UBTF
Function
Recognizes the ribosomal RNA gene promoter and activates transcription mediated by RNA polymerase I (Pol I) through cooperative interactions with the transcription factor SL1/TIF-IB complex. It binds specifically to the upstream control element and can activate Pol I promoter escape.
Involvement in disease
Neurodegeneration, childhood-onset, with brain atrophy
CONDBA
An autosomal dominant neurodegenerative disease with onset in childhood, characterized by progressive cortical atrophy, developmental delay, developmental regression, loss of motor skills and ambulation, absence of language, and intellectual disability.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated and activated by PIK3CA.
Cellular localization
- Nucleus
- Nucleolus
Alternative names
UBF, UBF1, UBTF, Nucleolar transcription factor 1, Autoantigen NOR-90, Upstream-binding factor 1, UBF-1