PUF60

PUF60

Identifiers Symbols PUF60; FIR; RoBPI; SIAHBP1 External IDs OMIM: 604819 MGI: 1915209 HomoloGene: 8614 GeneCards: PUF60 Gene

Gene Ontology
Molecular function nucleotide binding
DNA binding
RNA binding
protein binding
Cellular component nucleus
nucleolus
cyclin-dependent protein kinase activating kinase holoenzyme complex
ribonucleoprotein complex
Biological process transcription, DNA-dependent
regulation of transcription, DNA-dependent
mRNA processing
apoptotic process
RNA splicing
Sources: Amigo / QuickGO
RNA expression pattern More reference expression data Orthologs Species Human Mouse Entrez 22827 67959 Ensembl ENSG00000179950 ENSMUSG00000002524 UniProt Q9UHX1 Q3UEB3 RefSeq (mRNA) NM_001136033 NM_001164600 RefSeq (protein) NP_001129505 NP_001158072 Location (UCSC) Chr 8:
144.9 – 144.91 Mb Chr 15:
76.07 – 76.08 Mb PubMed search

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.

Read more about PUF60:  Interactions