title: Initial isolation and analysis of the human Kv1.7 (KCNA7) gene, a member of the voltage-gated potassium channel gene family.
abstract: A novel human potassium channel gene was identified and isolated. The maximal open reading frame encodes a protein of 456 amino acids. The predicted product exhibits 91% amino acid identity to the murine voltage-gated potassium channel protein Kv1.7 (Kcna7), which plays an important role in the repolarization of cell membranes. Based on the high similarity, the human gene has been classified as the ortholog of the mouse Kcna7 and given the name Kv1.7 (KCNA7). A structural prediction identified a pore region characteristic of potassium channels and six membrane-spanning domains. Northern expression analysis revealed the gene is expressed preferentially in skeletal muscle, heart and kidney. However, it is expressed at lower level in other tissues, including liver. A single mRNA isoform was observed, with a size of approximately 4.5 kb. Using fluorescence in situ hybridization, the gene was mapped to chromosomal band 19q13.4 (269.13 cR(3000)). A genomic sequence was identified in the database from this region, and the KCNA7 gene structure determined. Computational analysis of the genomic sequence reveals the location of a putative promoter and a likely muscle-specific regulatory region. Initial comparison to the published murine Kcna7 cDNA suggested a different N-terminal sequence for the human protein, however, further analysis suggests that the original mouse sequence contained an error or an unusual polymorphism.
authors.affiliation: Center for Genomics Research, Karolinska Institute, 171 77, Stockholm, Sweden. vlakas@ki.se
authors.forename: V I
authors.initials: VI
authors.lastname: Kashuba
authors.forename: S M
authors.initials: SM
authors.lastname: Kvasha
authors.forename: A I
authors.initials: AI
authors.lastname: Protopopov
authors.forename: R Z
authors.initials: RZ
authors.lastname: Gizatullin
authors.forename: A V
authors.initials: AV
authors.lastname: Rynditch
authors.forename: C
authors.initials: C
authors.lastname: Wahlestedt
authors.forename: W W
authors.initials: WW
authors.lastname: Wasserman
authors.forename: E R
authors.initials: ER
authors.lastname: Zabarovsky
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002888:Chromosomes, Human, Pair 19; D003001:Cloning, Molecular; D005786:Gene Expression Regulation; D006801:Humans; D007668:Kidney / Q000502:physiology; D008099:Liver / Q000502:physiology; D051379:Mice; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000502:physiology; D015221:Potassium Channels / Q000235:genetics* / Q000378:metabolism; D024642:Potassium Channels, Voltage-Gated; D011401:Promoter Regions, Genetic; D017434:Protein Structure, Tertiary; D017386:Sequence Homology, Amino Acid; D051637:Shaker Superfamily of Potassium Channels
chemical_list: C431140:KCNA7 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; D051637:Shaker Superfamily of Potassium Channels