KCNE3
From Wikipedia, the free encyclopedia
| Potassium voltage-gated channel, Isk-related family, member 3 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | KCNE3; HOKPP; HYPP; MiRP2 | ||||||||||||
| External IDs | OMIM: 604433 MGI: 1891124 HomoloGene: 3994 GeneCards: KCNE3 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 10008 | 57442 | |||||||||||
| Ensembl | ENSG00000175538 | ENSMUSG00000035165 | |||||||||||
| UniProt | Q9Y6H6 | Q9WTW2 | |||||||||||
| RefSeq (mRNA) | NM_005472 | NM_001190869 | |||||||||||
| RefSeq (protein) | NP_005463 | NP_001177798 | |||||||||||
| Location (UCSC) | Chr 11: 74.17 – 74.18 Mb | Chr 7: 100.18 – 100.18 Mb | |||||||||||
| PubMed search | |||||||||||||
Potassium voltage-gated channel, Isk-related family, member 3, also known as KCNE3, is a protein that in humans is encoded by the KCNE3 gene.[1][2]
Function
Voltage-gated potassium channels (Kv) 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. Mutations in this gene are associated with hypokalemic periodic paralysis[1] and Brugada syndrome.[3] KCNE3 is thought to be an accessory protein that serves to inhibit the fast inactivating Kv channel Kv4.3 (the A-current).[4]
See also
References
- ↑ 1.0 1.1 "Entrez Gene: KCNE3 potassium voltage-gated channel, Isk-related family, member 3".
- ↑ Abbott GW, Sesti F, Splawski I, Buck ME, Lehmann MH, Timothy KW, Keating MT, Goldstein SA (April 1999). "MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia". Cell 97 (2): 175–87. doi:10.1016/S0092-8674(00)80728-X. PMID 10219239.
- ↑ Delpón E, Cordeiro JM, Núñez L, Thomsen PE, Guerchicoff A, Pollevick GD, Wu Y, Kanters JK, Larsen CT, Burashnikov E, Christiansen M, Antzelevitch C (2008). "Functional Effects of KCNE3 Mutation and its Role in the Development of Brugada Syndrome". Circ Arrhythm Electrophysiol 1 (3): 209–218. doi:10.1161/CIRCEP.107.748103. PMC 2585750. PMID 19122847.
- ↑ Lundby A, Olesen, SP (2006). "KCNE3 is an inhibitory subunit of the Kv4.3 potassium channel". Biochemical and Biophysical Research Communications 346 (3): 958–967. doi:10.1016/j.bbrc.2006.06.004. PMID 16782062.
Further reading
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
- 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:10.1038/35003200. 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:10.1074/jbc.M010713200. 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. doi:10.1016/S0092-8674(01)00207-0. PMID 11207363.
- Dedek K, Waldegger S (2002). "Colocalization of KCNQ1/KCNE channel subunits in the mouse gastrointestinal tract". Pflugers Arch. 442 (6): 896–902. doi:10.1007/s004240100609. 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:10.1096/fj.01-0520hyp. 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. doi:10.1172/JCI15062. PMC 150950. 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. doi:10.1210/jc.2002-020698. 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:10.1073/pnas.242603899. PMC 139241. 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:10.1101/gr.2596504. PMC 528928. 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:10.1016/j.ygeno.2005.09.004. 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:10.1113/jphysiol.2005.100644. PMC 1479883. PMID 16308347.
- Oh JH, Yang JO, Hahn Y et al. (2006). "Transcriptome analysis of human gastric cancer". Mamm. Genome 16 (12): 942–54. doi:10.1007/s00335-005-0075-2. 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:10.1159/000089410. 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:10.1096/fj.05-5070com. PMID 16449802.
- 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:10.1124/mol.107.034868. PMID 17495071.
External links
- GeneReviews/NIH/NCBI/UW entry on Brugada syndrome
- KCNE3 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
- KCNE3 human gene location in the UCSC Genome Browser.
- KCNE3 human gene details in the UCSC Genome Browser.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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