LOCUS       NM_000219               3505 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens potassium voltage-gated channel subfamily E regulatory
            subunit 1 (KCNE1), transcript variant 2, mRNA.
ACCESSION   NM_000219
VERSION     NM_000219.6
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 3505)
  AUTHORS   Muhammad,A., Calandranis,M.E., Li,B., Yang,T., Blackwell,D.J.,
            Harvey,M.L., Smith,J.E., Daniel,Z.A., Chew,A.E., Capra,J.A.,
            Matreyek,K.A., Fowler,D.M., Roden,D.M. and Glazer,A.M.
  TITLE     High-throughput functional mapping of variants in an arrhythmia
            gene, KCNE1, reveals novel biology
  JOURNAL   Genome Med 16 (1), 73 (2024)
   PUBMED   38816749
  REMARK    GeneRIF: High-throughput functional mapping of variants in an
            arrhythmia gene, KCNE1, reveals novel biology.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3505)
  AUTHORS   Renkhold,L., Kollmann,R., Inderwiedenstrasse,L. and Kienitz,M.C.
  TITLE     PKC-isoform specific regulation of receptor desensitization and
            KCNQ1/KCNE1 K+ channel activity by mutant alpha1B-adrenergic
            receptors
  JOURNAL   Cell Signal 91, 110228 (2022)
   PUBMED   34958868
  REMARK    GeneRIF: PKC-isoform specific regulation of receptor
            desensitization and KCNQ1/KCNE1 K(+) channel activity by mutant
            alpha1B-adrenergic receptors.
REFERENCE   3  (bases 1 to 3505)
  AUTHORS   Bhatt,I.S., Dias,R. and Torkamani,A.
  TITLE     Association Analysis of Candidate Gene Polymorphisms and Tinnitus
            in Young Musicians
  JOURNAL   Otol Neurotol 42 (9), e1203-e1212 (2021)
   PUBMED   34282101
  REMARK    GeneRIF: Association Analysis of Candidate Gene Polymorphisms and
            Tinnitus in Young Musicians.
REFERENCE   4  (bases 1 to 3505)
  AUTHORS   Wu,X., Perez,M.E., Noskov,S.Y. and Larsson,H.P.
  TITLE     A general mechanism of KCNE1 modulation of KCNQ1 channels involving
            non-canonical VSD-PD coupling
  JOURNAL   Commun Biol 4 (1), 887 (2021)
   PUBMED   34285340
  REMARK    GeneRIF: A general mechanism of KCNE1 modulation of KCNQ1 channels
            involving non-canonical VSD-PD coupling.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3505)
  AUTHORS   Malo,M.S., Srivastava,K. and Ingram,V.M.
  TITLE     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
  JOURNAL   Gene 159 (2), 273-275 (1995)
   PUBMED   7622063
REFERENCE   6  (bases 1 to 3505)
  AUTHORS   Lai,L.P., Deng,C.L., Moss,A.J., Kass,R.S. and Liang,C.S.
  TITLE     Polymorphism of the gene encoding a human minimal potassium ion
            channel (minK)
  JOURNAL   Gene 151 (1-2), 339-340 (1994)
   PUBMED   7828904
REFERENCE   7  (bases 1 to 3505)
  AUTHORS   Chevillard,C., Attali,B., Lesage,F., Fontes,M., Barhanin,J.,
            Lazdunski,M. and Mattei,M.G.
  TITLE     Localization of a potassium channel gene (KCNE1) to 21q22.1-q22.2
            by in situ hybridization and somatic cell hybridization
  JOURNAL   Genomics 15 (1), 243-245 (1993)
   PUBMED   8432548
REFERENCE   8  (bases 1 to 3505)
  AUTHORS   Tranebjaerg,L., Samson,R.A. and Green,G.E.
  TITLE     Jervell and Lange-Nielsen Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301579
REFERENCE   9  (bases 1 to 3505)
  AUTHORS   Groffen,A.J., Bikker,H. and Christiaans,I.
  TITLE     Long QT Syndrome Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301308
REFERENCE   10 (bases 1 to 3505)
  AUTHORS   Murai,T., Kakizuka,A., Takumi,T., Ohkubo,H. and Nakanishi,S.
  TITLE     Molecular cloning and sequence analysis of human genomic DNA
            encoding a novel membrane protein which exhibits a slowly
            activating potassium channel activity
  JOURNAL   Biochem Biophys Res Commun 161 (1), 176-181 (1989)
   PUBMED   2730656
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC046224.1, AP000324.1,
            KC877871.1 and AI720140.1.
            
            On Nov 23, 2018 this sequence version replaced NM_000219.5.
            
            Summary: The product of this gene belongs to the potassium channel
            KCNE family. Potassium ion channels are essential to many cellular
            functions and show a high degree of diversity, varying in their
            electrophysiologic and pharmacologic properties. This gene encodes
            a transmembrane protein known to associate with the product of the
            KVLQT1 gene to form the delayed rectifier potassium channel.
            Mutation in this gene are associated with both Jervell and
            Lange-Nielsen and Romano-Ward forms of long-QT syndrome.
            Alternatively spliced transcript variants encoding the same protein
            have been identified. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) is the longest transcript. All
            variants encode the same protein.
            
            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 exon combination :: BC046224.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142670, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000399286.3/
                                                ENSP00000382226.2
            RefSeq Select criteria           :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-671               BC046224.1         66-736
            672-2923            AP000324.1         797-3048            c
            2924-3024           KC877871.1         1-101               c
            3025-3479           AP000324.1         241-695             c
            3480-3505           AI720140.1         6-31                c
FEATURES             Location/Qualifiers
     source          1..3505
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.12"
     gene            1..3505
                     /gene="KCNE1"
                     /gene_synonym="ISK; JLNS; JLNS2; LQT2/5; LQT5; MinK"
                     /note="potassium voltage-gated channel subfamily E
                     regulatory subunit 1"
                     /db_xref="GeneID:3753"
                     /db_xref="HGNC:HGNC:6240"
                     /db_xref="MIM:176261"
     exon            1..184
                     /gene="KCNE1"
                     /gene_synonym="ISK; JLNS; JLNS2; LQT2/5; LQT5; MinK"
                     /inference="alignment:Splign:2.1.0"
     exon            185..399
                     /gene="KCNE1"
                     /gene_synonym="ISK; JLNS; JLNS2; LQT2/5; LQT5; MinK"
                     /inference="alignment:Splign:2.1.0"
     exon            400..510
                     /gene="KCNE1"
                     /gene_synonym="ISK; JLNS; JLNS2; LQT2/5; LQT5; MinK"
                     /inference="alignment:Splign:2.1.0"
     exon            511..3505
                     /gene="KCNE1"
                     /gene_synonym="ISK; JLNS; JLNS2; LQT2/5; LQT5; MinK"
                     /inference="alignment:Splign:2.1.0"
     CDS             561..950
                     /gene="KCNE1"
                     /gene_synonym="ISK; JLNS; JLNS2; LQT2/5; LQT5; MinK"
                     /note="cardiac delayed rectifier potassium channel
                     protein; potassium channel, voltage gated subfamily E
                     regulatory beta subunit 1; delayed rectifier potassium
                     channel subunit IsK; potassium voltage-gated channel,
                     Isk-related family, member 1; IKs producing slow
                     voltage-gated potassium channel subunit beta Mink; minimal
                     potassium channel; potassium voltage-gated channel,
                     Isk-related subfamily, member 1; Long QT syndrome 5;
                     voltage gated potassiun channel accessory subunit"
                     /codon_start=1
                     /product="potassium voltage-gated channel subfamily E
                     member 1"
                     /protein_id="NP_000210.2"
                     /db_xref="CCDS:CCDS13636.1"
                     /db_xref="GeneID:3753"
                     /db_xref="HGNC:HGNC:6240"
                     /db_xref="MIM:176261"
                     /translation="MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEA
                     LYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNVYIESDAWQEKDKAYVQARVLES
                     YRSCYVVENHLAIEQPNTHLPETKPSP"
     regulatory      3486..3491
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNE1"
                     /gene_synonym="ISK; JLNS; JLNS2; LQT2/5; LQT5; MinK"
                     /note="hexamer: ATTAAA"
     polyA_site      3505
                     /gene="KCNE1"
                     /gene_synonym="ISK; JLNS; JLNS2; LQT2/5; LQT5; MinK"
                     /note="major polyA site"
ORIGIN      
        1 gcatttgaca cttgactggg atacactacc ggatcctccg agggtgatgg ttctcaagaa
       61 ggcagaagca atggtgacca atagacctcc ttaaaggctg agccgctggg caccttccta
      121 ctcctctcga ccgtgctagg atgactgcag cagagtcccc gagtcctttg atgcaagggt
      181 ctagcaacca ccaaacagac aagcccttcg gcctgtcctg gagggcgttg aatggcatgg
      241 cctggagctc aaccaggaga accgtgctca ggaggaagag accagaagga taactcaaaa
      301 agttctgaga agttcctaag accacctgaa gagaaggagc ctgctgccaa tggtgtggac
      361 accgcagtgt gcttgaggag acttcagaaa cgagaactgg aaaaatccct ctgctttctc
      421 tggccagttt cacacaatca tcaggtgagc cgaggatcca ttggaggaag gcattatctg
      481 tatccagagg aaatagccaa ggatattcag aggtgtgcct gggaagtttg agctgcagca
      541 gtggaacctt aatgcccagg atgatcctgt ctaacaccac agcggtgacg ccctttctga
      601 ccaagctgtg gcaggagaca gttcagcagg gtggcaacat gtcgggcctg gcccgcaggt
      661 ccccccgcag cagtgacggc aagctggagg ccctctacgt cctcatggta ctgggattct
      721 tcggcttctt caccctgggc atcatgctga gctacatccg ctccaagaag ctggagcact
      781 cgaacgaccc attcaacgtc tacatcgagt ccgatgcctg gcaagagaag gacaaggcct
      841 atgtccaggc ccgggtcctg gagagctaca ggtcgtgcta tgtcgttgaa aaccatctgg
      901 ccatagaaca acccaacaca caccttcctg agacgaagcc ttccccatga accccaccac
      961 tggctaaaac tggacacatc ctgcctggca acctgatttt ctaatcacat tcctctcata
     1021 ctctttattg tgatggatac cactggattt ctttttggct gttgtaaggg gtgaggggtg
     1081 gattaatgac actgtttcac tgtttctcta aaatcacgtt cttttgtgat agactgtcag
     1141 tggttccccc atatctgtcc ctgccttgct aaatttagca gaatccctga ggacatggcc
     1201 tctgagaata gcagctgcat ttcccagact cccttgcagc tagcaaggtt gtgtgactaa
     1261 gccctggcca gtaggcatgg aagtgaagac tgtaatgtcc aagtaatcct tggaaagaaa
     1321 agaacgtgcc cttaactaac tttgtcctgc ttcccagtgg ctggatgtgg aggaggtgga
     1381 gagcagttat gagactggga aagaacgggg cactcaaaga gccacacaca tctgggcctg
     1441 ggcgacgtgg atcctcctta ccacccacca ggccagattt acaggagaga gaaatccact
     1501 ccactcttcc ttaagccact gttattctga tctctgttaa ggtcgcagaa tcaatgccct
     1561 tactgataca cctaccttat aggactgaac ctaaaggcat gacatttcca tacttgtcac
     1621 aagcacacac tgattctgcc cttgtcactt ctgtgctcac tcttgtggct ctatcctcct
     1681 cctgcccttc cgccttccac tcctcccttg cacccatcct gcacacatct ccctgaaaac
     1741 acacaggcac atacactcat atacatagac acacatacac acctcaatct agaaagaact
     1801 tgctttgtac agggctgaga tggaggagaa aaaaatgccc ccttcagaat gcataccaag
     1861 gggaaggtgc tcggtcactg tgggagcagg gaaaggtgcc cccactcccc gagagccagg
     1921 ggaaggagtg gctctgggca gagagggaca catagcactg gggtggcagg tccttttgag
     1981 gtgatgggcc ggttttgtga gatgaattgt atcccccaaa aagacaggta ccttcaatgt
     2041 gacctaattg ggaaatagag tctttgcaga tgatctagtt gagatgaggt cattggggtg
     2101 ggccctcacc caatatgact ggagtcctta tcggaagagg gaaattcaga cacagatgca
     2161 tagggaggac accatgccgt gacagaggca gagggtgcag tgacacagcc acaaaccaag
     2221 gaaggccgag gatggatgcg catccccatc ccaagaagtc gggaagaagc caggaaggct
     2281 cctctcccac aggtttcaga ggaagcacag ccctgcttga attcaaactt ttggcctcca
     2341 gaactgtgag tcagtacctg ttgttgaagc cacccagctt aggatactct ggcagcctac
     2401 tgccatacag tattgggata ctatagtgag cccatgcagc acctctcacc cacccagaga
     2461 tggagctgct ctgccttcca gcggggcacc cggagggctg ccccagcaga tagagagggc
     2521 ctccgttctg ccacctgcct tgaaagggtc tccagctgcc atatgtagca ttggagtcct
     2581 ctgcaatgcg acatcctgaa agctcagctg cctgggcatt cctgaagagt atggaatatt
     2641 taaatgaaac atattttttt aaaacctgcg cataagataa aagcagcccg tgtgcatctt
     2701 gggccatcct caaatggaca gacttggtct tgtgaggttc cagtccttgt ttcacataat
     2761 aaacactggc atggctcagc ccctgagtta ccacagtcct tgagatgagt ggttctttgg
     2821 gttacaaagt cctctgaaag tctagtgaga gctgtgatct ttgccccacc cgaataatgc
     2881 atatggacac cacaccttgc ctgccgtgtc caggattcat gaccagtagc agcccagcta
     2941 tgcctgccac gtctcacggc ccctgtgtaa gccagaccct tcttaggcag ttgcatattc
     3001 ccagactgag gcagggcagg tttgcagaga gagacccaga gtgcacgtga cccgcagtgt
     3061 gatccctggc acgcactgac tttgatattc caggcacacg gactggctat ttatcaccac
     3121 ttctttttcc ccactaagat tcctgtgcct tttaaggcag agggagatcc ctatggcgtt
     3181 agtcttccca ggccttaaag ggcccttgtc ttcactcaca aacctcttat ctcttcttct
     3241 ccttcctcta cattttaaag ggggagaggg aaaagtaacc gggagacaaa ttgagccaca
     3301 tattttcaga cacttgttac catattttaa aatctggctt cacatacaca gagtctttgc
     3361 tatgcaccat gtactgttct aagcttctta aaaatagaat ctcaattatt attttgcagg
     3421 caatactcta tgcattcatt agctaggaca acaatgcatt tgcagtagtg agatttcgct
     3481 aaaaaattaa agccatttac tatga
//
