KCNE1

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Potassium voltage-gated channel, Isk-related family, member 1
Identifiers
Symbol(s) KCNE1; ISK; JLNS; JLNS2; LQT5; MGC33114; MinK
External IDs OMIM: 176261 MGI: 96673 HomoloGene: 185
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 3753 16509
Ensembl ENSG00000180509 ENSMUSG00000039639
Uniprot P15382 Q545H6
Refseq NM_000219 (mRNA)
NP_000210 (protein)		 XM_983408 (mRNA)
XP_988502 (protein)
Location Chr 21: 34.74 - 34.81 Mb Chr 16: 92.23 - 92.25 Mb
Pubmed search [1] [2]

Potassium voltage-gated channel, Isk-related family, member 1, also known as KCNE1, is a human gene.[1]

KCNE1 is a gene associated with Long QT syndrome type 5. It can both cause Romano-Wards syndrome (heterozygotes) and Jervell Lange-Nielsens syndrome (homozygotes)

[edit] See also

[edit] References

  1. ^ Entrez Gene: KCNE1 potassium voltage-gated channel, Isk-related family, member 1.

[edit] Further reading

  • Murai T, Kakizuka A, Takumi T, et al. (1989). "Molecular cloning and sequence analysis of human genomic DNA encoding a novel membrane protein which exhibits a slowly activating potassium channel activity.". Biochem. Biophys. Res. Commun. 161 (1): 176–81. PMID 2730656. 
  • Malo MS, Srivastava K, Ingram VM (1995). "Gene assignment by polymerase chain reaction: localization of the human potassium channel IsK gene to the Down's syndrome region of chromosome 21q22.1-q22.2.". Gene 159 (2): 273–5. PMID 7622063. 
  • Lai LP, Deng CL, Moss AJ, et al. (1995). "Polymorphism of the gene encoding a human minimal potassium ion channel (minK).". Gene 151 (1-2): 339–40. PMID 7828904. 
  • Chevillard C, Attali B, Lesage F, et al. (1993). "Localization of a potassium channel gene (KCNE1) to 21q22.1-q22.2 by in situ hybridization and somatic cell hybridization.". Genomics 15 (1): 243–5. doi:10.1006/geno.1993.1051. PMID 8432548. 
  • Tesson F, Donger C, Denjoy I, et al. (1997). "Exclusion of KCNE1 (IsK) as a candidate gene for Jervell and Lange-Nielsen syndrome.". J. Mol. Cell. Cardiol. 28 (9): 2051–5. PMID 8899564. 
  • Sanguinetti MC, Curran ME, Zou A, et al. (1996). "Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel.". Nature 384 (6604): 80–3. doi:10.1038/384080a0. PMID 8900283. 
  • Neyroud N, Tesson F, Denjoy I, et al. (1997). "A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome.". Nat. Genet. 15 (2): 186–9. doi:10.1038/ng0297-186. PMID 9020846. 
  • McDonald TV, Yu Z, Ming Z, et al. (1997). "A minK-HERG complex regulates the cardiac potassium current I(Kr).". Nature 388 (6639): 289–92. doi:10.1038/40882. PMID 9230439. 
  • Chouabe C, Neyroud N, Guicheney P, et al. (1997). "Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias.". EMBO J. 16 (17): 5472–9. doi:10.1093/emboj/16.17.5472. PMID 9312006. 
  • Tyson J, Tranebjaerg L, Bellman S, et al. (1997). "IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome.". Hum. Mol. Genet. 6 (12): 2179–85. PMID 9328483. 
  • Schulze-Bahr E, Wang Q, Wedekind H, et al. (1997). "KCNE1 mutations cause jervell and Lange-Nielsen syndrome.". Nat. Genet. 17 (3): 267–8. doi:10.1038/ng1197-267. PMID 9354783. 
  • Splawski I, Tristani-Firouzi M, Lehmann MH, et al. (1997). "Mutations in the hminK gene cause long QT syndrome and suppress IKs function.". Nat. Genet. 17 (3): 338–40. doi:10.1038/ng1197-338. PMID 9354802. 
  • Duggal P, Vesely MR, Wattanasirichaigoon D, et al. (1998). "Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome.". Circulation 97 (2): 142–6. PMID 9445165. 
  • Bianchi L, Shen Z, Dennis AT, et al. (1999). "Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome.". Hum. Mol. Genet. 8 (8): 1499–507. PMID 10400998. 
  • Piccini M, Vitelli F, Seri M, et al. (1999). "KCNE1-like gene is deleted in AMME contiguous gene syndrome: identification and characterization of the human and mouse homologs.". Genomics 60 (3): 251–7. doi:10.1006/geno.1999.5904. PMID 10493825. 
  • Hattori M, Fujiyama A, Taylor TD, et al. (2000). "The DNA sequence of human chromosome 21.". Nature 405 (6784): 311–9. doi:10.1038/35012518. PMID 10830953. 
  • Splawski I, Shen J, Timothy KW, et al. (2000). "Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.". Circulation 102 (10): 1178–85. PMID 10973849. 
  • 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. 
  • Schulze-Bahr E, Schwarz M, Hauenschild S, et al. (2002). "A novel long-QT 5 gene mutation in the C-terminus (V109I) is associated with a mild phenotype.". J. Mol. Med. 79 (9): 504–9. doi:10.1007/s001090100249. PMID 11692163. 
  • Furukawa T, Ono Y, Tsuchiya H, et al. (2001). "Specific interaction of the potassium channel beta-subunit minK with the sarcomeric protein T-cap suggests a T-tubule-myofibril linking system.". J. Mol. Biol. 313 (4): 775–84. doi:10.1006/jmbi.2001.5053. PMID 11697903. 
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