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ERV3-1 endogenous retrovirus group 3 member 1, envelope [ Homo sapiens (human) ]

Gene ID: 2086, updated on 3-Apr-2024

Summary

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Official Symbol
ERV3-1provided by HGNC
Official Full Name
endogenous retrovirus group 3 member 1, envelopeprovided by HGNC
Primary source
HGNC:HGNC:3454
See related
Ensembl:ENSG00000213462 MIM:131170; AllianceGenome:HGNC:3454
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
ERV3; ERVR; envR; ERV-R; HERVR; HERV-R
Summary
This gene contains sequence derived from endogenous retrovirus, and is therefore similar to multiple other loci in the genome. Transcripts at this locus encode a conserved protein with a predicted signal peptide and similarity to the Env polyprotein. This protein is overexpressed in colorectal and other cancers. [provided by RefSeq, Jan 2017]
Expression
Ubiquitous expression in adrenal (RPKM 19.4), fat (RPKM 15.6) and 23 other tissues See more
Orthologs
all
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Genomic context

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See ERV3-1 in Genome Data Viewer
Location:
7q11.21
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (64990356..65006687, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (66196536..66212865, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (64450734..64467065, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene metadherin pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:64428091-64428834 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:64428835-64429578 Neighboring gene MPRA-validated peak6534 silencer Neighboring gene ERV3-1-ZNF117 readthrough Neighboring gene vomeronasal 1 receptor 43 pseudogene Neighboring gene zinc finger protein 117 Neighboring gene Sharpr-MPRA regulatory region 12375 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26070 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18197 Neighboring gene uncharacterized LOC105375330 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:64480738-64480945 Neighboring gene RNA, U6 small nuclear 1229, pseudogene Neighboring gene uncharacterized LOC105375329

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. Endogenous Retrovirus RNA Expression Differences between Race, Stage and HPV Status Offer Improved Prognostication among Women with Cervical Cancer. Alldredge J, et al. Int J Mol Sci, 2023 Jan 12. PMID 36675007, Free PMC Article
  2. Expression of ERV3-1 in leukocytes of acute myelogenous leukemia patients. Nakagawa S, et al. Gene, 2021 Mar 20. PMID 33338509
  3. Endogenous Retrovirus 3 - History, Physiology, and Pathology. Bustamante Rivera YY, et al. Front Microbiol, 2017. PMID 29379485, Free PMC Article
  4. Elevation of human ERV3-1 env protein expression in colorectal cancer. Lee SH, et al. J Clin Pathol, 2014 Sep. PMID 25016529
  5. Human ERV3-1 env protein expression in various human tissues and tumours. Kang YJ, et al. J Clin Pathol, 2014 Jan. PMID 24043713

See all (42) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Endogenous Retrovirus RNA Expression Differences between Race, Stage and HPV Status Offer Improved Prognostication among Women with Cervical Cancer.
    Title: Endogenous Retrovirus RNA Expression Differences between Race, Stage and HPV Status Offer Improved Prognostication among Women with Cervical Cancer.
  2. Expression of ERV3-1 in leukocytes of acute myelogenous leukemia patients.
    Title: Expression of ERV3-1 in leukocytes of acute myelogenous leukemia patients.
  3. ERVWE1, ERVFRDE1 and ERV3 transcription was down-regulated in hydatidiform moles and gestational trophoblastic neoplasia.
    Title: Expression patterns of ERVWE1/Syncytin-1 and other placentally expressed human endogenous retroviruses along the malignant transformation process of hydatidiform moles.
  4. Letter: report elevated ERV3-1 levels in colorectal neoplasms.
    Title: Elevation of human ERV3-1 env protein expression in colorectal cancer.
  5. molecular evolution and comparison with other primates
    Title: Conservation and loss of the ERV3 open reading frame in primates.
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

Readthrough ERV3-1-ZNF117

Readthrough gene: ERV3-1-ZNF117, Included gene: ZNF117

Homology

Clone Names

  • FLJ23884

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  

General protein information

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Preferred Names
endogenous retrovirus group 3 member 1 Env polyprotein
Names
ERV-R envelope protein
ERV3-1 envelope protein
HERV-R envelope protein
HERV-R_7q21.2 provirus ancestral Env polyprotein
endogenous retroviral sequence 3
endogenous retrovirus group 3, member 1

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_001007253.4 → NP_001007254.2  endogenous retrovirus group 3 member 1 Env polyprotein precursor

    See identical proteins and their annotated locations for NP_001007254.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the protein related to endogenous retrovirus.
    Source sequence(s)
    AC073210, AK074464, DA198800
    Consensus CDS
    CCDS47595.1
    UniProtKB/Swiss-Prot
    Q14264
    UniProtKB/TrEMBL
    B4DHN1
    Related
    ENSP00000391594.1, ENST00000394323.3
    Conserved Domains (1) summary
    cd09850
    Location:521 → 597
    Ebola-like_HR1-HR2; heptad repeat 1-heptad repeat 2 region of the transmembrane subunit of Filoviridae viruses, Ebola virus and Marburg virus, and related domains

  2. NM_001396062.1 → NP_001382991.1  endogenous retrovirus group 3 member 1 Env polyprotein precursor

    Status: REVIEWED

    Source sequence(s)
    AC073210
    Consensus CDS
    CCDS47595.1
    UniProtKB/Swiss-Prot
    Q14264

RNA

  1. NR_145414.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' exon and lacks the open reading frame found in variant 1.
    Source sequence(s)
    AC073210, AK097499
    Related
    ENST00000528878.1

  2. NR_145415.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 3' exon and lacks the open reading frame found in variant 1.
    Source sequence(s)
    AC073210
    Related
    ENST00000535538.1

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
    64990356..65006687 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    66196536..66212865 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14264.2 GenPept UniProtKB/Swiss-Prot:Q14264

Gene LinkOut

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