BRF1

Chr 14q32.33

BRF1 general transcription factor IIIB subunit

Aliases:: TFIIIB90, BRF, hBRF
MANE:: ENST00000547530.7

OMIM: 604902 ↗NCBI: 2972 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

BRF1 · Q92994

v62025-08-01

Predicted Aligned Error matrix for BRF1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

69.1/ 100

Low

677 residues

Confidence breakdown

Very high(≥ 90)29%
Confident(70–90)25%
Low(50–70)16%
Very low(< 50)30%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Cerebellar hypoplasia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Cerebellar-facial-dental syndrome
0.76
hereditary disease
0.50
neurodegenerative disease
0.49
Intellectual disability
0.41
Sensorineural hearing impairment
0.34
Postnatal growth retardation
0.34
Moderate intellectual disability
0.34
Primary microcephaly
0.34
Abnormal heart morphology
0.34
Abnormality of the inner ear
0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Transcription factor IIIB 90 kDa subunit

General activator of RNA polymerase which utilizes different TFIIIB complexes at structurally distinct promoters. The isoform 1 is involved in the transcription of tRNA, adenovirus VA1, 7SL and 5S RNA. Isoform 2 is required for transcription of the U6 promoter