Retrotransposon gag like 1 (RTL1)

Retrotransposon gag like 1 (RTL1), also known as PEG11, is a paternally expressed imprinted gene encoded within the Dlk1-Dio3 domain on human chromosome 14 (orthologous to mouse chromosome 12). The gene is derived from a retrotransposon and encodes a predicted transmembrane protein with aspartic protease activity and substantial homology to the gag protein of retroviruses. RTL1 is functionally important in the maintenance and stability of fetal/neonatal muscle fibers, placental development, and mammalian brain structures such as the corticospinal tract and hippocampal commissure. It is subject to tight regulation via antisense microRNAs transcribed from the maternal allele, which target the paternal mRNA for degradation, forming a well-studied model of gene imprinting and RNA-based regulatory mechanisms. Overexpression of RTL1 (often associated with loss of imprinting or epigenetic dysregulation) acts as a potent oncogene in hepatocellular carcinoma (HCC)—with evidence for its role as a driver in tumorigenesis shown in both mouse models and a significant proportion of human HCC samples. No drugs directly targeting RTL1 are currently described; however, its disease associations, imprinting status, and regulatory network make it a compelling target for future biomarker and therapeutic development[2][3][4].

Other names

Retrotransposon-like protein 1PEG11MAR1MART1SIRH2HUR1Mammalian retrotransposon-derived protein 1Paternally expressed gene 11 proteinRetrotransposon-derived protein PEG11Sushi-Ichi retrotransposon homolog 2

Not directly drug-targeted as of current knowledge. Known roles involve: - Proteolytic cleavage of extracellular matrix components, potentially affecting cell proliferation and tumorigenesis[2] - Post-transcriptional regulation by antisense microRNAs[3]