LOCUS       NM_000218               3224 bp    mRNA    linear   PRI 07-DEC-2024
DEFINITION  Homo sapiens potassium voltage-gated channel subfamily Q member 1
            (KCNQ1), transcript variant 1, mRNA.
ACCESSION   NM_000218
VERSION     NM_000218.3
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 3224)
  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 3224)
  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 3224)
  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 3224)
  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 3224)
  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 3224)
  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 3224)
  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 3224)
  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 3224)
  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 3224)
  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 AF000571.1, AI439544.1,
            BC017074.1 and AI473902.1.
            
            On Aug 31, 2019 this sequence version replaced NM_000218.2.
            
            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].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            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 :: AF000571.1, U89364.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            imprinted gene         :: PMID: 9020845, 19617707
            MANE Ensembl match     :: ENST00000155840.12/ ENSP00000155840.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-369               AF000571.1         20-388
            370-370             AI439544.1         37-37
            371-2600            AF000571.1         390-2619
            2601-2996           BC017074.1         1659-2054
            2997-3224           AI473902.1         22-249              c
FEATURES             Location/Qualifiers
     source          1..3224
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5-p15.4"
     gene            1..3224
                     /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..2122
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /note="isoform 1 is encoded by transcript variant 1;
                     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 1"
                     /protein_id="NP_000209.2"
                     /db_xref="CCDS:CCDS7736.1"
                     /db_xref="GeneID:3784"
                     /db_xref="HGNC:HGNC:6294"
                     /db_xref="MIM:607542"
                     /translation="MAAASSPPRAERKRWGWGRLPGARRGSAGLAKKCPFSLELAEGG
                     PAGGALYAPIAPGAPGPAPPASPAAPAAPPVASDLGPRPPVSLDPRVSIYSTRRPVLA
                     RTHVQGRVYNFLERPTGWKCFVYHFAVFLIVLVCLIFSVLSTIEQYAALATGTLFWME
                     IVLVVFFGTEYVVRLWSAGCRSKYVGLWGRLRFARKPISIIDLIVVVASMVVLCVGSK
                     GQVFATSAIRGIRFLQILRMLHVDRQGGTWRLLGSVVFIHRQELITTLYIGFLGLIFS
                     SYFVYLAEKDAVNESGRVEFGSYADALWWGVVTVTTIGYGDKVPQTWVGKTIASCFSV
                     FAISFFALPAGILGSGFALKVQQKQRQKHFNRQIPAAASLIQTAWRCYAAENPDSSTW
                     KIYIRKAPRSHTLLSPSPKPKKSVVVKKKKFKLDKDNGVTPGEKMLTVPHITCDPPEE
                     RRLDHFSVDGYDSSVRKSPTLLEVSMPHFMRTNSFAEDLDLEGETLLTPITHISQLRE
                     HHRATIKVIRRMQYFVAKKKFQQARKPYDVRDVIEQYSQGHLNLMVRIKELQRRLDQS
                     IGKPSLFISVSEKSKDRGSNTIGARLNRVEDKVTQLDQRLALITDMLHQLLSLHGGST
                     PGSGGPPREGGAHITQPCGSGGSVDPELFLPSNTLPTYEQLTVPRRGPDEGS"
     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..1219
                     /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            1220..1342
                     /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            1343..1484
                     /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            1485..1605
                     /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            1606..1681
                     /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            1682..1776
                     /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            1777..1823
                     /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            1824..1885
                     /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            1886..3224
                     /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      3091..3096
                     /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      3110
                     /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      3224
                     /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 gcggggattc ttggctcggg
     1141 gtttgccctg aaggtgcagc agaagcagag gcagaagcac ttcaaccggc agatcccggc
     1201 ggcagcctca ctcattcaga ccgcatggag gtgctatgct gccgagaacc ccgactcctc
     1261 cacctggaag atctacatcc ggaaggcccc ccggagccac actctgctgt cacccagccc
     1321 caaacccaag aagtctgtgg tggtaaagaa aaaaaagttc aagctggaca aagacaatgg
     1381 ggtgactcct ggagagaaga tgctcacagt cccccatatc acgtgcgacc ccccagaaga
     1441 gcggcggctg gaccacttct ctgtcgacgg ctatgacagt tctgtaagga agagcccaac
     1501 actgctggaa gtgagcatgc cccatttcat gagaaccaac agcttcgccg aggacctgga
     1561 cctggaaggg gagactctgc tgacacccat cacccacatc tcacagctgc gggaacacca
     1621 tcgggccacc attaaggtca ttcgacgcat gcagtacttt gtggccaaga agaaattcca
     1681 gcaagcgcgg aagccttacg atgtgcggga cgtcattgag cagtactcgc agggccacct
     1741 caacctcatg gtgcgcatca aggagctgca gaggaggctg gaccagtcca ttgggaagcc
     1801 ctcactgttc atctccgtct cagaaaagag caaggatcgc ggcagcaaca cgatcggcgc
     1861 ccgcctgaac cgagtagaag acaaggtgac gcagctggac cagaggctgg cactcatcac
     1921 cgacatgctt caccagctgc tctccttgca cggtggcagc acccccggca gcggcggccc
     1981 ccccagagag ggcggggccc acatcaccca gccctgcggc agtggcggct ccgtcgaccc
     2041 tgagctcttc ctgcccagca acaccctgcc cacctacgag cagctgaccg tgcccaggag
     2101 gggccccgat gaggggtcct gaggagggga tggggctggg ggatgggcct gagtgagagg
     2161 ggaggccaag agtggcccca cctggccctc tctgaaggag gccacctcct aaaaggccca
     2221 gagagaagag ccccactctc agaggcccca ataccccatg gaccatgctg tctggcacag
     2281 cctgcacttg ggggctcagc aaggccacct cttcctggcc ggtgtggggg ccccgtctca
     2341 ggtctgagtt gttaccccaa gcgccctggc ccccacatgg tgatgttgac atcactggca
     2401 tggtggttgg gacccagtgg cagggcacag ggcctggccc atgtatggcc aggaagtagc
     2461 acaggctgag tgcaggccca ccctgcttgg cccagggggc ttcctgaggg gagacagagc
     2521 aacccctgga ccccagcctc aaatccagga ccctgccagg cacaggcagg gcaggaccag
     2581 cccacgctga ctacagggcc gccggcaata aaagcccagg agcccatttg gagggcctgg
     2641 gcctggctcc ctcactctca ggaaatgctg acccatgggc aggagactgt ggagactgct
     2701 cctgagcccc cagcttccag caggagggac agtctcacca tttccccagg gcacgtggtt
     2761 gagtgggggg aacgcccact tccctgggtt agactgccag ctcttcctag ctggagagga
     2821 gccctgcctc tccgcccctg agcccactgt gcgtggggct cccgcctcca acccctcgcc
     2881 cagtcccagc agccagccaa acacacagaa ggggactgcc acctcccctt gccagctgct
     2941 gagccgcaga gaagtgacgg ttcctacaca ggacaggggt tccttctggg cattacatcg
     3001 catagaaatc aataatttgt ggtgatttgg atctgtgttt taatgagttt cacagtgtga
     3061 ttttgattat taattgtgca agcttttcct aataaacgtg gagaatcaca ggctgggctg
     3121 ggcactgctc tcaccttggt tcctggggca tccatggggt ctctcacaga caggacccct
     3181 gcagttcccc tggaagcagt gcccaggtgg ctgtggaata ggaa
//
