LOCUS       NM_001308491            2774 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens endogenous retrovirus group 48 member 1, envelope
            (ERVH48-1), mRNA.
ACCESSION   NM_001308491
VERSION     NM_001308491.2
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 2774)
  AUTHORS   Sugimoto,J., Schust,D.J., Sugimoto,M., Jinno,Y. and Kudo,Y.
  TITLE     Controlling Trophoblast Cell Fusion in the Human
            Placenta-Transcriptional Regulation of Suppressyn, an Endogenous
            Inhibitor of Syncytin-1
  JOURNAL   Biomolecules 13 (11), 1627 (2023)
   PUBMED   38002309
  REMARK    GeneRIF: Controlling Trophoblast Cell Fusion in the Human
            Placenta-Transcriptional Regulation of Suppressyn, an Endogenous
            Inhibitor of Syncytin-1.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2774)
  AUTHORS   Roberts,R.M., Ezashi,T., Schulz,L.C., Sugimoto,J., Schust,D.J.,
            Khan,T. and Zhou,J.
  TITLE     Syncytins expressed in human placental trophoblast
  JOURNAL   Placenta 113, 8-14 (2021)
   PUBMED   33504453
  REMARK    Review article
REFERENCE   3  (bases 1 to 2774)
  AUTHORS   Sugimoto,J., Schust,D.J., Kinjo,T., Aoki,Y., Jinno,Y. and Kudo,Y.
  TITLE     Suppressyn localization and dynamic expression patterns in primary
            human tissues support a physiologic role in human placentation
  JOURNAL   Sci Rep 9 (1), 19502 (2019)
   PUBMED   31862915
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2774)
  AUTHORS   Malfavon-Borja,R. and Feschotte,C.
  TITLE     Fighting fire with fire: endogenous retrovirus envelopes as
            restriction factors
  JOURNAL   J Virol 89 (8), 4047-4050 (2015)
   PUBMED   25653437
  REMARK    Review article
REFERENCE   5  (bases 1 to 2774)
  AUTHORS   Sugimoto,J., Sugimoto,M., Bernstein,H., Jinno,Y. and Schust,D.
  TITLE     A novel human endogenous retroviral protein inhibits cell-cell
            fusion
  JOURNAL   Sci Rep 3, 1462 (2013)
   PUBMED   23492904
REFERENCE   6  (bases 1 to 2774)
  AUTHORS   Mayer,J., Blomberg,J. and Seal,R.L.
  TITLE     A revised nomenclature for transcribed human endogenous retroviral
            loci
  JOURNAL   Mob DNA 2 (1), 7 (2011)
   PUBMED   21542922
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2774)
  AUTHORS   Kudaka,W., Oda,T., Jinno,Y., Yoshimi,N. and Aoki,Y.
  TITLE     Cellular localization of placenta-specific human endogenous
            retrovirus (HERV) transcripts and their possible implication in
            pregnancy-induced hypertension
  JOURNAL   Placenta 29 (3), 282-289 (2008)
   PUBMED   18158183
REFERENCE   8  (bases 1 to 2774)
  AUTHORS   Okahara,G., Matsubara,S., Oda,T., Sugimoto,J., Jinno,Y. and
            Kanaya,F.
  TITLE     Expression analyses of human endogenous retroviruses (HERVs):
            tissue-specific and developmental stage-dependent expression of
            HERVs
  JOURNAL   Genomics 84 (6), 982-990 (2004)
   PUBMED   15533715
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001629.1.
            
            On Nov 6, 2020 this sequence version replaced NM_001308491.1.
            
            Summary: Many different endogenous retrovirus families are
            expressed in normal placental tissue at high levels, suggesting
            that endogenous retroviruses are functionally important in
            reproduction. This gene is part of an endogenous retrovirus
            provirus that has placenta specific expression. The protein encoded
            has the characteristics of a retroviral envelope protein but is
            truncated and lacks the transmembrane domain. The protein inhibits
            cell fusion by competing with syncytin-1 for binding to a cell
            receptor. [provided by RefSeq, May 2015].
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC005107.1, AB610407.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142363, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            endogenous retrovirus  :: PMID: 23492904
            MANE Ensembl match     :: ENST00000447535.2/ ENSP00000504647.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-285               AP001629.1         75343-75627         c
            286-2774            AP001629.1         66800-69288         c
FEATURES             Location/Qualifiers
     source          1..2774
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..2774
                     /gene="ERVH48-1"
                     /gene_synonym="C21orf105; NDUFV3-AS1; SUPYN"
                     /note="endogenous retrovirus group 48 member 1, envelope"
                     /db_xref="GeneID:90625"
                     /db_xref="HGNC:HGNC:17216"
     exon            1..285
                     /gene="ERVH48-1"
                     /gene_synonym="C21orf105; NDUFV3-AS1; SUPYN"
                     /inference="alignment:Splign:2.1.0"
     exon            286..2774
                     /gene="ERVH48-1"
                     /gene_synonym="C21orf105; NDUFV3-AS1; SUPYN"
                     /inference="alignment:Splign:2.1.0"
     CDS             571..1053
                     /gene="ERVH48-1"
                     /gene_synonym="C21orf105; NDUFV3-AS1; SUPYN"
                     /note="NDUFV3 antisense RNA 1 (non-protein coding);
                     suppressyn; endogenous retrovirus group Fb member 1;
                     suppresyn; endogenous retrovirus group 48, member 1"
                     /codon_start=1
                     /product="suppressyn precursor"
                     /protein_id="NP_001295420.1"
                     /db_xref="CCDS:CCDS93101.1"
                     /db_xref="GeneID:90625"
                     /db_xref="HGNC:HGNC:17216"
                     /translation="MACIYPTTFYTSLPTKSLNMGISLTTILILSVAVLLSTAAPPSC
                     RECYQSLHYRGEMQQYFTYHTHIERSCYGNLIEECVESGKSYYKVKNLGVCGSRNGAI
                     CPRGKQWLCFTKIGQWGVNTQVLEDIKREQIIAKAKASKPTTPPENRPRHFHSFIQKL
                     "
     regulatory      2753..2758
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERVH48-1"
                     /gene_synonym="C21orf105; NDUFV3-AS1; SUPYN"
                     /note="hexamer: ATTAAA"
     polyA_site      2774
                     /gene="ERVH48-1"
                     /gene_synonym="C21orf105; NDUFV3-AS1; SUPYN"
                     /note="major polyA site"
ORIGIN      
        1 gctgatgcca ttctaggcct cagtctgtct gcatccaggt gcttattaaa acagtgtgtt
       61 gctccacacc gcctcgtgtt gtctgttggc gcgctctccg ggttccaacc aatgcaagag
      121 ccttggggct ggccctgaaa cctgcgaggg gcttccgtcc acgtccccag tggacctacc
      181 acccctccat ctgggaaagc aggccacagc agccggacaa aggaagctcc tcagcctcta
      241 gtcgcctctc tgtgcatgca catcggtcac tgatctcgcc tactggcaca gacgtgttta
      301 tcggccaaac tgaccctcac aaaaagctac caccgaagtg gacaggcccc tacactgtga
      361 tactcagcac accaactgca gtgagagtcc gaggactccc caactggatc catcgcacca
      421 gggtcaagct cacccccaag gcagcttctt cctccaaaac attaacagct aagtgtttgt
      481 ctgggccaat ttctcctacc aagtttaaat taaccaacat ttttttctta aaaccaaaac
      541 acaaggaaga ctaaccacgt gcttccagga atggcctgta tctacccaac cactttctat
      601 acctctcttc caaccaaaag tcttaatatg ggaatatccc tcaccacgat cctaatactg
      661 tcagtagctg tcctgctgtc cacagcagcc cctccgagct gccgtgagtg ttatcagtct
      721 ttgcactaca gaggggagat gcaacaatac tttacttacc atactcatat agaaagatcc
      781 tgttatggaa acttaatcga ggaatgtgtt gaatcaggaa agagttatta taaagtaaag
      841 aatctaggag tatgtggcag tcgtaatggg gctatttgcc ccagagggaa gcagtggctt
      901 tgcttcacca aaattggaca atggggagta aacactcagg tgcttgagga cataaagaga
      961 gaacagatta tagccaaagc caaagcctca aaaccaacaa ctccccctga aaatcgcccg
     1021 cggcatttcc attcctttat acaaaaacta taagcagatg catcccttcc taagccagga
     1081 aaaaatctgt ttgtagatct aggagaacca ttgtgcttac catgaatgtg tccaattgtt
     1141 gggtatgcgg gggagcttta tgagtgaaca gtggctgtgg gacgggatag acattccccc
     1201 ttacttacag gcatcccaaa accccagact cactttcact cctcaggaat gcccgcagtc
     1261 ctggacactt accaacccag tatgagggac ggtgtgcata tcccgcaagt ggactgataa
     1321 aacccatcgc gccgtaggtg aaaacccgtc accaaaccct aacagtcaat gcctccatag
     1381 ctgagtggtg gccaaggtta ccccctggag cctggtctcc ttctaactta agctacctca
     1441 attgtgtctt gtcaaaaaag gcctggtact gtacgaacac cactaaccct tatgccgcat
     1501 acctccgcct aagtgtacta tgcgacaatc ctaggaacac cagctgacaa tggactgcca
     1561 ctgacggatt cctgtggata tggggaaccc aggcttactc acagctacct tatcactggc
     1621 aaggtacttg cttcctaggc acaattcaac ctggattctt tttacttccg aagcaggcgg
     1681 gcaacaccct cagagtccct gtgtatgata accagagaaa aatgatcctt ggaggtagga
     1741 gggagccaaa gattgtgaga ggacgagtgg cctctgcaac ggatcattga atactatggt
     1801 cctgccactt gggcagagga tggttcatgg ggttatcgca ctcccatata tatgccaaat
     1861 agagcgatta gactacaagc tgttctagag ataatcacta accaaactgc ctcagcccta
     1921 gaaatgctcg cgcaacaaca aaaccaaatg cgcgcggcaa tttatcaaaa caggctggcc
     1981 ctagactact tattagcaga agagggtgcg ggctgtggta agtttaacat ctccaattgc
     2041 tgtcttaaca taggcaataa tggagaagag gttctggaaa tcgcttcaaa catcagaaaa
     2101 gtagcccgtg taccagtcca aacctgggag ggatgggacc cagcaaacct tctaggaggg
     2161 tggttctcta atttaggagg atttaaaatg ctggtgggga cagtcatttt catcactggg
     2221 gtcctcctgt ttctcccctg tggtatccca ttaaaactct tgttgaaact acagttaacc
     2281 tcctgacaat ccagatgatg ctcctgctac agcggcacga tggataccaa cccgtctctc
     2341 aagaataccc caaaaattaa gtttttcttt ttccaaggtg cccacgccac ccctatgtca
     2401 cgcctgaagt agttattgag aaagtcgtcc ctttcccctt ttctataacc aaatagacag
     2461 gaatggaaga ttctcctcgg ggcctgaaag cttgcgggat gaataactcc tcctcctcag
     2521 gcccagtccc aaggtacaaa cttgcaccag cagcaagata gcagaggcag gaagagagct
     2581 ggctggaaga cacgtacccc ctgaagatca agagggaggt cgccctggta ctacatagca
     2641 gtcacgttag gctgggacaa ttcctgttta cagaggacta taaaacccct gccccatcct
     2701 cacttggggc tgatgccatt ttaggcctca gcctgtctgc atgcaggcgc tcattaaaac
     2761 agcatgttgc tcca
//
