Aliases for UBTF Gene
External Ids for UBTF Gene
Previous GeneCards Identifiers for UBTF Gene
This gene encodes a member of the HMG-box DNA-binding protein family. The encoded protein plays a critical role in ribosomal RNA transcription as a key component of the pre-initiation complex, mediating the recruitment of RNA polymerase I to rDNA promoter regions. The encoded protein may also play important roles in chromatin remodeling and pre-rRNA processing, and its activity is regulated by both phosphorylation and acetylation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the short arm of chromosomes 3, 11 and X and the long arm of chromosome 11. [provided by RefSeq, Aug 2011]
GeneCards Summary for UBTF Gene
UBTF (Upstream Binding Transcription Factor) is a Protein Coding gene. Diseases associated with UBTF include Neurodegeneration, Childhood-Onset, With Brain Atrophy and Rare Syndromic Intellectual Disability. Among its related pathways are Validated targets of C-MYC transcriptional activation and MAPK Signaling: Mitogen Stimulation Pathway. Gene Ontology (GO) annotations related to this gene include binding. An important paralog of this gene is UBTFL1.
UniProtKB/Swiss-Prot Summary for UBTF Gene
Recognizes the ribosomal RNA gene promoter and activates transcription mediated by RNA polymerase I through cooperative interactions with the transcription factor SL1/TIF-IB complex. It binds specifically to the upstream control element.