BRPF1 - bromodomain and PHD finger containing 1 Gene

Homo sapiens

Also known as BR140; IDDDFP

Gene ID: 7862 | Gene type: protein coding

About BRPF1

Cytogenetic location: 3p25.3 Genomic coordinates (GRCh38): 3:9,731,735-9,748,015 (from NCBI)

This gene has 23 transcripts (splice variants), 211 orthologues, 8 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 10.0), bone marrow (RPKM 8.9) and 25 other tissues.

Summary

This gene encodes a bromodomain, PHD finger and chromo/Tudor-related Pro-Trp-Trp-Pro (PWWP) domain containing protein. The encoded protein is a component of the MOZ/MORF Histone Acetyltransferase complexes which function as a transcriptional regulators. This protein binds to the catalytic MYST domains of the MOZ and MORF proteins and may play a role in stimulating acetyltransferase and transcriptional activity of the complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

BRPF1 Products(17)

mRNA	Protein	Name
XM_005265449.2	XP_005265506.1	peregrin isoform X2
XM_047448881.1	XP_047304837.1	peregrin isoform X8
XM_047448879.1	XP_047304835.1	peregrin isoform X7
NM_001319050.2	NP_001305979.1	peregrin isoform 4
XM_047448876.1	XP_047304832.1	peregrin isoform X3
NM_001410704.1	NP_001397633.1	peregrin isoform 5
XM_011534101.2	XP_011532403.1	peregrin isoform X1
XM_047448882.1	XP_047304838.1	peregrin isoform X8
XM_047448877.1	XP_047304833.1	peregrin isoform X5
NM_004634.3	NP_004625.2	peregrin isoform 2
XM_047448875.1	XP_047304831.1	peregrin isoform X1
NM_001319049.2	NP_001305978.1	peregrin isoform 3
XM_005265450.2	XP_005265507.1	peregrin isoform X4
XM_047448880.1	XP_047304836.1	peregrin isoform X7
NR_160918.1
XM_047448878.1	XP_047304834.1	peregrin isoform X6
NM_001003694.2	NP_001003694.1	peregrin isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables acetyltransferase activator activity	IDA IDA: Inferred from direct assay	27939640	GOA
contributes to histone H4K12 acetyltransferase activity	IDA IDA: Inferred from direct assay	16387653	GOA
contributes to histone H4K5 acetyltransferase activity	IDA IDA: Inferred from direct assay	16387653	GOA
contributes to histone H4K8 acetyltransferase activity	IDA IDA: Inferred from direct assay	16387653	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25281266	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in chromatin remodeling	IMP IMP: Inferred from mutant phenotype	27939640	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	18794358	GOA
involved in regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	18794358	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of MOZ/MORF histone acetyltransferase complex	IDA IDA: Inferred from direct assay	16387653	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	27939640	GOA
part of histone acetyltransferase complex	IDA IDA: Inferred from direct assay	24065767	GOA
located in nucleus	IDA IDA: Inferred from direct assay	18794358	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BRPF1 Protein Structure

EPL1

PHD_2

zf-HC5HC2H_2

Bromodomain

PWWP

0
200
400
600
800
1000
1214 a.a.

Protein Preferred Names

Protein Names

peregrin

bromodomain-containing protein, 140kD

BRPF1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	BRPF1	P55201	H2AC11	Homo sapiens	P0C0S8	ITC	25281266
Intra	BRPF1	P55201	H2AC11	Homo sapiens	P0C0S8	X-Ray Diffraction	25281266
Intra	BRPF1	P55201	H4C16	Homo sapiens	P62805	X-Ray Diffraction	25281266
Intra	BRPF1	P55201	H4C16	Homo sapiens	P62805	ITC	25281266

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Eyelid Disease

Eyelid Diseases

Eyelid Disorders

Cerebellar Angioblastoma

Hemangioblastoma Of Cerebellum

Cerebellar Hemangioblastoma

Congenital Ptosis

Congenital Blepharoptosis

Congenital Eyelid Ptosis

Syndromic Intellectual Disability

Ptosis

Blepharoptosis	Drooping Eyelid
Droopy Eyelid	Ptosis Of Eyelid
Paralysis Of Levator Palpebrae Superioris

Monocular Esotropia

Esotropia

Ohdo Syndrome, Sbbys Variant

Say-Barber-Biesecker-Young-Simpson Syndrome	SBBYSS
Young-Simpson Syndrome	Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Yss	Sbbys Variant Of Ohdo Syndrome
Blepharophimosis - Intellectual Disability Syndrome, Sbbys Type	Young Simpson Syndrome
Sbbyss Syndrome	Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant
Blepharophimosis And Mental Retardation Syndrome, Say-Barber/Biesecker/Young-Simpson Type	Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber/Biesecker/Young-Simpson Type
Bmrs Sbbys	Ohdo Syndrome, Say-Barber-Biesecker Variant
Say-Barber-Biesecker-Young-Simpson Variant Of Ohdo Syndrome	Hypothyroidism-Dysmorphism-Postaxial Polydactyly-Intellectual Disability Syndrome
Say-Barber-Biesecker Variant Of Ohdo Syndrome

Intellectual Developmental Disorder, Autosomal Dominant 23

MRD23	Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Mental Retardation, Autosomal Dominant 23	Autosomal Dominant Non-Syndromic Intellectual Disability 23
Autosomal Dominant Intellectual Developmental Disorder 23	Autosomal Dominant Mental Retardation 23
Mental Retardation, Autosomal Dominant, Type 23

Ophthalmomyiasis

Ocular Myiasis	Ophthalmic Myiasis
Myiasis Oestruosa

Adult Medulloblastoma

Adult Brain Medulloblastoma

Medulloblastoma, Adult

Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis

IDDDFP

Ohdo Syndrome

Young Simpson Syndrome	Ohdo Blepharophimosis Syndrome
Blepharophimosis Syndrome Ohdo Type	Blepharophimosis Intellectual Disability Syndromes
Bmrs	Blepharophimosis-Intellectual Disability Syndrome
Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, And Hypoplastic Teeth	Blepharophimosis Mental Retardation Syndromes
Sbbys Syndrome	Say Barber Biesecker Young-Simpson Syndrome
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Bmrs, Ohdo Type
Blepharophimosis Syndrome, Ohdo Type	Ohdo-Madokoro-Sonoda Syndrome
Blepharophimosis - Intellectual Disability Syndrome, Ohdo Type	Blepharophimosis - Intellectual Disability Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (9)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-107424	BAY-299	Inhibitor	99.11%	Unkown
HY-100729	GSK9311	Inhibitor	99.52%	Unkown
HY-130622	LT052	Inhibitor	98.77%	Unkown
HY-101121	NI-42	Inhibitor	99.53%	Unkown
HY-100729A	GSK9311 hydrochloride	Inhibitor	/	Unkown
HY-149806	Bromodomain IN-2	Inhibitor	/	Unkown
HY-151366	HDAC8/BRPF1-IN-1	Inhibitor	/	Unkown
HY-143332	TRIM24/BRPF1-IN-2	Inhibitor	/	Unkown
HY-122626	BRPF1B/TRIM24-IN-1	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	BRPF1	VGNC	VGNC:38533
Rattus norvegicus	BRPF1	RGD	RGD:1584828
Felis catus	BRPF1	VGNC	VGNC:60181
Mus musculus	BRPF1	MGD	MGI:1926033
Macaca mulatta	BRPF1	VGNC	VGNC:70308
Bos taurus	BRPF1	VGNC	VGNC:26572
Others	BRPF1	NCBI

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