UBTF
Description
The UBTF (upstream binding transcription factor) is a protein-coding gene located on chromosome 17.
UBTF, or Upstream Binding Factor, is a protein encoded by the UBTF gene in humans. This gene is located on chromosome 17 and encodes a 764 amino acid protein. UBTF contains six high mobility group boxes (HMG-boxes) that enable it to bind to DNA. It also has a hyperacidic carboxy-terminal domain, crucial for transcription activation, and a helix-gap-helix dimerization motif, suggesting that UBTF often functions as a dimer. Alternative splicing can produce two isoforms, UBTF1 and UBTF2, differing in size. UBTF is a transcription factor essential for the expression of ribosomal RNAs (18S, 5.8S, and 28S) alongside SL1, a complex of TBP and TAFs. This nucleolar phosphoprotein possesses both DNA binding and transactivation domains. In vertebrates, UBTF plays a critical role in maintaining rDNA chromatin in a euchromatic state, a characteristic of transcriptionally active rDNA repeats.
UBTF recognizes the ribosomal RNA gene promoter and activates transcription mediated by RNA polymerase I (Pol I). This activation occurs through cooperative interactions with the transcription factor SL1/TIF-IB complex. UBTF specifically binds to the upstream control element and can activate Pol I promoter escape.
UBTF is also known as CONDBA, NOR-90, UBF, UBF-1, UBF1, UBF2.
Associated Diseases
- Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
- Neurodegeneration, childhood-onset, with brain atrophy
