HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
BRPF1
bromodomain and PHD finger containing 1
Chromosome 3 Β· 3p25.3
NCBI Gene: 7862Ensembl: ENSG00000156983.17HGNC: HGNC:14255UniProt: A0A804HI52
63PubMed Papers
21Diseases
0Drugs
93Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
histone H4K5 acetyltransferase activityhistone H4K8 acetyltransferase activityhistone H4K12 acetyltransferase activityprotein bindingintellectual developmental disorder with dysmorphic facies and ptosisgenetic disorderneurodegenerative diseaseIntellectual disability
✦AI Summary

BRPF1 (bromodomain and PHD finger containing 1) is a scaffold subunit of histone acetyltransferase (HAT) complexes, including MOZ/MORF and HBO1 complexes, that catalyze histone H3 acetylation 1. As a core component of these multi-subunit complexes, BRPF1 directs KAT7/HBO1 specificity toward histone H3 lysine-14 acetylation (H3K14ac) and facilitates H3K23 acetylation 2. BRPF1 contains multiple histone-binding domains (bromodomain, PHD fingers, and PWWP modules) that enable recognition of specific histone modifications and coordinate epigenetic crosstalk 3. In human embryonic stem cells, BRPF1 bridges H3K4me3 and H3K23ac modifications at stemness genes and is essential for maintaining pluripotency 3. Beyond histone modifications, BRPF1 positively regulates transcription of developmental genes including RUNX1 and RUNX2 2. Pathogenic BRPF1 variants cause autosomal dominant Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP), characterized by developmental delay, intellectual disability, and distinctive facial features including ptosis and blepharophimosis 4. Disease-associated variants impair H3K23 propionylation and active chr3 maintenance 5. Additionally, BRPF1-KAT6A/KAT6B complexes are implicated in cancer development, with somatic mutations found in leukemia and medulloblastoma 1, and BRPF1 serves as a therapeutic target in NUP98-rearranged acute myeloid leukemia 6.

Sources cited
1
BRPF1 is a scaffold subunit of MOZ/MORF and HBO1 HAT complexes; germline mutations cause neurodevelopmental disorders with intellectual disability; somatic variants associated with leukemia and medulloblastoma
PMID: 36077605
2
BRPF1 directs MOZ/KAT6A specificity and regulates H3K23ac; mutations linked to developmental disorders and cancer; reader domains affect chromatin localization and acetyltransferase specificity
PMID: 36712963
3
BRPF1 bridges H3K4me3 and H3K23ac at stemness genes; essential for pluripotency in human embryonic stem cells; multi-histone binding modules required for function
PMID: 36711238
4
BRPF1-KAT6 complexes catalyze H3K23 propionylation; BRPF1 variants in intellectual disability cases impair H3K23 propionylation; cancer-derived somatic BRPF1 mutations also impair this modification
PMID: 32010779
5
BRPF1 variants cause IDDDFP with developmental delay, intellectual disability, and dysmorphic facial features including ptosis and blepharophimosis; clinical spectrum includes neuropsychological variability and structural brain abnormalities
PMID: 39837771
6
BRPF1 is a common subunit of KAT6A/KAT7 complexes; these HATs are molecular dependencies in NUP98-rearranged acute myeloid leukemia and serve as therapeutic targets
PMID: 40536430
Disease Associationsβ“˜21
intellectual developmental disorder with dysmorphic facies and ptosisOpen Targets
0.78Strong
genetic disorderOpen Targets
0.55Moderate
neurodegenerative diseaseOpen Targets
0.51Moderate
Intellectual disabilityOpen Targets
0.44Moderate
Neurodevelopmental disorderOpen Targets
0.42Moderate
syndromic complex neurodevelopmental disorderOpen Targets
0.37Weak
Global developmental delayOpen Targets
0.34Weak
sudden unexplained death in childhoodOpen Targets
0.34Weak
lysosomal storage diseaseOpen Targets
0.28Weak
developmental disorder of mental healthOpen Targets
0.12Weak
ulcerative colitisOpen Targets
0.12Weak
Neurodevelopmental delayOpen Targets
0.11Weak
Autistic behaviorOpen Targets
0.11Weak
breast cancerOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
prostate adenocarcinomaOpen Targets
0.07Suggestive
gliomaOpen Targets
0.07Suggestive
osteopathia striata with cranial sclerosisOpen Targets
0.07Suggestive
cancerOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.04Suggestive
Intellectual developmental disorder with dysmorphic facies and ptosisUniProt
Pathogenic Variants93
NM_001003694.2(BRPF1):c.1182_1183del (p.Ala396fs)Pathogenic
Intellectual developmental disorder with dysmorphic facies and ptosis|Global developmental delay|not provided|Sudden unexplained death in childhood|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 396
NM_001003694.2(BRPF1):c.1363C>T (p.Arg455Ter)Pathogenic
Intellectual developmental disorder with dysmorphic facies and ptosis|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 455
NM_001003694.2(BRPF1):c.3298C>T (p.Arg1100Ter)Pathogenic
Intellectual developmental disorder with dysmorphic facies and ptosis|not provided|See cases
β˜…β˜…β˜†β˜†2025β†’ Residue 1100
NM_001003694.2(BRPF1):c.2459_2460del (p.Lys820fs)Pathogenic
not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 820
NM_001003694.2(BRPF1):c.2798del (p.Pro933fs)Pathogenic
Intellectual developmental disorder with dysmorphic facies and ptosis|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 933
NM_001003694.2(BRPF1):c.704_705del (p.Glu235fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 235
NM_001003694.2(BRPF1):c.751C>T (p.Arg251Ter)Pathogenic
not provided|Inborn genetic diseases|Intellectual developmental disorder with dysmorphic facies and ptosis|BRPF1-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 251
NM_001003694.2(BRPF1):c.1433G>A (p.Trp478Ter)Pathogenic
Intellectual developmental disorder with dysmorphic facies and ptosis
β˜…β˜…β˜†β˜†2024β†’ Residue 478
NM_001003694.2(BRPF1):c.2420_2433del (p.Gln807fs)Pathogenic
not provided|Intellectual developmental disorder with dysmorphic facies and ptosis
β˜…β˜…β˜†β˜†2024β†’ Residue 807
NM_001003694.2(BRPF1):c.3456CTT[1] (p.Phe1154del)Likely pathogenic
not provided|Intellectual developmental disorder with dysmorphic facies and ptosis|Inborn genetic diseases
β˜…β˜…β˜†β˜†2024β†’ Residue 1154
NM_001003694.2(BRPF1):c.883_884del (p.Met295fs)Pathogenic
not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2022β†’ Residue 295
NM_001003694.2(BRPF1):c.1044G>A (p.Trp348Ter)Pathogenic
Intellectual developmental disorder with dysmorphic facies and ptosis
β˜…β˜†β˜†β˜†2025β†’ Residue 348
NM_001003694.2(BRPF1):c.2436_2437insAA (p.Arg813fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 813
NM_001003694.2(BRPF1):c.1199G>A (p.Cys400Tyr)Likely pathogenic
Intellectual developmental disorder with dysmorphic facies and ptosis
β˜…β˜†β˜†β˜†2025β†’ Residue 400
NM_001003694.2(BRPF1):c.2781dup (p.Ser928fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 928
NM_001003694.2(BRPF1):c.3021dup (p.Glu1008Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 1008
NM_001003694.2(BRPF1):c.2056C>T (p.Gln686Ter)Pathogenic
Intellectual developmental disorder with dysmorphic facies and ptosis
β˜…β˜†β˜†β˜†2025β†’ Residue 686
NM_001003694.2(BRPF1):c.2594_2597del (p.Asp865fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 865
NM_001003694.2(BRPF1):c.1547dup (p.Pro518fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 518
NM_001003694.2(BRPF1):c.3589G>A (p.Ala1197Thr)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 1197
View on ClinVar β†—
Related Genes
H3-4Protein interaction100%H3C13Protein interaction100%H3C12Protein interaction100%H3C1Protein interaction100%H3C3Protein interaction99%H3C2Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
39%
Ovary
38%
Heart
25%
Liver
22%
Brain
20%
Gene Interaction Network
Click a node to explore
BRPF1H3-4H3C13H3C12H3C1H3C3H3C2
PROTEIN STRUCTURE
Preparing viewer…
PDB5MWZ Β· 1.25 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.20Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.13 [0.09–0.20]
RankingsWhere BRPF1 stands among ~20K protein-coding genes
  • #7,341of 20,598
    Most Researched63
  • #828of 5,498
    Most Pathogenic Variants93 Β· top quartile
  • #485of 17,882
    Most Constrained (LOEUF)0.20 Β· top 5%
Genes detectedBRPF1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
BRPF1-KAT6A/KAT6B Complex: Molecular Structure, Biological Function and Human Disease.
PMID: 36077605
Cancers (Basel) Β· 2022
1.00
2
The MOZ-BRPF1 acetyltransferase complex in epigenetic crosstalk linked to gene regulation, development, and human diseases.
PMID: 36712963
Front Cell Dev Biol Β· 2022
0.90
3
Structure of the human TIP60 complex.
PMID: 39154037
Nat Commun Β· 2024
0.80
4
Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer.
PMID: 32010779
Sci Adv Β· 2020
0.70
5
The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.
PMID: 39837771
Clin Genet Β· 2025
0.60