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FLASH GENE
Symbol RBBP7 contributors: mct/npt - updated : 04-02-2009
HGNC name retinoblastoma binding protein 7
HGNC id 9890
Location Xp22.2      Physical location : 16.862.776 - 16.888.534
Synonym name
  • G1/S transition control protein-binding protein RbAp46
  • retinoblastoma-binding protein 7
  • pRB-associated proteins p46
  • retinoblastoma-binding protein RbAp46
  • histone acetyltransferase type B subunit 2
  • Synonym symbol(s) RBAP46, Mis16, MGC138867, MGC138868, RBBP-7
    DNA
    TYPE functioning gene
    STRUCTURE 25.69 kb     12 Exon(s)    1 Copie(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC392428 X similar to nucleophosmin 1; nucleolar phosphoprotein B23; numatrin; nucleophosmin/nucleoplasmin family, member 1 FLJ34064 Xp22.31 hypothetical protein FLJ34064 MGC26706 Xp22.31 hypothetical protein MGC26706 ASB9 Xp ankyrin repeat and SOCS box-containing 9 ASB11 Xp22.31 ankyrin repeat and SOCS box-containing 11 PIGA Xp22.1 phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria) FIGF Xp22.1 c-fos induced growth factor (vascular endothelial growth factor D) PIR Xp22.31 c-fos induced growth factor (vascular endothelial growth factor D) BMX Xp22.2 BMX non-receptor tyrosine kinase ACE2 Xp22 angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 NX17 Xp22 kidney-specific membrane protein LOC340591 Xp22.31 similar to carbonic anhydrase VB, mitochondrial precursor; carbonic dehydratase CA5B Xp22.1 carbonic anhydrase VB, mitochondrial U2AF1L2 Xp22.1 U2(RNU2) small nuclear RNA auxiliary factor 1-like 2 AP1S2 Xp36.3-p21.3 adaptor-related protein complex 1, sigma 2 subunit GRPR Xp22.2-p22.13 gastrin-releasing peptide receptor LOC139451 Xp22.22 similar to melanoma antigen, family B, 4; melanoma-associated antigen B4 LOC139452 Xp22.22 similar to 60S ribosomal protein L6 (TAX-responsive enhancer element binding protein 107) (TAXREB107) (Neoplasm-related protein C140) LOC392429 X similar to Hspcb protein CTPS2 Xp22 CTP synthase II CALB3 Xp22.2 calbindin 3, (vitamin D-dependent calcium binding protein) SYAP1 Xp22.31 synapse associated protein 1, SAP47 homolog (Drosophila) CXorf15 Xp22.22 chromosome X open reading frame 15 RBBP7 Xp22.31 retinoblastoma binding protein 7 RNU4P6 Xp22.22 RNA, U4 small nuclear pseudogene 6 REPS2 Xp22.22 RALBP1 associated Eps domain containing 2 PRO0386 Xp22.22 hypothetical protein PRO0386 NHS Xp22.13 Nance-Horan syndrome (congenital cataracts and dental anomalies) SCML1 Xp22 sex comb on midleg-like 1 (Drosophila) LOC392430 X similar to dJ40E16.3 (novel gene similar to D. melanogaster CG5327 ) RAI2 Xp22 retinoic acid induced 2 LOC392431 X similar to Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse) MGC33653 Xp22.22 hypothetical protein MGC33653 SCML2 Xp22 sex comb on midleg-like 2 (Drosophila) CDKL5 Xp22 cyclin-dependent kinase-like 5 RS1 Xp22.2 retinoschisis (X-linked, juvenile) 1 PPEF1 Xp22.2-p22.1 protein phosphatase, EF hand calcium-binding domain 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 2021 47.7 425 - Murzina (2008)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineparathyroid   highly
    Reproductivefemale systemuteruscervix highly
     female systemuterus  highly
     male systemtestis  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • six WD40 repeats
  • HOMOLOGY
    interspecies homolog to murine Rbbp7
    homolog to yeast Mis16
    intraspecies homolog to highly to RBBP4
    Homologene
    FAMILY
  • WD repeat RBAP46/RBAP48/MSI1 family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • histone chaperones that play key roles in establishing and maintaining chromatin structure (Murzina 2008)
  • required with RBBP4 for the recruitment of CENPA to the kinetochores
  • associated with chromatin remodeling, histone deacetylation, and transcription repression, as proteins associated with the DNA-bound ESR1 (Creekmore 2008)
  • having a role in regulating gene expression (Creekmore 2008)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component part of PRC2 complex containing four core components: EZH2, EED, SUZ12, and RBBP7
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interact with ESR1 (modulates estrogen responsiveness in a gene-specific manner) (Creekmore 2008)
  • RBBP4-MTA1 interaction is essential for the integration of RBBP7/RBBP4 into the NuRD complex
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in breast carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS