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

Gene ID: 147664, updated on 2-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)

Genotypes

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

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