AlphaFold predicted structure
UBTF · P17480
Mean pLDDT
77.3/ 100
Confident
764 residues
Confidence breakdown
- Very high(≥ 90)42%
- Confident(70–90)33%
- Low(50–70)5%
- Very low(< 50)21%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
UBTF
Chr 17q21.31upstream binding transcription factor
- Aliases:
- UBF, NOR-90, UBF1, UBF2
- MANE:
- ENST00000436088.6
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedChildhood onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
0.72hereditary disease
0.41rare syndromic intellectual disability
0.34neurodegenerative disease
0.29diverticular disease
0.15Abnormality of the skeletal system
0.15upper respiratory tract disorder
0.14neurodevelopmental disorder
0.12hemolysis
0.10acute myeloid leukemia
0.09
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Nucleolar transcription factor 1
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