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Aliases for BRPF1 Gene

Aliases for BRPF1 Gene

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

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 Harel-Yoon Syndrome. Among its related pathways are Chromatin organization and Gene Expression. An important paralog of this gene is BRD1.

UniProtKB/Swiss-Prot for BRPF1 Gene

  • Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity (PubMed:16387653, PubMed:27939640). Preferentially mediates histone H3-K23 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.

Additional gene information for BRPF1 Gene

No data available for CIViC summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BRPF1 Gene

Genomics for BRPF1 Gene

Regulatory Elements for BRPF1 Gene

Enhancers for BRPF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H010188 2.1 FANTOM5 Ensembl ENCODE dbSUPER 93.2 +463.1 463116 12 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A ZNF2 ZBTB7B YY1 ZNF143 BRPF1 SETD5 IRAK2 GHRLOS LINC00852 TATDN2 FANCD2 BRK1 GHRL TTLL3
GH03H009394 1.4 ENCODE dbSUPER 95.9 -332.7 -332738 9 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D GLIS1 BRPF1 RAD18 SETD5 TTLL3 SRGAP3-AS3 FANCD2 SRGAP3-AS1 THUMPD3-AS1 EMC3-AS1 JAGN1
GH03H009889 1.4 ENCODE dbSUPER 68.7 +159.1 159089 2 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF207 BRPF1 RAD18 SETD5 JAGN1 FANCD2 GHRLOS TTLL3 SEC13 LINC00852 BRK1
GH03H009730 1.2 ENCODE 44 +0.3 305 3 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 SETD5 BRPF1 SRGAP3-AS3 THUMPD3-AS1 CYCSP10 RAD18 SRGAP3-AS1 ENSG00000269982 ENSG00000269886 EMC3-AS1
GH03H009362 1.2 ENCODE 43.6 -368.5 -368527 2 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A ZNF610 BRPF1 RAD18 SETD5 THUMPD3-AS1 SRGAP3 GHRLOS FANCD2 LINC00852 THUMPD3 TTLL3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BRPF1 on UCSC Golden Path with GeneCards custom track

Promoters for BRPF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000148304 -29 2201 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1

Genomic Location for BRPF1 Gene

Chromosome:
3
Start:
9,731,729 bp from pter
End:
9,748,018 bp from pter
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 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 with trimethylated Lys-36 of histone H3 (H3K36me3) (PubMed:20400950, PubMed:21720545). May interact 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):
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for BRPF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for BRPF1 Gene

Function for BRPF1 Gene

Molecular function for BRPF1 Gene

UniProtKB/Swiss-Prot Function:
Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity (PubMed:16387653, PubMed:27939640). Preferentially mediates histone H3-K23 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:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 25281266
GO:0043994 contributes_to histone acetyltransferase activity (H3-K23 specific) IDA 27939640
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with BRPF1: view
genes like me logo Genes that share phenotypes with BRPF1: view

Animal Models for BRPF1 Gene

MGI Knock Outs for BRPF1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for BRPF1
  • Applied Biological Materials Clones for BRPF1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Localization for BRPF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BRPF1 Gene

Nucleus. Cytoplasm. Note=Localization to the nucleus depends on KAT6A, ING5 and MEAF6. {ECO:0000269 PubMed:18794358, 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

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:0005634 nucleus IEA,IDA 18794358
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA,IEA 27939640
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA --
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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0016569 covalent chromatin modification IEA --
GO:0043966 histone H3 acetylation IDA 16387653
GO:0043972 histone H3-K23 acetylation IMP 27939640
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

Unigene Clusters for BRPF1 Gene

Bromodomain and PHD finger containing, 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for BRPF1
  • Applied Biological Materials Clones for BRPF1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
BRPF1

Expression for BRPF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for BRPF1 Gene



NURSA nuclear receptor signaling pathways regulating expression of BRPF1 Gene:

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

  • Liver(4.2)
  • Eye(4.1)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with BRPF1: view

Primer Products

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 33 34
  • 99.73 (n)
oppossum
(Monodelphis domestica)
Mammalia BRPF1 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BRPF1 33 34
  • 93.99 (n)
cow
(Bos Taurus)
Mammalia BRPF1 33 34
  • 93.11 (n)
mouse
(Mus musculus)
Mammalia Brpf1 33 16 34
  • 91.87 (n)
rat
(Rattus norvegicus)
Mammalia Brpf1 33
  • 91.78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BRPF1 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves BRPF1 33 34
  • 81.64 (n)
lizard
(Anolis carolinensis)
Reptilia BRPF1 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia brpf1 33
  • 73.31 (n)
zebrafish
(Danio rerio)
Actinopterygii brpf1 33
  • 72.35 (n)
BRPF1 34
  • 62 (a)
OneToOne
zgc55530 33
fruit fly
(Drosophila melanogaster)
Insecta Br140 33 34
  • 57.51 (n)
CG1845 35
  • 44 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007617 33
  • 56.46 (n)
worm
(Caenorhabditis elegans)
Secernentea lin-49 35 34
  • 30 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NTO1 36 34
  • 25 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2273 33
Species where no ortholog for BRPF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for BRPF1 Gene

Paralogs for BRPF1 Gene

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

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

Variants for BRPF1 Gene

Sequence variations from dbSNP and Humsavar for BRPF1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_078077 Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) [MIM:617333]
VAR_078078 Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) [MIM:617333]
rs1057519509 Pathogenic 9,739,507(+) TAGAG(C/T)CTATT nc-transcript-variant, reference, missense
rs1057519510 Pathogenic 9,739,762(+) CACGC(C/T)GACTG nc-transcript-variant, reference, stop-gained
rs1057519511 Pathogenic 9,734,502(+) GTCAG(-/AG)GATGA nc-transcript-variant, reference, frameshift-variant

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)

Relevant External Links for BRPF1 Gene

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

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

Disorders for BRPF1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for BRPF1 Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, 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.

Relevant External Links for BRPF1

Genetic Association Database (GAD)
BRPF1
Human Genome Epidemiology (HuGE) Navigator
BRPF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BRPF1
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 22 60
  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 60
  3. 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 60
  4. 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 60
  5. Structural and histone binding ability characterizations of human PWWP domains. (PMID: 21720545) Wu H … Min J (PloS one 2011) 3 4 60

Products for BRPF1 Gene

  • Addgene plasmids for BRPF1

Sources for BRPF1 Gene

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