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Aliases for ERV3-1 Gene

Aliases for ERV3-1 Gene

  • Endogenous Retrovirus Group 3 Member 1, Envelope 2 3 5
  • HERV-R_7q21.2 Provirus Ancestral Env Polyprotein 3 4
  • Endogenous Retrovirus Group 3, Member 1 2 3
  • Endogenous Retroviral Sequence 3 2 3
  • ERV3-1 Envelope Protein 3 4
  • HERV-R 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
  • Endogenous Retrovirus Group 3 Member 1 Env Polyprotein 3
  • Endogenous Retrovirus Group 3 Member 1 2
  • ERV-3 Envelope Protein 4
  • 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

  • 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]

GeneCards Summary for ERV3-1 Gene

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

Additional gene information for ERV3-1 Gene

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

Genomics for ERV3-1 Gene

GeneHancer (GH) Regulatory Elements for ERV3-1 Gene

Promoters and enhancers for ERV3-1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I064995 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 588.2 +4.9 4861 11.8 MLX DMAP1 YY1 E2F8 ZNF143 SP3 NFYC MEF2D SSRP1 RCOR2 ERV3-1 GTF2IP14 CCT6P3 INTS4P1 ZNF117 CCT6P1 VKORC1L1 ZNF736 ENSG00000227113 EEF1DP4
GH07I064664 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.4 +340.3 340291 3.2 PKNOX1 SMAD1 ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 ZNF207 ZNF143 ZNF107 CCT6P3 GTF2IP14 ZNF736 LOC441239 ERV3-1 SEPHS1P1 ZNF138 MIR6839
GH07I065373 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.4 -367.5 -367509 2.1 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 FOS SP3 ZNF92 GTF2IP14 GUSB CCT6P1 ZNF107 CCT6P3 ERV3-1 ENSG00000238124
GH07I065260 Enhancer 0.8 Ensembl 22.9 -254.0 -253987 0.7 HDAC1 ATF1 ARNT ZSCAN4 KLF17 MZF1 FEZF1 CHAMP1 TCF12 ZBTB2 CLUHP7 GTF2IP14 ERV3-1 ZNF117 CRCP ENSG00000229064
GH07I064792 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 6.1 +212.6 212603 2.8 PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 ZNF2 ZBTB7B YY1 POLR2B ZNF138 EEF1DP4 GABPAP GTF2IP14 ERV3-1 ZNF107 ENSG00000234338 ENSG00000277206
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ERV3-1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ERV3-1 Gene

Genomic Locations for ERV3-1 Gene
chr7:64,990,355-65,006,746
(GRCh38/hg38)
Size:
16,392 bases
Orientation:
Minus strand
chr7:64,450,733-64,467,124
(GRCh37/hg19)

Genomic View for ERV3-1 Gene

Genes around ERV3-1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERV3-1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERV3-1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

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 posLast=6464, Asn105, posLast=201201, Asn316, posLast=369369, Asn382, Asn399, Asn527, and posLast=569569

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

Gene 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

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

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ERV3-1 gene
Compartment Confidence
extracellular 5
plasma membrane 2
mitochondrion 2
nucleus 2
cytosol 2
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0019012 virion IEA --
GO:0019031 viral envelope IEA --
GO:0070062 extracellular exosome HDA,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

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
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

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for ERV3-1 Gene

- Elite partner

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.

Evidence on tissue expression from TISSUES for ERV3-1 Gene

  • Adrenal gland(2.2)
genes like me logo Genes that share expression patterns with ERV3-1: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 99.23 (n)
Species where no ortholog for ERV3-1 was found in the sources mined by GeneCards:
  • 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

ENR1_HUMAN-Q14264
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 (PubMed:9525678).

Sequence variations from dbSNP and Humsavar for ERV3-1 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000100520 -- 64,999,584(-) A/C intron_variant
rs1000209557 -- 64,996,481(-) T/C intron_variant
rs1000269361 -- 65,001,797(-) ACACA/ACA intron_variant
rs1000315821 -- 64,989,997(-) G/C downstream_transcript_variant
rs1000366499 -- 64,990,290(-) C/T downstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv1099e201 CNV deletion 23290073
dgv226e55 CNV loss 17911159
esv2422405 CNV duplication 17116639
nsv1019180 CNV loss 25217958
nsv1022042 CNV gain 25217958
nsv464518 CNV gain 19166990
nsv517778 CNV gain+loss 19592680
nsv607312 CNV gain 21841781
nsv970505 CNV duplication 23825009

Variation tolerance for ERV3-1 Gene

Residual Variation Intolerance Score: 91.2% 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)

Additional Variant Information for ERV3-1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERV3-1

Disorders for ERV3-1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ERV3-1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
choriocarcinoma
  • chorioepithelioma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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. Physiological knockout of the envelope gene of the single-copy ERV-3 human endogenous retrovirus in a fraction of the Caucasian population. (PMID: 9525678) de Parseval N … Heidmann T (Journal of virology 1998) 3 4 22 58
  2. Large number of polymorphic nucleotides and a termination codon in the env gene of the endogenous human retrovirus ERV3. (PMID: 10427470) Rasmussen HB … Clausen J (Disease markers 1998) 3 4 22 58
  3. A revised nomenclature for transcribed human endogenous retroviral loci. (PMID: 21542922) Mayer J … Seal RL (Mobile DNA 2011) 2 3 58
  4. ERV3 and related sequences in humans: structure and RNA expression. (PMID: 15994821) Andersson AC … Blomberg J (Journal of virology 2005) 3 22 58
  5. Conservation and loss of the ERV3 open reading frame in primates. (PMID: 15081124) Hervé CA … Venables PJ (Genomics 2004) 3 22 58

Products for ERV3-1 Gene

Sources for ERV3-1 Gene

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