LOCUS       NM_207582               3191 bp    mRNA    linear   PRI 30-OCT-2024
DEFINITION  Homo sapiens endogenous retrovirus group FRD member 1, envelope
            (ERVFRD-1), mRNA.
ACCESSION   NM_207582
VERSION     NM_207582.3
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 3191)
  AUTHORS   Gruchot,J., Lewen,I., Dietrich,M., Reiche,L., Sindi,M., Hecker,C.,
            Herrero,F., Charvet,B., Weber-Stadlbauer,U., Hartung,H.P.,
            Albrecht,P., Perron,H., Meyer,U. and Kury,P.
  TITLE     Transgenic expression of the HERV-W envelope protein leads to
            polarized glial cell populations and a neurodegenerative
            environment
  JOURNAL   Proc Natl Acad Sci U S A 120 (38), e2308187120 (2023)
   PUBMED   37695891
  REMARK    GeneRIF: Transgenic expression of the HERV-W envelope protein leads
            to polarized glial cell populations and a neurodegenerative
            environment.
REFERENCE   2  (bases 1 to 3191)
  AUTHORS   Talotta,R.
  TITLE     Interaction between Long Noncoding RNAs and Syncytin-1/Syncytin-2
            Genes and Transcripts: How Noncoding RNAs May Affect Pregnancy in
            Patients with Systemic Lupus Erythematosus
  JOURNAL   Int J Mol Sci 24 (3), 2259 (2023)
   PUBMED   36768581
  REMARK    GeneRIF: Interaction between Long Noncoding RNAs and
            Syncytin-1/Syncytin-2 Genes and Transcripts: How Noncoding RNAs May
            Affect Pregnancy in Patients with Systemic Lupus Erythematosus.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3191)
  AUTHORS   Martinez-Molledo,M., Nji,E. and Reyes,N.
  TITLE     Structural insights into the lysophospholipid brain uptake
            mechanism and its inhibition by syncytin-2
  JOURNAL   Nat Struct Mol Biol 29 (6), 604-612 (2022)
   PUBMED   35710838
  REMARK    GeneRIF: Structural insights into the lysophospholipid brain uptake
            mechanism and its inhibition by syncytin-2.
REFERENCE   4  (bases 1 to 3191)
  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   5  (bases 1 to 3191)
  AUTHORS   Garcia-Montojo,M. and Nath,A.
  TITLE     HERV-W envelope expression in blood leukocytes as a marker of
            disease severity of COVID-19
  JOURNAL   EBioMedicine 67, 103363 (2021)
   PUBMED   33993053
  REMARK    GeneRIF: HERV-W envelope expression in blood leukocytes as a marker
            of disease severity of COVID-19.
REFERENCE   6  (bases 1 to 3191)
  AUTHORS   Renard,M., Varela,P.F., Letzelter,C., Duquerroy,S., Rey,F.A. and
            Heidmann,T.
  TITLE     Crystal structure of a pivotal domain of human syncytin-2, a 40
            million years old endogenous retrovirus fusogenic envelope gene
            captured by primates
  JOURNAL   J Mol Biol 352 (5), 1029-1034 (2005)
   PUBMED   16140326
  REMARK    GeneRIF: The crystal structure of a central fragment of syncytin 2
            'fossil' ectodomain is reported, allowing a remarkable
            superposition with the structures of the corresponding domains of
            present-day infectious retroviruses
REFERENCE   7  (bases 1 to 3191)
  AUTHORS   Villesen,P., Aagaard,L., Wiuf,C. and Pedersen,F.S.
  TITLE     Identification of endogenous retroviral reading frames in the human
            genome
  JOURNAL   Retrovirology 1, 32 (2004)
   PUBMED   15476554
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 3191)
  AUTHORS   Blaise,S., Ruggieri,A., Dewannieux,M., Cosset,F.L. and Heidmann,T.
  TITLE     Identification of an envelope protein from the FRD family of human
            endogenous retroviruses (HERV-FRD) conferring infectivity and
            functional conservation among simians
  JOURNAL   J Virol 78 (2), 1050-1054 (2004)
   PUBMED   14694139
REFERENCE   9  (bases 1 to 3191)
  AUTHORS   Blaise,S., de Parseval,N., Benit,L. and Heidmann,T.
  TITLE     Genomewide screening for fusogenic human endogenous retrovirus
            envelopes identifies syncytin 2, a gene conserved on primate
            evolution
  JOURNAL   Proc Natl Acad Sci U S A 100 (22), 13013-13018 (2003)
   PUBMED   14557543
REFERENCE   10 (bases 1 to 3191)
  AUTHORS   de Parseval,N., Lazar,V., Casella,J.F., Benit,L. and Heidmann,T.
  TITLE     Survey of human genes of retroviral origin: identification and
            transcriptome of the genes with coding capacity for complete
            envelope proteins
  JOURNAL   J Virol 77 (19), 10414-10422 (2003)
   PUBMED   12970426
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC068585.1 and AL136139.6.
            
            On Nov 23, 2018 this sequence version replaced NM_207582.2.
            
            Summary: Many different human endogenous retrovirus (HERV) families
            are expressed in normal placental tissue at high levels, suggesting
            that HERVs are functionally important in reproduction. This gene is
            part of a human endogenous retrovirus provirus on chromosome 6 that
            has inactivating mutations in the gag and pol genes. This gene is
            the envelope glycoprotein gene which appears to have been
            selectively preserved. The gene's protein product plays a major
            role in placental development and trophoblast fusion. The protein
            has the characteristics of a typical retroviral envelope protein,
            including a cleavage site that separates the surface (SU) and
            transmembrane (TM) proteins which form a heterodimer. [provided by
            RefSeq, Jun 2012].
            
            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 :: BC068585.1, AK123938.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            endogenous retrovirus  :: PMID: 14557543
            MANE Ensembl match     :: ENST00000472091.2/ ENSP00000420174.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2222              BC068585.1         2-2223
            2223-2851           AL136139.6         20491-21119         c
            2852-3191           BC068585.1         2853-3192
FEATURES             Location/Qualifiers
     source          1..3191
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p24.2"
     gene            1..3191
                     /gene="ERVFRD-1"
                     /gene_synonym="envFRD; ERVFRDE1; GLLL6191; HERV-FRD;
                     HERV-W/FRD; UNQ6191"
                     /note="endogenous retrovirus group FRD member 1, envelope"
                     /db_xref="GeneID:405754"
                     /db_xref="HGNC:HGNC:33823"
                     /db_xref="MIM:610524"
     exon            1..49
                     /gene="ERVFRD-1"
                     /gene_synonym="envFRD; ERVFRDE1; GLLL6191; HERV-FRD;
                     HERV-W/FRD; UNQ6191"
                     /inference="alignment:Splign:2.1.0"
     exon            50..3191
                     /gene="ERVFRD-1"
                     /gene_synonym="envFRD; ERVFRDE1; GLLL6191; HERV-FRD;
                     HERV-W/FRD; UNQ6191"
                     /inference="alignment:Splign:2.1.0"
     CDS             370..1986
                     /gene="ERVFRD-1"
                     /gene_synonym="envFRD; ERVFRDE1; GLLL6191; HERV-FRD;
                     HERV-W/FRD; UNQ6191"
                     /note="HERV-FRD_6p24.1 provirus ancestral Env polyprotein;
                     syncytin 2; HERV-FRD provirus ancestral Env polyprotein;
                     envelope polyprotein; endogenous retrovirus group FRD,
                     member 1"
                     /codon_start=1
                     /product="syncytin-2 preproprotein"
                     /protein_id="NP_997465.1"
                     /db_xref="CCDS:CCDS4519.1"
                     /db_xref="GeneID:405754"
                     /db_xref="HGNC:HGNC:33823"
                     /db_xref="MIM:610524"
                     /translation="MGLLLLVLILTPSLAAYRHPDFPLLEKAQQLLQSTGSPYSTNCW
                     LCTSSSTETPGTAYPASPREWTSIEAELHISYRWDPNLKGLMRPANSLLSTVKQDFPD
                     IRQKPPIFGPIFTNINLMGIAPICVMAKRKNGTNVGTLPSTVCNVTFTVDSNQQTYQT
                     YTHNQFRHQPRFPKPPNITFPQGTLLDKSSRFCQGRPSSCSTRNFWFRPADYNQCLQI
                     SNLSSTAEWVLLDQTRNSLFWENKTKGANQSQTPCVQVLAGMTIATSYLGISAVSEFF
                     GTSLTPLFHFHISTCLKTQGAFYICGQSIHQCLPSNWTGTCTIGYVTPDIFIAPGNLS
                     LPIPIYGNSPLPRVRRAIHFIPLLAGLGILAGTGTGIAGITKASLTYSQLSKEIANNI
                     DTMAKALTTMQEQIDSLAAVVLQNRRGLDMLTAAQGGICLALDEKCCFWVNQSGKVQD
                     NIRQLLNQASSLRERATQGWLNWEGTWKWFSWVLPLTGPLVSLLLLLLFGPCLLNLIT
                     QFVSSRLQAIKLQTNLSAGRHPRNIQESPF"
     regulatory      3170..3175
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERVFRD-1"
                     /gene_synonym="envFRD; ERVFRDE1; GLLL6191; HERV-FRD;
                     HERV-W/FRD; UNQ6191"
                     /note="hexamer: AATAAA"
     polyA_site      3191
                     /gene="ERVFRD-1"
                     /gene_synonym="envFRD; ERVFRDE1; GLLL6191; HERV-FRD;
                     HERV-W/FRD; UNQ6191"
                     /note="major polyA site"
ORIGIN      
        1 gcacttggat ctctcaaatg gtgcagtgac tcggatacct tccctagtgc cattacagta
       61 ctggagactg ccagctagat ccatcacacc caagtgaagc tgtggaaaag cccttaaact
      121 ccagagccag aaccagcaac ctcagctccg gaatacactt gcaaggcact ggaagatcta
      181 aaattcctct ttaaacaaaa agataagtaa tgccccacca acatcctttc acctcaaagt
      241 aaggtgatcc caatactaga aattttactg gcaattgctc tgattgttat cactatttta
      301 accctaactt gtacaccacc aggagttcca ttggcagctc gttttgtgac cagtttctct
      361 taggtcacca tgggcctgct cctgctggtt ctcattctca cgccttcact agcagcctac
      421 cgccatcctg atttcccgtt attggaaaaa gctcagcaac tgctccaaag tacaggatcc
      481 ccttactcca ccaattgctg gttatgtact agctcttcca ctgaaacacc agggacagct
      541 tatccagcct cgcccagaga atggacaagc atagaggcgg aattacatat ttcctatcga
      601 tgggacccta atctgaaagg actgatgagg cctgcaaata gtcttctttc aacagtaaag
      661 caagatttcc ctgatatccg ccagaaacct cccattttcg gacccatctt tactaatatc
      721 aacctaatgg gaatagcccc tatttgtgtt atggccaaaa ggaaaaatgg aacaaatgta
      781 ggcactcttc caagtacagt ctgtaatgtt actttcactg tagattctaa ccaacagact
      841 taccaaacat acacccacaa ccaattccgc catcaaccaa gattccccaa acctccaaat
      901 attacttttc ctcagggaac tttgctagat aaatccagcc ggttttgcca gggacgccca
      961 agctcatgca gtactcgaaa cttctggttc cggcctgctg attataacca atgtctgcaa
     1021 atttccaacc tcagctctac agcggaatgg gttctattgg accaaactcg aaattctctt
     1081 ttttgggaaa ataaaaccaa gggagctaac cagagccaaa caccctgcgt ccaagtctta
     1141 gcaggcatga ctatagccac cagctacctg ggcatatcag cagtctcaga attttttgga
     1201 acctccctca cccccttatt tcatttccat atctctacat gccttaaaac tcaaggagcc
     1261 ttttatattt gtggccagtc gattcaccaa tgcctcccca gtaactggac tggaacttgt
     1321 accataggct atgtaacccc agacatcttc atagcccctg gcaatctctc tcttccaata
     1381 ccaatctatg ggaattcccc gttgcccagg gtgaggaggg caatccattt cattcccctt
     1441 ctcgcgggac tcggcattct agctggtacg ggaaccggaa ttgctggaat cacaaaagct
     1501 tccctcacct atagccagct ctcaaaggaa atagccaaca acattgacac catggctaaa
     1561 gccttaacga ccatgcaaga acaaatcgac tctttagcag ccgtagtcct tcaaaatcgt
     1621 cgaggactag acatgttaac ggcagcacag ggaggaattt gtttggcctt agatgaaaaa
     1681 tgttgctttt gggtaaatca atcaggaaaa gtacaagaca acatcagaca actcctaaat
     1741 caagcctcca gtttacggga acgagccact cagggttggt taaattggga aggaacttgg
     1801 aaatggttct cttgggttct tccccttaca ggcccacttg ttagtctcct acttttgctc
     1861 ctttttggtc catgtctcct aaatctaata acccaatttg tctcctctcg ccttcaggcc
     1921 ataaagctcc agacgaatct cagtgcagga cgccatcctc gcaatattca agagtcaccc
     1981 ttctaaggag gacccctaga ctgctcgcta gtggaacacg acagaggcga aatcctgccc
     2041 cgtctcccgt ggacctggct ggatatggtt tttgccaatc cacagagcca tcctgccctg
     2101 acagctagca agaggccaag acccacagaa caaccactac agcccctctg tcagcaggaa
     2161 gcagttaaag aagactgacc ttcgtccatt ttcccagata attgggtctt ggactcttga
     2221 gggggggaaa tgttggagca ggtagctagt cagacatgag cagggcaggg gagggccccc
     2281 tcaccaggaa tgtcaggcaa ccatcaggtg atggtgaggc agttgttaag ctgtgtctct
     2341 aacataataa tgagtggcag ctggcgccag ggaacgatgg cctcccaata gataggaaac
     2401 acctgaagct ggtgatcagc cacttcctga taagatctca ggagttgggt gcgcaggctc
     2461 aagcatgcac cctaagaggc aaaatagtgg catttaactc atatatgacc ttcctttagg
     2521 aaggcttgac tggtaaggga aaaactcctc cagtgaacac gtgcacaact tcagtaaaaa
     2581 cactgcacat gcgtcccctc ccaagtgctg gcaggccact gtgcatgcag acagcccgcc
     2641 ccaaagaaaa atcagaggag gagaaatgga aaccccggaa caatgccaat gtataaaacc
     2701 ccaagtcaag ggcctaccaa ggcaattgga tctctcaagt cacccgcttg gctctcttca
     2761 agtgcacttt gcttcctttt gttcttgctc taaaactttt actcctgcta taaaacttgc
     2821 cttggactat catgctacct tacgcctccc cggccaaatt ccctcctctc ctccgggggg
     2881 caaggatgga gtctgctgca gacccattgg atttgctgct ggtaacagtt ccaccattta
     2941 ggttccagca ccaagcaaac taacacccga ctcagtgtaa acagccaaac aagcttaacc
     3001 aattagaaac caccatctaa cctctaacta ggtcctttca actttaacca agtattttct
     3061 ttgtcttgct tctgtgggaa ccttataaaa ttttccccct tgtacctctg tagtagagac
     3121 ccagttgctt gcagtttggc cctgcctgtt catgaatcac ccttgctcaa ataaactctc
     3181 taaaatgcta a
//
