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FLASH GENE
Symbol PBRM1 contributors: mct/pgu - updated : 05-05-2010
HGNC name polybromo 1
HGNC id 30064
Location 3p21.1      Physical location : 52.579.367 - 52.719.866
Synonym name
  • polybromo 1, chick homolog
  • BRG1/bone-associated factor 180
  • Polybromo-associated BRG1-associated factor
  • protein polybromo-1
  • Synonym symbol(s) BAF180, PB1, MGC156155, MGC156156, PBAF
    DNA
    TYPE functioning gene
    STRUCTURE 140.50 kb     28 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    28 - 7550 - 1602 - 2005 15985610
    30 - 7592 - 1582 - 2005 15985610
    28 - 7490 - 1582 - 2005 15985610
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinnercochlea highly
    Lymphoid/Immunelymph node   highly
    Nervousnerve   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • six bromodomains
  • two bromo-adjacent homology (BAH) regions
  • one high mobility group (HMG) motif
  • HOMOLOGY
    interspecies ortholog to yeast S.cerevisiae Rsx
    Homologene
    FAMILY
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,chromatin/chromosome,kinetochore
    text kinetochores of mitotic chromosomes during interphase colocalizing with dynein in cytoplasm during prometaphase
    basic FUNCTION
  • cofactor necessary for ligand transactivation by nuclear hormone receptors
  • involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology)
  • suppresses tumorigenesis, at least in part, through its ability to regulate CDKN1A
  • with CHD7, during neural crest (NC) formation synergistically regulate activity of distal genomic elements that control the expression of critical NC transcription factors, in turn allowing for transcriptional reprogramming, acquisition of multipotency and migratory potential
  • BRD7 and PBRM1 are unique regulators of replicative senescence in human cells
  • repressor of IL10 transcription in Th2 cells, suggesting that the differential recruitment of different SWI/SNF subtypes can have direct consequences on chromatin structure and gene transcription)
  • CELLULAR PROCESS cell cycle,division,meiosis
    nucleotide, chromatin organization, methylation
    nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the SWI/SNF-B (PBAF) chromatin remodeling complex, which contains at least SMARCA4/BRG1,
  • SMARCB1/SNF5/INI1/BAF47, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B,
    perhaps SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170,
    PB1/BAF180, ARID2/BAF200, ARID1A/BAF250A or ARID1B/BAF250B and actin
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with CHD7 (cooperate to promote neural crest gene expression and cell migration)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   LOH    
    in breast cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS