KCNE3
From Wikipedia, the free encyclopedia
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Potassium voltage-gated channel, Isk-related family, member 3
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| Identifiers | ||||||||||||||
| Symbol(s) | KCNE3; HOKPP; DKFZp781H21101; MGC102685; MGC129924; MiRP2 | |||||||||||||
| External IDs | OMIM: 604433 MGI: 1891124 HomoloGene: 3994 | |||||||||||||
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| RNA expression pattern | ||||||||||||||
| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 10008 | 57442 | ||||||||||||
| Ensembl | ENSG00000175538 | ENSMUSG00000035165 | ||||||||||||
| Uniprot | Q9Y6H6 | Q545H9 | ||||||||||||
| Refseq | NM_005472 (mRNA) NP_005463 (protein) |
XM_974792 (mRNA) XP_979886 (protein) |
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| Location | Chr 11: 73.84 - 73.86 Mb | Chr 7: 100.05 - 100.06 Mb | ||||||||||||
| Pubmed search | [1] | [2] | ||||||||||||
Potassium voltage-gated channel, Isk-related family, member 3, also known as KCNE3, is a human gene.[1]
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the kidney. A missense mutation in this gene is associated with hypokalemic periodic paralysis.[1]
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[edit] See also
[edit] References
[edit] Further reading
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. PMID 8889548.
- Abbott GW, Sesti F, Splawski I, et al. (1999). "MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia.". Cell 97 (2): 175–87. PMID 10219239.
- Schroeder BC, Waldegger S, Fehr S, et al. (2000). "A constitutively open potassium channel formed by KCNQ1 and KCNE3.". Nature 403 (6766): 196–9. doi:. PMID 10646604.
- Melman YF, Domènech A, de la Luna S, McDonald TV (2001). "Structural determinants of KvLQT1 control by the KCNE family of proteins.". J. Biol. Chem. 276 (9): 6439–44. doi:. PMID 11104781.
- Abbott GW, Butler MH, Bendahhou S, et al. (2001). "MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis.". Cell 104 (2): 217–31. PMID 11207363.
- Dedek K, Waldegger S (2002). "Colocalization of KCNQ1/KCNE channel subunits in the mouse gastrointestinal tract.". Pflugers Arch. 442 (6): 896–902. PMID 11680623.
- Abbott GW, Goldstein SA (2002). "Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism.". FASEB J. 16 (3): 390–400. doi:. PMID 11874988.
- Mazhari R, Nuss HB, Armoundas AA, et al. (2002). "Ectopic expression of KCNE3 accelerates cardiac repolarization and abbreviates the QT interval.". J. Clin. Invest. 109 (8): 1083–90. PMID 11956246.
- Dias Da Silva MR, Cerutti JM, Arnaldi LA, Maciel RM (2002). "A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis.". J. Clin. Endocrinol. Metab. 87 (11): 4881–4. PMID 12414843.
- 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): 16899–903. doi:. PMID 12477932.
- Jurkat-Rott K, Lehmann-Horn F (2004). "Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation.". Neurology 62 (6): 1012–5. PMID 15037716.
- 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:. PMID 15489334.
- Lundquist AL, Turner CL, Ballester LY, George AL (2006). "Expression and transcriptional control of human KCNE genes.". Genomics 87 (1): 119–28. doi:. PMID 16303284.
- Panaghie G, Tai KK, Abbott GW (2006). "Interaction of KCNE subunits with the KCNQ1 K+ channel pore.". J. Physiol. (Lond.) 570 (Pt 3): 455–67. doi:. PMID 16308347.
- Oh JH, Yang JO, Hahn Y, et al. (2006). "Transcriptome analysis of human gastric cancer.". Mamm. Genome 16 (12): 942–54. doi:. PMID 16341674.
- Doi K, Sato T, Kuramasu T, et al. (2006). "Ménière's disease is associated with single nucleotide polymorphisms in the human potassium channel genes, KCNE1 and KCNE3.". ORL J. Otorhinolaryngol. Relat. Spec. 67 (5): 289–93. doi:. PMID 16374062.
- Abbott GW, Butler MH, Goldstein SA (2006). "Phosphorylation and protonation of neighboring MiRP2 sites: function and pathophysiology of MiRP2-Kv3.4 potassium channels in periodic paralysis.". FASEB J. 20 (2): 293–301. doi:. PMID 16449802.
- Lundby A, Olesen SP (2006). "KCNE3 is an inhibitory subunit of the Kv4.3 potassium channel.". Biochem. Biophys. Res. Commun. 346 (3): 958–67. doi:. PMID 16782062.
- Pannaccione A, Boscia F, Scorziello A, et al. (2007). "Up-regulation and increased activity of KV3.4 channels and their accessory subunit MinK-related peptide 2 induced by amyloid peptide are involved in apoptotic neuronal death.". Mol. Pharmacol. 72 (3): 665–73. doi:. PMID 17495071.
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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