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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for PUF60 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID22827
Official gene symbolPUF60
Full namepoly-U binding splicing factor 60KDa
Aliases,FIR,FLJ31379,RoBPI,SIAHBP1,
Gene summaryThe 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. [provided by RefSeq]
LocationChromosome: 8   Locus: 8q24.2-qter
Gene position144911537 - 144898547  Map Viewer
Gene orientationminus
Gene size12991 bp
Gene sequence
OMIM ID604819