Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
Symbol RUVBL1 contributors: mct/pgu - updated : 31-08-2013
HGNC name RuvB-like 1 (E. coli)
HGNC id 10474
Location 3q21.3      Physical location : 127.799.800 - 127.842.671
Synonym name
  • nuclear matrix protein 238/pontin 52
  • erythrocyte cytosolic protein 54kDa
  • TATA box binding protein interacting protein 49 KD
  • RuvB (E coli homolog)-like 1
  • pontin
  • INO80 complex subunit H
  • TIP60-associated protein 54-alpha
  • nuclear matrix protein 238
  • Synonym symbol(s) ECP54, TIP49, NMP238, TIP49A, TIH1, Rvb1, INO80H, Pontin
    EC.number 3.6.1.-
    TYPE functioning gene
    STRUCTURE 42.84 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site
    text structure plasminogen binding site
    MAPPING cloned Y linked N status confirmed
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 1785 - 456 - 2001 11027681
    Type ubiquitous
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveesophagus   highly
    Lymphoid/Immunetonsils   highly
    Reproductivefemale systemovary  highly
     male systemtestis  highly
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticmature hematopoietic Homo sapiensFetal
    Blood/Hematopoieticprogenitor cell Homo sapiensFetal
    cell lineage
    cell lines
    at STAGE
  • ATPase/helicase motifs, two nuclear localization signals (NLS)
  • a myc domain essential for oncogenic activity
  • C terminal lysine
  • mono polymer homomer , heteromer , complex
    interspecies homolog to E.coli RUVB
    homolog to rattus Ruvbl1 (99.8pc)
    homolog to murine Ruvbl1 (99.8pc)
  • large AAA+ (adenosine triphosphatase associated with diverse cellular activities) superfamily of conserved proteins
  • RUVB family
  • CATEGORY enzyme , DNA associated , antigen
    SUBCELLULAR LOCALIZATION     intracellular
    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
    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
    small molecule
  • 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
    corresponding disease(s)
    Variant & Polymorphism
    Candidate gene
  • pontin-positive colorectal carcinomas had a significantly worse recurrence-free survival
  • Therapy target
    targeting Pontin methylation and its downstream targets for the development of therapeutic agents for human cancers
    EHF and RUVBL1 might be promising molecular targets for the treatment of colon tumours