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Aliases for ERVW-1 Gene

Aliases for ERVW-1 Gene

  • Endogenous Retrovirus Group W Member 1, Envelope 2 3
  • Endogenous Retrovirus Group W Member 1 2 3 4 5
  • HERV-7q Envelope Protein 2 3 4
  • Enverin 2 3 4
  • Endogenous Retroviral Family W, Env(C7), Member 1 2 3
  • HERV-W_7q21.2 Provirus Ancestral Env Polyprotein 3 4
  • HERV-Tryptophan Envelope Protein 2 3
  • Envelope Polyprotein GPr73 3 4
  • HERV-W Env Glycoprotein 2 3
  • HERV-W Envelope Protein 3 4
  • Envelope Glycoprotein 2 3
  • Syncytin-1 2 3
  • Syncytin 2 4
  • ERVWE1 3 4
  • Human Endogenous Retrovirus W EnvC7-1 Envelope Protein 3
  • HERV-W{7q21.1} Provirus Ancestral Env Polyprotein 2
  • Endogenous Retrovirus Group W, Member 1 2
  • Envelope Protein 2
  • HERV-W-ENV 3
  • HERVWENV 3
  • HERV-7q 3
  • HERV7Q 3
  • HERVW 3
  • Env-W 4
  • ENVW 3
  • Env 3

External Ids for ERVW-1 Gene

Previous HGNC Symbols for ERVW-1 Gene

  • ERVWE1

Previous GeneCards Identifiers for ERVW-1 Gene

  • GC07M092098

Summaries for ERVW-1 Gene

Entrez Gene Summary for ERVW-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 chromosome 7 that has inactivating mutations in the gag and pol genes. This gene is the envelope glycoprotein gene which appears to have been selectively preserved. The gene's protein product is expressed in the placental syncytiotrophoblast and is involved in fusion of the cytotrophoblast cells to form the syncytial layer of the placenta. The protein has the characteristics of a typical retroviral envelope protein, including a furin cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010]

GeneCards Summary for ERVW-1 Gene

ERVW-1 (Endogenous Retrovirus Group W Member 1, Envelope) is a Protein Coding gene. Diseases associated with ERVW-1 include Vaccinia and Louping Ill. An important paralog of this gene is ERVFRD-1.

UniProtKB/Swiss-Prot for ERVW-1 Gene

  • This endogenous retroviral envelope protein has retained its original fusogenic properties and participates in trophoblast fusion and the formation of a syncytium during placenta morphogenesis. May induce fusion through binding of SLC1A4 and SLC1A5 (PubMed:10708449, PubMed:12050356, PubMed:23492904).

  • Endogenous envelope proteins may have kept, lost or modified their original function during evolution. Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. The surface protein (SU) mediates receptor recognition, while the transmembrane protein (TM) acts as a class I viral fusion protein. The protein may have at least 3 conformational states: pre-fusion native state, pre-hairpin intermediate state, and post-fusion hairpin state. During viral and target cell membrane fusion, the coiled coil regions (heptad repeats) assume a trimer-of-hairpins structure, positioning the fusion peptide in close proximity to the C-terminal region of the ectodomain. The formation of this structure appears to drive apposition and subsequent fusion of membranes.

Gene Wiki entry for ERVW-1 Gene

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

Genomics for ERVW-1 Gene

Regulatory Elements for ERVW-1 Gene

Enhancers for ERVW-1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G092178 1 ENCODE 10.6 +298.8 298777 1.5 ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 GLIS2 ZNF143 ZNF263 KAT8 CYP51A1 ERVW-1 KRIT1 LRRD1
GH07G092530 1 dbSUPER 10 -56.1 -56080 6.3 ATF1 PKNOX1 ARNT FEZF1 ZNF2 TCF12 ZNF766 GATA2 NCOA1 ZHX2 GATAD1 FAM133B ERVW-1 RBM48 GC07P092539
GH07G092402 0.8 Ensembl ENCODE 10.2 +74.7 74707 2.1 CTCF HLF MAFG MAX REST MYC MAFK KRIT1 ANKIB1 ERVW-1 CYP51A1 GC07P092389 TMBIM7P
GH07G092075 0.7 ENCODE 9.9 +401.5 401547 1.8 JUNB DPF2 RAD21 ZBTB7B CTBP1 ARID3A JUND RAD51 GATA3 FOSL2 CYP51A1 ERVW-1 PIR53585 GC07P092082
GH07G092177 0.6 ENCODE 10.6 +300.4 300353 1.0 PKNOX1 PRDM6 JUND PBX2 FOS PRDM1 SP7 CYP51A1 ERVW-1 LRRD1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ERVW-1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ERVW-1 Gene

Chromosome:
7
Start:
92,468,380 bp from pter
End:
92,477,986 bp from pter
Size:
9,607 bases
Orientation:
Minus strand

Genomic View for ERVW-1 Gene

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

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

RefSeq DNA sequence for ERVW-1 Gene

Proteins for ERVW-1 Gene

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

    Protein Symbol:
    Q9UQF0-SYCY1_HUMAN
    Recommended name:
    Syncytin-1
    Protein Accession:
    Q9UQF0
    Secondary Accessions:
    • B2RPD4
    • O95244
    • O95245
    • Q8NHY7
    • Q9NRZ2
    • Q9NZG3

    Protein attributes for ERVW-1 Gene

    Size:
    538 amino acids
    Molecular mass:
    59866 Da
    Quaternary structure:
    • The mature envelope protein (Env) consists of a trimer of SU-TM heterodimers attached probably by a labile interchain disulfide bond. Interacts with the C-type lectin CD209/DC-SIGN.
    Miscellaneous:
    • HERV-W family subgenomic RNAs have been observed.
    • It can make pseudotypes with HIV-1 virions and confer infectivity. Can also induce cellular resistance to spleen necrosis virus in vitro.
    • Orthologs in Pan troglodytes, Gorilla gorilla, Pongo pygmaeus and Hylobates moloch.
    • Probably involved in the development of multiple sclerosis (MS). MS is a neurodegenerative disease characterized by the gradual accumulation of focal plaques of demyelination particularly in the periventricular areas of the brain. It leads to physical and cognitive disabilities. Viral particles or intracellular RNA of HERV-W family members have been detected in tissue from patients with multiple sclerosis or schizophrenia.
    • The human genome contains a high percentage of proviral-like elements, also called endogenous retroviruses (ERVs) that are the genomic traces of ancient infections of the germline by exogenous retroviruses. Although most of these elements are defective, some have conserved a functional envelope (env) gene, most probably diverted by the host for its benefit.
    • This provirus is intergenic, the closest flanking genes being ODAG and PEX1.

neXtProt entry for ERVW-1 Gene

Post-translational modifications for ERVW-1 Gene

  • Specific enzymatic cleavages in vivo yield mature proteins. Envelope glycoproteins are synthesized as a inactive precursor that is heavily N-glycosylated and processed likely by furin in the Golgi to yield the mature SU and TM proteins. The cleavage site between SU and TM requires the minimal sequence [KR]-X-[KR]-R. The intracytoplasmic tail cleavage by the viral protease that is required for the fusiogenic activity of some retroviruses envelope proteins seems to have been lost during evolution.
  • 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 isoforms=169, isoforms=208, Asn214, Asn234, isoforms=242, Asn281, and isoforms=409
  • Modification sites at PhosphoSitePlus

Other Protein References for ERVW-1 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Domains & Families for ERVW-1 Gene

Protein Domains for ERVW-1 Gene

Suggested Antigen Peptide Sequences for ERVW-1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UQF0

UniProtKB/Swiss-Prot:

SYCY1_HUMAN :
  • The cytoplasmic region is essential for the fusiogenic function.
  • Belongs to the gamma type-C retroviral envelope protein family. HERV class-I W env subfamily.
Domain:
  • The cytoplasmic region is essential for the fusiogenic function.
  • The 17 amino acids long immunosuppressive region is present in many retroviral envelope proteins. Synthetic peptides derived from this relatively conserved sequence inhibit immune function in vitro and in vivo (By similarity).
Family:
  • Belongs to the gamma type-C retroviral envelope protein family. HERV class-I W env subfamily.
genes like me logo Genes that share domains with ERVW-1: view

No data available for Gene Families for ERVW-1 Gene

Function for ERVW-1 Gene

Molecular function for ERVW-1 Gene

UniProtKB/Swiss-Prot Function:
This endogenous retroviral envelope protein has retained its original fusogenic properties and participates in trophoblast fusion and the formation of a syncytium during placenta morphogenesis. May induce fusion through binding of SLC1A4 and SLC1A5 (PubMed:10708449, PubMed:12050356, PubMed:23492904).
UniProtKB/Swiss-Prot Function:
Endogenous envelope proteins may have kept, lost or modified their original function during evolution. Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. The surface protein (SU) mediates receptor recognition, while the transmembrane protein (TM) acts as a class I viral fusion protein. The protein may have at least 3 conformational states: pre-fusion native state, pre-hairpin intermediate state, and post-fusion hairpin state. During viral and target cell membrane fusion, the coiled coil regions (heptad repeats) assume a trimer-of-hairpins structure, positioning the fusion peptide in close proximity to the C-terminal region of the ectodomain. The formation of this structure appears to drive apposition and subsequent fusion of membranes.
genes like me logo Genes that share phenotypes with ERVW-1: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ERVW-1 Gene

Localization for ERVW-1 Gene

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

Transmembrane protein: Cell membrane; Single-pass type I membrane protein.
Surface protein: Cell membrane; Peripheral membrane protein. Note=The surface protein is not anchored to the membrane, but localizes to the extracellular surface through its binding to TM. {ECO:0000250}.
Syncytin-1: Virion.

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 ERVW-1 gene
Compartment Confidence
plasma membrane 5
extracellular 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
golgi apparatus 2
endosome 2
cytoskeleton 1
mitochondrion 1
lysosome 1

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0019012 virion IEA --
GO:0019031 viral envelope IEA --
genes like me logo Genes that share ontologies with ERVW-1: view

Pathways & Interactions for ERVW-1 Gene

SuperPathways for ERVW-1 Gene

No Data Available

Interacting Proteins for ERVW-1 Gene

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0006949 syncytium formation IDA 23492904
GO:0009653 anatomical structure morphogenesis TAS 10693809
genes like me logo Genes that share ontologies with ERVW-1: view

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

Drugs & Compounds for ERVW-1 Gene

(19) Drugs for ERVW-1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(16) Additional Compounds for ERVW-1 Gene - From: Novoseek

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

Transcripts for ERVW-1 Gene

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

No ASD Table

Relevant External Links for ERVW-1 Gene

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

Expression for ERVW-1 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Testis (x31.4).

Protein differential expression in normal tissues from HIPED for ERVW-1 Gene

This gene is overexpressed in Placenta (54.2) and Heart (14.8).

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



Protein tissue co-expression partners for ERVW-1 Gene

- Elite partner

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

Q9UQF0-SYCY1_HUMAN
Tissue specificity: Expressed at higher level in placental syncytiotrophoblast. Expressed at intermediate level in testis. Seems also to be found at low level in adrenal tissue, bone marrow, breast, colon, kidney, ovary, prostate, skin, spleen, thymus, thyroid, brain and trachea. Both mRNA and protein levels are significantly increased in the brain of individuals with multiple sclerosis, particularly in astrocytes and microglia.

Evidence on tissue expression from TISSUES for ERVW-1 Gene

  • Blood(3)
  • Spleen(2.1)
  • Kidney(2)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with ERVW-1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ERVW-1 Gene

Orthologs for ERVW-1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for ERVW-1 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia LOC102154491 34
  • 51.5 (n)
mouse
(Mus musculus)
Mammalia SYNB 35
  • 22 (a)
ManyToMany
Synb 35
  • 22 (a)
ManyToMany
Syna 35
  • 21 (a)
ManyToMany
BC035947 35
  • 12 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 17 (a)
OneToMany
-- 35
  • 9 (a)
OneToMany
Species where no ortholog for ERVW-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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • 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 ERVW-1 Gene

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

Paralogs for ERVW-1 Gene

Paralogs for ERVW-1 Gene

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

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

Variants for ERVW-1 Gene

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

SYCY1_HUMAN-Q9UQF0
All variants have fusogenic properties.

Sequence variations from dbSNP and Humsavar for ERVW-1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000442831 -- 92,474,858(+) GGGCC(A/G)AATTC intron-variant
rs1000880209 -- 92,475,153(+) TGTAA(A/G)ATGGT intron-variant
rs1001182771 -- 92,473,451(+) CTTGA(A/C)CAGGA intron-variant
rs1001337140 -- 92,472,932(+) GGCCA(A/C)AAGTA intron-variant, upstream-variant-2KB
rs1001706588 -- 92,469,230(+) AAAGC(C/T)CTTCG intron-variant, reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
esv3614140 CNV loss 21293372
nsv5840 CNV insertion 18451855

Variation tolerance for ERVW-1 Gene

Residual Variation Intolerance Score: 88.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.15; 61.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ERVW-1 Gene

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

Disorders for ERVW-1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
vaccinia
louping ill
t-cell leukemia
  • leukemia t-cell
choriocarcinoma
  • chorioepithelioma
human immunodeficiency virus infectious disease
  • hiv infection
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ERVW-1

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

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

Publications for ERVW-1 Gene

  1. Molecular characterization and placental expression of HERV-W, a new human endogenous retrovirus family. (PMID: 9882319) Blond J.-L. … Mallet F. (J. Virol. 1999) 2 3 4 22 64
  2. Synthesis, assembly, and processing of the Env ERVWE1/syncytin human endogenous retroviral envelope. (PMID: 15827173) Cheynet V. … Mallet F. (J. Virol. 2005) 3 4 22 64
  3. Evidence of selection on the domesticated ERVWE1 env retroviral element involved in placentation. (PMID: 15254254) Bonnaud B. … Mallet F. (Mol. Biol. Evol. 2004) 3 4 22 64
  4. Genomewide screening for fusogenic human endogenous retrovirus envelopes identifies syncytin 2, a gene conserved on primate evolution. (PMID: 14557543) Blaise S. … Heidmann T. (Proc. Natl. Acad. Sci. U.S.A. 2003) 3 4 22 64
  5. Temporal regulation of the expression of syncytin (HERV-W), maternally imprinted PEG10, and SGCE in human placenta. (PMID: 12620933) Smallwood A. … Banerjee S. (Biol. Reprod. 2003) 3 4 22 64

Products for ERVW-1 Gene

Sources for ERVW-1 Gene

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