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

    Gene ID: 2086, updated on 10-Dec-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (64990356..65006687, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (66196536..66212865, complement)
    RS_2024_09 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. Tissue and differentiation specific expression on the endogenous retrovirus ERV3 (HERV-R) in normal human tissues and during induced monocytic differentiation in the U-937 cell line. Larsson E, et al. Leukemia, 1997 Apr. PMID 9209323
    2. Tissue-specific expression of human provirus ERV3 mRNA in human placenta: two of the three ERV3 mRNAs contain human cellular sequences. Kato N, et al. J Virol, 1987 Jul. PMID 2884330, Free PMC Article
    3. Absence of expression of a human endogenous retrovirus is correlated with choriocarcinoma. Kato N, et al. Int J Cancer, 1988 Mar 15. PMID 3346101
    4. Assignment of the endogenous retrovirus HERV-R (ERV3) to human chromosome 7q11.2 by radiation hybrid mapping. Kim H, et al. Cytogenet Cell Genet, 2000. PMID 10894926
    5. The cellular mechanism by which the human endogenous retrovirus ERV-3 env gene affects proliferation and differentiation in a human placental trophoblast model, BeWo. Lin L, et al. Placenta, 2000 Jan. PMID 10692254

    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)

    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
      UniProtKB/TrEMBL
      B4DHN1

    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

    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_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
      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

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

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