PUF60
Description
The PUF60 (poly(U) binding splicing factor 60) is a protein-coding gene located on chromosome 8.
Poly(U)-binding-splicing factor PUF60 is a protein that in humans is encoded by the PUF60 gene. The protein encoded by this gene is a Ro RNP-binding protein. It interacts with Ro RNPs and their interaction is thought to represent a gain of function for Ro RNPs. This protein also forms a ternary complex with far upstream element (FUSE) and FUSE-binding protein. It can repress a c-myc reporter via the FUSE. It is also known to target transcription factor IIH and inhibit activated transcription. This gene is implicated in the xeroderma pigmentosum disorder. There are two alternatively spliced transcript variants of this gene encoding different isoforms. There seems to be evidence of multiple polyadenylation sites for this gene.
== Interactions == PUF60 has been shown to interact with U2AF2.
PUF60 is a DNA- and RNA-binding protein involved in various nuclear processes, including pre-mRNA splicing, apoptosis, and transcription regulation. It interacts with FUBP1 to regulate MYC transcription at the P2 promoter through the core-TFIIH basal transcription factor. It acts as a transcriptional repressor through the core-TFIIH basal transcription factor, repressing FUBP1-induced transcriptional activation but not basal transcription. PUF60 decreases ERCC3 helicase activity but does not repress TFIIH-mediated transcription in xeroderma pigmentosum complementation group B (XPB) cells. It also participates in pre-mRNA splicing, promoting splicing of introns with weak 3'-splice sites and pyrimidine tracts in a cooperative manner with U2AF2. Overexpression of PUF60 in HeLa cells induces apoptosis. Isoform 6 of PUF60 fails to repress MYC transcription and inhibits FIR-induced apoptosis in colorectal cancer, potentially contributing to tumor progression by increasing MYC expression and resistance to apoptosis in tumors compared to normal cells. PUF60 modulates alternative splicing of multiple mRNAs, binds to relaxed DNA in active promoter regions, binds to pyrimidine tracts and 3'-splice sites in pre-mRNA (binding is enhanced in the presence of U2AF2), binds to Y5 RNA in association with RO60, and binds to poly(U) RNA.
PUF60 is also known as FIR, RoBPI, SIAHBP1, VRJS.
Associated Diseases
- Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
- Verheij syndrome
- 8q24.3 microdeletion syndrome
