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    ERVV-1 endogenous retrovirus group V member 1, envelope [ Homo sapiens (human) ]

    Gene ID: 147664, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ERVV-1provided by HGNC
    Official Full Name
    endogenous retrovirus group V member 1, envelopeprovided by HGNC
    Primary source
    HGNC:HGNC:26501
    See related
    Ensembl:ENSG00000269526 AllianceGenome:HGNC:26501
    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
    ENVV1; HERV-V1
    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 human chromosome 19 that has inactivating mutations in the gag and pol genes. The gene's envelope protein is expressed in the human placenta but is truncated at its C-terminus. [provided by RefSeq, Oct 2015]
    Orthologs
    all
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    Genomic context

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    See ERVV-1 in Genome Data Viewer
    Location:
    19q13.41
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (53013921..53016123)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (56096490..56098692)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (53517174..53519376)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 702, pseudogene Neighboring gene uncharacterized LOC105372453 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:53495495-53496114 Neighboring gene uncharacterized LOC124904758 Neighboring gene ARPC1A pseudogene 2 Neighboring gene NANOG hESC enhancer GRCh37_chr19:53531491-53532029 Neighboring gene endogenous retrovirus group V member 2, envelope Neighboring gene uncharacterized LOC124904762

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Reactivation of codogenic endogenous retroviral (ERV) envelope genes in human endometrial carcinoma and prestages: Emergence of new molecular targets. Strissel PL, et al. Oncotarget, 2012 Oct. PMID 23085571, Free PMC Article
    2. Gene conversion and purifying selection of a placenta-specific ERV-V envelope gene during simian evolution. Kjeldbjerg AL, et al. BMC Evol Biol, 2008 Sep 30. PMID 18826608, Free PMC Article
    3. Syncytins expressed in human placental trophoblast. Roberts RM, et al. Placenta, 2021 Sep 15. PMID 33504453, Free PMC Article
    4. Differential evolutionary fate of an ancestral primate endogenous retrovirus envelope gene, the EnvV syncytin, captured for a function in placentation. Esnault C, et al. PLoS Genet, 2013 Mar. PMID 23555306, Free PMC Article
    5. A revised nomenclature for transcribed human endogenous retroviral loci. Mayer J, et al. Mob DNA, 2011 May 4. PMID 21542922, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. In the Old World monkeys, we show that envV is both specifically expressed at the level of the placental syncytiotrophoblast and fusogenic.
      Title: Differential evolutionary fate of an ancestral primate endogenous retrovirus envelope gene, the EnvV syncytin, captured for a function in placentation.
    Submit: New GeneRIF Correction

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32214

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    endogenous retrovirus group V member 1 Env polyprotein
    Names
    HERV-V_19q13.41 provirus ancestral Env polyprotein 1
    endogenous retrovirus group V, member 1
    endogenous retrovirus group V, member 2
    envelope glycoprotein ENVV1
    envelope protein ENVV1

    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_152473.3 → NP_689686.2  endogenous retrovirus group V member 1 Env polyprotein precursor

      See identical proteins and their annotated locations for NP_689686.2

      Status: REVIEWED

      Source sequence(s)
      AC010328
      Consensus CDS
      CCDS59419.1
      UniProtKB/Swiss-Prot
      B6SEH8
      UniProtKB/TrEMBL
      M9QQA5
      Related
      ENSP00000473153.1, ENST00000602168.2
      Conserved Domains (1) summary
      cd09950
      Location:355 → 426
      ENVV1-like_HR1-HR2; heptad repeat 1-heptad repeat 2 region (ectodomain) of the transmembrane subunit of the human endogenous retrovirus ENVV1, and related domains

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      53013921..53016123
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      56096490..56098692
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    B6SEH8.1 GenPept UniProtKB/Swiss-Prot:B6SEH8

    Gene LinkOut

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

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