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FLASH GENE
Symbol RBBP9 contributors: mct/npt - updated : 28-11-2018
HGNC name retinoblastoma binding protein 9
HGNC id 9892
Location 20p11.23      Physical location : 18.467.189 - 18.477.887
Synonym name
  • B5T overexpressed gene protein
  • retinoblastoma-binding protein 10
  • protein BOG
  • Synonym symbol(s) BOG, RBBP10, MGC9236, RBBP10
    EC.number 3.-.-.-
    DNA
    TYPE functioning gene
    STRUCTURE 10.70 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 splicing 3871 21 186 - Chen (2002)
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveintestinesmall intestine   
    Nervousbrain    
    Reproductivemale systemtestis   
    Respiratorylung    
    Urinarykidney    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • Rb-binding motif LXCXE
  • HOMOLOGY
    interspecies homolog to murine Bog Rbbp9
    homolog to rattus Rbbp9
    Homologene
    FAMILY
  • RBBP9 family
  • CATEGORY enzyme , regulatory , protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • inhibiting TGFB1 activity by displacing E2F1 when overexpressed
  • positive control of cell proliferation and differentiation
  • playing a role in oncogenesis
  • modulates sex-specific radiation responses (Cassie 2006)
  • role for RBBP9 in tumor cell proliferation (Shields 2010)
  • acting as an inhibitor of basal or autocrine TGF-beta signaling and having a role in the suppression of Smad2/3 phosphorylation (Shields 2010
  • tumor-associated serine hydrolase that displays elevated activity during neoplasia (Shields 2010)
  • RBBP4, RBBP9 are required for maintenance of multiple human pluripotent stem (PS) cell types
  • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS
    text cell cycle control
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • retinoblastoma binding
  • inhibits neoplastic TGF-beta signaling through suppression of Smad2/3 phosphorylation, which in turn promotes proliferation as well as tumor cell cohesiveness, implicating this tumor-associated serine hydrolase as a key enzyme in malignant transformation (Shields 2010)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in pancreatic carcinoma cells (Shields 2010)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • CYFIP2 and RBBP9 are two novel ALS (amyotrophic lateral sclerosis) potential biomarkers in non-neural tissues from ALS patients that may have direct diagnostic and therapeutic implications to the disease
  • Therapy target
    ANIMAL & CELL MODELS