LOCUS       NM_001406836            3128 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens potassium voltage-gated channel subfamily Q member 1
            (KCNQ1), transcript variant 3, mRNA.
ACCESSION   NM_001406836
VERSION     NM_001406836.1
KEYWORDS    RefSeq.
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 3128)
  AUTHORS   Ma,L., Ma,R., Ran,R., Li,J., Pan,X., Guo,Z., Lin,X., Wen,D., Wu,S.
            and Chen,Y.
  TITLE     Novel associations between KCNQ1 rs231840 polymorphism and
            preeclampsia in Chinese gestational women: A case-control candidate
            genetic study
  JOURNAL   Medicine (Baltimore) 103 (41), e39778 (2024)
   PUBMED   39465874
  REMARK    GeneRIF: Novel associations between KCNQ1 rs231840 polymorphism and
            preeclampsia in Chinese gestational women: A case-control candidate
            genetic study.
REFERENCE   2  (bases 1 to 3128)
  AUTHORS   Li,B., Karlova,M., Zhang,H., Pustovit,O.B., Mai,L.,
            Novoseletsky,V., Podolyak,D., Zaklyazminskaya,E.V.,
            Abramochkin,D.V. and Sokolova,O.S.
  TITLE     A mutation in the cardiac KV7.1 channel possibly disrupts
            interaction with Yotiao protein
  JOURNAL   Biochem Biophys Res Commun 714, 149947 (2024)
   PUBMED   38657442
  REMARK    GeneRIF: A mutation in the cardiac KV7.1 channel possibly disrupts
            interaction with Yotiao protein.
REFERENCE   3  (bases 1 to 3128)
  AUTHORS   Morgat,C., Fressart,V., Porretta,A.P., Neyroud,N., Messali,A.,
            Temmar,Y., Algalarrondo,V., Surget,E., Bloch,A., Leenhardt,A.,
            Denjoy,I. and Extramiana,F.
  TITLE     Genetic characterization of KCNQ1 variants improves risk
            stratification in type 1 long QT syndrome patients
  JOURNAL   Europace 26 (6) (2024)
   PUBMED   38825991
  REMARK    GeneRIF: Genetic characterization of KCNQ1 variants improves risk
            stratification in type 1 long QT syndrome patients.
REFERENCE   4  (bases 1 to 3128)
  AUTHORS   Mohammad,F., Mondal,T. and Kanduri,C.
  TITLE     Epigenetics of imprinted long noncoding RNAs
  JOURNAL   Epigenetics 4 (5), 277-286 (2009)
   PUBMED   19617707
  REMARK    Review article
REFERENCE   5  (bases 1 to 3128)
  AUTHORS   Lee,M.P., Hu,R.J., Johnson,L.A. and Feinberg,A.P.
  TITLE     Human KVLQT1 gene shows tissue-specific imprinting and encompasses
            Beckwith-Wiedemann syndrome chromosomal rearrangements
  JOURNAL   Nat Genet 15 (2), 181-185 (1997)
   PUBMED   9020845
  REMARK    GeneRIF: KCNQ1 gene is imprinted in a tissue-specific manner, with
            preferential expression from the maternal allele in some tissues,
            excluding cardiac muscle.
REFERENCE   6  (bases 1 to 3128)
  AUTHORS   de Jager,T., Corbett,C.H., Badenhorst,J.C., Brink,P.A. and
            Corfield,V.A.
  TITLE     Evidence of a long QT founder gene with varying phenotypic
            expression in South African families
  JOURNAL   J Med Genet 33 (7), 567-573 (1996)
   PUBMED   8818942
REFERENCE   7  (bases 1 to 3128)
  AUTHORS   Wang,Q., Curran,M.E., Splawski,I., Burn,T.C., Millholland,J.M.,
            VanRaay,T.J., Shen,J., Timothy,K.W., Vincent,G.M., de Jager,T.,
            Schwartz,P.J., Toubin,J.A., Moss,A.J., Atkinson,D.L., Landes,G.M.,
            Connors,T.D. and Keating,M.T.
  TITLE     Positional cloning of a novel potassium channel gene: KVLQT1
            mutations cause cardiac arrhythmias
  JOURNAL   Nat Genet 12 (1), 17-23 (1996)
   PUBMED   8528244
REFERENCE   8  (bases 1 to 3128)
  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 3128)
  AUTHORS   Shuman,C., Kalish,J.M. and Weksberg,R.
  TITLE     Beckwith-Wiedemann Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301568
REFERENCE   10 (bases 1 to 3128)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC124057.12, AC124055.6,
            AC021424.6 and AC013791.9.
            
            Summary: This gene encodes a voltage-gated potassium channel
            required for repolarization phase of the cardiac action potential.
            This protein can form heteromultimers with two other potassium
            channel proteins, KCNE1 and KCNE3. Mutations in this gene are
            associated with hereditary long QT syndrome 1 (also known as
            Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and
            familial atrial fibrillation. This gene exhibits tissue-specific
            imprinting, with preferential expression from the maternal allele
            in some tissues, and biallelic expression in others. This gene is
            located in a region of chromosome 11 amongst other imprinted genes
            that are associated with Beckwith-Wiedemann syndrome (BWS), and
            itself has been shown to be disrupted by chromosomal rearrangements
            in patients with BWS. Alternatively spliced transcript variants
            have been found for this gene. [provided by RefSeq, Aug 2011].
            
            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 :: SRR14038191.3773037.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            imprinted gene :: PMID: 9020845, 19617707
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-477               AC124057.12        94607-95083         c
            478-568             AC124057.12        12073-12163         c
            569-695             AC124055.6         128119-128245       c
            696-774             AC124055.6         127470-127548       c
            775-871             AC124055.6         126764-126860       c
            872-1012            AC124055.6         125887-126027       c
            1013-1123           AC124055.6         115328-115438       c
            1124-1246           AC124055.6         111181-111303       c
            1247-1388           AC124055.6         110019-110160       c
            1389-1509           AC021424.6         165804-165924       c
            1510-1585           AC013791.9         173464-173539       c
            1586-1680           AC013791.9         166329-166423       c
            1681-1727           AC013791.9         165351-165397       c
            1728-1789           AC013791.9         164346-164407       c
            1790-3128           AC013791.9         93278-94616         c
FEATURES             Location/Qualifiers
     source          1..3128
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5-p15.4"
     gene            1..3128
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /note="potassium voltage-gated channel subfamily Q member
                     1"
                     /db_xref="GeneID:3784"
                     /db_xref="HGNC:HGNC:6294"
                     /db_xref="MIM:607542"
     exon            1..477
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /inference="alignment:Splign:2.1.0"
     CDS             92..2026
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /note="isoform 3 is encoded by transcript variant 3;
                     kidney and cardiac voltage dependend K+ channel; slow
                     delayed rectifier channel subunit; voltage-gated potassium
                     channel subunit Kv7.1; potassium voltage-gated channel,
                     KQT-like subfamily, member 1; IKs producing slow
                     voltage-gated potassium channel subunit alpha KvLQT1;
                     potassium channel, voltage gated KQT-like subfamily Q,
                     member 1"
                     /codon_start=1
                     /product="potassium voltage-gated channel subfamily KQT
                     member 1 isoform 3"
                     /protein_id="NP_001393765.1"
                     /db_xref="GeneID:3784"
                     /db_xref="HGNC:HGNC:6294"
                     /db_xref="MIM:607542"
                     /translation="MAAASSPPRAERKRWGWGRLPGARRGSAGLAKKCPFSLELAEGG
                     PAGGALYAPIAPGAPGPAPPASPAAPAAPPVASDLGPRPPVSLDPRVSIYSTRRPVLA
                     RTHVQGRVYNFLERPTGWKCFVYHFAVFLIVLVCLIFSVLSTIEQYAALATGTLFWME
                     IVLVVFFGTEYVVRLWSAGCRSKYVGLWGRLRFARKPISIIDLIVVVASMVVLCVGSK
                     GQVFATSAIRGIRFLQILRMLHVDRQGGTWRLLGSVVFIHRQELITTLYIGFLGLIFS
                     SYFVYLAEKDAVNESGRVEFGSYADALWWGVVTVTTIGYGDKVPQTWVGKTIASCFSV
                     FAISFFALPATAWRCYAAENPDSSTWKIYIRKAPRSHTLLSPSPKPKKSVVVKKKKFK
                     LDKDNGVTPGEKMLTVPHITCDPPEERRLDHFSVDGYDSSVRKSPTLLEVSMPHFMRT
                     NSFAEDLDLEGETLLTPITHISQLREHHRATIKVIRRMQYFVAKKKFQQARKPYDVRD
                     VIEQYSQGHLNLMVRIKELQRRLDQSIGKPSLFISVSEKSKDRGSNTIGARLNRVEDK
                     VTQLDQRLALITDMLHQLLSLHGGSTPGSGGPPREGGAHITQPCGSGGSVDPELFLPS
                     NTLPTYEQLTVPRRGPDEGS"
     exon            478..568
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /inference="alignment:Splign:2.1.0"
     exon            569..695
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /inference="alignment:Splign:2.1.0"
     exon            696..774
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /inference="alignment:Splign:2.1.0"
     exon            775..871
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /inference="alignment:Splign:2.1.0"
     exon            872..1012
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1013..1123
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1124..1246
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1247..1388
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1389..1509
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1510..1585
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1586..1680
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1681..1727
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1728..1789
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1790..3128
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2995..3000
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /note="hexamer: AATAAA"
     polyA_site      3014
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /note="major polyA site"
     polyA_site      3128
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
ORIGIN      
        1 agtggctgcc cgcactgcgc ccgggcgctc gccttcgctg cagctcccgg tgccgccgct
       61 cgggccggcc ccccggcagg ccctcctcgt tatggccgcg gcctcctccc cgcccagggc
      121 cgagaggaag cgctggggtt ggggccgcct gccaggcgcc cggcggggca gcgcgggcct
      181 ggccaagaag tgccccttct cgctggagct ggcggagggc ggcccggcgg gcggcgcgct
      241 ctacgcgccc atcgcgcccg gcgccccagg tcccgcgccc cctgcgtccc cggccgcgcc
      301 cgccgcgccc ccagttgcct ccgaccttgg cccgcggccg ccggtgagcc tagacccgcg
      361 cgtctccatc tacagcacgc gccgcccggt gttggcgcgc acccacgtcc agggccgcgt
      421 ctacaacttc ctcgagcgtc ccaccggctg gaaatgcttc gtttaccact tcgccgtctt
      481 cctcatcgtc ctggtctgcc tcatcttcag cgtgctgtcc accatcgagc agtatgccgc
      541 cctggccacg gggactctct tctggatgga gatcgtgctg gtggtgttct tcgggacgga
      601 gtacgtggtc cgcctctggt ccgccggctg ccgcagcaag tacgtgggcc tctgggggcg
      661 gctgcgcttt gcccggaagc ccatttccat catcgacctc atcgtggtcg tggcctccat
      721 ggtggtcctc tgcgtgggct ccaaggggca ggtgtttgcc acgtcggcca tcaggggcat
      781 ccgcttcctg cagatcctga ggatgctaca cgtcgaccgc cagggaggca cctggaggct
      841 cctgggctcc gtggtcttca tccaccgcca ggagctgata accaccctgt acatcggctt
      901 cctgggcctc atcttctcct cgtactttgt gtacctggct gagaaggacg cggtgaacga
      961 gtcaggccgc gtggagttcg gcagctacgc agatgcgctg tggtgggggg tggtcacagt
     1021 caccaccatc ggctatgggg acaaggtgcc ccagacgtgg gtcgggaaga ccatcgcctc
     1081 ctgcttctct gtctttgcca tctccttctt tgcgctccca gcgaccgcat ggaggtgcta
     1141 tgctgccgag aaccccgact cctccacctg gaagatctac atccggaagg ccccccggag
     1201 ccacactctg ctgtcaccca gccccaaacc caagaagtct gtggtggtaa agaaaaaaaa
     1261 gttcaagctg gacaaagaca atggggtgac tcctggagag aagatgctca cagtccccca
     1321 tatcacgtgc gaccccccag aagagcggcg gctggaccac ttctctgtcg acggctatga
     1381 cagttctgta aggaagagcc caacactgct ggaagtgagc atgccccatt tcatgagaac
     1441 caacagcttc gccgaggacc tggacctgga aggggagact ctgctgacac ccatcaccca
     1501 catctcacag ctgcgggaac accatcgggc caccattaag gtcattcgac gcatgcagta
     1561 ctttgtggcc aagaagaaat tccagcaagc gcggaagcct tacgatgtgc gggacgtcat
     1621 tgagcagtac tcgcagggcc acctcaacct catggtgcgc atcaaggagc tgcagaggag
     1681 gctggaccag tccattggga agccctcact gttcatctcc gtctcagaaa agagcaagga
     1741 tcgcggcagc aacacgatcg gcgcccgcct gaaccgagta gaagacaagg tgacgcagct
     1801 ggaccagagg ctggcactca tcaccgacat gcttcaccag ctgctctcct tgcacggtgg
     1861 cagcaccccc ggcagcggcg gcccccccag agagggcggg gcccacatca cccagccctg
     1921 cggcagtggc ggctccgtcg accctgagct cttcctgccc agcaacaccc tgcccaccta
     1981 cgagcagctg accgtgccca ggaggggccc cgatgagggg tcctgaggag gggatggggc
     2041 tgggggatgg gcctgagtga gaggggaggc caagagtggc cccacctggc cctctctgaa
     2101 ggaggccacc tcctaaaagg cccagagaga agagccccac tctcagaggc cccaataccc
     2161 catggaccat gctgtctggc acagcctgca cttgggggct cagcaaggcc acctcttcct
     2221 ggccggtgtg ggggccccgt ctcaggtctg agttgttacc ccaagcgccc tggcccccac
     2281 atggtgatgt tgacatcact ggcatggtgg ttgggaccca gtggcagggc acagggcctg
     2341 gcccatgtat ggccaggaag tagcacaggc tgagtgcagg cccaccctgc ttggcccagg
     2401 gggcttcctg aggggagaca gagcaacccc tggaccccag cctcaaatcc aggaccctgc
     2461 caggcacagg cagggcagga ccagcccacg ctgactacag ggccgccggc aataaaagcc
     2521 caggagccca tttggagggc ctgggcctgg ctccctcact ctcaggaaat gctgacccat
     2581 gggcaggaga ctgtggagac tgctcctgag cccccagctt ccagcaggag ggacagtctc
     2641 accatttccc cagggcacgt ggttgagtgg ggggaacgcc cacttccctg ggttagactg
     2701 ccagctcttc ctagctggag aggagccctg cctctccgcc cctgagccca ctgtgcgtgg
     2761 ggctcccgcc tccaacccct cgcccagtcc cagcagccag ccaaacacac agaaggggac
     2821 tgccacctcc ccttgccagc tgctgagccg cagagaagtg acggttccta cacaggacag
     2881 gggttccttc tgggcattac atcgcataga aatcaataat ttgtggtgat ttggatctgt
     2941 gttttaatga gtttcacagt gtgattttga ttattaattg tgcaagcttt tcctaataaa
     3001 cgtggagaat cacaggctgg gctgggcact gctctcacct tggttcctgg ggcatccatg
     3061 gggtctctca cagacaggac ccctgcagtt cccctggaag cagtgcccag gtggctgtgg
     3121 aataggaa
//
