BRPF1

Chr 3p25.3

bromodomain and PHD finger containing 1

Aliases:: BR140
MANE:: ENST00000383829.7

OMIM: 602410 ↗NCBI: 7862 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

BRPF1 · P55201

v62025-08-01

Predicted Aligned Error matrix for BRPF1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

67.5/ 100

Low

1,214 residues

Confidence breakdown

Very high(≥ 90)27%
Confident(70–90)29%
Low(50–70)9%
Very low(< 50)34%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Structural eye disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

intellectual developmental disorder with dysmorphic facies and ptosis
0.77
hereditary disease
0.55
neurodegenerative disease
0.51
Intellectual disability
0.44
neurodevelopmental disorder
0.42
syndromic complex neurodevelopmental disorder
0.37
Global developmental delay
0.34
sudden unexplained death in childhood
0.34
lysosomal storage disease
0.28
developmental disability
0.12

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

Protein function (UniProt)

Peregrin

Scaffold subunit of various histone acetyltransferase (HAT) complexes, such as the MOZ/MORF and HBO1 complexes, which have a histone H3 acetyltransferase activity (PubMed:16387653, PubMed:24065767, PubMed:27939640). Plays a key role in HBO1 complex by directing KAT7/HBO1 specificity towards histone H3 'Lys-14' acetylation (H3K14ac) (PubMed:24065767). Some HAT complexes preferentially mediate histone H3 'Lys-23' (H3K23ac) acetylation (PubMed:27939640). Positively regulates the transcription of RUNX1 and RUNX2 (PubMed:18794358)