Last update 01 Nov 2024

BRPF1

Last update 01 Nov 2024

Basic Info

Synonyms

BR140, bromodomain and PHD finger containing 1, bromodomain and PHD finger containing, 1

+ [5]

Introduction

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).

Drugs associated with BRPF1

GSK6853

Target

BRPF1

Mechanism

BRPF1 inhibitors

Active Org.

GSK Plc

Originator Org.

GSK Plc

Active Indication-

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

NI-57

Target

BRPF1 x BRPF2

Mechanism

BRPF1 inhibitors [+1]

Active Org.

University College London

Originator Org.

University College London

Active Indication

Inflammation

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

NUE-20798

Target

BRPF1

Mechanism

BRPF1 inhibitors

Active Org.-

Originator Org.

Nuevolution AB

Active Indication-

Inactive Indication

Dermatitis, Atopic

Drug Highest PhasePending

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

100 Clinical Results associated with BRPF1

100 Translational Medicine associated with BRPF1

0 Patents (Medical) associated with BRPF1

Literatures (Medical) associated with BRPF1

03 Jul 2024·Ophthalmic Genetics

Broadening the ocular phenotypic spectrum of ultra-rare BRPF1 variants: report of two cases

Article

Author: Artuso, Rosangela ; Caputo, Roberto ; Marziali, Elisa ; Fiorentini, Erika ; Fortunato, Pina ; Landini, Samuela ; Bargiacchi, Sara ; Bacci, Giacomo Maria ; Dirupo, Elia ; Zaroili, Laila ; Rocca, Camilla ; Tiberi, Lucia

INTRODUCTIONBRPF1 gene on 3p26-p25 encodes a protein involved in epigenetic regulation, through interaction with histone H3 lysine acetyltransferases KAT6A and KAT6B of the MYST family. Heterozygous pathogenic variants in BRPF1 gene are associated with Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP), characterized by global developmental delay, intellectual disability, language delay, and dysmorphic facial features. The reported ocular involvement includes strabismus, amblyopia, and refraction errors. This report describes a novel ocular finding in patients affected by variants in the BRPF1 gene.METHODSWe performed exome sequencing and deep ocular phenotyping in two unrelated patients (P1, P2) with mild intellectual disability, ptosis, and typical facies.RESULTSInterestingly, P1 had a Chiari Malformation type I and a subclinical optic neuropathy, which could not be explained by variations in other genes. Having detected a peculiar ocular phenotype in P1, we suggested optical coherence tomography (OCT) for P2; such an exam also detected bilateral subclinical optic neuropathy in this case.DISCUSSIONTo date, only a few patients with BRPF1 variants have been described, and none were reported to have optic neuropathy. Since subclinical optic nerve alterations can go easily undetected, our experience highlights the importance of a more detailed ophthalmologic evaluation in patients with BRPF1 variant.

01 May 2024·Neural regeneration research

Forebrain excitatory neuron-specific loss of Brpf1 attenuates excitatory synaptic transmission and impairs spatial and fear memory.

Article

Author: Liu, Ying ; You, Linya ; Zhang, Hang ; Liu, Shuai ; Hu, Jiayi ; Zu, Gaoyu ; Zhao, Baicheng ; Zhang, Yuxiao

Bromodomain and plant homeodomain (PHD) finger containing protein 1 (Brpf1) is an activator and scaffold protein of a multiunit complex that includes other components involving lysine acetyltransferase (KAT) 6A/6B/7. Brpf1, KAT6A, and KAT6B mutations were identified as the causal genes of neurodevelopmental disorders leading to intellectual disability. Our previous work revealed strong and specific expression of Brpf1 in both the postnatal and adult forebrain, especially the hippocampus, which has essential roles in learning and memory. Here, we hypothesized that Brpf1 plays critical roles in the function of forebrain excitatory neurons, and that its deficiency leads to learning and memory deficits. To test this, we knocked out Brpf1 in forebrain excitatory neurons using CaMKIIa-Cre. We found that Brpf1 deficiency reduced the frequency of miniature excitatory postsynaptic currents and downregulated the expression of genes Pcdhgb1, Slc16a7, Robo3, and Rho, which are related to neural development, synapse function, and memory, thereby damaging spatial and fear memory in mice. These findings help explain the mechanisms of intellectual impairment in patients with BRPF1 mutation.

01 Apr 2024·European Journal of Medical Genetics

Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder

Article

Author: Morison, Lottie D ; Van Reyk, Olivia ; Amor, David J ; Ruaud, Lyse ; Couque, Nathalie ; Baker, Emma ; Morgan, Angela T ; Verloes, Alain

Pathogenic variants in BRPF1 cause intellectual disability, ptosis and facial dysmorphism. Speech and language deficits have been identified as a manifestation of BRPF1-related disorder but have not been systematically characterized. We provide a comprehensive delineation of speech and language abilities in BRPF1-related disorder and expand the phenotype. Speech and language, and health and medical history were assessed in 15 participants (male = 10, median age = 7 years 4 months) with 14 BRPF1 variants. Language disorders were common (11/12), and most had mild to moderate deficits across receptive, expressive, written, and social-pragmatic domains. Speech disorders were frequent (7/9), including phonological delay (6/9) and disorder (3/9), and childhood apraxia of speech (3/9). All those tested for cognitive abilities had a FSIQ ≥70 (4/4). Participants had vision impairment (13/15), fine (8/15) and gross motor delay (10/15) which often resolved in later childhood, infant feeding impairment (8/15), and infant hypotonia (9/15). We have implicated BRPF1-related disorder as causative for speech and language disorder, including childhood apraxia of speech. Adaptive behavior and cognition were strengths when compared to other monogenic neurodevelopmental chromatin-related disorders. The universal involvement of speech and language impairment is noteable, relative to the high degree of phenotypic variability in BRPF1-related disorder.

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BRPF1

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