Recombinant Human Nucleolar transcription factor 1 (UBTF) Protein

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

Subcellular Location

Nucleus, nucleolus

Disease Association

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. [The disease is caused by variants affecting the gene represented in this entry]

Subunit

Homodimer (By similarity). Part of Pol I pre-initiation complex (PIC), in which Pol I core assembles with RRN3 and promoter-bound UTBF and SL1/TIF-IB complex (PubMed:11250903, PubMed:11283244, PubMed:36271492). Interacts with TOP2A in the context of Pol I complex (PubMed:36271492). Interacts with TBP (PubMed:7982918). Interacts with TAF1A (PubMed:7491500). Interacts with RASL11A (By similarity). Binds to IRS1 and PIK3CA (By similarity). Interacts with DHX33 (PubMed:21930779). Interacts with PHF6 (PubMed:23229552). Interacts with CEBPA (isoform 1 and isoform 4) (PubMed:20075868). Interacts with DDX11 (PubMed:26089203). Interacts with NOP53 (PubMed:27729611). Interacts with ALKBH2

• Jantzen H.M. et al. Nucleolar transcription factor hUBF contains a DNA-binding motif with homology to HMG proteins. — Nature (1990)
• Chan E.K.L. et al. Human autoantibody to RNA polymerase I transcription factor hUBF. Molecular identity of nucleolus organizer region autoantigen NOR-90 and ribosomal RNA transcription upstream binding factor. — J. Exp. Med. (1991)
• Ota T. et al. Complete sequencing and characterization of 21,243 full-length human cDNAs. — Nat. Genet. (2004)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Kwon H. et al. The RNA polymerase I transcription factor, upstream binding factor, interacts directly with the TATA box-binding protein. — J. Biol. Chem. (1994)
• Beckmann H. et al. Coactivator and promoter-selective properties of RNA polymerase I TAFs. — Science (1995)
• Miller G. et al. hRRN3 is essential in the SL1-mediated recruitment of RNA polymerase I to rRNA gene promoters. — EMBO J. (2001)
• Panov K.I. et al. A step subsequent to preinitiation complex assembly at the ribosomal RNA gene promoter is rate limiting for human RNA polymerase I-dependent transcription. — Mol. Cell. Biol. (2001)