UBTF gene

upstream binding transcription factor

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder

From UniProt:

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. [MIM:617672]

Cytogenetic Location: 17q21.31, which is the long (q) arm of chromosome 17 at position 21.31

Molecular Location: base pairs 44,205,036 to 44,221,304 on chromosome 17 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 17q21.31, which is the long (q) arm of chromosome 17 at position 21.31
  • NOR-90
  • UBF
  • UBF-1
  • UBF1
  • UBF2