PEG10 Gene Summary [Human]
This is a paternally expressed imprinted gene that is thought to have been derived from the Ty3/Gypsy family of retrotransposons. It contains two overlapping open reading frames, RF1 and RF2, and expresses two proteins: a shorter, gag-like protein (with a CCHC-type zinc finger domain) from RF1; and a longer, gag/pol-like fusion protein (with an additional aspartic protease motif) from RF1/RF2 by -1 translational frameshifting (-1 FS). While -1 FS has been observed in RNA viruses and transposons in both prokaryotes and eukaryotes, this gene represents the first example of -1 FS in a eukaryotic cellular gene. This gene is highly conserved across mammalian species and retains the heptanucleotide (GGGAAAC) and pseudoknot elements required for -1 FS. It is expressed in adult and embryonic tissues (most notably in placenta) and reported to have a role in cell proliferation, differentiation and apoptosis. Overexpression of this gene has been associated with several malignancies, such as hepatocellular carcinoma and B-cell lymphocytic leukemia. Knockout mice lacking this gene showed early embryonic lethality with placental defects, indicating the importance of this gene in embryonic development. Additional isoforms resulting from alternatively spliced transcript variants, and use of upstream non-AUG (CUG) start codon have been reported for this gene. [provided by RefSeq, Oct 2014]
Details
| Type | Protein Coding |
| Official Symbol | PEG10 |
| Official Name | paternally expressed 10 [Source:HGNC Symbol;Acc:HGNC:14005] |
| Ensembl ID | ENSG00000242265 |
| Bio databases IDs | |
| Aliases | paternally expressed 10, Sushi-Ichi retrotransposon homolog 1, mammalian retrotransposon-derived 2, retrotransposon Gag like 2 |
| Synonyms | AA407948, EDR, HB-1, Mar2, Mart2, MEF3L, MmPEG10, MyEF-3, paternally expressed 10, PEG10-RF1, RGAG3, RTL2, SIRH1 |
| Species | Human, Homo sapiens |
| Orthologies |
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 PEG10 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ty3 transposon capsid-like protein
- mRNA binding
- protein binding
- Retrotransposon gag protein
- Cellular and retroviral pepsin-like aspartate proteases
- gag-polyprotein putative aspartyl protease
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- liver cancer
- epithelial cancer
- nonalcoholic steatohepatitis
- multiple system atrophy
- hepatocellular carcinoma
- early-onset preeclampsia
- hepatitis B virus-related hepatocellular carcinoma
- growth failure
regulates
- reporter gene
role in cell
- proliferation
- cell death
- growth
- size
- abnormal morphology
- differentiation
- colony formation by
- morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- extracellular vesicles
- cytoskeleton
- Cytoplasm
- Plasma Membrane
- vesicles
- cytosol
- nucleoplasm
- rough endoplasmatic reticulum
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PEG10 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- apoptotic process
- protein homooligomerization
- cell differentiation
- mRNA transport
- negative regulation of transforming growth factor beta receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- membrane
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- zinc ion binding
- protein binding
- RNA binding
- mRNA binding