LOCUS       NM_005472               3064 bp    mRNA    linear   PRI 07-DEC-2024
DEFINITION  Homo sapiens potassium voltage-gated channel subfamily E regulatory
            subunit 3 (KCNE3), mRNA.
ACCESSION   NM_005472
VERSION     NM_005472.5
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 3064)
  AUTHORS   Campbell,C., Faleel,F.D.M., Scheyer,M.W., Haralu,S., Williams,P.L.,
            Carbo,W.D., Wilson-Taylor,A.S., Patel,N.H., Sanders,C.R.,
            Lorigan,G.A. and Sahu,I.D.
  TITLE     Comparing the structural dynamics of the human KCNE3 in
            reconstituted micelle and lipid bilayered vesicle environments
  JOURNAL   Biochim Biophys Acta Biomembr 1864 (10), 183974 (2022)
   PUBMED   35716725
  REMARK    GeneRIF: Comparing the structural dynamics of the human KCNE3 in
            reconstituted micelle and lipid bilayered vesicle environments.
REFERENCE   2  (bases 1 to 3064)
  AUTHORS   Abbott,G.W.
  TITLE     Regulation of human cardiac potassium channels by full-length KCNE3
            and KCNE4
  JOURNAL   Sci Rep 6, 38412 (2016)
   PUBMED   27922120
  REMARK    GeneRIF: Regulation of human cardiac potassium channels by
            full-length KCNE3 and KCNE4 has been reported.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3064)
  AUTHORS   Kroncke,B.M., Van Horn,W.D., Smith,J., Kang,C., Welch,R.C.,
            Song,Y., Nannemann,D.P., Taylor,K.C., Sisco,N.J., George,A.L. Jr.,
            Meiler,J., Vanoye,C.G. and Sanders,C.R.
  TITLE     Structural basis for KCNE3 modulation of potassium recycling in
            epithelia
  JOURNAL   Sci Adv 2 (9), e1501228 (2016)
   PUBMED   27626070
  REMARK    GeneRIF: Structural, computational, biochemical, and
            electrophysiological studies lead to an atomically explicit
            integrative structural model of the KCNE3-KCNQ1 complex that
            explains how KCNE3 induces the constitutive activation of KCNQ1
            channel activity, a crucial component in K(+) recycling.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3064)
  AUTHORS   Abbott,G.W.
  TITLE     Novel exon 1 protein-coding regions N-terminally extend human KCNE3
            and KCNE4
  JOURNAL   FASEB J 30 (8), 2959-2969 (2016)
   PUBMED   27162025
  REMARK    GeneRIF: Reported here are previously undiscovered protein-coding
            regions in exon 1 of hKCNE3 and hKCNE4 that extend their encoded
            extracellular domains by 44 and 51 residues, which yields
            full-length proteins of 147 and 221 residues, respectively.
REFERENCE   5  (bases 1 to 3064)
  AUTHORS   Li,Y.J., Jin,Z.G. and Xu,X.R.
  TITLE     Variants in the KCNE1 or KCNE3 gene and risk of Meniere's disease:
            A meta-analysis
  JOURNAL   J Vestib Res 25 (5-6), 211-218 (2016)
   PUBMED   26890422
  REMARK    GeneRIF: Based on current evidence from published studies, neither
            of the two variants from KCNE was significantly associated with the
            risk of Meniere's disease--{REVIEW}
            Review article
REFERENCE   6  (bases 1 to 3064)
  AUTHORS   Melman,Y.F., Domenech,A., de la Luna,S. and McDonald,T.V.
  TITLE     Structural determinants of KvLQT1 control by the KCNE family of
            proteins
  JOURNAL   J Biol Chem 276 (9), 6439-6444 (2001)
   PUBMED   11104781
REFERENCE   7  (bases 1 to 3064)
  AUTHORS   Abbott,G.W., Butler,M.H., Bendahhou,S., Dalakas,M.C., Ptacek,L.J.
            and Goldstein,S.A.
  TITLE     MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is
            associated with periodic paralysis
  JOURNAL   Cell 104 (2), 217-231 (2001)
   PUBMED   11207363
REFERENCE   8  (bases 1 to 3064)
  AUTHORS   Schroeder,B.C., Waldegger,S., Fehr,S., Bleich,M., Warth,R.,
            Greger,R. and Jentsch,T.J.
  TITLE     A constitutively open potassium channel formed by KCNQ1 and KCNE3
  JOURNAL   Nature 403 (6766), 196-199 (2000)
   PUBMED   10646604
REFERENCE   9  (bases 1 to 3064)
  AUTHORS   Abbott,G.W., Sesti,F., Splawski,I., Buck,M.E., Lehmann,M.H.,
            Timothy,K.W., Keating,M.T. and Goldstein,S.A.
  TITLE     MiRP1 forms IKr potassium channels with HERG and is associated with
            cardiac arrhythmia
  JOURNAL   Cell 97 (2), 175-187 (1999)
   PUBMED   10219239
REFERENCE   10 (bases 1 to 3064)
  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 DQ192291.1 and AP001372.4.
            
            On Mar 31, 2020 this sequence version replaced NM_005472.4.
            
            Summary: Voltage-gated potassium (Kv) channels represent the most
            complex class of voltage-gated ion 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. This gene encodes a member of
            the potassium channel, voltage-gated, isk-related subfamily. This
            member is a type I membrane protein, and a beta subunit that
            assembles with a potassium channel alpha-subunit to modulate the
            gating kinetics and enhance stability of the multimeric complex.
            This gene is prominently expressed in the kidney. A missense
            mutation in this gene is associated with hypokalemic periodic
            paralysis. [provided by RefSeq, Jul 2008].
            
            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 :: SRR11853564.5482.1,
                                           SRR11853558.4508.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000310128.9/ ENSP00000310557.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-639               DQ192291.1         1-639
            640-3064            AP001372.4         23441-25865         c
FEATURES             Location/Qualifiers
     source          1..3064
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     gene            1..3064
                     /gene="KCNE3"
                     /gene_synonym="BRGDA6; HOKPP; HYPP; MiRP2"
                     /note="potassium voltage-gated channel subfamily E
                     regulatory subunit 3"
                     /db_xref="GeneID:10008"
                     /db_xref="HGNC:HGNC:6243"
                     /db_xref="MIM:604433"
     exon            1..152
                     /gene="KCNE3"
                     /gene_synonym="BRGDA6; HOKPP; HYPP; MiRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            153..301
                     /gene="KCNE3"
                     /gene_synonym="BRGDA6; HOKPP; HYPP; MiRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            302..3064
                     /gene="KCNE3"
                     /gene_synonym="BRGDA6; HOKPP; HYPP; MiRP2"
                     /inference="alignment:Splign:2.1.0"
     CDS             342..653
                     /gene="KCNE3"
                     /gene_synonym="BRGDA6; HOKPP; HYPP; MiRP2"
                     /note="minimum potassium ion channel-related peptide 2;
                     minK-related peptide 2; voltage-gated K+ channel subunit
                     MIRP2; cardiac voltage-gated potassium channel accessory
                     subunit; potassium channel subunit beta MiRP2; potassium
                     voltage-gated channel, Isk-related family, member 3;
                     potassium channel, voltage gated subfamily E regulatory
                     beta subunit 3"
                     /codon_start=1
                     /product="potassium voltage-gated channel subfamily E
                     member 3"
                     /protein_id="NP_005463.1"
                     /db_xref="CCDS:CCDS8232.1"
                     /db_xref="GeneID:10008"
                     /db_xref="HGNC:HGNC:6243"
                     /db_xref="MIM:604433"
                     /translation="METTNGTETWYESLHAVLKALNATLHSNLLCRPGPGLGPDNQTE
                     ERRASLPGRDDNSYMYILFVMFLFAVTVGSLILGYTRSRKVDKRSDPYHVYIKNRVSM
                     I"
     regulatory      897..902
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNE3"
                     /gene_synonym="BRGDA6; HOKPP; HYPP; MiRP2"
                     /note="hexamer: TATAAA"
     polyA_site      924
                     /gene="KCNE3"
                     /gene_synonym="BRGDA6; HOKPP; HYPP; MiRP2"
                     /note="major polyA site"
     regulatory      2815..2820
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNE3"
                     /gene_synonym="BRGDA6; HOKPP; HYPP; MiRP2"
                     /note="hexamer: AATAAA"
     polyA_site      2838
                     /gene="KCNE3"
                     /gene_synonym="BRGDA6; HOKPP; HYPP; MiRP2"
                     /note="major polyA site"
     regulatory      3046..3051
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNE3"
                     /gene_synonym="BRGDA6; HOKPP; HYPP; MiRP2"
                     /note="hexamer: AATAAA"
     polyA_site      3064
                     /gene="KCNE3"
                     /gene_synonym="BRGDA6; HOKPP; HYPP; MiRP2"
ORIGIN      
        1 agagccagag agcgcgctgg gcggtgctgg gcacccgcgg agtggaacgg ggctggtgga
       61 atgcacaggg tcgcagcgct tgggccaccc tcggtcagag ggcgccgtgt ccagcgagca
      121 aacgggcgcc ccggagcctt gctgagaggc agctctgggc tttcccagct ccgaagtcaa
      181 tactgagatc ccagatgtgt ccagagacat cctgaagagg ctcgggggtg gaggagcctt
      241 agtgtgtcca caaagggact cctgaaactg actgagagcc agtggatttg ccagcagtct
      301 gagcttctac cgagtcttcc cccacctcaa tccctgttgc tatggagact accaatggaa
      361 cggagacctg gtatgagagc ctgcatgccg tgctgaaggc tctaaatgcc actcttcaca
      421 gcaatttgct ctgccggcca gggccagggc tggggccaga caaccagact gaagagaggc
      481 gggccagcct acctggccgt gatgacaact cctacatgta cattctcttt gtcatgtttc
      541 tatttgctgt aactgtgggc agcctcatcc tgggatacac ccgctcccgc aaagtggaca
      601 agcgtagtga cccctatcat gtgtatatca agaaccgtgt gtctatgatc taacacgaga
      661 gggctgggac ggtggaagac caagacacct ggggattgcg tctggggcct ccagaactct
      721 gctgtggact gcatcaggtc tcagtgtccc tatctgtaag atcaacaaga aacacggtta
      781 agggaggtcg tcactggggt gggagaagag gggctggtag accgaagcct tgtgcataag
      841 gattttttcc caggaaaaga tagactttat aaacagtggg agcccatgaa caaacatata
      901 aaagtagcaa cagataatga ccaataactg gttcagtggc tggagtatta ggggcctggg
      961 gattggagaa cggagaagaa gttgtagcag agggaaatga gacaggaaga tgctctgggg
     1021 acacattttt tatgtgttat cttcagccat gagaagcagt gatgactatc ccatatcaca
     1081 gatatgattt accaccacca ccctgccccc gctcccgtga agaaagcagg gcaagtgctg
     1141 tgctgcccat ttgggcctgc atagtgccat gattggaacc caggaactct ggtctccttg
     1201 cctagtgctt ttcaaaactc tgtgctacac aggagtggat ccaggcctga aggtcataca
     1261 attctgggga ctctctttaa gaaaaagaat tctaaaatat cttacttttg caaacattat
     1321 gaaaatatac tgccacatta atatgttgct agggcccctg ctaggacctt aagaaggagc
     1381 tcatgtgagt caggaccctg aatgttaggc ctcgttagct ctatggttca tatgcttctt
     1441 gaaccaagtc acagggcact tcccagccac attgccaggc aacaggacta aactacctcc
     1501 aaagcaagca gtcttttcag ttttgactga gtgatgtgag aaacttcttt tcttttcttt
     1561 tctttttttt tttttgagac agtctcccta tgtcacccag gctgtggtgc agcaacccaa
     1621 tcttggctca ctgcaacccc cacctcccgg gttcaagcaa ttatcctgcc tcagccacct
     1681 gagtagctgg gattacaggt tcctgtcacc acacccagtt aatttatata tatatatata
     1741 tatatatatt taagtagaga cagggtttca catgttgccc aggctggtct cgaactcctg
     1801 tcctcaagtt atctgcccat tttggtctcc caaagtgctg ggattacaag tgtaagccac
     1861 cacgactatc tgagagaagt tttctgatgt catgttgaat ctgcttctaa aagactgata
     1921 ctgccaaggt gggcggatca cctgaggtca ggagttcgag accagcctgg ccaacatggt
     1981 gaaaccccat ctactaaaaa aatacaaaaa ttagccagac ctggtggcgg gtgcccgtat
     2041 tcccagctac ttgggaggct gaggcaggag aattgtttga acccgggagg tggaggttgc
     2101 agtaagccaa gatcacgcca ctgcactcca gcctgggtga cagagcaagg ctctgtctca
     2161 aaaaaaaaca aaaacaaaaa caaaaaagac tgatatcgca cctaaattat tattatatta
     2221 aaagaagcag agtatgagag acaggtacat ggtccagtag gaagagaagc agccctgatt
     2281 ctaccactta aggtgatgta tgatcttagg ctggacactt ctctccctca tccgttttcc
     2341 tcttcaacat aatgaaatag acttgaaagt ctctaaggct ctatcagttc tgacattcta
     2401 ggcttcatat acattaagtt gagccatatg taatcactgt gtttgtaggt tagaaacagc
     2461 tgagtatcgt agtttcatat atggttccag ctaatacatg caatgtggct ggtgaacact
     2521 tctgaattca gaaactatcc cagatctcag ctagaaccat ccactgttct gtttgtccag
     2581 tttcaactta agggatctcc atgcggtccc tggaagtacc cattgaaaca tgcgtatttg
     2641 tgtatagcag aactctgaaa taatattctg acagcagtta tctctgagga attgggttat
     2701 aggtgatttt ccctttccgc atgataaatt tatgtaatat ttgactgact tgaccgtaag
     2761 tatgttactt gtataataaa aggaaaaaag gtacttctat tttgaaaaaa taaaaataaa
     2821 agcctttggg ttcttgaatg gaggatcatg gaacacattt gctgccatat gcagttatgt
     2881 tgatgctctg caaacctgtg ctgagccctg ttgctcaagc ccttcctcat ctcttcttga
     2941 gggagaaggt ggagacttcc ttaaggagat gtgacatatg ggaagacaac agattcagaa
     3001 atttacgtgg ataggacttt agacaccacc cagcccaaac ttccaaataa aatatggaac
     3061 gcaa
//
