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FLASH GENE
Symbol RUVBL2 contributors: mct - updated : 11-01-2012
HGNC name RuvB-like 2 (E. coli)
HGNC id 10475
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • ATPase and DNA helicase motifs
  • Walker A and B motifs
  • two ATP binding motifs of Reptin play a role in regulating the stability of the AGR2-RUVBL2 complex
  • HOMOLOGY
    interspecies homolog to E.coli RuvB,bacterial protein
    ortholog to yeast Rvb2p
    Homologene
    FAMILY
  • large AAA+ (adenosine triphosphatase associated with diverse cellular activities) superfamily of conserved proteins
  • CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    intracellular,nuclear envelope,matrix attachement regions
    text
  • nuclear matrix
  • highly expressed and is mainly distributed in the cytosol (
  • basic FUNCTION
  • single stranded DNA-stimulated ATPase and ATP-dependent DNA helicase
  • may play an important role in insulin-stimulated SLC2A4 translocation through its interaction with TBC1D4
  • regulates telomerase at two different levels
  • essential eukaryotic AAA+ ATPase involved in a variety of cellular processes, such as chromatin remodeling during double-strand break repair, transcriptional regulation, control of cell proliferation and small nucleolar RNA biogenesis
  • chromatin-remodeling factor, methylated at lysine 67 in hypoxic conditions by the methyltransferase EHMT2
  • may also function as a novel modulator of apoptosis pathway with PIH1D1
  • implicated in ETS2 mediated regulation of TERT in colon cancer which has functional and clinical consequences
  • 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
  • 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
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • chaperon complex R2TP composed of RUVBL1, RUVBL2, RPAP3, and PIH1D1 and prefoldin-like complex (including WDR92) in mammalian cells
  • INTERACTION
    DNA
    RNA
    small molecule
    ATP
    protein
  • 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
  • interaction with TBC1D4
  • RUVBL1 binding beta catenin in the region of Armadillo repeats, binding to the TATA box binding protein
  • AGR2-interacting protein
  • transcriptional regulator of TERT
  • RPAP3, RUVBL1, RUVBL2,and PIH1D1 were identified as WDR92 binding proteins
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in gastric cancer (
    tumoral     --over  
    in hepatocellular carcinoma (its overexpression enhances tumorigenicity, and it is required for tumor cell viability)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerdigestivestomach
    may be a putative therapeutic target
    ANIMAL & CELL MODELS