LOCUS       NM_001330065            3223 bp    mRNA    linear   PRI 24-FEB-2025
DEFINITION  Homo sapiens potassium voltage-gated channel subfamily E regulatory
            subunit 1B (LOC102723475), transcript variant 1, mRNA.
ACCESSION   NM_001330065 XM_006723949
VERSION     NM_001330065.1
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 3223)
  AUTHORS   Pantou,M.P., Gourzi,P. and Degiannis,D.
  TITLE     The potential presence of the highly similar paralogue gene KCNE1B
            blurs the genetic basis of KCNE1-LQTS patients
  JOURNAL   Eur J Hum Genet 27 (8), 1175-1177 (2019)
   PUBMED   30936463
  REMARK    GeneRIF: Data suggest that the presence of two potentially active
            genes potassium voltage-gated channel subfamily E regulatory
            subunit 1 (KCNE1) and potassium voltage-gated channel subfamily E
            regulatory subunit 1B (KCNE1B) needs to be clarified for the
            inheritance pattern of long QT syndrome (LQT5).
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CU633980.13.
            
            On Aug 15, 2016 this sequence version replaced XM_006723949.2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments. NM_001330065 is annotated on a
            scaffold that is thought to be a false duplication and thus this
            accession is likely redundant with NM_001127668.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DA307693.1, AK311384.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-116               CU633980.13        85817-85932         c
            117-227             CU633980.13        84942-85052         c
            228-3223            CU633980.13        72977-75972         c
FEATURES             Location/Qualifiers
     source          1..3223
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21p11.2"
     gene            1..3223
                     /gene="LOC102723475"
                     /gene_synonym="KCNE1B"
                     /note="potassium voltage-gated channel subfamily E
                     regulatory subunit 1B"
                     /db_xref="GeneID:102723475"
     exon            1..116
                     /gene="LOC102723475"
                     /gene_synonym="KCNE1B"
                     /inference="alignment:Splign:2.1.0"
     exon            117..227
                     /gene="LOC102723475"
                     /gene_synonym="KCNE1B"
                     /inference="alignment:Splign:2.1.0"
     exon            228..3223
                     /gene="LOC102723475"
                     /gene_synonym="KCNE1B"
                     /inference="alignment:Splign:2.1.0"
     CDS             269..667
                     /gene="LOC102723475"
                     /gene_synonym="KCNE1B"
                     /note="potassium channel, voltage gated subfamily E
                     regulatory beta subunit 1B; potassium voltage-gated
                     channel subfamily E member 1B"
                     /codon_start=1
                     /product="putative potassium voltage-gated channel
                     subfamily E member 1B"
                     /protein_id="NP_001316994.1"
                     /db_xref="GeneID:102723475"
                     /translation="MPRMILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSGDGK
                     LEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNVYIESNAWQEKDKAYVQARV
                     LESYRSCYVVENHLAIEQPNTHLPETKPSP"
     regulatory      3204..3209
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LOC102723475"
                     /gene_synonym="KCNE1B"
                     /note="hexamer: ATTAAA"
     polyA_site      3223
                     /gene="LOC102723475"
                     /gene_synonym="KCNE1B"
                     /note="major polyA site"
ORIGIN      
        1 gtgcagcgct caggccctta gaaggtgccg ccccggggcg gggctgtctg tggcctcagc
       61 gctcggcagg cgcgcactca gctccacacc cggctctctc ggcatctcag acccgggaaa
      121 aatccctctg ctttctctgg ccagtttcac acaatcatca ggtgagccga ggatccattg
      181 gaggaaggca ttatctgtat ccagaggaaa tagccaagga tattcagagg tgtgcctggg
      241 aagtttgagc tgcagcagtg gaaccttaat gcccaggatg atcctgtcta acaccacagc
      301 ggtgacgccc tttctgacca agctgtggca ggagacagtt cagcagggtg gcaacatgtc
      361 gggcctggcc cgcaggtccc cccgcagcgg tgacggcaag ctggaggccc tctacgtcct
      421 catggtactg ggattcttcg gcttcttcac cctgggcatc atgctgagct acatccgctc
      481 caagaagctg gagcactcga acgacccatt caacgtctac atcgagtcca atgcctggca
      541 agagaaggac aaggcctatg tccaggcccg ggtcctggag agctacaggt cgtgctatgt
      601 cgttgaaaac catctggcca tagaacaacc caacacacac cttcctgaga cgaagccttc
      661 cccatgaacc ccaccactgg ctaaaactgg acacatcctg cctggcaacc tgattttcta
      721 atcacattcc tctcatactc tttattgtga tggataccac tggatttctt tttggctgtt
      781 gtaaggggtg gggggtggat taatgacact gtttcactgt ttctctaaaa tcacgttctt
      841 ttgtgataga ctgtcagtgg ttcccccata tctgtccctg ccttgctaaa tttagcagaa
      901 tccctgagga catggcctct gagaatagca gctgcatttc ccagactccc ttgcagctag
      961 caaggttgtg tgactaagcc ctggccagta ggcatggaag tgaagactgt aatgtccaag
     1021 taatccttgg aaagaaaaga acgtgccctt aactaacttt gtcctgcttc ccagtggctg
     1081 gatgtggagg aggtggagag cagttatgag actgggaaag aatggggcac tcaaagagcc
     1141 acacacatct gggcctgggc gacgtggatc ctccttacca cccaccaggc cagatttaca
     1201 ggagagagaa atccactcca ctcttcctta agccactgtt attctgatct ctgttaaggt
     1261 cgcagaatca atgcccttac tgatacacct accttatagg actgaaccta aaggcatgac
     1321 atttccatac ttgtcacaag cacacactga ttctgccctt gtcacttctg tgctcactct
     1381 tgtggctcta tcctcctcct gcccttccgc cttccactcc tcccttgcac ccatcctgca
     1441 cacatctccc tgaaaacaca caggcacata cactcatata catagacaca catacacacc
     1501 tcaatctaga aagaacttgc tttgtacagg gctgagatgg aggagaaaaa aatgccccct
     1561 tcagaatgca taccaagggg aaggtgctcg gtcactgtgg gagcagggaa aggtgccccc
     1621 actccccgag agccagggga aggagtggct ctgggcagag agggacacat agcactgggg
     1681 tggcaggtcc ttttgaggtg atgggccggt tttgtgagat gaattgtatc ccccaaaaag
     1741 acaggtacct tcaatgtgac ctaattggga aatagagtct ttgcagatga tctagttgag
     1801 atgaggtcat tggggtgggc cctcacccaa tatgactgga gtccttatcg gaagagggaa
     1861 attcagacac agatgcatag ggagggcacc atgccgtgac agaggcagag ggtgcagtga
     1921 cacagccaca aaccaaggaa ggccgaggat ggatgcgcat ccccatccca agaagtcggg
     1981 aagaagccag gaaggctcct ctcccacagg tttcagagga agcacagccc tgcttgaatt
     2041 caaacttttg gcctccagaa ctgtgagtca gtacctgttg ttgaagccac ccagcttagg
     2101 atactctggc agcctactgc catacagtat tgggatacta tagtgagccc atgcagcacc
     2161 tctcacccac ccagagatgg agctgctctg ccttccagcg gggcacccgg aggggctgcc
     2221 ccagcagata gagagggcct ccgttctgcc acctgccttg aaagggtctc cagctgccat
     2281 atgtagcatt ggagtcctct gcaatgcgac atcctgaaag ctcagctgcc tgggcattcc
     2341 tgaagagtat ggaatattta aatgaaacat atttttttaa aacctgcgca taagataaaa
     2401 gcagcccgtg tgcatcttgg gccatcctca aatggacaga cttggtcttg tgaggttcca
     2461 gtccttgttt cacataataa acactggcat ggctcagccc ctgagttacc acagtccttg
     2521 agatgagtgg ttctttgggt tacaaagtcc tctgaaagtc tagtgagagc tgtgatcttt
     2581 gccccacccg aataatgcat atggacacca caccttgcct gccgtgtcca ggattcatga
     2641 ccagtagcag cccagctatg cctgccacgt ctcacggccc ctgtgtaagc cagacccttc
     2701 ttaggcagtt gcatattccc agactgaggc agggcaggtt tgcagagaga gacccagagt
     2761 gcacgtgacc cgcagtgtga tccctggcac gcactgactt tgatattcca ggcacacgga
     2821 ctggctattt atcaccactt ctttttcccc actaagattc ctgtgccttt taaggcagag
     2881 ggagatccct atggcgttag tcttcccagg ccttaaaggg cccttgtctt cactcacaaa
     2941 cctcttatct cttcttctcc ttcctctaca ttttaaaggg ggagagggaa aagtaaccgg
     3001 gagacaaatt gagccacata ttttcagaca cttgttacca tattttaaaa tctggcttca
     3061 catacacaga gtctttgcta tgcaccatgt actgttctaa gcttcttaaa aatagaatct
     3121 caattattat tttgcaggca atactctgtg cattcattag ctaggacaac aatgcatttg
     3181 cagtagtgag atttcgttaa aaaattaaag ccatttacta tga
//
