LOCUS       NM_002234               2910 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens potassium voltage-gated channel subfamily A member 5
            (KCNA5), mRNA.
ACCESSION   NM_002234
VERSION     NM_002234.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2910)
  AUTHORS   Rahman,R.A., Zaman,B., Khan,M.R., Islam,M.S. and Rashid,M.H.
  TITLE     Computational Studies Show How the H463R Mutation Turns hKv1.5 into
            an Inactivation State
  JOURNAL   J Phys Chem B 128 (2), 429-439 (2024)
   PUBMED   38179652
  REMARK    GeneRIF: Computational Studies Show How the H463R Mutation Turns
            hKv1.5 into an Inactivation State.
REFERENCE   2  (bases 1 to 2910)
  AUTHORS   Vera-Zambrano,A., Lago-Docampo,M., Gallego,N.,
            Franco-Gonzalez,J.F., Morales-Cano,D., Cruz-Utrilla,A.,
            Villegas-Esguevillas,M., Fernandez-Malave,E., Escribano-Subias,P.,
            Tenorio-Castano,J.A., Perez-Vizcaino,F., Valverde,D., Gonzalez,T.
            and Cogolludo,A.
  CONSRTM   Spanish group of Ion Channels in Pulmonary Hypertension (SICPH)
            investigators
  TITLE     Novel Loss-of-Function KCNA5 Variants in Pulmonary Arterial
            Hypertension
  JOURNAL   Am J Respir Cell Mol Biol 69 (2), 147-158 (2023)
   PUBMED   36917789
  REMARK    GeneRIF: Novel Loss-of-Function KCNA5 Variants in Pulmonary
            Arterial Hypertension.
REFERENCE   3  (bases 1 to 2910)
  AUTHORS   Macias,A., de la Cruz,A., Peraza,D.A., Benito-Bueno,A., Gonzalez,T.
            and Valenzuela,C.
  TITLE     KV1.5-KVbeta1.3 Recycling Is PKC-Dependent
  JOURNAL   Int J Mol Sci 22 (3), 1336 (2021)
   PUBMED   33572906
  REMARK    GeneRIF: KV1.5-KVbeta1.3 Recycling Is PKC-Dependent.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2910)
  AUTHORS   Farah,A., Kabbage,M., Atafi,S., Gabteni,A.J., Barbirou,M.,
            Madhioub,M., Hamzaoui,L., Mohamed,M.A., Touinsi,H., Kchaou,A.O.,
            Chelbi,E., Boubaker,S., Abderrazek,R.B. and Bouhaouala-Zahar,B.
  TITLE     Selective expression of KCNA5 and KCNB1 genes in gastric and
            colorectal carcinoma
  JOURNAL   BMC Cancer 20 (1), 1179 (2020)
   PUBMED   33267786
  REMARK    GeneRIF: Selective expression of KCNA5 and KCNB1 genes in gastric
            and colorectal carcinoma.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2910)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 2910)
  AUTHORS   Mays,D.J., Foose,J.M., Philipson,L.H. and Tamkun,M.M.
  TITLE     Localization of the Kv1.5 K+ channel protein in explanted cardiac
            tissue
  JOURNAL   J Clin Invest 96 (1), 282-292 (1995)
   PUBMED   7615797
REFERENCE   7  (bases 1 to 2910)
  AUTHORS   Crumb,W.J. Jr., Wible,B., Arnold,D.J., Payne,J.P. and Brown,A.M.
  TITLE     Blockade of multiple human cardiac potassium currents by the
            antihistamine terfenadine: possible mechanism for
            terfenadine-associated cardiotoxicity
  JOURNAL   Mol Pharmacol 47 (1), 181-190 (1995)
   PUBMED   7838127
REFERENCE   8  (bases 1 to 2910)
  AUTHORS   Curran,M.E., Landes,G.M. and Keating,M.T.
  TITLE     Molecular cloning, characterization, and genomic localization of a
            human potassium channel gene
  JOURNAL   Genomics 12 (4), 729-737 (1992)
   PUBMED   1349297
REFERENCE   9  (bases 1 to 2910)
  AUTHORS   Tamkun,M.M., Knoth,K.M., Walbridge,J.A., Kroemer,H., Roden,D.M. and
            Glover,D.M.
  TITLE     Molecular cloning and characterization of two voltage-gated K+
            channel cDNAs from human ventricle
  JOURNAL   FASEB J 5 (3), 331-337 (1991)
   PUBMED   2001794
REFERENCE   10 (bases 1 to 2910)
  AUTHORS   Philipson,L.H., Hice,R.E., Schaefer,K., LaMendola,J., Bell,G.I.,
            Nelson,D.J. and Steiner,D.F.
  TITLE     Sequence and functional expression in Xenopus oocytes of a human
            insulinoma and islet potassium channel
  JOURNAL   Proc Natl Acad Sci U S A 88 (1), 53-57 (1991)
   PUBMED   1986382
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005906.1, BC099665.3,
            BM692565.1 and BM663787.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_002234.3.
            
            Summary: Potassium channels represent the most complex class of
            voltage-gated ino 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. Four sequence-related potassium
            channel genes - shaker, shaw, shab, and shal - have been identified
            in Drosophila, and each has been shown to have human homolog(s).
            This gene encodes a member of the potassium channel, voltage-gated,
            shaker-related subfamily. This member contains six
            membrane-spanning domains with a shaker-type repeat in the fourth
            segment. It belongs to the delayed rectifier class, the function of
            which could restore the resting membrane potential of beta cells
            after depolarization and thereby contribute to the regulation of
            insulin secretion. This gene is intronless, and the gene is
            clustered with genes KCNA1 and KCNA6 on chromosome 12. Defects in
            this gene are a cause of familial atrial fibrillation type 7
            (ATFB7). [provided by RefSeq, May 2012].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript is intronless :: SRR1803613.198188.1,
                                        SRR1660807.110520.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000252321.5/ ENSP00000252321.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-103               AC005906.1         109368-109470       c
            104-1417            BC099665.3         25-1338
            1418-1418           AC005906.1         108053-108053       c
            1419-2165           BC099665.3         1340-2086
            2166-2551           BM692565.1         116-501
            2552-2910           BM663787.1         17-375              c
FEATURES             Location/Qualifiers
     source          1..2910
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.32"
     gene            1..2910
                     /gene="KCNA5"
                     /gene_synonym="ATFB7; HCK1; HK2; HPCN1; KV1.5; PCN1"
                     /note="potassium voltage-gated channel subfamily A member
                     5"
                     /db_xref="GeneID:3741"
                     /db_xref="HGNC:HGNC:6224"
                     /db_xref="MIM:176267"
     exon            1..2910
                     /gene="KCNA5"
                     /gene_synonym="ATFB7; HCK1; HK2; HPCN1; KV1.5; PCN1"
                     /inference="alignment:Splign:2.1.0"
     CDS             270..2111
                     /gene="KCNA5"
                     /gene_synonym="ATFB7; HCK1; HK2; HPCN1; KV1.5; PCN1"
                     /note="cardiac potassium channel; potassium channel 1;
                     insulinoma and islet potassium channel; voltage-gated
                     potassium channel protein Kv1.5; voltage-gated potassium
                     channel HK2; voltage-gated potassium channel subunit
                     Kv1.5; potassium voltage-gated channel, shaker-related
                     subfamily, member 5; potassium channel, voltage gated
                     shaker related subfamily A, member 5"
                     /codon_start=1
                     /product="potassium voltage-gated channel subfamily A
                     member 5"
                     /protein_id="NP_002225.2"
                     /db_xref="CCDS:CCDS8536.1"
                     /db_xref="GeneID:3741"
                     /db_xref="HGNC:HGNC:6224"
                     /db_xref="MIM:176267"
                     /translation="MEIALVPLENGGAMTVRGGDEARAGCGQATGGELQCPPTAGLSD
                     GPKEPAPKGRGAQRDADSGVRPLPPLPDPGVRPLPPLPEELPRPRRPPPEDEEEEGDP
                     GLGTVEDQALGTASLHHQRVHINISGLRFETQLGTLAQFPNTLLGDPAKRLRYFDPLR
                     NEYFFDRNRPSFDGILYYYQSGGRLRRPVNVSLDVFADEIRFYQLGDEAMERFREDEG
                     FIKEEEKPLPRNEFQRQVWLIFEYPESSGSARAIAIVSVLVILISIITFCLETLPEFR
                     DERELLRHPPAPHQPPAPAPGANGSGVMAPPSGPTVAPLLPRTLADPFFIVETTCVIW
                     FTFELLVRFFACPSKAGFSRNIMNIIDVVAIFPYFITLGTELAEQQPGGGGGGQNGQQ
                     AMSLAILRVIRLVRVFRIFKLSRHSKGLQILGKTLQASMRELGLLIFFLFIGVILFSS
                     AVYFAEADNQGTHFSSIPDAFWWAVVTMTTVGYGDMRPITVGGKIVGSLCAIAGVLTI
                     ALPVPVIVSNFNYFYHRETDHEEPAVLKEEQGTQSQGPGLDRGVQRKVSGSRGSFCKA
                     GGTLENADSARRGSCPLEKCNVKAKSNVDLRRSLYALCLDTSRETDL"
     regulatory      2885..2890
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNA5"
                     /gene_synonym="ATFB7; HCK1; HK2; HPCN1; KV1.5; PCN1"
                     /note="hexamer: AATAAA"
     polyA_site      2910
                     /gene="KCNA5"
                     /gene_synonym="ATFB7; HCK1; HK2; HPCN1; KV1.5; PCN1"
                     /note="major polyA site"
ORIGIN      
        1 agagaggggc ggctgaaggt tgcatctgct ggaaggaggc ttttcggctg cttggtaacg
       61 ggctgccaga agagagagag gcagagagca gggcagcggc ttcttgacgt cagggccaag
      121 cgaggggatc gcgccagcaa ccccagctct ccccagagag gggccggccg accgctggag
      181 cggagcctga cgccaggcgc ccgcggagcg tgagtagggg gcgcgggagc cggtcagctg
      241 gggcgcagca tgccctctgc tcccgcgcca tggagatcgc cctggtgccc ctggagaacg
      301 gcggtgccat gaccgtcaga ggaggcgatg aggcccgggc aggctgcggc caggccacag
      361 ggggagagct ccagtgtccc ccgacggctg ggctcagcga tgggcccaag gagccggcgc
      421 caaaggggcg cggcgcgcag agagacgcgg actcgggagt gcggcccttg cctccgctgc
      481 cggacccggg agtgcggccc ttgcctccgc tgccagagga gctgccacgg cctcgacggc
      541 cgcctcccga ggacgaggag gaagaaggcg atcccggcct gggcacggtg gaggaccagg
      601 ctctgggcac ggcgtccctg caccaccagc gcgtccacat caacatctcc gggctgcgct
      661 ttgagacgca gctgggcacc ctggcgcagt tccccaacac actcctgggg gaccccgcca
      721 agcgcctgcg ctacttcgac cccctgagga acgagtactt cttcgaccgc aaccggccca
      781 gcttcgacgg tatcctctac tactaccagt ccgggggccg cctgcggagg ccggtcaacg
      841 tctccctgga cgtgttcgcg gacgagatac gcttctacca gctgggggac gaggccatgg
      901 agcgcttccg cgaggatgag ggcttcatta aagaagagga gaagcccctg ccccgcaacg
      961 agttccagcg ccaggtgtgg cttatcttcg agtatccgga gagctctggg tccgcgcggg
     1021 ccatcgccat cgtctcggtc ttggttatcc tcatctccat catcaccttc tgcttggaga
     1081 ccctgcctga gttcagggat gaacgtgagc tgctccgcca ccctccggcg ccccaccagc
     1141 ctcccgcgcc cgcccctggg gccaacggca gcggggtcat ggccccgccc tctggcccta
     1201 cggtggcacc gctcctgccc aggaccctgg ccgacccctt cttcatcgtg gagaccacgt
     1261 gcgtcatctg gttcaccttc gagctgctcg tgcgcttctt cgcctgcccc agcaaggcag
     1321 ggttctcccg gaacatcatg aacatcatcg atgtggtggc catcttcccc tacttcatca
     1381 ccctgggcac cgaactggca gagcagcagc cagggggtgg aggaggcggc cagaatgggc
     1441 agcaggccat gtccctggcc atcctccgag tcatccgcct ggtccgggtg ttccgcatct
     1501 tcaagctctc ccgccactcc aaggggctgc agatcctggg caagaccttg caggcctcca
     1561 tgagggagct ggggctgctc atcttcttcc tcttcatcgg ggtcatcctc ttctccagtg
     1621 ccgtctactt cgcagaggct gacaaccagg gaacccattt ctctagcatc cctgacgcct
     1681 tctggtgggc agtggtcacc atgaccactg tgggctacgg ggacatgagg cccatcactg
     1741 ttgggggcaa gatcgtgggc tcgctgtgtg ccatcgccgg ggtcctcacc attgccctgc
     1801 ctgtgcccgt catcgtctcc aacttcaact acttctacca ccgggaaacg gatcacgagg
     1861 agccggcagt ccttaaggaa gagcagggca ctcagagcca ggggccgggg ctggacagag
     1921 gagtccagcg gaaggtcagc gggagcaggg gatccttctg caaggctggg gggaccctgg
     1981 agaatgcaga cagtgcccga aggggcagct gccccctaga gaagtgtaac gtcaaggcca
     2041 agagcaacgt ggacttgcgg aggtcccttt atgccctctg cctggacacc agccgggaaa
     2101 cagatttgtg aaaggagatt caggcagact ggtggcagtg gagtagggaa tgggaggctt
     2161 gctgaacatg gatatctaca ttataccgca gagtatttga agtcacactg taacctcagt
     2221 ctacccctct cctttcactc ctttcctccc tccctcgatc cccccatttt ctctattctt
     2281 tccatgacac ccaagggtcg cctattttta aaaagtacca cattccatga cgcaggagct
     2341 gtggaaatgg tgagcgctgt gagatggatg tatttgtagc cagtctccta tacccagcag
     2401 agggataacc caaacaaaaa tgactctaaa tagcccagat cccaagagat tatgtaactc
     2461 ctccatccat gtgttccaaa tttgctttac atatgattgt atttgtgtat aggggaaaat
     2521 attattttta tgcctggtaa gtggcttttt gtactgtagt tcagatagag atattttggg
     2581 tatattttca agatacatgt tgtatttatg gaagaaagag ttgtcctgat gtttttctgt
     2641 gttacttata ttagagtcag agatcttggt atgggctgtt ctgtttcctg tgtctccaag
     2701 cctctgtctt ttctgggatg tggtattggt gctttgtgtc tagggcagag tatgttcttg
     2761 aagaaaggca aatctgactt tttctgtgcg ccttaaacaa ttcttgtaac tttcttcaaa
     2821 aagcatttta atgatattgg aggaatactt ctgataattt attgtcttta tttttatccc
     2881 aggaaataaa aggttacctt gttgaggcaa
//
