KCNJ8

Protein-coding gene in humans
KCNJ8
Identifiers
AliasesKCNJ8, KIR6.1, uKATP-1, potassium voltage-gated channel subfamily J member 8, potassium inwardly rectifying channel subfamily J member 8
External IDsOMIM: 600935 MGI: 1100508 HomoloGene: 3654 GeneCards: KCNJ8
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for KCNJ8
Genomic location for KCNJ8
Band12p12.1Start21,764,955 bp[1]
End21,775,600 bp[1]
Gene location (Mouse)
Chromosome 6 (mouse)
Chr.Chromosome 6 (mouse)[2]
Chromosome 6 (mouse)
Genomic location for KCNJ8
Genomic location for KCNJ8
Band6 G2|6 74.31 cMStart142,510,563 bp[2]
End142,517,340 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right ventricle

  • body of pancreas

  • right lobe of liver

  • gastric mucosa

  • pericardium

  • subcutaneous adipose tissue

  • visceral pleura

  • parietal pleura

  • popliteal artery

  • right lung
Top expressed in
  • internal carotid artery

  • ascending aorta

  • molar

  • aortic valve

  • myocardium of ventricle

  • digastric muscle

  • cardiac muscles

  • external carotid artery

  • interventricular septum

  • soleus muscle
More reference expression data
BioGPS


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
  • plasma membrane
  • myofibril
  • mitochondrion
  • inward rectifying potassium channel
  • 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
  • ion transmembrane transport
  • potassium ion transmembrane transport
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

3764

16523

Ensembl

ENSG00000121361

ENSMUSG00000030247

UniProt

Q15842

P97794

RefSeq (mRNA)

NM_004982

NM_008428
NM_001330363
NM_001330366

RefSeq (protein)

NP_004973

NP_001317292
NP_001317295
NP_032454

Location (UCSC)Chr 12: 21.76 – 21.78 MbChr 6: 142.51 – 142.52 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Potassium inwardly-rectifying channel, subfamily J, member 8, also known as KCNJ8, is a human gene encoding the Kir6.1 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. Kir6.1 is an integral membrane protein and inward-rectifier type potassium channel. Kir6.1, 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]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000121361 – Ensembl, May 2017
  2. ^ a b c 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.
  5. ^ a b "Entrez Gene: KCNJ8 potassium inwardly-rectifying channel, subfamily J, member 8".

Further reading

  • Kubo Y, Adelman JP, Clapham DE, Jan LY, Karschin A, Kurachi Y, 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. S2CID 11588492.
  • Inagaki N, Tsuura Y, Namba N, Masuda K, Gonoi T, Horie M, 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, Inagaki N, Suzuki T, Gonoi T, 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, McDonald RL, Hough E, Cheong A, 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, Otani H, Xie LH, Akao 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. S2CID 31022216.
  • 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, Marbán E, Seharaseyon J (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, Tang L, Buschmann AS, Hall AE, 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, Uemura H, Sato T, Yamaguchi K, 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. S2CID 32502965.
  • 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. S2CID 6960591.
  • Curley M, Cairns MT, Friel AM, McMeel OM, Morrison JJ, Smith TJ (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. hdl:10379/9031. PMID 12356945.
  • Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Singh H, Hudman D, Lawrence CL, Rainbow RD, Lodwick D, Norman RI (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, Yang DK, Sim JH, Lee SW (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, Minoretti P, d'Angelo A, Montagna L, 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, Shenmen CM, Grouse LH, Schuler G, 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

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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Ligand-gated
Voltage-gated
Constitutively active
Proton-gated
Voltage-gated
Calcium-activated
Inward-rectifier
Tandem pore domain
Voltage-gated
Miscellaneous
Cl−: Chloride channel
H+: Proton channel
M+: CNG cation channel
M+: TRP cation channel
H2O (+ solutes): Porin
Cytoplasm: Gap junction
By gating mechanism
Ion channel class
see also disorders
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