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

    Gene ID: 30816, updated on 2-Nov-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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    See ERVW-1 in Genome Data Viewer
    Location:
    7q21.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (92468380..92477946, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (93709695..93719261, complement)
    RS_2024_09 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 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. The envelope glycoprotein of human endogenous retrovirus HERV-W induces cellular resistance to spleen necrosis virus. Ponferrada VG, et al. Arch Virol, 2003 Apr. PMID 12664292
    2. Promoter Hypermethylation and Decreased Expression of Syncytin-1 in Pancreatic Adenocarcinomas. Lu Q, et al. PLoS One, 2015. PMID 26230721, Free PMC Article
    3. Human endogenous retrovirus HERV-W family: chromosomal localization, identification, and phylogeny. Kim HS, et al. AIDS Res Hum Retroviruses, 2001 May 1. PMID 11375061
    4. Multiple sclerosis retrovirus particles and recombinant envelope trigger an abnormal immune response in vitro, by inducing polyclonal Vbeta16 T-lymphocyte activation. Perron H, et al. Virology, 2001 Sep 1. PMID 11531410
    5. A peptide nucleic acid (PNA)-mediated polymerase chain reaction clamping allows the selective inhibition of the ERVWE1 gene amplification. Machnik G, et al. Mol Cell Probes, 2014 Oct-Dec. PMID 24814867

    See all (111) 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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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