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Aliases for ERV3-1 Gene

Aliases for ERV3-1 Gene

  • Endogenous Retrovirus Group 3, Member 1 2 3
  • HERV-R_7q21.2 Provirus Ancestral Env Polyprotein 3 4
  • Endogenous Retroviral Sequence 3 2 3
  • ERV3-1 Envelope Protein 3 4
  • HERV-R Envelope Protein 3 4
  • ERV-3 Envelope Protein 3 4
  • ERV-R Envelope Protein 3 4
  • ERV3 3 4
  • Endogenous Retroviral Sequence 3 (Includes Zinc Finger Protein H-Plk/HPF9) 2
  • ERV3 Envelope Protein 4
  • Envelope Polyprotein 4
  • HERV-R 3
  • ERV-R 3
  • HERVR 3
  • ERVR 3
  • EnvR 3

External Ids for ERV3-1 Gene

Previous HGNC Symbols for ERV3-1 Gene

  • ERV3

Previous GeneCards Identifiers for ERV3-1 Gene

  • GC07M064451

Summaries for ERV3-1 Gene

Entrez Gene Summary for ERV3-1 Gene

  • The human genome includes many retroelements including the human endogenous retroviruses (HERVs). ERV3, one of the most studied HERVs, is thought to have integrated 30 to 40 million years ago and is present in higher primates with the exception of gorillas. Taken together, the observation of genome conservation, the detection of transcript expression, and the presence of conserved ORFs is circumstantial evidence for a functional role. A functional role is also suggested by the observation that downregulation of ERV3 is reported in choriocarcinoma. [provided by RefSeq, Jul 2008]

GeneCards Summary for ERV3-1 Gene

ERV3-1 (Endogenous Retrovirus Group 3, Member 1) is a Protein Coding gene. Diseases associated with ERV3-1 include wagner syndrome 1 and choriocarcinoma.

UniProtKB/Swiss-Prot for ERV3-1 Gene

  • Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its fusogenic properties. It can inhibit cell growth through decrease expression of cyclin B1 and increased expression of p21 in vitro.

  • SU mediates receptor recognition.

  • TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity).

Gene Wiki entry for ERV3-1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERV3-1 Gene

Genomics for ERV3-1 Gene

Genomic Location for ERV3-1 Gene

Chromosome:
7
Start:
64,990,355 bp from pter
End:
65,006,746 bp from pter
Size:
16,392 bases
Orientation:
Minus strand

Genomic View for ERV3-1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ERV3-1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERV3-1 Gene

No data available for Regulatory Elements for ERV3-1 Gene

Proteins for ERV3-1 Gene

  • Protein details for ERV3-1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14264-ENR1_HUMAN
    Recommended name:
    Endogenous retrovirus group 3 member 1 Env polyprotein
    Protein Accession:
    Q14264

    Protein attributes for ERV3-1 Gene

    Size:
    604 amino acids
    Molecular mass:
    67942 Da
    Quaternary structure:
    • The surface (SU) and transmembrane (TM) proteins form a heterodimer. SU and TM are attached by non-covalent interactions or by a labile interchain disulfide bond (By similarity).
    Miscellaneous:
    • HERV-R_7q21.2 genomic and subgenomic RNAs have been observed
    • This provirus is intergenic, the closest flanking genes being ZNF117 and FLJ25037

neXtProt entry for ERV3-1 Gene

Proteomics data for ERV3-1 Gene at MOPED

Post-translational modifications for ERV3-1 Gene

  • Specific enzymatic cleavages in vivo yield the mature SU and TM proteins (By similarity). Has been mainly detected in vivo as an 65 kDa unprocessed polyprotein precursor.
  • The CXXC motif is highly conserved across a broad range of retroviral envelope proteins. It is thought to participate in the formation of a labile disulfide bond possibly with the CX6CC motif present in the transmembrane protein. Isomerization of the intersubunit disulfide bond to an SU intrachain disulfide bond is thought to occur upon receptor recognition in order to allow membrane fusion (By similarity).
  • Glycosylation at Asn 64, Asn 105, Asn 201, Asn 316, Asn 369, Asn 382, Asn 399, Asn 527, and Asn 569
  • Modification sites at PhosphoSitePlus

Other Protein References for ERV3-1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ERV3-1 Gene

Domains & Families for ERV3-1 Gene

Protein Domains for ERV3-1 Gene

Suggested Antigen Peptide Sequences for ERV3-1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14264

UniProtKB/Swiss-Prot:

ENR1_HUMAN :
  • Contains the CKS-17 immunosuppressive domain present in many retroviral envelope proteins. As a synthetic peptide, it inhibits immune function in vitro and in vivo (By similarity).
  • Belongs to the gamma type-C retroviral envelope protein family. HERV class-I R env subfamily.
Domain:
  • Contains the CKS-17 immunosuppressive domain present in many retroviral envelope proteins. As a synthetic peptide, it inhibits immune function in vitro and in vivo (By similarity).
Family:
  • Belongs to the gamma type-C retroviral envelope protein family. HERV class-I R env subfamily.
genes like me logo Genes that share domains with ERV3-1: view

No data available for Gene Families for ERV3-1 Gene

Function for ERV3-1 Gene

Molecular function for ERV3-1 Gene

UniProtKB/Swiss-Prot Function:
Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its fusogenic properties. It can inhibit cell growth through decrease expression of cyclin B1 and increased expression of p21 in vitro.
UniProtKB/Swiss-Prot Function:
SU mediates receptor recognition.
UniProtKB/Swiss-Prot Function:
TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity).

Gene Ontology (GO) - Molecular Function for ERV3-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with ERV3-1: view

Phenotypes for ERV3-1 Gene

GenomeRNAi human phenotypes for ERV3-1:
genes like me logo Genes that share phenotypes with ERV3-1: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ERV3-1 Gene

Localization for ERV3-1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERV3-1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ERV3-1 Gene COMPARTMENTS Subcellular localization image for ERV3-1 gene
Compartment Confidence
extracellular 5
cytosol 2
mitochondrion 2
nucleus 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for ERV3-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019031 viral envelope IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with ERV3-1: view

Pathways & Interactions for ERV3-1 Gene

SuperPathways for ERV3-1 Gene

No Data Available

Interacting Proteins for ERV3-1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000391594%0d%0a9606.ENSP00000260983%0d%0a
Selected Interacting proteins: ENSP00000391594 for ERV3-1 Gene via STRING

Symbol External ID(s) Details
HECW2

Gene Ontology (GO) - Biological Process for ERV3-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with ERV3-1: view

No data available for Pathways by source and SIGNOR curated interactions for ERV3-1 Gene

Drugs & Compounds for ERV3-1 Gene

(1) Additional Compounds for ERV3-1 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Steroid
genes like me logo Genes that share compounds with ERV3-1: view

Transcripts for ERV3-1 Gene

mRNA/cDNA for ERV3-1 Gene

(1) REFSEQ mRNAs :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ERV3-1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ERV3-1 Gene

No ASD Table

Relevant External Links for ERV3-1 Gene

GeneLoc Exon Structure for
ERV3-1
ECgene alternative splicing isoforms for
ERV3-1

Expression for ERV3-1 Gene

mRNA expression in normal human tissues for ERV3-1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ERV3-1 Gene



mRNA Expression by UniProt/SwissProt for ERV3-1 Gene

Q14264-ENR1_HUMAN
Tissue specificity: Expressed at higher level in adrenal, sebaceous glands and placenta. Expressed at lower level in bone marrow, brain, breast, colon, heart, kidney, liver, lung, ovary, PBL, prostate, skin, spleen, testis, thymus, thyroid, trachea.
genes like me logo Genes that share expression patterns with ERV3-1: view

Protein tissue co-expression partners for ERV3-1 Gene

- Elite partner

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein differential expression in normal tissues for ERV3-1 Gene

Orthologs for ERV3-1 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for ERV3-1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ERV3-1 35
  • 99.23 (n)
  • 98.18 (a)
Species with no ortholog for ERV3-1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for ERV3-1 Gene

ENSEMBL:
Gene Tree for ERV3-1 (if available)
TreeFam:
Gene Tree for ERV3-1 (if available)

Paralogs for ERV3-1 Gene

Pseudogenes.org Pseudogenes for ERV3-1 Gene

genes like me logo Genes that share paralogs with ERV3-1: view

No data available for Paralogs for ERV3-1 Gene

Variants for ERV3-1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ERV3-1 Gene

Q14264-ENR1_HUMAN
This envelope gene is polymorphic with at least five different alleles. A mutation introducing a premature stop codon instead of amino acid 223 is present in approximately 1% of the Caucasian population

Sequence variations from dbSNP and Humsavar for ERV3-1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs1057518 -- 65,006,397(-) GCCCT(A/C)AGTCC intron-variant
rs1062025 -- 65,005,130(+) gctac(A/G)ctcca intron-variant
rs1062026 -- 65,005,138(+) ccaac(A/T)tcagg intron-variant
rs1113862 -- 64,994,281(-) cacta(G/T)aaacg intron-variant
rs1589816 -- 64,994,179(+) gggcc(A/C)ttgtc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ERV3-1 Gene

Variant ID Type Subtype PubMed ID
dgv1147e201 CNV Deletion 23290073
esv2422405 CNV Duplication 17116639
nsv464518 CNV Gain 19166990
dgv7308n71 CNV Gain 21882294
dgv7309n71 CNV Gain 21882294
dgv226e55 CNV Loss 17911159
nsv888284 CNV Gain 21882294
nsv517778 CNV Gain+Loss 19592680

Variation tolerance for ERV3-1 Gene

Residual Variation Intolerance Score: 91.16% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.01; 90.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ERV3-1 Gene

HapMap Linkage Disequilibrium report
ERV3-1

Disorders for ERV3-1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ERV3-1 Gene - From: OMIM, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
wagner syndrome 1
  • erosive vitreoretinopathy
choriocarcinoma
  • chorioepithelioma
- elite association

Relevant External Links for ERV3-1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ERV3-1
genes like me logo Genes that share disorders with ERV3-1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ERV3-1 Gene

Publications for ERV3-1 Gene

  1. A revised nomenclature for transcribed human endogenous retroviral loci. (PMID: 21542922) Mayer J. … Seal R.L. (Mob DNA 2011) 2 67
  2. Comparative methylation of ERVWE1/syncytin-1 and other human endogenous retrovirus LTRs in placenta tissues. (PMID: 19561344) Gimenez J. … Mallet F. (DNA Res. 2009) 23 67
  3. Expression of multiple human endogenous retrovirus surface envelope proteins in ovarian cancer. (PMID: 17013901) Wang-Johanning F. … Johanning G.L. (Int. J. Cancer 2007) 23 67
  4. New simian beta retroviruses from rhesus monkeys (Macaca mulatta) and langurs (Semnopithecus entellus) from Rajasthan, India. (PMID: 16791425) Nandi J.S. … Mohnot S.M. (Virus Genes 2006) 23 67
  5. Human Endogenous Retrovirus (HERV)-R family in primates: Chromosomal location, gene expression, and evolution. (PMID: 16443335) Kim H.S. … Lee W.H. (Gene 2006) 23 67

Products for ERV3-1 Gene

Sources for ERV3-1 Gene

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