PEDS1-UBE2V1 Gene: Function, Expression, and Disease Associations | Biomedical SEO

PEDS1-UBE2V1 is a readthrough transcript that arises from the natural fusion of two adjacent genes on chromosome 20q13.32: PEDS1 (also known as C20orf27) and UBE2V1 (ubiquitin-conjugating enzyme E2 variant 1). This readthrough produces a chimeric mRNA that is predicted to undergo nonsense-mediated decay (NMD), as indicated by the 'NMD candidate' status in Ensembl. The transcript is listed in NCBI Gene as a non-coding RNA due to NMD, but it may have regulatory roles. The individual genes have distinct functions: UBE2V1 encodes a ubiquitin-conjugating enzyme variant involved in DNA repair and NF-kB signaling, while PEDS1 is less characterized but may be involved in lipid metabolism. The readthrough transcript is a natural occurrence and is not a disease-causing fusion, but it may influence the expression of the parental genes.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• No pathways directly associated with the readthrough; UBE2V1 is involved in error-free postreplication repair and NF-kB signaling.

The PEDS1-UBE2V1 readthrough transcript is predicted to produce a chimeric protein, but due to the presence of a premature stop codon, it is targeted for nonsense-mediated decay (NMD). Therefore, no stable protein product is expected. The transcript may function as a regulatory RNA, potentially modulating the expression of the parental genes. The individual UBE2V1 protein is a ubiquitin-conjugating enzyme variant that forms a heterodimer with UBE2N (Ubc13) to catalyze K63-linked polyubiquitination, essential for DNA damage tolerance and NF-kB activation. PEDS1 (C20orf27) is a poorly characterized protein, possibly involved in lipid metabolism. The readthrough transcript is a natural occurrence and is not associated with disease.