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Homo sapiens endogenous retrovirus group W member 1, envelope (ERVW-1), transcript variant 2, mRNA
NCBI Reference Sequence: NM_001130925.2
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LOCUS NM_001130925 2794 bp mRNA linear PRI 13-JUL-2023
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 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 2 (bases 1 to 2794)
AUTHORS Fu Y, Song Y, Zhang J, Wei LP and Sun XR.
TITLE Decreased expression and DNA hypermethylation of syncytin-1 in
human villus tissues with unexplained recurrent spontaneous
abortion
JOURNAL J Reprod Immunol 155, 103784 (2023)
PUBMED 36508844
REMARK GeneRIF: Decreased expression and DNA hypermethylation of
syncytin-1 in human villus tissues with unexplained recurrent
spontaneous abortion.
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 JL, Lavillette D, Cheynet V, Bouton O, Oriol G,
Chapel-Fernandes S, Mandrand B, Mallet F and Cosset FL.
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 GM, Finnerty H, Racie L, LaVallie E,
Tang XY, Edouard P, Howes S, Keith JC Jr and McCoy JM.
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 JL, 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 PM, Perin JP, Pierig R, Nussbaum JL, 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"
misc_feature 784..786
/gene="ERVW-1"
/gene_synonym="ENV; ENVW; ERVWE1; HERV-7q; HERV-W-ENV;
HERV7Q; HERVW; HERVWENV"
/note="upstream in-frame stop codon"
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"
sig_peptide 793..852
/gene="ERVW-1"
/gene_synonym="ENV; ENVW; ERVWE1; HERV-7q; HERV-W-ENV;
HERV7Q; HERVW; HERVWENV"
/inference="COORDINATES: ab initio prediction:SignalP:4.0"
mat_peptide 853..2406
/gene="ERVW-1"
/gene_synonym="ENV; ENVW; ERVWE1; HERV-7q; HERV-W-ENV;
HERV7Q; HERVW; HERVWENV"
/product="Syncytin-1. /id=PRO_0000008485"
/note="propagated from UniProtKB/Swiss-Prot (Q9UQF0.1)"
mat_peptide 853..1743
/gene="ERVW-1"
/gene_synonym="ENV; ENVW; ERVWE1; HERV-7q; HERV-W-ENV;
HERV7Q; HERVW; HERVWENV"
/product="Surface protein. /id=PRO_0000008486"
/note="propagated from UniProtKB/Swiss-Prot (Q9UQF0.1)"
mat_peptide 856..2406
/gene="ERVW-1"
/gene_synonym="ENV; ENVW; ERVWE1; HERV-7q; HERV-W-ENV;
HERV7Q; HERVW; HERVWENV"
/product="syncytin"
misc_feature 1297..1299
/gene="ERVW-1"
/gene_synonym="ENV; ENVW; ERVWE1; HERV-7q; HERV-W-ENV;
HERV7Q; HERVW; HERVWENV"
/note="N-linked (GlcNAc...) asparagine.
/evidence=ECO:0000255; propagated from
UniProtKB/Swiss-Prot (Q9UQF0.1); glycosylation site"
misc_feature 1348..1359
/gene="ERVW-1"
/gene_synonym="ENV; ENVW; ERVWE1; HERV-7q; HERV-W-ENV;
HERV7Q; HERVW; HERVWENV"
/note="propagated from UniProtKB/Swiss-Prot (Q9UQF0.1);
Region: CXXC. /evidence=ECO:0000305"
misc_feature 1414..1416
/gene="ERVW-1"
/gene_synonym="ENV; ENVW; ERVWE1; HERV-7q; HERV-W-ENV;
HERV7Q; HERVW; HERVWENV"
/note="N-linked (GlcNAc...) asparagine.
/evidence=ECO:0000255; propagated from
UniProtKB/Swiss-Prot (Q9UQF0.1); glycosylation site"
misc_feature 1432..1434
/gene="ERVW-1"
/gene_synonym="ENV; ENVW; ERVWE1; HERV-7q; HERV-W-ENV;
HERV7Q; HERVW; HERVWENV"
/note="N-linked (GlcNAc...) asparagine.
/evidence=ECO:0000255; propagated from
UniProtKB/Swiss-Prot (Q9UQF0.1); glycosylation site"
misc_feature 1492..1494
/gene="ERVW-1"
/gene_synonym="ENV; ENVW; ERVWE1; HERV-7q; HERV-W-ENV;
HERV7Q; HERVW; HERVWENV"
/note="N-linked (GlcNAc...) asparagine.
/evidence=ECO:0000255; propagated from
UniProtKB/Swiss-Prot (Q9UQF0.1); glycosylation site"
misc_feature 1516..1518
/gene="ERVW-1"
/gene_synonym="ENV; ENVW; ERVWE1; HERV-7q; HERV-W-ENV;
HERV7Q; HERVW; HERVWENV"
/note="N-linked (GlcNAc...) asparagine.
/evidence=ECO:0000255; propagated from
UniProtKB/Swiss-Prot (Q9UQF0.1); glycosylation site"
misc_feature 1633..1635
/gene="ERVW-1"
/gene_synonym="ENV; ENVW; ERVWE1; HERV-7q; HERV-W-ENV;
HERV7Q; HERVW; HERVWENV"
/note="N-linked (GlcNAc...) asparagine.
/evidence=ECO:0000255; propagated from
UniProtKB/Swiss-Prot (Q9UQF0.1); glycosylation site"
misc_feature 1741..1746
/gene="ERVW-1"
/gene_synonym="ENV; ENVW; ERVWE1; HERV-7q; HERV-W-ENV;
HERV7Q; HERVW; HERVWENV"
/note="Cleavage. /evidence=ECO:0000269|PubMed:15827173;
propagated from UniProtKB/Swiss-Prot (Q9UQF0.1); cleavage
site"
mat_peptide 1744..2406
/gene="ERVW-1"
/gene_synonym="ENV; ENVW; ERVWE1; HERV-7q; HERV-W-ENV;
HERV7Q; HERVW; HERVWENV"
/product="Transmembrane protein. /id=PRO_0000008487"
/note="propagated from UniProtKB/Swiss-Prot (Q9UQF0.1)"
misc_feature 1750..1812
/gene="ERVW-1"
/gene_synonym="ENV; ENVW; ERVWE1; HERV-7q; HERV-W-ENV;
HERV7Q; HERVW; HERVWENV"
/note="propagated from UniProtKB/Swiss-Prot (Q9UQF0.1);
Region: Fusion peptide. /evidence=ECO:0000255"
misc_feature 1930..1980
/gene="ERVW-1"
/gene_synonym="ENV; ENVW; ERVWE1; HERV-7q; HERV-W-ENV;
HERV7Q; HERVW; HERVWENV"
/note="propagated from UniProtKB/Swiss-Prot (Q9UQF0.1);
Region: Immunosuppression. /evidence=ECO:0000250"
misc_feature 1981..2010
/gene="ERVW-1"
/gene_synonym="ENV; ENVW; ERVWE1; HERV-7q; HERV-W-ENV;
HERV7Q; HERVW; HERVWENV"
/note="propagated from UniProtKB/Swiss-Prot (Q9UQF0.1);
Region: CX6CC. /evidence=ECO:0000305"
misc_feature 2017..2019
/gene="ERVW-1"
/gene_synonym="ENV; ENVW; ERVWE1; HERV-7q; HERV-W-ENV;
HERV7Q; HERVW; HERVWENV"
/note="N-linked (GlcNAc...) asparagine.
/evidence=ECO:0000255; propagated from
UniProtKB/Swiss-Prot (Q9UQF0.1); glycosylation site"
misc_feature 2122..2184
/gene="ERVW-1"
/gene_synonym="ENV; ENVW; ERVWE1; HERV-7q; HERV-W-ENV;
HERV7Q; HERVW; HERVWENV"
/note="propagated from UniProtKB/Swiss-Prot (Q9UQF0.1);
transmembrane region"
misc_feature 2185..2244
/gene="ERVW-1"
/gene_synonym="ENV; ENVW; ERVWE1; HERV-7q; HERV-W-ENV;
HERV7Q; HERVW; HERVWENV"
/note="propagated from UniProtKB/Swiss-Prot (Q9UQF0.1);
Region: Essential for the fusiogenic function"
misc_feature 2278..2406
/gene="ERVW-1"
/gene_synonym="ENV; ENVW; ERVWE1; HERV-7q; HERV-W-ENV;
HERV7Q; HERVW; HERVWENV"
/note="propagated from UniProtKB/Swiss-Prot (Q9UQF0.1);
Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
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
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