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KCNE1L: Wikis

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KCNE1-like
Identifiers
Symbols KCNE1L; KCNE5
External IDs OMIM300328 MGI1913490 HomoloGene8177 GeneCards: KCNE1L Gene
Orthologs
Species Human Mouse
Entrez 23630 66240
Ensembl ENSG00000176076 ENSMUSG00000057263
UniProt Q9UJ90 Q9QZ26
RefSeq (mRNA) NM_012282 NM_021487
RefSeq (protein) NP_036414 NP_067462
Location (UCSC) Chr X:
108.75 - 108.76 Mb
Chr X:
138.74 - 138.74 Mb
PubMed search [1] [2]

KCNE1-like also known as KCNE1L is a protein which in humans is encoded by the KCNE1L gene.[1][2]

Contents

Function

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 membrane protein which has sequence similarity to the KCNE1 gene product, a member of the potassium channel, voltage-gated, isk-related subfamily.[2]

Clinical significance

This intronless gene is deleted in AMME contiguous gene syndrome and may be involved in the cardiac and neurologic abnormalities found in the AMME contiguous gene syndrome.[1]

References

  1. ^ a b Piccini M, Vitelli F, Seri M, Galietta LJ, Moran O, Bulfone A, Banfi S, Pober B, Renieri A (September 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.  
  2. ^ a b "Entrez Gene: KCNE1L". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23630.  

Further reading

  • Yang Y, Xia M, Jin Q, et al. (2004). "Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation.". Am. J. Hum. Genet. 75 (5): 899-905. doi:10.1086/425342. PMID 15368194.  
  • Hofman-Bang J, Jespersen T, Grunnet M, et al. (2004). "Does KCNE5 play a role in long QT syndrome?". Clin. Chim. Acta 345 (1-2): 49-53. doi:10.1016/j.cccn.2004.02.033. PMID 15193977.  
  • 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. PMID 15489334.  
  • Ravn LS, Hofman-Bang J, Dixen U, et al. (2005). "Relation of 97T polymorphism in KCNE5 to risk of atrial fibrillation.". Am. J. Cardiol. 96 (3): 405-7. doi:10.1016/j.amjcard.2005.03.086. PMID 16054468.  
  • Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171-4. PMID 8125298.  
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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. PMID 12477932.  
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149-56. PMID 9373149.  
  • Ravn LS, Aizawa Y, Pollevick GD, et al. (2008). "Gain of function in IKs secondary to a mutation in KCNE5 associated with atrial fibrillation.". Heart rhythm : the official journal of the Heart Rhythm Society 5 (3): 427-35. doi:10.1016/j.hrthm.2007.12.019. PMID 18313602.  
  • 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.  

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

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