LOCUS       NM_001130925            2794 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens endogenous retrovirus group W member 1, envelope
            (ERVW-1), transcript variant 2, mRNA.
ACCESSION   NM_001130925
VERSION     NM_001130925.2
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 2794)
  AUTHORS   Zhang,D., Wu,X., Xue,X., Li,W., Zhou,P., Lv,Z., Zhao,K. and Zhu,F.
  TITLE     Ancient dormant virus remnant ERVW-1 drives ferroptosis via
            degradation of GPX4 and SLC3A2 in schizophrenia
  JOURNAL   Virol Sin 39 (1), 31-43 (2024)
   PUBMED   37690733
  REMARK    GeneRIF: Ancient dormant virus remnant ERVW-1 drives ferroptosis
            via degradation of GPX4 and SLC3A2 in schizophrenia.
REFERENCE   2  (bases 1 to 2794)
  AUTHORS   Xue,X., Wu,X., Liu,L., Liu,L. and Zhu,F.
  TITLE     ERVW-1 Activates ATF6-Mediated Unfolded Protein Response by
            Decreasing GANAB in Recent-Onset Schizophrenia
  JOURNAL   Viruses 15 (6), 1298 (2023)
   PUBMED   37376599
  REMARK    GeneRIF: ERVW-1 Activates ATF6-Mediated Unfolded Protein Response
            by Decreasing GANAB in Recent-Onset Schizophrenia.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2794)
  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   4  (bases 1 to 2794)
  AUTHORS   Yao,W., Zhou,P., Yan,Q., Wu,X., Xia,Y., Li,W., Li,X. and Zhu,F.
  TITLE     ERVWE1 Reduces Hippocampal Neuron Density and Impairs Dendritic
            Spine Morphology through Inhibiting Wnt/JNK Non-Canonical Pathway
            via miR-141-3p in Schizophrenia
  JOURNAL   Viruses 15 (1), 168 (2023)
   PUBMED   36680208
  REMARK    GeneRIF: ERVWE1 Reduces Hippocampal Neuron Density and Impairs
            Dendritic Spine Morphology through Inhibiting Wnt/JNK Non-Canonical
            Pathway via miR-141-3p in Schizophrenia.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2794)
  AUTHORS   Zhuang,X., Qian,J., Xia,X., Wang,Y., Wang,H., Jing,L., Zhang,Y. and
            Zhang,Y.
  TITLE     Serum circulating free DNA of syncytin-1 as a novel molecular
            marker for early diagnosis of non-small-cell lung cancer
  JOURNAL   Biomark Med 16 (18), 1259-1268 (2022)
   PUBMED   36861469
  REMARK    GeneRIF: Serum circulating free DNA of syncytin-1 as a novel
            molecular marker for early diagnosis of non-small-cell lung cancer.
REFERENCE   6  (bases 1 to 2794)
  AUTHORS   Blond,J.L., Lavillette,D., Cheynet,V., Bouton,O., Oriol,G.,
            Chapel-Fernandes,S., Mandrand,B., Mallet,F. and Cosset,F.L.
  TITLE     An envelope glycoprotein of the human endogenous retrovirus HERV-W
            is expressed in the human placenta and fuses cells expressing the
            type D mammalian retrovirus receptor
  JOURNAL   J Virol 74 (7), 3321-3329 (2000)
   PUBMED   10708449
  REMARK    GeneRIF: Env HERV-W glycoprotein mediates cell-cell fusion upon
            interaction with the type D mammalian retrovirus receptor. Env
            protein was detected in the placental syncytiotrophoblast,
            suggesting a physiological role during pregnancy and placenta
            formation.
REFERENCE   7  (bases 1 to 2794)
  AUTHORS   Mi,S., Lee,X., Li,X., Veldman,G.M., Finnerty,H., Racie,L.,
            LaVallie,E., Tang,X.Y., Edouard,P., Howes,S., Keith,J.C. Jr. and
            McCoy,J.M.
  TITLE     Syncytin is a captive retroviral envelope protein involved in human
            placental morphogenesis
  JOURNAL   Nature 403 (6771), 785-789 (2000)
   PUBMED   10693809
REFERENCE   8  (bases 1 to 2794)
  AUTHORS   Voisset,C., Blancher,A., Perron,H., Mandrand,B., Mallet,F. and
            Paranhos-Baccala,G.
  TITLE     Phylogeny of a novel family of human endogenous retrovirus
            sequences, HERV-W, in humans and other primates
  JOURNAL   AIDS Res Hum Retroviruses 15 (17), 1529-1533 (1999)
   PUBMED   10580403
REFERENCE   9  (bases 1 to 2794)
  AUTHORS   Blond,J.L., Beseme,F., Duret,L., Bouton,O., Bedin,F., Perron,H.,
            Mandrand,B. and Mallet,F.
  TITLE     Molecular characterization and placental expression of HERV-W, a
            new human endogenous retrovirus family
  JOURNAL   J Virol 73 (2), 1175-1185 (1999)
   PUBMED   9882319
REFERENCE   10 (bases 1 to 2794)
  AUTHORS   Alliel,P.M., Perin,J.P., Pierig,R., Nussbaum,J.L., Menard,A. and
            Rieger,F.
  TITLE     Endogenous retroviruses and multiple sclerosis. II. HERV-7q
  JOURNAL   C R Acad Sci III 321 (10), 857-863 (1998)
   PUBMED   9835022
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007566.2, AF072506.2 and
            BC137381.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001130925.1.
            
            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 an HERV provirus on chromosome 7 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 is expressed in the placental
            syncytiotrophoblast and is involved in fusion of the
            cytotrophoblast cells to form the syncytial layer of the placenta.
            The protein has the characteristics of a typical retroviral
            envelope protein, including a furin cleavage site that separates
            the surface (SU) and transmembrane (TM) proteins which form a
            heterodimer. Alternatively spliced transcript variants encoding the
            same protein have been found for this gene. [provided by RefSeq,
            Mar 2010].
            
            Transcript Variant: This variant (2) has an alternate 5' UTR, as
            compared to variant 1. Variants 1 and 2 encode the same protein.
            
            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##
            RNAseq introns :: single sample supports all introns SAMEA2162568
                              [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            endogenous retrovirus  :: PMID: 10693809
            MANE Ensembl match     :: ENST00000603053.2/ ENSP00000474984.1
            RefSeq Select criteria :: based on expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-31                AC007566.2         93660-93690         c
            32-1772             AF072506.2         1-1741
            1773-2685           BC137381.1         1641-2553
            2686-2794           AF072506.2         2655-2763
FEATURES             Location/Qualifiers
     source          1..2794
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.2"
     gene            1..2794
                     /gene="ERVW-1"
                     /gene_synonym="ENV; ENVW; ERVWE1; HERV-7q; HERV-W-ENV;
                     HERV7Q; HERVW; HERVWENV"
                     /note="endogenous retrovirus group W member 1, envelope"
                     /db_xref="GeneID:30816"
                     /db_xref="HGNC:HGNC:13525"
                     /db_xref="MIM:604659"
     exon            1..565
                     /gene="ERVW-1"
                     /gene_synonym="ENV; ENVW; ERVWE1; HERV-7q; HERV-W-ENV;
                     HERV7Q; HERVW; HERVWENV"
                     /inference="alignment:Splign:2.1.0"
     exon            566..2794
                     /gene="ERVW-1"
                     /gene_synonym="ENV; ENVW; ERVWE1; HERV-7q; HERV-W-ENV;
                     HERV7Q; HERVW; HERVWENV"
                     /inference="alignment:Splign:2.1.0"
     CDS             793..2409
                     /gene="ERVW-1"
                     /gene_synonym="ENV; ENVW; ERVWE1; HERV-7q; HERV-W-ENV;
                     HERV7Q; HERVW; HERVWENV"
                     /note="envelope glycoprotein; enverin; HERV-tryptophan
                     envelope protein; HERV-7q envelope protein; HERV-W Env
                     glycoprotein; HERV-W_7q21.2 provirus ancestral Env
                     polyprotein; human endogenous retrovirus W envC7-1
                     envelope protein; envelope polyprotein gPr73; syncytin-1;
                     endogenous retroviral family W, env(C7), member 1;
                     endogenous retrovirus group W, member 1; HERV-W envelope
                     protein"
                     /codon_start=1
                     /product="syncytin-1 precursor"
                     /protein_id="NP_001124397.1"
                     /db_xref="CCDS:CCDS5626.1"
                     /db_xref="GeneID:30816"
                     /db_xref="HGNC:HGNC:13525"
                     /db_xref="MIM:604659"
                     /translation="MALPYHIFLFTVLLPSFTLTAPPPCRCMTSSSPYQEFLWRMQRP
                     GNIDAPSYRSLSKGTPTFTAHTHMPRNCYHSATLCMHANTHYWTGKMINPSCPGGLGV
                     TVCWTYFTQTGMSDGGGVQDQAREKHVKEVISQLTRVHGTSSPYKGLDLSKLHETLRT
                     HTRLVSLFNTTLTGLHEVSAQNPTNCWICLPLNFRPYVSIPVPEQWNNFSTEINTTSV
                     LVGPLVSNLEITHTSNLTCVKFSNTTYTTNSQCIRWVTPPTQIVCLPSGIFFVCGTSA
                     YRCLNGSSESMCFLSFLVPPMTIYTEQDLYSYVISKPRNKRVPILPFVIGAGVLGALG
                     TGIGGITTSTQFYYKLSQELNGDMERVADSLVTLQDQLNSLAAVVLQNRRALDLLTAE
                     RGGTCLFLGEECCYYVNQSGIVTEKVKEIRDRIQRRAEELRNTGPWGLLSQWMPWILP
                     FLGPLAAIILLLLFGPCIFNLLVNFVSSRIEAVKLQMEPKMQSKTKIYRRPLDRPASP
                     RSDVNDIKGTPPEEISAAQPLLRPNSAGSS"
     regulatory      2776..2781
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERVW-1"
                     /gene_synonym="ENV; ENVW; ERVWE1; HERV-7q; HERV-W-ENV;
                     HERV7Q; HERVW; HERVWENV"
                     /note="hexamer: ATTAAA"
     polyA_site      2794
                     /gene="ERVW-1"
                     /gene_synonym="ENV; ENVW; ERVWE1; HERV-7q; HERV-W-ENV;
                     HERV7Q; HERVW; HERVWENV"
                     /note="major polyA site"
ORIGIN      
        1 agcagccccc ctttgggtcc cttccctttg tatgggagct gttttcatgc tatttcactc
       61 tattaaatct tgcaactgca ctcttctggt ccatgtttct tacggctcga gctgagcttt
      121 tgctcaccgt ccaccactgc tgtttgccac caccgcagac ctgccgctga ctcccatccc
      181 tctggatcct gcagggtgtc cgctgtgctc ctgatccagc gaggcgccca ttgccgctcc
      241 caattgggct aaaggcttgc cattgttcct gcacggctaa gtgcctgggt ttgttctaat
      301 tgagctgaac actagtcact gggttccatg gttctcttct gtgacccacg gcttctaata
      361 gaactataac acttaccaca tggcccaaga ttccattcct tggaatccgt gaggccaaga
      421 actccaggtc agagaatacg aggcttgcca ccatcttgga agcggcctgc taccatcttg
      481 gaagtggttc accaccatct tgggagctct gtgagcaagg accccccggt aacattttgg
      541 caaccacgaa cggacatcca aagtgataca tcctgggaag gaccctaccc agtcatttta
      601 tctaccccaa ctgcggttaa agtggctgga gtggagtctt ggatacatca cacttgagtc
      661 aaatcctgga tactgccaaa ggaacctgaa aatccaggag acaacgctag ctattcctgt
      721 gaacctctag aggatttgcg cctgctcttc aaacaacaac caggaggaaa gtaactaaaa
      781 tcataaatcc ccatggccct cccttatcat atttttctct ttactgttct tttaccctct
      841 ttcactctca ctgcaccccc tccatgccgc tgtatgacca gtagctcccc ttaccaagag
      901 tttctatgga gaatgcagcg tcccggaaat attgatgccc catcgtatag gagtctttct
      961 aagggaaccc ccaccttcac tgcccacacc catatgcccc gcaactgcta tcactctgcc
     1021 actctttgca tgcatgcaaa tactcattat tggacaggaa aaatgattaa tcctagttgt
     1081 cctggaggac ttggagtcac tgtctgttgg acttacttca cccaaactgg tatgtctgat
     1141 gggggtggag ttcaagatca ggcaagagaa aaacatgtaa aagaagtaat ctcccaactc
     1201 acccgggtac atggcacctc tagcccctac aaaggactag atctctcaaa actacatgaa
     1261 accctccgta cccatactcg cctggtaagc ctatttaata ccaccctcac tgggctccat
     1321 gaggtctcgg cccaaaaccc tactaactgt tggatatgcc tccccctgaa cttcaggcca
     1381 tatgtttcaa tccctgtacc tgaacaatgg aacaacttca gcacagaaat aaacaccact
     1441 tccgttttag taggacctct tgtttccaat ctggaaataa cccatacctc aaacctcacc
     1501 tgtgtaaaat ttagcaatac tacatacaca accaactccc aatgcatcag gtgggtaact
     1561 cctcccacac aaatagtctg cctaccctca ggaatatttt ttgtctgtgg tacctcagcc
     1621 tatcgttgtt tgaatggctc ttcagaatct atgtgcttcc tctcattctt agtgccccct
     1681 atgaccatct acactgaaca agatttatac agttatgtca tatctaagcc ccgcaacaaa
     1741 agagtaccca ttcttccttt tgttatagga gcaggagtgc taggtgcact aggtactggc
     1801 attggcggta tcacaacctc tactcagttc tactacaaac tatctcaaga actaaatggg
     1861 gacatggaac gggtcgccga ctccctggtc accttgcaag atcaacttaa ctccctagca
     1921 gcagtagtcc ttcaaaatcg aagagcttta gacttgctaa ccgctgaaag agggggaacc
     1981 tgtttatttt taggggaaga atgctgttat tatgttaatc aatccggaat cgtcactgag
     2041 aaagttaaag aaattcgaga tcgaatacaa cgtagagcag aggagcttcg aaacactgga
     2101 ccctggggcc tcctcagcca atggatgccc tggattctcc ccttcttagg acctctagca
     2161 gctataatat tgctactcct ctttggaccc tgtatcttta acctccttgt taactttgtc
     2221 tcttccagaa tcgaagctgt aaaactacaa atggagccca agatgcagtc caagactaag
     2281 atctaccgca gacccctgga ccggcctgct agcccacgat ctgatgttaa tgacatcaaa
     2341 ggcacccctc ctgaggaaat ctcagctgca caacctctac tacgccccaa ttcagcagga
     2401 agcagttaga gcggtcgtcg gccaacctcc ccaacagcac ttaggttttc ctgttgagat
     2461 gggggactga gagacaggac tagctggatt tcctaggctg actaagaatc cctaagccta
     2521 gctgggaagg tgaccacatc cacctttaaa cacggggctt gcaacttagc tcacacctga
     2581 ccaatcagag agctcactaa aatgctaatt aggcaaagac aggaggtaaa gaaatagcca
     2641 atcatctatt gcctgagagc acagcaggag ggacaatgat cgggatataa acccaagtct
     2701 tcgagccggc aacggcaacc ccctttgggt cccctccctt tgtatgggag ctctgttttc
     2761 atgctatttc actctattaa atcttgcaac tgca
//
