ERVW-1 (Endogenous Retrovirus Group W Member 1, Envelope)
Syncytin-1: A Placental Fusogen and Immunomodulator Encoded by a Human Endogenous Retrovirus
Gene Information Card
| Symbol | ERVW-1 |
|---|---|
| Full Name | Endogenous Retrovirus Group W Member 1, Envelope |
| Gene Type | Protein coding |
| Chromosomal Location | 7q21.2 |
| NCBI Gene ID | 30816 ncbi.nlm.nih.gov/gene/30816 |
| Ensembl ID | ENSG00000142945 |
| UniProt ID | Q9UQF0 |
| OMIM ID | 604525 |
| HGNC ID | 13529 |
| Aliases | HERV-W-ENV, ENV, ENVW, syncytin-1 |
Description
ERVW-1 (Endogenous Retrovirus Group W Member 1, Envelope) encodes the envelope glycoprotein syncytin-1, a fusogenic protein derived from a human endogenous retrovirus (HERV-W). Syncytin-1 mediates cell-cell fusion and is essential for syncytiotrophoblast formation during placental development. It also exhibits immunosuppressive properties and has been implicated in various physiological and pathological processes, including pregnancy, multiple sclerosis, and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Preeclampsia | Reduced syncytin-1 expression impairs syncytiotrophoblast fusion, leading to placental dysfunction. | PMID: 12897202, 19033680 |
| Multiple sclerosis | Aberrant expression of HERV-W Env (syncytin-1) in glial cells may contribute to neuroinflammation and demyelination. | PMID: 11592071, 23300460 |
| Breast cancer | Syncytin-1 overexpression in tumor cells may promote cell fusion and metastasis. | PMID: 17699758, 21444763 |
| Endometriosis | Ectopic expression of syncytin-1 in endometrial tissues may facilitate lesion formation. | PMID: 17071712 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | High | High |
| Testis | Low | Low |
| Brain | Low | Low |
| Lung | Not detected | Not detected |
| Liver | Not detected | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| BeWo (choriocarcinoma) | High | Fusogenic trophoblast model |
| JEG-3 (choriocarcinoma) | Moderate | Trophoblast-like |
| SH-SY5Y (neuroblastoma) | Low | Neuronal model |
| U87MG (glioblastoma) | Low | Glial model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Potential loss of start codon; functional impact unknown |
| c.142C>T (p.Arg48Cys) | Missense | Rare | May affect envelope fusion activity |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the fusion peptide or receptor-binding domain (e.g., RBD) likely impair syncytiotrophoblast fusion, potentially contributing to placental insufficiency.
Gain of Function (GOF)
Overexpression or activating mutations in the fusion domain may enhance cell fusion, promoting tumor progression or viral mimicry.
Dominant Negative (DN)
Truncated or misfolded envelope proteins could interfere with wild-type syncytin-1 trafficking or fusion, though not well documented.
View complete mutation data：
Gene Ontology (GO)
| • syncytium formation (GO:0006949) | • integral component of membrane (GO:0016021) |
| • protein binding (GO:0005515) | • host cell surface receptor binding (GO:0046789) |
| • viral entry into host cell (GO:0046718) | • plasma membrane (GO:0005886) |
Pathways
• Cell-cell fusion (syncytiotrophoblast formation)
• Endogenous retroviral envelope protein signaling
• Immunosuppression via T-cell inhibition
Protein Summary
Syncytin-1 is a 538-amino-acid envelope glycoprotein with a signal peptide, a surface subunit (SU) containing a receptor-binding domain, and a transmembrane subunit (TM) with a fusion peptide. It mediates pH-dependent cell-cell fusion by binding to the ASCT2 (SLC1A5) receptor. The protein also contains an immunosuppressive domain that may protect the fetus from maternal immune rejection. Post-translational modifications include N-glycosylation and proteolytic cleavage.
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