UBTF Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | UBTF |
| Official Name | upstream binding transcription factor [Source:HGNC Symbol;Acc:HGNC:12511] |
| Ensembl ID | ENSG00000108312 |
| Bio databases IDs | |
| Aliases | upstream binding transcription factor |
| Synonyms | A930005G04RIK, CONDBA, LOC679205, NOR-90, TCFUBF, UBF, UBF-1, upstream binding transcription factor, upstream binding transcription factor, RNA polymerase I |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human UBTF often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- dimerization domain
- double-stranded DNA binding
- nucleic acid binding
- high mobility group (HMG)-box domain superfamily
- HMG (high mobility group) box
- HMG-box domain
- high mobility group
- chromatin binding
- protein binding
- sequence-specific DNA binding
- acidic domain
Pathways
Biological processes and signaling networks where the UBTF gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- precursor B-cell acute lymphoblastic leukemia
- childhood-onset neurodegeneration with brain atrophy
- diabetic nephropathy
- hereditary disorder
- UBTF E210K neuroregression syndrome
role in cell
- cell death
- expression in
- synthesis in
- transformation
- binding in
- colony formation
- growth
- processing in
- disruption
- recruitment in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- nucleolar fraction
- pseudo nucleolar organizer
- fibrillar center
- nuclear foci
- nucleoplasm
- nucleoli
- sperm head
- nucleolar organizers
- chromatin
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human UBTF gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- RNA polymerase I transcriptional preinitiation complex assembly
- transcription initiation from RNA polymerase I promoter
- transcription from RNA polymerase I promoter
- positive regulation of transcription from RNA polymerase I promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- nucleolus
- fibrillar center
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- scaffold protein binding
- RNA polymerase I upstream control element sequence-specific DNA binding
- protein binding
- RNA polymerase I CORE element sequence-specific DNA binding
- RNA binding
- core RNA polymerase I binding transcription factor activity
- chromatin binding