Atlas of Genetics and Cytogenetics in Oncology and Haematology


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RUVBL2 (RuvB-like 2 (E. coli))

Written2009-03Aude Grigoletto, Valérie Haurie, Jean Rosenbaum
INSERM U889, Universite Victor Segalen Bordeaux 2, 146 rue Leo Saignat, 33076 Bordeaux, France

(Note : for Links provided by Atlas : click)

Identity

Alias_namesRuvB (E coli homolog)-like 2
RuvB-like 2 (E. coli)
Alias_symbol (synonym)RVB2
TIP48
TIP49b
Reptin52
ECP51
TIH2
INO80J
Rvb2
HGNC (Hugo) RUVBL2
LocusID (NCBI) 10856
Atlas_Id 42185
Location 19q13.33  [Link to chromosome band 19q13]
Location_base_pair Starts at 49496705 and ends at 49519252 bp from pter ( according to hg19-Feb_2009)  [Mapping RUVBL2.png]

DNA/RNA

Description 15 exons, 14 introns (Parfait et al., 2000).
Transcription 1518bp mRNA with 463aa open reading frame.

Protein

Description 463 amino acids, 52 kDa.
RUVBL2 belongs to the AAA+ ATPase superfamily (ATPases associated with diverse cellular activities) sharing conserved Walker A and B motifs, arginine fingers, and sensor domains. The monomers contain two domains, which are involved in ATP binding and hydrolysis respectively. RUVBL2 assembles into an hexameric structure with a central channel.
RUVBL2 interacts with RUVBL1 to form a dodecamer (Puri et al., 2007). This RUVBL1/RUVBL2 complex displays a significant ATPase activity and is likely one of the functional forms of the proteins.
Sumoylation of RUVBL2 has been reported on Lys456 in invasive prostate cancer cells (Kim et al., 2006).
RUVBL2 is phosphorylated on an ATM/ATR consensus site following DNA damage (Matsuoka et al., 2007).
Expression Expression of RUVBL2 is ubiquitous but especially abundant in thymus and testis (Salzer et al., 1999; Parfait et al., 2000).
RUVBL2 is overexpressed in hepatocellular carcinoma (Rousseau et al., 2007). Overexpression of RUVBL2 in several cancers and its possible role in human cancers has been reported (reviewed in Huber et al., 2008).
Localisation Cytoplasm and nucleus.
Function RUVBL2 interacts with c-myc (Wood et al., 2000) and also modulates transcriptional regulation by the beta-catenin/TCF-LEF complex (Bauer et al., 2000) and ATF2 (Cho et al., 2001).
RUVBL2 participates in the remodelling of chromatin as a member of several complexes such as TIP60 (Ikura et al., 2000), INO80 (Jin et al., 2005), SRCAP (Cai et al., 2005).
It is also involved in transcriptional regulation (reviewed in Gallant, 2007), DNA repair (Gospodinov et al., 2008), snoRNP biogenesis (Watkins et al., 2002), and telomerase activity (Venteicher et al., 2008).
RUVBL2 silencing in fibroblasts induces a senescent phenotype (Chan et al., 2005).

Implicated in

Note
Entity Hepatocellular carcinoma (HCC)
Disease RUVBL2 was found to be overexpressed in 75% of cases in a series of 96 human HCC studied with real-time RT-PCR (Rousseau et al., 2007). It was also increased in a smaller 15 cases series (Iizuka et al., 2006). No mutations in the coding sequence were identified (Rousseau et al., 2007).
Prognosis Overexpression of RUVBL2 was an independent factor of poor prognosis (Rousseau et al., 2007).
Oncogenesis RUVBL2 depletion with siRNAs led to HCC cell growth arrest and apoptosis, whereas overexpression in HCC cells allowed these cells to give rise to more progressive tumors in xenografts than control cells (Rousseau et al., 2007).
  
Entity Colon cancer
Disease RUVBL2 was overexpressed in a series of 18 colon cancers (Graudens et al., 2006).
  
Entity Melanoma
Disease RUVBL2 was overexpressed in a series of 45 melanomas (Talantov et al., 2005).
  
Entity Bladder carcinoma
Disease RUVBL2 was overexpressed in a series of 108 bladder carcinomas (Sanchez-Carbayo et al., 2006).
  
Entity Prostate cancer
Oncogenesis In conjunction with beta-catenin, RUVBL2 represses the expression of the anti-metastasis gene KAI-1 (Kim et al., 2005) and is involved in the invasive phenotype of cultured prostate cancer cells (Kim et al., 2006).
  

Bibliography

Pontin52 and reptin52 function as antagonistic regulators of beta-catenin signalling activity.
Bauer A, Chauvet S, Huber O, Usseglio F, Rothbacher U, Aragnol D, Kemler R, Pradel J.
EMBO J. 2000 Nov 15;19(22):6121-30.
PMID 11080158
 
The mammalian YL1 protein is a shared subunit of the TRRAP/TIP60 histone acetyltransferase and SRCAP complexes.
Cai Y, Jin J, Florens L, Swanson SK, Kusch T, Li B, Workman JL, Washburn MP, Conaway RC, Conaway JW.
J Biol Chem. 2005 Apr 8;280(14):13665-70. Epub 2005 Jan 11.
PMID 15647280
 
The p400 E1A-associated protein is a novel component of the p53 --> p21 senescence pathway.
Chan HM, Narita M, Lowe SW, Livingston DM.
Genes Dev. 2005 Jan 15;19(2):196-201.
PMID 15655109
 
TIP49b, a regulator of activating transcription factor 2 response to stress and DNA damage.
Cho SG, Bhoumik A, Broday L, Ivanov V, Rosenstein B, Ronai Z.
Mol Cell Biol. 2001 Dec;21(24):8398-413.
PMID 11713276
 
Control of transcription by Pontin and Reptin.
Gallant P.
Trends Cell Biol. 2007 Apr;17(4):187-92. Epub 2007 Feb 22. Review
PMID 17320397
 
RAD51 foci formation in response to DNA damage is modulated by TIP49.
Gospodinov A, Tsaneva I, Anachkova B.
Int J Biochem Cell Biol. 2009 Apr;41(4):925-33. Epub 2008 Sep 13.
PMID 18834951
 
Deciphering cellular states of innate tumor drug responses.
Graudens E, Boulanger V, Mollard C, Mariage-Samson R, Barlet X, Gremy G, Couillault C, Lajemi M, Piatier-Tonneau D, Zaborski P, Eveno E, Auffray C, Imbeaud S.
Genome Biol. 2006;7(3):R19. Epub 2006 Mar 15.
PMID 16542501
 
Pontin and reptin, two related ATPases with multiple roles in cancer.
Huber O, Menard L, Haurie V, Nicou A, Taras D, Rosenbaum J.
Cancer Res. 2008 Sep 1;68(17):6873-6. Review
PMID 18757398
 
Involvement of c-myc-regulated genes in hepatocellular carcinoma related to genotype-C hepatitis B virus.
Iizuka N, Tsunedomi R, Tamesa T, Okada T, Sakamoto K, Hamaguchi T, Yamada-Okabe H, Miyamoto T, Uchimura S, Hamamoto Y, Oka M.
J Cancer Res Clin Oncol. 2006 Jul;132(7):473-81. Epub 2006 Apr 25.
PMID 16703398
 
Involvement of the TIP60 histone acetylase complex in DNA repair and apoptosis.
Ikura T, Ogryzko VV, Grigoriev M, Groisman R, Wang J, Horikoshi M, Scully R, Qin J, Nakatani Y.
Cell. 2000 Aug 18;102(4):463-73.
PMID 10966108
 
A mammalian chromatin remodeling complex with similarities to the yeast INO80 complex.
Jin J, Cai Y, Yao T, Gottschalk AJ, Florens L, Swanson SK, Gutierrez JL, Coleman MK, Workman JL, Mushegian A, Washburn MP, Conaway RC, Conaway JW.
J Biol Chem. 2005 Dec 16;280(50):41207-12. Epub 2005 Oct 17.
PMID 16230350
 
Roles of sumoylation of a reptin chromatin-remodelling complex in cancer metastasis.
Kim JH, Choi HJ, Kim B, Kim MH, Lee JM, Kim IS, Lee MH, Choi SJ, Kim KI, Kim SI, Chung CH, Baek SH.
Nat Cell Biol. 2006 Jun;8(6):631-9. Epub 2006 May 14.
PMID 16699503
 
Transcriptional regulation of a metastasis suppressor gene by Tip60 and beta-catenin complexes.
Kim JH, Kim B, Cai L, Choi HJ, Ohgi KA, Tran C, Chen C, Chung CH, Huber O, Rose DW, Sawyers CL, Rosenfeld MG, Baek SH.
Nature. 2005 Apr 14;434(7035):921-6.
PMID 15829968
 
ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.
Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ.
Science. 2007 May 25;316(5828):1160-6.
PMID 17525332
 
Human TIP49b/RUVBL2 gene: genomic structure, expression pattern, physical link to the human CGB/LHB gene cluster on chromosome 19q13.3.
Parfait B, Giovangrandi Y, Asheuer M, Laurendeau I, Olivi M, Vodovar N, Vidaud D, Vidaud M, Bieche I.
Ann Genet. 2000 Apr-Jun;43(2):69-74.
PMID 10998447
 
Dodecameric structure and ATPase activity of the human TIP48/TIP49 complex.
Puri T, Wendler P, Sigala B, Saibil H, Tsaneva IR.
J Mol Biol. 2007 Feb 9;366(1):179-92. Epub 2006 Nov 11.
PMID 17157868
 
Overexpression and role of the ATPase and putative DNA helicase RuvB-like 2 in human hepatocellular carcinoma.
Rousseau B, Menard L, Haurie V, Taras D, Blanc JF, Moreau-Gaudry F, Metzler P, Hugues M, Boyault S, Lemiere S, Canron X, Costet P, Cole M, Balabaud C, Bioulac-Sage P, Zucman-Rossi J, Rosenbaum J.
Hepatology. 2007 Oct;46(4):1108-18.
PMID 17657734
 
Isolation, molecular characterization, and tissue-specific expression of ECP-51 and ECP-54 (TIP49), two homologous, interacting erythroid cytosolic proteins.
Salzer U, Kubicek M, Prohaska R.
Biochim Biophys Acta. 1999 Sep 3;1446(3):365-70.
PMID 10524211
 
Defining molecular profiles of poor outcome in patients with invasive bladder cancer using oligonucleotide microarrays.
Sanchez-Carbayo M, Socci ND, Lozano J, Saint F, Cordon-Cardo C.
J Clin Oncol. 2006 Feb 10;24(5):778-89. Epub 2006 Jan 23.
PMID 16432078
 
Novel genes associated with malignant melanoma but not benign melanocytic lesions.
Talantov D, Mazumder A, Yu JX, Briggs T, Jiang Y, Backus J, Atkins D, Wang Y.
Clin Cancer Res. 2005 Oct 15;11(20):7234-42.
PMID 16243793
 
Identification of ATPases pontin and reptin as telomerase components essential for holoenzyme assembly.
Venteicher AS, Meng Z, Mason PJ, Veenstra TD, Artandi SE.
Cell. 2008 Mar 21;132(6):945-57.
PMID 18358808
 
Conserved stem II of the box C/D motif is essential for nucleolar localization and is required, along with the 15.5K protein, for the hierarchical assembly of the box C/D snoRNP.
Watkins NJ, Dickmanns A, Luhrmann R.
Mol Cell Biol. 2002 Dec;22(23):8342-52.
PMID 12417735
 
The histidine triad protein Hint1 interacts with Pontin and Reptin and inhibits TCF-beta-catenin-mediated transcription.
Weiske J, Huber O.
J Cell Sci. 2005 Jul 15;118(Pt 14):3117-29.
PMID 16014379
 
An ATPase/helicase complex is an essential cofactor for oncogenic transformation by c-Myc.
Wood MA, McMahon SB, Cole MD.
Mol Cell. 2000 Feb;5(2):321-30.
PMID 10882073
 

Citation

This paper should be referenced as such :
Grigoletto, A ; Haurie, V ; Rosenbaum, J. RUVBL2 (RuvB-like 2 (E
coli))
Atlas Genet Cytogenet Oncol Haematol. 2010;14(3):301-300.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/RUVBL2ID42185ch19q13.html


External links

Nomenclature
HGNC (Hugo)RUVBL2   10475
Cards
AtlasRUVBL2ID42185ch19q13
Entrez_Gene (NCBI)RUVBL2  10856  RuvB like AAA ATPase 2
AliasesCGI-46; ECP-51; ECP51; INO80J; 
REPTIN; RVB2; TAP54-beta; TIH2; TIP48; TIP49B
GeneCards (Weizmann)RUVBL2
Ensembl hg19 (Hinxton)ENSG00000183207 [Gene_View]  chr19:49496705-49519252 [Contig_View]  RUVBL2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000183207 [Gene_View]  chr19:49496705-49519252 [Contig_View]  RUVBL2 [Vega]
ICGC DataPortalENSG00000183207
TCGA cBioPortalRUVBL2
AceView (NCBI)RUVBL2
Genatlas (Paris)RUVBL2
WikiGenes10856
SOURCE (Princeton)RUVBL2
Genetics Home Reference (NIH)RUVBL2
Genomic and cartography
GoldenPath hg19 (UCSC)RUVBL2  -     chr19:49496705-49519252 +  19q13.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RUVBL2  -     19q13.33   [Description]    (hg38-Dec_2013)
EnsemblRUVBL2 - 19q13.33 [CytoView hg19]  RUVBL2 - 19q13.33 [CytoView hg38]
Mapping of homologs : NCBIRUVBL2 [Mapview hg19]  RUVBL2 [Mapview hg38]
OMIM604788   
Gene and transcription
Genbank (Entrez)AB024301 AF124607 AF151804 AF155138 AF401216
RefSeq transcript (Entrez)NM_001321190 NM_001321191 NM_006666
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RUVBL2
Cluster EST : UnigeneHs.515846 [ NCBI ]
CGAP (NCI)Hs.515846
Alternative Splicing GalleryENSG00000183207
Gene ExpressionRUVBL2 [ NCBI-GEO ]   RUVBL2 [ EBI - ARRAY_EXPRESS ]   RUVBL2 [ SEEK ]   RUVBL2 [ MEM ]
Gene Expression Viewer (FireBrowse)RUVBL2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10856
GTEX Portal (Tissue expression)RUVBL2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y230   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y230  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y230
Splice isoforms : SwissVarQ9Y230
Catalytic activity : Enzyme3.6.4.12 [ Enzyme-Expasy ]   3.6.4.123.6.4.12 [ IntEnz-EBI ]   3.6.4.12 [ BRENDA ]   3.6.4.12 [ KEGG ]   
PhosPhoSitePlusQ9Y230
Domains : Interpro (EBI)AAA+_ATPase    P-loop_NTPase    RuvB-like    TIP49_C   
Domain families : Pfam (Sanger)TIP49 (PF06068)   
Domain families : Pfam (NCBI)pfam06068   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)RUVBL2
DMDM Disease mutations10856
Blocks (Seattle)RUVBL2
PDB (SRS)2CQA    2XSZ    3UK6   
PDB (PDBSum)2CQA    2XSZ    3UK6   
PDB (IMB)2CQA    2XSZ    3UK6   
PDB (RSDB)2CQA    2XSZ    3UK6   
Structural Biology KnowledgeBase2CQA    2XSZ    3UK6   
SCOP (Structural Classification of Proteins)2CQA    2XSZ    3UK6   
CATH (Classification of proteins structures)2CQA    2XSZ    3UK6   
SuperfamilyQ9Y230
Human Protein AtlasENSG00000183207
Peptide AtlasQ9Y230
HPRD16070
IPIIPI00009104   IPI01014133   IPI00909925   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y230
IntAct (EBI)Q9Y230
FunCoupENSG00000183207
BioGRIDRUVBL2
STRING (EMBL)RUVBL2
ZODIACRUVBL2
Ontologies - Pathways
QuickGOQ9Y230
Ontology : AmiGObox C/D snoRNP assembly  Swr1 complex  RNA polymerase II core promoter sequence-specific DNA binding  RNA polymerase II distal enhancer sequence-specific DNA binding  TFIID-class transcription factor binding  DNA helicase activity  ATP-dependent DNA helicase activity  protein binding  ATP binding  intracellular  nucleus  nucleoplasm  nucleoplasm  nuclear euchromatin  cytoplasm  DNA repair  DNA recombination  chromatin remodeling  transcription, DNA-templated  protein folding  membrane  nuclear matrix  ATPase activity  intracellular ribonucleoprotein complex  Ino80 complex  chromatin DNA binding  DNA duplex unwinding  cellular response to UV  positive regulation of histone acetylation  NuA4 histone acetyltransferase complex  regulation of growth  identical protein binding  identical protein binding  protein homodimerization activity  ATP-dependent 5'-3' DNA helicase activity  ADP binding  histone H4 acetylation  histone H2A acetylation  positive regulation of transcription from RNA polymerase II promoter  unfolded protein binding  ATPase binding  extracellular exosome  establishment of protein localization to chromatin  MLL1 complex  cellular response to estradiol stimulus  transcriptional activation by promoter-enhancer looping  negative regulation of estrogen receptor binding  R2TP complex  positive regulation of telomerase RNA localization to Cajal body  
Ontology : EGO-EBIbox C/D snoRNP assembly  Swr1 complex  RNA polymerase II core promoter sequence-specific DNA binding  RNA polymerase II distal enhancer sequence-specific DNA binding  TFIID-class transcription factor binding  DNA helicase activity  ATP-dependent DNA helicase activity  protein binding  ATP binding  intracellular  nucleus  nucleoplasm  nucleoplasm  nuclear euchromatin  cytoplasm  DNA repair  DNA recombination  chromatin remodeling  transcription, DNA-templated  protein folding  membrane  nuclear matrix  ATPase activity  intracellular ribonucleoprotein complex  Ino80 complex  chromatin DNA binding  DNA duplex unwinding  cellular response to UV  positive regulation of histone acetylation  NuA4 histone acetyltransferase complex  regulation of growth  identical protein binding  identical protein binding  protein homodimerization activity  ATP-dependent 5'-3' DNA helicase activity  ADP binding  histone H4 acetylation  histone H2A acetylation  positive regulation of transcription from RNA polymerase II promoter  unfolded protein binding  ATPase binding  extracellular exosome  establishment of protein localization to chromatin  MLL1 complex  cellular response to estradiol stimulus  transcriptional activation by promoter-enhancer looping  negative regulation of estrogen receptor binding  R2TP complex  positive regulation of telomerase RNA localization to Cajal body  
REACTOMEQ9Y230 [protein]
REACTOME PathwaysR-HSA-3214847 [pathway]
NDEx NetworkRUVBL2
Atlas of Cancer Signalling NetworkRUVBL2
Wikipedia pathwaysRUVBL2
Orthology - Evolution
OrthoDB10856
GeneTree (enSembl)ENSG00000183207
Phylogenetic Trees/Animal Genes : TreeFamRUVBL2
HOVERGENQ9Y230
HOGENOMQ9Y230
Homologs : HomoloGeneRUVBL2
Homology/Alignments : Family Browser (UCSC)RUVBL2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRUVBL2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RUVBL2
dbVarRUVBL2
ClinVarRUVBL2
1000_GenomesRUVBL2 
Exome Variant ServerRUVBL2
ExAC (Exome Aggregation Consortium)RUVBL2 (select the gene name)
Genetic variants : HAPMAP10856
Genomic Variants (DGV)RUVBL2 [DGVbeta]
DECIPHER (Syndromes)19:49496705-49519252  ENSG00000183207
CONAN: Copy Number AnalysisRUVBL2 
Mutations
ICGC Data PortalRUVBL2 
TCGA Data PortalRUVBL2 
Broad Tumor PortalRUVBL2
OASIS PortalRUVBL2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRUVBL2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRUVBL2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch RUVBL2
DgiDB (Drug Gene Interaction Database)RUVBL2
DoCM (Curated mutations)RUVBL2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RUVBL2 (select a term)
intoGenRUVBL2
NCG5 (London)RUVBL2
Cancer3DRUVBL2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604788   
Orphanet
MedgenRUVBL2
Genetic Testing Registry RUVBL2
NextProtQ9Y230 [Medical]
TSGene10856
GENETestsRUVBL2
Huge Navigator RUVBL2 [HugePedia]
snp3D : Map Gene to Disease10856
BioCentury BCIQRUVBL2
ClinGenRUVBL2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10856
Chemical/Pharm GKB GenePA34888
Clinical trialRUVBL2
Miscellaneous
canSAR (ICR)RUVBL2 (select the gene name)
Probes
Litterature
PubMed184 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRUVBL2
EVEXRUVBL2
GoPubMedRUVBL2
iHOPRUVBL2
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Jan 21 16:45:18 CET 2017

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