PEG10

Description

The PEG10 (paternally expressed 10) is a protein-coding gene located on chromosome 7.

PEG10 is a protein encoded by the PEG10 gene in humans. It is derived from a retrotransposon and contains two overlapping reading frames that encode distinct isoforms. The shorter isoform has a CCHC-type zinc finger motif characteristic of gag proteins and interacts with members of the TGF-beta receptor family. The longer isoform has the active-site DSG consensus sequence of the protease domain of pol proteins and is generated by -1 translational frameshifting. Both isoforms are paternally expressed due to imprinting. Increased expression of PEG10 is associated with hepatocellular carcinomas. PEG10 is highly conserved across mammalian species and retains the heptanucleotide (GGGAAAC). It is expressed in adult and embryonic tissues, with most notable expression occurring in the placenta.

PEG10 is a retrotransposon-derived protein that binds to its own mRNA and self-assembles into virion-like capsids. These capsids form virion-like extracellular vesicles that encapsulate PEG10 mRNA and are released from cells, enabling intercellular transfer of the mRNA. PEG10 binds its own mRNA in the 5'-UTR region, near the boundary between the nucleocapsid (NC) and protease (PRO) coding sequences, and at the beginning of the 3'-UTR region. It is involved in placenta formation, being required for trophoblast stem cell differentiation. It also plays a role in adipocyte differentiation, particularly in the early stages. PEG10 is overexpressed in many cancers and promotes tumor progression by driving cell cycle progression from G0/G1 and inhibiting the TGF-beta signaling pathway, possibly via interaction with the TGF-beta receptor ACVRL1. PEG10 may bind to the 5'-GCCTGTCTTT-3' DNA sequence of the MB1 domain in the myelin basic protein (MBP) promoter, but further evidence is needed to confirm this. PEG10 forms homooligomers and interacts with ACVRL1, SIAH1, and SIAH2.

PEG10 is also known as EDR, HB-1, MEF3L, Mar2, Mart2, RGAG3, RTL2, SIRH1.

Associated Diseases

WES Whole Exome Sequencing