RPRD1B
Description
The RPRD1B (regulation of nuclear pre-mRNA domain containing 1B) is a protein-coding gene located on chromosome 20.
RPRD1B interacts with the phosphorylated C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit POLR2A and participates in the dephosphorylation of the CTD by RPAP2. It acts as a transcriptional regulator that enhances the expression of CCND1, promoting the binding of RNA polymerase II to the CCND1 promoter and the termination region before the poly-A site, while decreasing its binding after the poly-A site. This prevents RNA polymerase II from reading through the 3' end termination site and might facilitate its recruitment back to the promoter through the promotion of chromatin loop formation. RPRD1B also enhances the transcription of several other cell cycle-related genes, including CDK2, CDK4, CDK6, and cyclin-E, but not CDKN1A, CDKN1B, or cyclin-A. It promotes cell proliferation.
RPRD1B is also known as C20orf77, CREPT, K-H, Kub5-Hera, NET60, dJ1057B20.2.
Associated Diseases
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- hemoglobin D disease
- delta-beta-thalassemia
- dominant beta-thalassemia
- hemoglobin E-beta-thalassemia syndrome
- hemoglobin C-beta-thalassemia syndrome
- alpha-thalassemia-myelodysplastic syndrome
- hemoglobin E disease
- hemoglobin H disease
- acute kidney failure
- cancer
