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FLASH GENE
Symbol RUVBL1 contributors: mct/pgu - updated : 31-08-2013
HGNC name RuvB-like 1 (E. coli)
HGNC id 10474
DNA
TYPE functioning gene
STRUCTURE 42.84 kb     11 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Binding site
motif
text structure plasminogen binding site
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 1785 - 456 - 2001 11027681
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Digestiveesophagus   highly
Lymphoid/Immunetonsils   highly
Reproductivefemale systemovary  highly
 male systemtestis  highly
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticmature hematopoietic Homo sapiensFetal
Blood/Hematopoieticprogenitor cell Homo sapiensFetal
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • ATPase/helicase motifs, two nuclear localization signals (NLS)
  • a myc domain essential for oncogenic activity
  • C terminal lysine
  • mono polymer homomer , heteromer , complex
    HOMOLOGY
    interspecies homolog to E.coli RUVB
    homolog to rattus Ruvbl1 (99.8pc)
    homolog to murine Ruvbl1 (99.8pc)
    Homologene
    FAMILY
  • large AAA+ (adenosine triphosphatase associated with diverse cellular activities) superfamily of conserved proteins
  • RUVB family
  • CATEGORY enzyme , DNA associated , antigen
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus,nucleoplasm
    text mainly localized in the nucleus, associated with nuclear matrix or in the nuclear cytosol, although it is also present in the cytoplasm and associated with the cell membranes
    basic FUNCTION
  • plays an essential role in oncogenic transformation by MYC and also modulates transcriptional activation by the LEF1/TCF1-CTNNB1 complex
  • important cofactor in beta-catenin/TCF gene regulation in normal and neoplastic cells, likely functioning in chromatin remodeling
  • may be able to bind plasminogen at cell surface and enhance plasminogen activation
  • possesses single-stranded DNA-stimulated ATPase and ATP-dependent DNA helicase (3' to 5') activity
  • essential for the box C/D snoRNP biogenesis
  • involved in transcription, DNA damage response, snoRNP assembly, cellular transformation, cancer metastasis
  • mitosis specific function in regulating microtubule assembly
  • is required for the histone acetyltransferase activity of the TIP60 complex, critical for dephosphorylation of phospho-H2AX (J
  • remodeling factor that possesses both ATPase and DNA helicase activities
  • essential for the function of both embryonic pluripotent cells and adult hematopoietic stem cells
  • RUVBL1 and RUVBL2, also known as Pontin and Reptin, are AAA+ proteins essential in small nucleolar ribonucloprotein biogenesis, chromatin remodelling, nonsense-mediated messenger RNA decay and telomerase assembly
  • RUVBL1, RUVBL2 act as molecular adaptors that can substitute for one another to facilitate the optimal assembly, heat stability, and function of the TIP60 complex
  • RUVBL1, RUVBL2 are required for efficient transcription of type I interferon-stimulated genes
  • CELLULAR PROCESS cell cycle, division, mitosis
    cell life, proliferation/growth
    nucleotide, transcription
    PHYSIOLOGICAL PROCESS immunity/defense
    text autoantigen
    PATHWAY
    metabolism
    signaling
    a component
  • component of a large nuclear protein complex including MYC, possibly the RNA polymerase II holozyme
  • component of the NuA4 histone acetyltransferase complex, . complex that may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis and DNA repair
  • component of the BAF53 complex
  • component of a complex made of RUVBL1/RUVBL2, possessing the ATPase activity
  • chaperon complex R2TP composed of RUVBL1, Reptin, RPAP3, and PIH1D1 and prefoldin-like complex (including WDR92) in mammalian cells
  • INO80 chromatin remodeling complex, comprising the INO80 and the associated proteins such as RUVBL1, has been implicated in a variety of nuclear processes other than transcription
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with RUVBL2 and stomatin, MYC
  • interacting with TATA box-binding proteins
  • binding to beta-catenin
  • interacting with OFD1
  • interacting with NOP56 and NOP58
  • interacting with EP400
  • associating with alpha and gamma tubulins, particularly during metaphase and early anaphase
  • interacting with NPAT
  • interacting with TERT and dyskerin, telomerase component essential for holoenzyme assembly
  • RUVBL2, RUVBL1 efficiently bridge interactions between the core box C/D proteins NOP56 or NOP58 and NHP2L1
  • RUVBL1 and RUVBL2 associate with each phosphatidylinositol 3-kinase-related protein kinase family member
  • EHF directly activates the transcription of RUVBL1, an ATPase associated with chromatin-remodelling complexe
  • blocks TP53-mediated apoptosis by repressing the expression of TP53 and its target genes
  • it is possible that RUVBL1 rather associates with the spindle via INO80 independent of the function for the microtubule assembly
  • RPAP3, RUVBL1, RUVBL2,and PIH1D1 were identified as WDR92 binding proteins
  • RUVBL1/RUVBL2 complex regulates PIKK-mediated stress responses through physical interactions with PIKKs (phosphatidylinositol 3-kinase-related protein kinase) and by controlling PIKK mRNA levelsv
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • pontin-positive colorectal carcinomas had a significantly worse recurrence-free survival
  • Therapy target
    SystemTypeDisorderPubmed
    cancer  
    targeting Pontin methylation and its downstream targets for the development of therapeutic agents for human cancers
    cancerdigestivecolon
    EHF and RUVBL1 might be promising molecular targets for the treatment of colon tumours
    ANIMAL & CELL MODELS