LOCUS       NM_012282               1473 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens potassium voltage-gated channel subfamily E regulatory
            subunit 5 (KCNE5), mRNA.
ACCESSION   NM_012282
VERSION     NM_012282.4
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 1473)
  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   2  (bases 1 to 1473)
  AUTHORS   Lin,Y., Huang,J., He,S., Feng,R., Zhong,Z., Liu,Y., Ye,W., Li,X.,
            Liao,H., Fei,H., Rao,F., Shan,Z., Deng,C., Zhan,X., Xue,Y., Liu,H.,
            Zhang,B., Wang,K., Zhang,Q., Wu,S. and Lin,X.
  TITLE     Case report of familial sudden cardiac death caused by a DSG2
            p.F531C mutation as genetic background when carrying with
            heterozygous KCNE5 p.D92E/E93X mutation
  JOURNAL   BMC Med Genet 19 (1), 148 (2018)
   PUBMED   30129429
  REMARK    GeneRIF: Carriers of DSG2p.F531C showed various phenotypes.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1473)
  AUTHORS   Abbott,G.W.
  TITLE     KCNE4 and KCNE5: K(+) channel regulation and cardiac
            arrhythmogenesis
  JOURNAL   Gene 593 (2), 249-260 (2016)
   PUBMED   27484720
  REMARK    Review article
REFERENCE   4  (bases 1 to 1473)
  AUTHORS   David,J.P., Stas,J.I., Schmitt,N. and Bocksteins,E.
  TITLE     Auxiliary KCNE subunits modulate both homotetrameric Kv2.1 and
            heterotetrameric Kv2.1/Kv6.4 channels
  JOURNAL   Sci Rep 5, 12813 (2015)
   PUBMED   26242757
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1473)
  AUTHORS   Palmer,B.R., Frampton,C.M., Skelton,L., Yandle,T.G., Doughty,R.N.,
            Whalley,G.A., Ellis,C.J., Troughton,R.W., Richards,A.M. and
            Cameron,V.A.
  TITLE     KCNE5 polymorphism rs697829 is associated with QT interval and
            survival in acute coronary syndromes patients
  JOURNAL   J Cardiovasc Electrophysiol 23 (3), 319-324 (2012)
   PUBMED   21985337
  REMARK    GeneRIF: common single nucleotide polymorphism (SNP) from KCNE5,
            and ECG measurements and survival in postacute acute coronary
            syndrome patients
REFERENCE   6  (bases 1 to 1473)
  AUTHORS   Yang,Y., Xia,M., Jin,Q., Bendahhou,S., Shi,J., Chen,Y., Liang,B.,
            Lin,J., Liu,Y., Liu,B., Zhou,Q., Zhang,D., Wang,R., Ma,N., Su,X.,
            Niu,K., Pei,Y., Xu,W., Chen,Z., Wan,H., Cui,J., Barhanin,J. and
            Chen,Y.
  TITLE     Identification of a KCNE2 gain-of-function mutation in patients
            with familial atrial fibrillation
  JOURNAL   Am J Hum Genet 75 (5), 899-905 (2004)
   PUBMED   15368194
REFERENCE   7  (bases 1 to 1473)
  AUTHORS   Hofman-Bang,J., Jespersen,T., Grunnet,M., Larsen,L.A.,
            Andersen,P.S., Kanters,J.K., Kjeldsen,K. and Christiansen,M.
  TITLE     Does KCNE5 play a role in long QT syndrome?
  JOURNAL   Clin Chim Acta 345 (1-2), 49-53 (2004)
   PUBMED   15193977
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 1473)
  AUTHORS   Angelo,K., Jespersen,T., Grunnet,M., Nielsen,M.S., Klaerke,D.A. and
            Olesen,S.P.
  TITLE     KCNE5 induces time- and voltage-dependent modulation of the KCNQ1
            current
  JOURNAL   Biophys J 83 (4), 1997-2006 (2002)
   PUBMED   12324418
REFERENCE   9  (bases 1 to 1473)
  AUTHORS   Piccini,M., Vitelli,F., Seri,M., Galietta,L.J., Moran,O.,
            Bulfone,A., Banfi,S., Pober,B. and Renieri,A.
  TITLE     KCNE1-like gene is deleted in AMME contiguous gene syndrome:
            identification and characterization of the human and mouse homologs
  JOURNAL   Genomics 60 (3), 251-257 (1999)
   PUBMED   10493825
REFERENCE   10 (bases 1 to 1473)
  AUTHORS   Brugada,R., Campuzano,O., Sarquella-Brugada,G., Brugada,P.,
            Brugada,J. and Hong,K.
  TITLE     Brugada Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301690
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL118496.22, AK314923.1 and
            BC035330.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_012282.3.
            
            Summary: This gene encodes a member of a family of single pass
            transmembrane domain proteins that function as ancillary subunits
            to voltage-gated potassium channels. Members of this family affect
            diverse processes in potassium channel regulation, including ion
            selectivity, voltage dependence, and anterograde recycling from the
            plasma membrane. Variants of this gene are associated with
            idiopathic ventricular fibrillation and Brugada syndrome. [provided
            by RefSeq, Nov 2016].
            
            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 :: SRR3476690.1123102.1, AK223306.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372101.3/ ENSP00000361173.2
            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
            1-4                 AL118496.22        76133-76136         c
            5-29                AK314923.1         1-25
            30-1224             BC035330.1         1-1195
            1225-1225           AL118496.22        74912-74912         c
            1226-1473           BC035330.1         1197-1444
FEATURES             Location/Qualifiers
     source          1..1473
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq23"
     gene            1..1473
                     /gene="KCNE5"
                     /gene_synonym="KCNE1L"
                     /note="potassium voltage-gated channel subfamily E
                     regulatory subunit 5"
                     /db_xref="GeneID:23630"
                     /db_xref="HGNC:HGNC:6241"
                     /db_xref="MIM:300328"
     exon            1..1473
                     /gene="KCNE5"
                     /gene_synonym="KCNE1L"
                     /inference="alignment:Splign:2.1.0"
     CDS             153..581
                     /gene="KCNE5"
                     /gene_synonym="KCNE1L"
                     /note="potassium voltage-gated channel, Isk-related
                     family, member 1-like; AMMECR2 protein; KCNE1-like;
                     potassium channel subunit beta MiRP4; potassium
                     voltage-gated channel subfamily E member 1-like protein;
                     cardiac voltage-gated potassium channel accessory subunit
                     5; AMME syndrome candidate gene 2 protein"
                     /codon_start=1
                     /product="potassium voltage-gated channel subfamily E
                     regulatory beta subunit 5"
                     /protein_id="NP_036414.1"
                     /db_xref="CCDS:CCDS14547.1"
                     /db_xref="GeneID:23630"
                     /db_xref="HGNC:HGNC:6241"
                     /db_xref="MIM:300328"
                     /translation="MNCSESQRLRTLLSRLLLELHHRGNASGLGAGPRPSMGMGVVPD
                     PFVGREVTSAKGDDAYLYILLIMIFYACLAGGLILAYTRSRKLVEAKDEPSQACAEHE
                     WAPGGALTADAEAAAGSQAEGRRQLASEGLPALAQGAERV"
     regulatory      1451..1456
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNE5"
                     /gene_synonym="KCNE1L"
                     /note="hexamer: AATAAA"
     polyA_site      1473
                     /gene="KCNE5"
                     /gene_synonym="KCNE1L"
                     /note="major polyA site"
ORIGIN      
        1 agccactgcg cgctcgccgg agagctgggt gctaccgctg tttccgctgc tgagccctgc
       61 ccgccggccg gcccgctcgc tagctcgctt cccctcgccc agggggaaag gtcagcagcg
      121 tcctggagcc gccgtgtcac tccccgaaag ccatgaactg cagcgagagc cagcggctgc
      181 gaacccttct gagccgcctg ttgctcgagc tgcaccaccg gggtaatgcc agcggcttgg
      241 gcgctggccc tcgtcccagc atgggcatgg gggtcgtgcc tgaccctttc gtgggccgcg
      301 aggtgaccag cgccaagggc gacgacgcct atctctacat cctgctcatc atgatcttct
      361 acgcctgctt ggccggaggc ctcatcctgg cctacacccg ctcccgtaag ctcgtcgagg
      421 ccaaggacga gccgtcccag gcttgcgccg agcacgaatg ggccccggga ggcgccctga
      481 ccgccgacgc cgaggctgcc gcgggctccc aggccgaggg ccgccgccag cttgcctccg
      541 aggggctgcc tgccctcgcc cagggcgctg agcgggtcta aaaccacagc cccagattgc
      601 tggttcgcgc cctcctcatc tcgctcatcc ctgggcgcgc ctcccacctt ccacccccaa
      661 ctcccttcca gggttcgcct catctgaggc ccagataatg gtgagaggcc aggagacctt
      721 gtctggaagg ccctggaagg agaagcacca ccttacccat tcgggccagt ttctccctct
      781 tcacccctgc gcctccaccc ctaccccgca catccaactg cactaaactg cctctgctct
      841 cttgtcttca gacagccctg acagcacgct ccagccctct gggaactgaa tccaacacgt
      901 ccaacacttg gcactgaact gaagcaatgc attctatcag aactctgggc cgtctaactg
      961 gcagctgctc caggggctgc cagggactgc tcactctgca gagccaacgg gcttgccagg
     1021 ccgactgcag cagctccagc ttccagttgc cttagggaca gagacaaagg aaatgaagag
     1081 acctcagaca tcttttccct ccctctctct ttcagcaggg agctagcagg acactaggac
     1141 cagtctgtgg gatagaatga acttaatggg ggacggaagg gggaggagtg ctcaacgggg
     1201 agggaaatga tctatgactc caaccgtatg attttcttgc ctccccagtt ttcatcccag
     1261 tggtaacgcc tgatttttgg tagctatgcc atcttctgct gaggattacc attactgggt
     1321 gtatcacccc agtacttcca aatgcctctc ctctattgat tcagttgtta ttgcagtgtc
     1381 tgcttcatcc gtggaacttg aggctcagat gccccctgct ctgtaaccct ggggaatgtc
     1441 agaggcaggt aataaaggtt gtttaaacaa taa
//
