LOCUS       NM_001199661             940 bp    mRNA    linear   PRI 03-APR-2024
DEFINITION  Homo sapiens PMF1-BGLAP readthrough (PMF1-BGLAP), transcript
            variant 1, mRNA.
ACCESSION   NM_001199661
VERSION     NM_001199661.1
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 940)
  AUTHORS   Woo,D., Falcone,G.J., Devan,W.J., Brown,W.M., Biffi,A.,
            Howard,T.D., Anderson,C.D., Brouwers,H.B., Valant,V., Battey,T.W.,
            Radmanesh,F., Raffeld,M.R., Baedorf-Kassis,S., Deka,R., Woo,J.G.,
            Martin,L.J., Haverbusch,M., Moomaw,C.J., Sun,G., Broderick,J.P.,
            Flaherty,M.L., Martini,S.R., Kleindorfer,D.O., Kissela,B.,
            Comeau,M.E., Jagiella,J.M., Schmidt,H., Freudenberger,P.,
            Pichler,A., Enzinger,C., Hansen,B.M., Norrving,B.,
            Jimenez-Conde,J., Giralt-Steinhauer,E., Elosua,R.,
            Cuadrado-Godia,E., Soriano,C., Roquer,J., Kraft,P., Ayres,A.M.,
            Schwab,K., McCauley,J.L., Pera,J., Urbanik,A., Rost,N.S.,
            Goldstein,J.N., Viswanathan,A., Stogerer,E.M., Tirschwell,D.L.,
            Selim,M., Brown,D.L., Silliman,S.L., Worrall,B.B., Meschia,J.F.,
            Kidwell,C.S., Montaner,J., Fernandez-Cadenas,I., Delgado,P.,
            Malik,R., Dichgans,M., Greenberg,S.M., Rothwell,P.M., Lindgren,A.,
            Slowik,A., Schmidt,R., Langefeld,C.D. and Rosand,J.
  CONSRTM   International Stroke Genetics Consortium
  TITLE     Meta-analysis of genome-wide association studies identifies 1q22 as
            a susceptibility locus for intracerebral hemorrhage
  JOURNAL   Am J Hum Genet 94 (4), 511-521 (2014)
   PUBMED   24656865
REFERENCE   2  (bases 1 to 940)
  AUTHORS   Prakash,T., Sharma,V.K., Adati,N., Ozawa,R., Kumar,N., Nishida,Y.,
            Fujikake,T., Takeda,T. and Taylor,T.D.
  TITLE     Expression of conjoined genes: another mechanism for gene
            regulation in eukaryotes
  JOURNAL   PLoS One 5 (10), e13284 (2010)
   PUBMED   20967262
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL135927.14 and CD388852.1.
            
            Summary: This locus represents naturally occurring read-through
            transcription between the neighboring PMF1 (polyamine-modulated
            factor 1) and BGLAP (bone gamma-carboxyglutamate Gla protein) genes
            on chromosome 1. Alternative splicing results in multiple
            transcript variants encoding isoforms that share sequence identity
            with the upstream gene product, but they contain distinct C-termini
            due to frameshifts versus the downstream gene coding sequence.
            [provided by RefSeq, Dec 2010].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.299710.1, CD388852.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            readthrough transcript :: includes exons from GeneID 632, 11243
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-80                AL135927.14        100676-100755
            81-251              CD388852.1         81-251
            252-252             AL135927.14        120070-120070
            253-675             CD388852.1         253-675
            676-940             AL135927.14        130756-131020
FEATURES             Location/Qualifiers
     source          1..940
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     gene            1..940
                     /gene="PMF1-BGLAP"
                     /gene_synonym="PMF-1; PMF1"
                     /note="PMF1-BGLAP readthrough"
                     /db_xref="GeneID:100527963"
                     /db_xref="HGNC:HGNC:42953"
     exon            1..189
                     /gene="PMF1-BGLAP"
                     /gene_synonym="PMF-1; PMF1"
                     /inference="alignment:Splign:2.1.0"
     CDS             29..691
                     /gene="PMF1-BGLAP"
                     /gene_synonym="PMF-1; PMF1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     polyamine-modulated factor 1"
                     /codon_start=1
                     /product="PMF1-BGLAP protein isoform 1"
                     /protein_id="NP_001186590.1"
                     /db_xref="GeneID:100527963"
                     /db_xref="HGNC:HGNC:42953"
                     /translation="MAEASSANLGSGCEEKRHEGSSSESVPPGTTISRVKLLDTMVDT
                     FLQKLVAAGSYQRFTDCYKCFYQLQPAMTQQIYDKFIAQLQTSIREEISDIKEEGNLE
                     AVLNALDKIVEEGKVRKEPACNGTPCGAMCRNRRPRTSSWQMPSWQGGGRWRSCSYRS
                     RPSSRPGRCEAQRCRVQQRCSLCVQAGGQRGSEETQALPVSMAGSPSPLPGSPGAQEG
                     GV"
     exon            190..295
                     /gene="PMF1-BGLAP"
                     /gene_synonym="PMF-1; PMF1"
                     /inference="alignment:Splign:2.1.0"
     exon            296..396
                     /gene="PMF1-BGLAP"
                     /gene_synonym="PMF-1; PMF1"
                     /inference="alignment:Splign:2.1.0"
     exon            397..531
                     /gene="PMF1-BGLAP"
                     /gene_synonym="PMF-1; PMF1"
                     /inference="alignment:Splign:2.1.0"
     exon            532..570
                     /gene="PMF1-BGLAP"
                     /gene_synonym="PMF-1; PMF1"
                     /inference="alignment:Splign:2.1.0"
     exon            571..640
                     /gene="PMF1-BGLAP"
                     /gene_synonym="PMF-1; PMF1"
                     /inference="alignment:Splign:2.1.0"
     exon            641..940
                     /gene="PMF1-BGLAP"
                     /gene_synonym="PMF-1; PMF1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      906..911
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PMF1-BGLAP"
                     /gene_synonym="PMF-1; PMF1"
                     /note="hexamer: AATAAA"
     polyA_site      925
                     /gene="PMF1-BGLAP"
                     /gene_synonym="PMF-1; PMF1"
                     /note="major polyA site"
ORIGIN      
        1 cagttagatt tggaggttca acttcaacat ggccgaagca agtagcgcca atctaggcag
       61 cggctgtgag gaaaaaaggc atgaggggtc gtcttcggaa tctgtgccac ccggcactac
      121 catttcgagg gtgaagctcc tcgacaccat ggtggacact tttcttcaga agctggtcgc
      181 cgccggcagc taccagagat tcactgactg ctataagtgc ttctaccagt tgcagcctgc
      241 gatgacacag caaatctatg acaagtttat agctcagttg cagacatcta tccgggagga
      301 aatctctgac atcaaagagg aggggaacct agaagctgtc ttgaatgcct tggataaaat
      361 tgtggaagaa ggcaaagtcc gcaaagagcc agcctgcaac gggacaccct gcggcgccat
      421 gtgcagaaac aggaggccga gaaccagcag ctggcagatg ccgtcctggc agggcggagg
      481 caggtggagg agctgcagct acaggtccag gcccagcagc aggcctggca ggtgcgaagc
      541 ccagcggtgc agagtccagc aaaggtgcag cctttgtgtc caagcaggag ggcagcgagg
      601 tagtgaagag acccaggcgc tacctgtatc aatggctggg agccccagtc ccctacccgg
      661 atcccctgga gcccaggagg gaggtgtgtg agctcaatcc ggactgtgac gagttggctg
      721 accacatcgg ctttcaggag gcctatcggc gcttctacgg cccggtctag ggtgtcgctc
      781 tgctggcctg gccggcaacc ccagttctgc tcctctccag gcacccttct ttcctcttcc
      841 ccttgccctt gccctgacct cccagcccta tggatgtggg gtccccatca tcccagctgc
      901 tcccaaataa actccagaag aggaatctgt gggcctgtga
//
