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, RNA Polymerase I) is a Protein Coding gene. Diseases associated with UBTF include Neurodegeneration, Childhood-Onset, With Brain Atrophy and Warsaw Breakage Syndrome. Among its related pathways are Ectoderm Differentiation and RNA Polymerase I Promoter Escape. GO annotations related to this gene include poly(A) RNA binding and binding. An important paralog of this gene is UBTFL1.
UniProtKB/Swiss-Prot 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.