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FLASH GENE
Symbol BRPF1 contributors: mct/npt - updated : 01-03-2017
HGNC name bromodomain and PHD finger containing, 1
HGNC id 14255
Corresponding disease
IDDDFP intellectual developmental disorder with dysmorphic facies and ptosis
Location 3p25.3      Physical location : 9.773.433 - 9.789.697
Synonym name
  • peregrin
  • bromodomain-containing protein, 140kD
  • Synonym symbol(s) BR140
    DNA
    TYPE functioning gene
    STRUCTURE 16.29 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC391508 3 similar to Phosphoglycerate mutase 1 (Phosphoglycerate mutase isozyme B) (PGAM-B) (BPG-dependent PGAM 1) DKFZP434F091 3p25.3 DKFZP434F091 protein FLJ10707 3p25.3 hypothetical protein FLJ10707 LOC375323 3p25.3 lipoma HMGIC fusion partner-like protein 4 FLJ22405 3p26 hypothetical protein FLJ22405 LOC151835 3p25.3 copine family member BRPF1 3p26-p25 bromodomain and PHD finger containing, 1 OGG1 3p26.2 8-oxoguanine DNA glycosylase CAMK1 3p25.2 calcium/calmodulin-dependent protein kinase I TADA3L 3p25.3 transcriptional adaptor 3 (NGG1 homolog, yeast)-like ARPC4 3p25.3-p24.1 actin related protein 2/3 complex, subunit 4, 20kDa LOC389093 3 similar to RIKEN cDNA 4833441J24 DKFZP434B103 MGC29784 3p25.3 hypothetical protein MGC29784 CIDE-3 3p25.3 cell death activator CIDE-3 GL009 3p25.2 hypothetical protein GL009 IL17RE 3p25.3 interleukin 17 receptor E IL17RC 3p25.3 interleukin 17 receptor C CRELD1 3p25.3 cysteine-rich with EGF-like domains 1 FLJ33674 3p25.3 hypothetical protein FLJ33674 LOC55831 3p25.3 30 kDa protein HCP10 3p25.3 cytochrome c, somatic pseudogene LOC389094 3 LOC389094 CICE 3p25.3 cell death-inducing CIDE-like effector pseudogene FANCD2 3p25.3 Fanconi anemia, complementation group D2 HCP11 3p25.3 cytochrome c, somatic pseudogene MGC40179 3p25.3 hypothetical protein MGC40179 MDS027 3p25.3 uncharacterized hematopoietic stem/progenitor cells protein MDS027 VHL 3p26-p25 von Hippel-Lindau syndrome IRAK2 3p25.3 interleukin-1 receptor-associated kinase 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 4728 - 1220 - 2014 25281266
    14 - 4710 137 1214 - 2014 25281266
    13 - 4459 - 1119 - 2014 25281266
    14 - 4741 - 1213 - 2014 25281266
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node   highly
    Reproductivefemale systemuteruscervix highly
     male systemtestis  highly
    Skin/Tegumentskin   highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivespermatogonia
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal region interacts with the acetyltransferases
  • a bromodomain six zinc finger motifs with a unique assembly of zinc fingers, termed a PZP domain
  • a leucine zipper domain
  • a motif called PZPM (PHD/Zn-knuckle/PHD Motif) ,
  • two PHD fingers, for potential interactions with histones
  • an enhancer of polycomb (EPc) homology domain in the middle part binds to ING5 and MEAF6
  • a PWWP domain tha is a H3K36me3 binding module , and is absolutely essential for BRPF1 function
  • four nucleosome-binding domains
  • an unstructured 18-AA region at the C-terminal end of the catalytic domain is required for BRPF1 interaction (Ullah 2008)
  • HOMOLOGY
    intraspecies homolog to AF10
    homolog to AF17
    homolog to MLLT6
    Homologene
    FAMILY
    CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • functioning as a transcriptional co-activator
  • may be a part of the general transcriptional machinery
  • recruits KAT6A to distinct sites of active chromatin and remains at chromosomes during mitosis, mediated by direct histone binding of its bromodomain, which has a preference for acetylated histones
  • acts by multiple mechanisms to mediate KAT6A-dependent histone acetylation and to mark HOX genes for maintained expression throughout vertebrate development
  • enhances the transcriptional potential of KAT6A and a leukemic KAT6A-NCOA2 fusion protein (BRPF proteins play a key role in assembling and activating KAT6A/KAT6B acetyltransferase complexes)
  • play a key role in assembling and activating KAT6A/KAT6B acetyltransferase complexes
  • contributes to transcriptional memory throughout mitosis
  • scaffold component in a couple of histone acetyltransferase (HATs) complexes
  • important role in regulating forebrain development, suggesting that it acts as both an activator and a silencer of gene expression
  • plays a scaffolding role in transcription
  • essential role of the multivalent chromatin regulator BRPF1 in definitive hematopoiesis
  • is a multivalent chromatin regulator possessing three histone-binding domains, one non-specific DNA-binding module, and several motifs for interacting with and activating three lysine acetyltransferases
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • MYST3 and the related factor MYST4 form tetrameric complexes with ING5 (inhibitor of growth 5), MEAF6 (Esa1-associated factor 6 ortholog), and the bromodomain-PHD finger protein BRPF1, -2, or -3 (Ullah 2009)
  • subunit of the KAT6A/KAT6A H3 HAT complex
  • core subunit of the MOZ histone acetyltransferase (HAT) complex, critical for normal developmental programs and implicated in acute leukemias
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • functions in association with the histone acetyltransferase KAT6A, an interaction mediated by the N-terminal domain of BRPF1, and promotes histone acetylation
  • BRPF1, BRD1, BRPF3 bridge the association of KAT6A and KAT6B with ING5 and MEAF6
  • ZFAT-regulated BRPF1 expression was likely important for T-cell survival
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) IDDDFP
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    deregulates neuronal migration, cell cycle progression and transcriptional control, thereby causing abnormal morphogenesis of the hippocampus
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • ablation of the mouse Brpf1 gene causes embryonic lethality at E9.5