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... See more...

Aliases for ERVV-1 Gene

Aliases for ERVV-1 Gene

  • Endogenous Retrovirus Group V Member 1, Envelope 2 3 5
  • ENVV1 2 3 4
  • Endogenous Retrovirus Group V Member 1 Env Polyprotein 3 4
  • HERV-V_19q13.41 Provirus Ancestral Env Polyprotein 1 3 4
  • Endogenous Retrovirus Group V, Member 1 2 3
  • HERV-V1 2 3
  • Endogenous Retrovirus Group V, Member 2 3
  • Endogenous Retrovirus Group V Member 1 2
  • Envelope Glycoprotein ENVV1 3
  • Envelope Protein ENVV1 3
  • FLJ32214 2
  • ERVV-1 5

External Ids for ERVV-1 Gene

Previous GeneCards Identifiers for ERVV-1 Gene

  • GC19P053519

Summaries for ERVV-1 Gene

Entrez Gene Summary for ERVV-1 Gene

  • 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]

GeneCards Summary for ERVV-1 Gene

ERVV-1 (Endogenous Retrovirus Group V Member 1, Envelope) is a Protein Coding gene. Diseases associated with ERVV-1 include Epilepsy, Juvenile Absence 1. An important paralog of this gene is ERVV-2.

Additional gene information for ERVV-1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ERVV-1 Gene

Genomics for ERVV-1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ERVV-1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ERVV-1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ERVV-1

Genomic Locations for ERVV-1 Gene

Genomic Locations for ERVV-1 Gene
chr19:53,013,921-53,016,580
(GRCh38/hg38)
Size:
2,660 bases
Orientation:
Plus strand
chr19:53,517,174-53,519,833
(GRCh37/hg19)
Size:
2,660 bases
Orientation:
Plus strand

Genomic View for ERVV-1 Gene

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

Cytogenetic band:
ERVV-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 ERVV-1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERVV-1 Gene

Proteins for ERVV-1 Gene

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

    Protein Symbol:
    B6SEH8-ERVV1_HUMAN
    Recommended name:
    Endogenous retrovirus group V member 1 Env polyprotein
    Protein Accession:
    B6SEH8

    Protein attributes for ERVV-1 Gene

    Size:
    477 amino acids
    Molecular mass:
    52557 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ERVV-1 Gene

Post-translational modifications for ERVV-1 Gene

  • Glycosylation at Asn68

Other Protein References for ERVV-1 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Domains & Families for ERVV-1 Gene

Gene Families for ERVV-1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for ERVV-1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ERVV-1 Gene

GenScript: Design optimal peptide antigens:
  • Endogenous retrovirus group V, member 1 (ERVV1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

B6SEH8

UniProtKB/Swiss-Prot:

ERVV1_HUMAN :
  • Belongs to the gamma type-C retroviral envelope protein family.
Family:
  • Belongs to the gamma type-C retroviral envelope protein family.
genes like me logo Genes that share domains with ERVV-1: view

Function for ERVV-1 Gene

Phenotypes for ERVV-1 Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERVV-1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ERVV-1 Gene

Localization for ERVV-1 Gene

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

Membrane. Single-pass type I membrane protein.

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 ERVV-1 gene
Compartment Confidence
plasma membrane 1
extracellular 1
nucleus 1

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ERVV-1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ERVV-1 Gene

Pathways & Interactions for ERVV-1 Gene

PathCards logo

SuperPathways for ERVV-1 Gene

No Data Available

Interacting Proteins for ERVV-1 Gene

Selected Interacting proteins: B6SEH8-ERVV1_HUMAN for ERVV-1 Gene via IID

Symbol External ID(s) Details
SMAD9

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0000768 syncytium formation by plasma membrane fusion IBA --
genes like me logo Genes that share ontologies with ERVV-1: view

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

Drugs & Compounds for ERVV-1 Gene

No Compound Related Data Available

Transcripts for ERVV-1 Gene

mRNA/cDNA for ERVV-1 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERVV-1

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

No ASD Table

Relevant External Links for ERVV-1 Gene

GeneLoc Exon Structure for
ERVV-1

Expression for ERVV-1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ERVV-1 Gene

mRNA differential expression in normal tissues according to GTEx for ERVV-1 Gene

This gene is overexpressed in Brain - Cerebellum (x12.7), Brain - Cerebellar Hemisphere (x11.2), Bladder (x4.3), and Vagina (x4.2).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ERVV-1

SOURCE GeneReport for Unigene cluster for ERVV-1 Gene:

Hs.44329

mRNA Expression by UniProt/SwissProt for ERVV-1 Gene:

B6SEH8-ERVV1_HUMAN
Tissue specificity: Expressed in placenta.
genes like me logo Genes that share expression patterns with ERVV-1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ERVV-1 Gene

Orthologs for ERVV-1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ERVV-1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ERVV-1 30
  • 98.57 (n)
Dog
(Canis familiaris)
Mammalia -- 31
  • 41 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 17 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 30 (a)
ManyToMany
-- 31
  • 30 (a)
ManyToMany
-- 31
  • 30 (a)
ManyToMany
-- 31
  • 30 (a)
ManyToMany
-- 31
  • 30 (a)
ManyToMany
-- 31
  • 30 (a)
ManyToMany
-- 31
  • 30 (a)
ManyToMany
-- 31
  • 25 (a)
ManyToMany
-- 31
  • 20 (a)
ManyToMany
Species where no ortholog for ERVV-1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • 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 Vase (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 ERVV-1 Gene

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

Paralogs for ERVV-1 Gene

Paralogs for ERVV-1 Gene

(3) SIMAP similar genes for ERVV-1 Gene using alignment to 1 proteins:

  • ERVV1_HUMAN
genes like me logo Genes that share paralogs with ERVV-1: view

Variants for ERVV-1 Gene

Additional dbSNP identifiers (rs#s) for ERVV-1 Gene

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

Variant ID Type Subtype PubMed ID
dgv1070e212 CNV gain 25503493
dgv1810n106 CNV duplication 24896259
dgv3640n100 CNV gain 25217958
dgv3641n100 CNV gain 25217958
dgv3642n100 CNV gain+loss 25217958
dgv3643n100 CNV gain 25217958
dgv427n27 CNV gain 19166990
dgv428n27 CNV gain 19166990
dgv597n67 CNV gain 20364138
dgv6530n54 CNV gain 21841781
dgv75e203 CNV gain 21179565
esv22342 CNV loss 19812545
esv2421539 CNV duplication 20811451
esv2672399 CNV deletion 23128226
esv2718787 CNV deletion 23290073
esv2758769 CNV loss 17122850
esv32872 CNV gain 17666407
esv3644731 CNV loss 21293372
esv3893238 CNV gain+loss 25118596
nsv1061849 CNV gain 25217958
nsv1066762 CNV gain 25217958
nsv1078889 OTHER inversion 25765185
nsv1141887 OTHER inversion 24896259
nsv1160661 CNV deletion 26073780
nsv428370 CNV loss 18775914
nsv442772 CNV loss 18776908
nsv511612 CNV gain 21212237
nsv513759 CNV insertion 21212237
nsv515506 CNV gain+loss 19592680
nsv528740 CNV gain 19592680
nsv580030 CNV gain 21841781
nsv580046 CNV gain 21841781
nsv580047 CNV gain 21841781
nsv820081 CNV loss 19587683
nsv820366 CNV duplication 20802225
nsv963072 CNV duplication 23825009
nsv9747 CNV loss 18304495

Variation tolerance for ERVV-1 Gene

Gene Damage Index Score: 5.40; 71.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ERVV-1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ERVV-1 Gene

Disorders for ERVV-1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ERVV-1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
epilepsy, juvenile absence 1
  • epilepsy, juvenile absence, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ERVV-1

genes like me logo Genes that share disorders with ERVV-1: view

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

Publications for ERVV-1 Gene

  1. Gene conversion and purifying selection of a placenta-specific ERV-V envelope gene during simian evolution. (PMID: 18826608) Kjeldbjerg AL … Pedersen FS (BMC evolutionary biology 2008) 2 3 4
  2. A revised nomenclature for transcribed human endogenous retroviral loci. (PMID: 21542922) Mayer J … Seal RL (Mobile DNA 2011) 2 3
  3. Differential evolutionary fate of an ancestral primate endogenous retrovirus envelope gene, the EnvV syncytin, captured for a function in placentation. (PMID: 23555306) Esnault C … Heidmann T (PLoS genetics 2013) 3
  4. Reactivation of codogenic endogenous retroviral (ERV) envelope genes in human endometrial carcinoma and prestages: Emergence of new molecular targets. (PMID: 23085571) Strissel PL … Strick R (Oncotarget 2012) 3
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

Products for ERVV-1 Gene

  • Signalway ELISA kits for ERVV-1
  • Signalway Proteins for ERVV-1

Sources for ERVV-1 Gene