PAX6 upstream antisense RNA (PAUPAR)

PAX6 upstream antisense RNA (PAUPAR) is a vertebrate-conserved, long non-coding RNA (lncRNA) transcribed from a locus upstream of the PAX6 gene, within a syntenically conserved region that exists in both humans and mice[1][2][3][4]. Unlike protein-coding genes, PAUPAR does not encode a protein and lacks conserved open reading frames[2]. PAUPAR is a chromatin-associated nuclear transcript and acts locally (cis) and distally (trans) to regulate gene expression—most notably, it modulates the transcription and alternative splicing of PAX6, a critical developmental transcription factor[1][2][7]. PAUPAR binds near gene promoters and regulatory elements, and physically interacts with the PAX6 protein to control large-scale transcriptional programs in the central nervous system and in pancreatic α cells[1][2]. In the pancreas, PAUPAR is enriched in glucagon-producing α cells, where it is required for specific alternative splicing of Pax6 necessary for α cell identity and function; its deletion leads to α cell dysfunction and misregulation of key target genes[2]. Reduced PAUPAR expression has been linked to islet dysfunction and type 2 diabetes, and it also acts as a tumor-suppressive regulator in cancers such as uveal melanoma[4]. At present, there are no approved drugs specifically targeting PAUPAR, and it is not currently established as a direct therapeutic target, but it is a focus of active research into cell identity regulation and disease.

Other names

DKFZp686K1684PAX6-AS1PAUPAR