UBF1 est un gène codé par le symbole UBTF. Il est également connu sous le nom de: Nucleolar transcription factor 1; Autoantigen NOR-90; Upstream-binding factor 1; UBF-1; UBTF; UBF. UBF1 a une masse de 89.41kDa, une longueur d'acide aminé de 764, et est impliqué dans Neurodegeneration, childhood-onset, with brain atrophy.
Nous proposons 8 des anticorps contre UBF1, élevé dans Lapin, qui sont appropriés pour le WB, IHC et ELISA avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé 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.
Résumé Entrez
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.
Implication dans la maladie
Neurodegeneration, childhood-onset, with brain atrophy: 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.
Modification post-traductionnelle
Phosphorylated and activated by PIK3CA.
Localisation cellulaire
Nucleus > Nucleolus.
