Unaltuna N, Yang WP, Blanar MA (1998). "Genomic organization and expression of KCNJ8/Kir6.1, a gene encoding a subunit of an ATP-sensitive potassium channel". Gene. 211 (1): 71–78. doi:10.1016/S0378-1119(98)00086-9. PMID 9573340.
Surah-Narwal S, Xu SZ, McHugh D, et al. (1999). "Block of human aorta Kir6.1 by the vascular KATP channel inhibitor U37883A". Br. J. Pharmacol. 128 (3): 667–672. doi:10.1038/sj.bjp.0702862. PMC 1571700. PMID 10516647.
Tucker SJ, Ashcroft FM (1999). "Mapping of the physical interaction between the intracellular domains of an inwardly rectifying potassium channel, Kir6.2". J. Biol. Chem. 274 (47): 33393–33397. doi:10.1074/jbc.274.47.33393. PMID 10559219.
Kono Y, Horie M, Takano M, et al. (2001). "The properties of the Kir6.1-6.2 tandem channel co-expressed with SUR2A". Pflügers Arch. 440 (5): 692–698. doi:10.1007/s004240000315. PMID 11007308.
Cui Y, Giblin JP, Clapp LH, Tinker A (2001). "A mechanism for ATP-sensitive potassium channel diversity: Functional coassembly of two pore-forming subunits". Proc. Natl. Acad. Sci. U.S.A. 98 (2): 729–734. doi:10.1073/pnas.011370498. PMC 14656. PMID 11136227.
Liu Y, Ren G, O'Rourke B, et al. (2001). "Pharmacological comparison of native mitochondrial K(ATP) channels with molecularly defined surface K(ATP) channels". Mol. Pharmacol. 59 (2): 225–30. doi:10.1124/mol.59.2.225. PMID 11160857.
Giblin JP, Cui Y, Clapp LH, Tinker A (2002). "Assembly limits the pharmacological complexity of ATP-sensitive potassium channels". J. Biol. Chem. 277 (16): 13717–13723. doi:10.1074/jbc.M112209200. PMID 11825905.
Vanoye CG, MacGregor GG, Dong K, et al. (2002). "The carboxyl termini of K(ATP) channels bind nucleotides". J. Biol. Chem. 277 (26): 23260–23270. doi:10.1074/jbc.M112004200. PMID 11956191.
Miki T, Suzuki M, Shibasaki T, et al. (2002). "Mouse model of Prinzmetal angina by disruption of the inward rectifier Kir6.1". Nat. Med. 8 (5): 466–472. doi:10.1038/nm0502-466. PMID 11984590.
Nakamura K, Hirano J, Itazawa S, Kubokawa M (2002). "Protein kinase G activates inwardly rectifying K(+) channel in cultured human proximal tubule cells". Am. J. Physiol. Renal Physiol. 283 (4): F784–91. doi:10.1152/ajprenal.00023.2002. PMID 12217870.
Curley M, Cairns MT, Friel AM, et al. (2003). "Expression of mRNA transcripts for ATP-sensitive potassium channels in human myometrium". Mol. Hum. Reprod. 8 (10): 941–945. doi:10.1093/molehr/8.10.941. PMID 12356945.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–16903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Singh H, Hudman D, Lawrence CL, et al. (2004). "Distribution of Kir6.0 and SUR2 ATP-sensitive potassium channel subunits in isolated ventricular myocytes". J. Mol. Cell. Cardiol. 35 (5): 445–459. doi:10.1016/S0022-2828(03)00041-5. hdl:2381/14. PMID 12738227.
Insuk SO, Chae MR, Choi JW, et al. (2003). "Molecular basis and characteristics of KATP channel in human corporal smooth muscle cells". Int. J. Impot. Res. 15 (4): 258–266. doi:10.1038/sj.ijir.3901013. PMID 12934053.
Emanuele E, Falcone C, Carabela M, et al. (2004). "Absence of Kir6.1/KCNJ8 mutations in Italian patients with abnormal coronary vasomotion". Int. J. Mol. Med. 12 (4): 509–12. doi:10.3892/ijmm.12.4.509. PMID 12964027.
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): 2121–2127. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.

External links

KCNJ8+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000121361 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000030247 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: KCNJ8 potassium inwardly-rectifying channel, subfamily J, member 8".

KCNJ8

See also

References

Further reading

External links