ERVFRD-1 Gene Summary [Human]

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 a human endogenous retrovirus provirus on chromosome 6 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 plays a major role in placental development and trophoblast fusion. The protein has the characteristics of a typical retroviral envelope protein, including a cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer. [provided by RefSeq, Jun 2012]

Details

Type
Protein Coding
Official Symbol
ERVFRD-1
Official Name
endogenous retrovirus group FRD member 1, envelope [Source:HGNC Symbol;Acc:HGNC:33823]
Ensembl ID
ENSG00000244476
Bio databases IDs NCBI: 405754 Ensembl: ENSG00000244476
Aliases endogenous retrovirus group FRD member 1, envelope, syncytin 2
Synonyms endogenous retrovirus group FRD member 1, envelope, envFRD, ERVFRDE1, GLLL6191, HERV-FRD, HERV-W/FRD, Syn2, Syncytin-2, UNQ6191
Species
Human, Homo sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ERVFRD-1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • protein binding
  • Ebola_HIV-1-like_HR1-HR2

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • preeclampsia
regulated by
  • TNF
  • SB203580
  • PD173074
  • BMP4
  • A-83-01
  • alpha-tocopherol
role in cell
  • formation
  • fusion
  • cell-cell fusion
  • uptake

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Unknown

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human ERVFRD-1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • syncytium formation
  • myoblast fusion
  • syncytium formation by plasma membrane fusion

Cellular Component

Where in the cell the gene product is active
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • protein binding

Gene-Specific Assays for Results You Can Trust

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