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ERVW-1 endogenous retrovirus group W member 1, envelope [ Homo sapiens (human) ]

Gene ID: 30816, updated on 5-Mar-2024

Summary

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Official Symbol
ERVW-1provided by HGNC
Official Full Name
endogenous retrovirus group W member 1, envelopeprovided by HGNC
Primary source
HGNC:HGNC:13525
See related
Ensembl:ENSG00000242950 MIM:604659; AllianceGenome:HGNC:13525
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ENV; ENVW; HERVW; ERVWE1; HERV7Q; HERV-7q; HERVWENV; HERV-W-ENV
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]
Expression
Restricted expression toward placenta (RPKM 37.5) See more
Orthologs
all
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Genomic context

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Location:
7q21.2
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (92468380..92477946, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (93709695..93719261, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (92097694..92107260, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene transmembrane BAX inhibitor motif containing 7, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:92052283-92052783 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18370 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18371 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26260 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 4 pseudogene 1 Neighboring gene GATA zinc finger domain containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:92105944-92106445 Neighboring gene ERVW-1 upstream regulatory region Neighboring gene peroxisomal biogenesis factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26261 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26262 Neighboring gene RNA binding motif protein 48

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Serum circulating free DNA of syncytin-1 as a novel molecular marker for early diagnosis of non-small-cell lung cancer. Zhuang X, et al. Biomark Med, 2022 Dec. PMID 36861469
  2. Decreased expression and DNA hypermethylation of syncytin-1 in human villus tissues with unexplained recurrent spontaneous abortion. Fu Y, et al. J Reprod Immunol, 2023 Feb. PMID 36508844
  3. Impaired transcription of human endogenous retroviruses in the sperm with exception of syncytin 1: short communication. Bergallo M, et al. Mol Biol Rep, 2021 Jul. PMID 34302264
  4. Evidence of the pathogenic HERV-W envelope expression in T lymphocytes in association with the respiratory outcome of COVID-19 patients. Balestrieri E, et al. EBioMedicine, 2021 Apr. PMID 33867312, Free PMC Article
  5. The Association between Plasma ERVWE1 Concentrations and Affective Symptoms during Pregnancy: Is This a Friendly Alien? Serati M, et al. Int J Environ Res Public Health, 2020 Dec 9. PMID 33317172, Free PMC Article

See all (110) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Ancient dormant virus remnant ERVW-1 drives ferroptosis via degradation of GPX4 and SLC3A2 in schizophrenia.
    Title: Ancient dormant virus remnant ERVW-1 drives ferroptosis via degradation of GPX4 and SLC3A2 in schizophrenia.
  2. ERVW-1 Activates ATF6-Mediated Unfolded Protein Response by Decreasing GANAB in Recent-Onset Schizophrenia.
    Title: ERVW-1 Activates ATF6-Mediated Unfolded Protein Response by Decreasing GANAB in Recent-Onset Schizophrenia.
  3. Serum circulating free DNA of syncytin-1 as a novel molecular marker for early diagnosis of non-small-cell lung cancer.
    Title: Serum circulating free DNA of syncytin-1 as a novel molecular marker for early diagnosis of non-small-cell lung cancer.
  4. 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.
    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.
  5. ERVWE1 Reduces Hippocampal Neuron Density and Impairs Dendritic Spine Morphology through Inhibiting Wnt/JNK Non-Canonical Pathway via miR-141-3p in Schizophrenia.
    Title: ERVWE1 Reduces Hippocampal Neuron Density and Impairs Dendritic Spine Morphology through Inhibiting Wnt/JNK Non-Canonical Pathway via miR-141-3p in Schizophrenia.
  6. Decreased expression and DNA hypermethylation of syncytin-1 in human villus tissues with unexplained recurrent spontaneous abortion.
    Title: Decreased expression and DNA hypermethylation of syncytin-1 in human villus tissues with unexplained recurrent spontaneous abortion.
  7. Whole-genome sequencing identifies rare missense variants of WNT16 and ERVW-1 causing the systemic lupus erythematosus.
    Title: Whole-genome sequencing identifies rare missense variants of WNT16 and ERVW-1 causing the systemic lupus erythematosus.
  8. Beyond fusion: A novel role for ERVW-1 in trophoblast proliferation and type I interferon receptor expression.
    Title: Beyond fusion: A novel role for ERVW-1 in trophoblast proliferation and type I interferon receptor expression.
  9. Impaired transcription of human endogenous retroviruses in the sperm with exception of syncytin 1: short communication.
    Title: Impaired transcription of human endogenous retroviruses in the sperm with exception of syncytin 1: short communication.
  10. Analysis of KAP1 expression patterns and human endogenous retrovirus Env proteins in ovarian cancer.
    Title: Analysis of KAP1 expression patterns and human endogenous retrovirus Env proteins in ovarian cancer.
Submit: New GeneRIF Correction See all GeneRIFs (85)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat-mediated regulation of MSRV and Syncytin-1 involves TLR-4 in primary astrocytes PubMed
tat HIV-1 Tat stimulates MSRV and inhibits Syncytin-1 in monocytes, while in primary astrocytes and differentiated macrophages Tat stimulates both MSRV and Syncytin-1 PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in anatomical structure morphogenesis TAS
Traceable Author Statement
more info
 PubMed 
acts_upstream_of_or_within myoblast fusion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in syncytium formation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in syncytium formation by plasma membrane fusion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in syncytium formation by plasma membrane fusion IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
syncytin-1
Names
HERV-7q envelope protein
HERV-W Env glycoprotein
HERV-W envelope protein
HERV-W_7q21.2 provirus ancestral Env polyprotein
HERV-tryptophan envelope protein
endogenous retroviral family W, env(C7), member 1
endogenous retrovirus group W, member 1
envelope glycoprotein
envelope polyprotein gPr73
enverin
human endogenous retrovirus W envC7-1 envelope protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001130925.2 → NP_001124397.1  syncytin-1 precursor

    See identical proteins and their annotated locations for NP_001124397.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' UTR, as compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC007566, AF072506, BC137381
    Consensus CDS
    CCDS5626.1
    UniProtKB/Swiss-Prot
    B2RPD4, O95244, O95245, Q8NHY7, Q9NRZ2, Q9NZG3, Q9UQF0
    UniProtKB/TrEMBL
    D0EYG5
    Related
    ENSP00000474984.1, ENST00000603053.2
    Conserved Domains (1) summary
    pfam00429
    Location:22 → 477
    TLV_coat; ENV polyprotein (coat polyprotein)

  2. NM_014590.4 → NP_055405.3  syncytin-1 precursor

    See identical proteins and their annotated locations for NP_055405.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer, unspliced transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC007566, AF208161, BG012022, BX365066, BX391741
    Consensus CDS
    CCDS5626.1
    UniProtKB/Swiss-Prot
    B2RPD4, O95244, O95245, Q8NHY7, Q9NRZ2, Q9NZG3, Q9UQF0
    UniProtKB/TrEMBL
    D0EYG5
    Related
    ENSP00000419945.1, ENST00000493463.2
    Conserved Domains (1) summary
    pfam00429
    Location:22 → 477
    TLV_coat; ENV polyprotein (coat polyprotein)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    92468380..92477946 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    93709695..93719261 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UQF0.1 GenPept UniProtKB/Swiss-Prot:Q9UQF0

Gene LinkOut

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