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 acetyltransfe... See more...

Aliases for BRPF1 Gene

Aliases for BRPF1 Gene

  • Bromodomain And PHD Finger Containing 1 2 3 5
  • Peregrin 2 3 4
  • BR140 2 3 4
  • Bromodomain-Containing Protein, 140kD 2 3
  • Bromodomain And PHD Finger-Containing Protein 1 4
  • Bromodomain And PHD Finger Containing, 1 2
  • Protein Br140 4
  • IDDDFP 3
  • BRPF1 5

External Ids for BRPF1 Gene

Previous GeneCards Identifiers for BRPF1 Gene

  • GC03P009702
  • GC03P009765
  • GC03P009748
  • GC03P009709
  • GC03P009776
  • GC03P009777
  • GC03P009778
  • GC03P009779
  • GC03P009780
  • GC03P009781
  • GC03P009783

Summaries for BRPF1 Gene

Entrez Gene Summary for BRPF1 Gene

  • 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]

GeneCards Summary for BRPF1 Gene

BRPF1 (Bromodomain And PHD Finger Containing 1) is a Protein Coding gene. Diseases associated with BRPF1 include Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis and Baker-Gordon Syndrome. Among its related pathways are Regulation of TP53 Activity through Acetylation and Chromatin organization. An important paralog of this gene is BRPF3.

UniProtKB/Swiss-Prot Summary for BRPF1 Gene

  • 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).

Tocris Summary for BRPF1 Gene

  • Bromodomains (BRDs) are epigenetic reader domains that selectively recognize acetylated lysine residues on the tails of histone proteins, and are the only known protein modules that can target acetylated lysine residues.

No data available for CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BRPF1 Gene

Genomics for BRPF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BRPF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BRPF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BRPF1

Top Transcription factor binding sites by QIAGEN in the BRPF1 gene promoter:
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for BRPF1 Gene

Genomic Locations for BRPF1 Gene
chr3:9,731,729-9,748,015
(GRCh38/hg38)
Size:
16,287 bases
Orientation:
Plus strand
chr3:9,773,413-9,789,702
(GRCh37/hg19)
Size:
16,290 bases
Orientation:
Plus strand

Genomic View for BRPF1 Gene

Genes around BRPF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BRPF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BRPF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BRPF1 Gene

Proteins for BRPF1 Gene

  • Protein details for BRPF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55201-BRPF1_HUMAN
    Recommended name:
    Peregrin
    Protein Accession:
    P55201
    Secondary Accessions:
    • B4DEZ6
    • Q7Z6E0
    • Q8TCM6
    • Q9UHI0

    Protein attributes for BRPF1 Gene

    Size:
    1214 amino acids
    Molecular mass:
    137499 Da
    Quaternary structure:
    • Component of some HBO1 complex composed of KAT7/HBO1, MEAF6, ING5, and BRPF1 (PubMed:24065767). Component of the MOZ/MORF complex composed at least of ING5, KAT6A, KAT6B, MEAF6 and one of BRPF1, BRD1/BRPF2 and BRPF3 (PubMed:16387653, PubMed:18794358, PubMed:27939640). Interacts (via PHD-type zinc finger domains) with unmethylated histone H3 at 'Lys-4' (H3K4me0) (PubMed:24065767). Interacts with trimethylated 'Lys-36' of histone H3 (H3K36me3) (PubMed:20400950, PubMed:21720545). Interacts with ING5; interaction directs BRPF1 to H4K4me3-enriched chromatin at the 5' of active genes (PubMed:24065767). Interacts with KAT7 (PubMed:27939640).

    Three dimensional structures from OCA and Proteopedia for BRPF1 Gene

    Alternative splice isoforms for BRPF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BRPF1 Gene

Post-translational modifications for BRPF1 Gene

No data available for DME Specific Peptides for BRPF1 Gene

Domains & Families for BRPF1 Gene

Gene Families for BRPF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for BRPF1 Gene

GenScript: Design optimal peptide antigens:
  • Protein Br140 (BRPF1_HUMAN)
genes like me logo Genes that share domains with BRPF1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for BRPF1 Gene

Function for BRPF1 Gene

Molecular function for BRPF1 Gene

UniProtKB/Swiss-Prot Function:
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).

Phenotypes From GWAS Catalog for BRPF1 Gene

Gene Ontology (GO) - Molecular Function for BRPF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IEA,IPI 25281266
GO:0042393 histone binding IBA 21873635
GO:0043994 contributes_to histone acetyltransferase activity (H3-K23 specific) IDA 27939640
genes like me logo Genes that share ontologies with BRPF1: view
genes like me logo Genes that share phenotypes with BRPF1: view

Human Phenotype Ontology for BRPF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BRPF1 Gene

MGI Knock Outs for BRPF1:
  • Brpf1 Brpf1<tm1a(EUCOMM)Wtsi>
  • Brpf1 Brpf1<tm1d(EUCOMM)Wtsi>
  • Brpf1 Brpf1<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BRPF1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for BRPF1 Gene

Localization for BRPF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BRPF1 Gene

Nucleus. Chromosome. Cytoplasm. Note=Localization to the nucleus depends on KAT6A, ING5 and MEAF6 (PubMed:18794358, PubMed:27939640). Localizes to transcription start sites (PubMed:24065767). {ECO:0000269 PubMed:18794358, ECO:0000269 PubMed:24065767, ECO:0000269 PubMed:27939640}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BRPF1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BRPF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000123 histone acetyltransferase complex IDA 24065767
GO:0005634 nucleus IEA,IDA 18794358
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
GO:0005737 cytoplasm IEA,IDA 27939640
genes like me logo Genes that share ontologies with BRPF1: view

Pathways & Interactions for BRPF1 Gene

genes like me logo Genes that share pathways with BRPF1: view

Gene Ontology (GO) - Biological Process for BRPF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IEA --
GO:0043966 histone H3 acetylation IDA 16387653
GO:0043972 histone H3-K23 acetylation IMP 27939640
GO:0044154 histone H3-K14 acetylation IDA 24065767
GO:0045893 positive regulation of transcription, DNA-templated IDA 18794358
genes like me logo Genes that share ontologies with BRPF1: view

No data available for SIGNOR curated interactions for BRPF1 Gene

Drugs & Compounds for BRPF1 Gene

(4) Drugs for BRPF1 Gene - From: ApexBio and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
PFI 4 Pharma Potent and selective BRPF1 Bromodomain inhibitor 0
COMPOUND 1 [DEMONT <I>ET AL</I> 2014] Pharma 0
COMPOUND 2 [DEMONT <I>ET AL</I> 2014] Pharma 0
COMPOUND 3 [DEMONT <I>ET AL</I> 2014] Pharma 0

(1) ApexBio Compounds for BRPF1 Gene

Compound Action Cas Number
PFI 4 Potent and selective BRPF1 Bromodomain inhibitor 900305-37-5
genes like me logo Genes that share compounds with BRPF1: view

Drug Products

Transcripts for BRPF1 Gene

mRNA/cDNA for BRPF1 Gene

4 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BRPF1

Alternative Splicing Database (ASD) splice patterns (SP) for BRPF1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d · 8e ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c · 13d ^
SP1:
SP2:
SP3: - - -
SP4:
SP5:
SP6: - - - -
SP7: - - -
SP8: - -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: -
SP15: - - -
SP16: -
SP17:
SP18: - - - - -
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:
SP27:

ExUns: 14 ^ 15a · 15b · 15c ^ 16a · 16b · 16c ^ 17a · 17b · 17c · 17d ^ 18 ^ 19a · 19b · 19c · 19d · 19e ^ 20a · 20b · 20c ^ 21 ^ 22a · 22b · 22c · 22d ^ 23 ^
SP1: - - - - - - - -
SP2: - - - - - - - - - - - - - - -
SP3:
SP4: - -
SP5: - - -
SP6:
SP7:
SP8:
SP9: -
SP10: - - - - - - -
SP11: - - - - -
SP12: - - - - - - - - -
SP13: - - -
SP14:
SP15:
SP16:
SP17: -
SP18:
SP19:
SP20: - - - - - - - - - - - - - - - - - -
SP21: - - - - - -
SP22: - - -
SP23: - - -
SP24: - -
SP25:
SP26:
SP27: -

ExUns: 24 ^ 25 ^ 26a · 26b · 26c · 26d
SP1: -
SP2: -
SP3:
SP4: -
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: -
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:
SP27: - -

Relevant External Links for BRPF1 Gene

GeneLoc Exon Structure for
BRPF1

Expression for BRPF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BRPF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BRPF1 Gene

This gene is overexpressed in Uterus (14.7), Nasopharynx (11.9), Peripheral blood mononuclear cells (11.5), and Adrenal (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BRPF1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BRPF1

SOURCE GeneReport for Unigene cluster for BRPF1 Gene:

Hs.1004

mRNA Expression by UniProt/SwissProt for BRPF1 Gene:

P55201-BRPF1_HUMAN
Tissue specificity: High levels in testis.

Evidence on tissue expression from TISSUES for BRPF1 Gene

  • Nervous system(4.4)
  • Liver(4.3)
  • Eye(4.1)
  • Blood(2.4)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with BRPF1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for BRPF1 Gene

Orthologs for BRPF1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for BRPF1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BRPF1 30 31
  • 99.73 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia BRPF1 31
  • 94 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia BRPF1 30 31
  • 93.99 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BRPF1 30 31
  • 93.11 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Brpf1 30 17 31
  • 91.87 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Brpf1 30
  • 91.78 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia BRPF1 31
  • 84 (a)
OneToOne
Chicken
(Gallus gallus)
Aves BRPF1 30 31
  • 81.64 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BRPF1 31
  • 90 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia brpf1 30
  • 73.31 (n)
Zebrafish
(Danio rerio)
Actinopterygii brpf1 30
  • 72.35 (n)
BRPF1 31
  • 62 (a)
OneToOne
zgc55530 30
Fruit Fly
(Drosophila melanogaster)
Insecta Br140 30 31
  • 57.51 (n)
OneToMany
CG1845 32
  • 44 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007617 30
  • 56.46 (n)
Worm
(Caenorhabditis elegans)
Secernentea lin-49 31 32
  • 23 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NTO1 31 33
  • 25 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 43 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2273 30
Species where no ortholog for BRPF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for BRPF1 Gene

ENSEMBL:
Gene Tree for BRPF1 (if available)
TreeFam:
Gene Tree for BRPF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BRPF1: view image

Paralogs for BRPF1 Gene

Paralogs for BRPF1 Gene

(3) SIMAP similar genes for BRPF1 Gene using alignment to 3 proteins:

  • BRPF1_HUMAN
  • C9JDK5_HUMAN
  • C9JHC0_HUMAN
genes like me logo Genes that share paralogs with BRPF1: view

Variants for BRPF1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BRPF1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
713778 Benign: not provided 9,734,494(+) G/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
715567 Benign: not provided 9,734,335(+) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
725803 Likely Benign: not provided 9,734,520(+) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
728067 Benign: not provided 9,743,809(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
731147 Likely Benign: not provided 9,745,030(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for BRPF1 Gene

Structural Variations from Database of Genomic Variants (DGV) for BRPF1 Gene

Variant ID Type Subtype PubMed ID
nsv1008805 CNV gain 25217958
nsv1010768 CNV gain 25217958

Variation tolerance for BRPF1 Gene

Residual Variation Intolerance Score: 1.05% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.53; 29.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BRPF1 Gene

Human Gene Mutation Database (HGMD)
BRPF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BRPF1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BRPF1 Gene

Disorders for BRPF1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for BRPF1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search BRPF1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BRPF1_HUMAN
  • Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) [MIM:617333]: An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and facial dysmorphisms, most notably ptosis. Additional features may include poor growth, hypotonia, and seizures. {ECO:0000269 PubMed:27939639, ECO:0000269 PubMed:27939640}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for BRPF1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with BRPF1: view

No data available for Genatlas for BRPF1 Gene

Publications for BRPF1 Gene

  1. Molecular basis of histone H3K36me3 recognition by the PWWP domain of Brpf1. (PMID: 20400950) Vezzoli A … Bycroft M (Nature structural & molecular biology 2010) 3 4 23
  2. BR140, a novel zinc-finger protein with homology to the TAF250 subunit of TFIID. (PMID: 7906940) Thompson KA … Ruoslahti E (Biochemical and biophysical research communications 1994) 2 3 4
  3. Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis. (PMID: 27939639) Mattioli F … Piton A (American journal of human genetics 2017) 3 4
  4. Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation. (PMID: 27939640) Yan K … Yang XJ (American journal of human genetics 2017) 3 4
  5. Exchange of associated factors directs a switch in HBO1 acetyltransferase histone tail specificity. (PMID: 24065767) Lalonde ME … Côté J (Genes & development 2013) 3 4

Products for BRPF1 Gene