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RUVBL1 (RuvB-like 1 (E. coli))

Written2009-03Valérie Haurie, Aude Grigoletto, 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 1
RuvB-like 1 (E. coli)
RuvB-like AAA ATPase
RuvB-like AAA ATPase 1
Alias_symbol (synonym)TIP49
NMP238
RVB1
TIP49a
Pontin52
ECP54
TIH1
Rvb1
INO80H
Other aliasPONTIN
TAP54-alpha
TIP49A
HGNC (Hugo) RUVBL1
LocusID (NCBI) 8607
Atlas_Id 44415
Location 3q21.3  [Link to chromosome band 3q21]
Location_base_pair Starts at 128080827 and ends at 128123887 bp from pter ( according to hg19-Feb_2009)  [Mapping RUVBL1.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ATAD3A (1p36.33) / RUVBL1 (3q21.3)EHD1 (11q13.1) / RUVBL1 (3q21.3)EI24 (11q24.2) / RUVBL1 (3q21.3)
RUVBL1 (3q21.3) / TMCC1 (3q22.1)RUVBL1 (3q21.3) / TRIM14 (9q22.33)TXNDC11 (16p13.13) / RUVBL1 (3q21.3)

DNA/RNA

Description 11 exons spamming 42840bp, 1371bp open reading frame.
Transcription 1785bp mRNA.

Protein

 
Description 456 amino acids, 50.2 kDa.
RUVBL1 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 structure of RuvBL1 has been determined by X-ray crystallography and published in 2006 (Matias et al., 2006).
The monomers contain three domains, of which the first and the third are involved in ATP binding and hydrolysis. The second domain is a DNA/RNA-binding domain as demonstrated by structural homology and nucleic acid binding assays. RUVBL1 assembles into an hexameric structure with a central channel. Pure RUVBL1 displays a marginal ATPase activity in vitro and no detectable helicase activity (Matias et al., 2006).
RUVBL1 interacts with RUVBL2 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 RUVBL1 was reported in metastatic prostate cancer cells (Kim et al., 2007).
Expression Expression is ubiquitous but especially abundant in heart, skeletal muscle and testis (Salzer et al., 1999).
RUVBL1 is overexpressed in several tumors : liver (Li et al., 2005), colon (Carlson et al., 2003; Lauscher et al., 2007), lymphoma (Nishiu et al., 2002), non-small cell lung (Dehan et al., 2007). Overexpression of RUVBL1 in a large number of cancers and its possible role in human cancers have been reported (reviewed in Huber et al., 2008).
Localisation Cytoplasm and nucleus.
Function RUVBL1 plays roles in essential signaling pathways such as the c-Myc and beta-catenin pathways. RUVBL1 appears notably required for the transforming activity of c-myc (Wood et al., 2000), beta-catenin (Feng et al., 2003) and of the viral oncoprotein E1A (Dugan et al., 2002).
RUVBL1 participates in the remodelling of chromatin as a member of several complexes such as TRRAP, several distinct HAT complexes and BAF53 (Wood et al., 2000; Park et al., 2002; Feng et al., 2003).
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).
RUVBL1 has a mitosis-specific function in regulating microtubule assembly (Ducat et al., 2008).
RUVBL1 has been found expressed on the cell surface where it participates in the activation of plasminogen (Hawley et al., 2001).

Implicated in

Note
  
Entity Colon cancer
Disease By immunohistochemistry, RUVBL1 expression was found higher in 22 out of 26 cases where information was available (Lauscher et al., 2007). The staining was increased at the invasive margin of the tumors. Increased RUVBL1 transcripts levels were also reported in a smaller series (Carlson et al., 2003).
  
  
Entity Large B cell lymphoma
Disease Microarray analysis has identified an overexpression of RUVBL1 in Advanced lymphomas as compared with localized lymphomas (Nishiu et al., 2002).
  
  
Entity Non Small cell lung cancer
Disease Microarray analysis and subsequent RT-PCR have shown an overexpression of RUVBL1 in NSCLC (Dehan et al., 2007).
Cytogenetics There is a frequent amplification of 3q21 in the same samples (Dehan et al., 2007).
  
  
Entity Hepatocellular carcinoma
Disease Proteomic analysis found an overexpression of RUVBL1 in 4 out of 10 cases (Li et al., 2005).
  
  
Entity Autoimmune diseases
Disease Auto-antibodies to RUVBL1 were found in the serum of patients with polymyositis/dermatomyositis and autoimmune hepatitis (Makino et al., 1998).
  

Bibliography

Regulation of COX-2 transcription in a colon cancer cell line by Pontin52/TIP49a.
Carlson ML, Wilson ET, Prescott SM.
Mol Cancer. 2003 Dec 15;2:42.
PMID 14675489
 
Chromosomal aberrations and gene expression profiles in non-small cell lung cancer.
Dehan E, Ben-Dor A, Liao W, Lipson D, Frimer H, Rienstein S, Simansky D, Krupsky M, Yaron P, Friedman E, Rechavi G, Perlman M, Aviram-Goldring A, Izraeli S, Bittner M, Yakhini Z, Kaminski N.
Lung Cancer. 2007 May;56(2):175-84. Epub 2007 Jan 25.
PMID 17258348
 
Regulation of microtubule assembly and organization in mitosis by the AAA+ ATPase Pontin.
Ducat D, Kawaguchi S, Liu H, Yates JR 3rd, Zheng Y.
Mol Biol Cell. 2008 Jul;19(7):3097-110. Epub 2008 May 7.
PMID 18463163
 
TIP49, but not TRRAP, modulates c-Myc and E2F1 dependent apoptosis.
Dugan KA, Wood MA, Cole MD.
Oncogene. 2002 Aug 29;21(38):5835-43.
PMID 12185582
 
TIP49 regulates beta-catenin-mediated neoplastic transformation and T-cell factor target gene induction via effects on chromatin remodeling.
Feng Y, Lee N, Fearon ER.
Cancer Res. 2003 Dec 15;63(24):8726-34.
PMID 14695187
 
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
 
Purification, cloning, and characterization of a profibrinolytic plasminogen-binding protein, TIP49a.
Hawley SB, Tamura T, Miles LA.
J Biol Chem. 2001 Jan 5;276(1):179-86.
PMID 11027681
 
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
 
SUMOylation of pontin chromatin-remodeling complex reveals a signal integration code in prostate cancer cells.
Kim JH, Lee JM, Nam HJ, Choi HJ, Yang JW, Lee JS, Kim MH, Kim SI, Chung CH, Kim KI, Baek SH.
Proc Natl Acad Sci U S A. 2007 Dec 26;104(52):20793-8. Epub 2007 Dec 17.
PMID 18087039
 
Increased pontin expression in human colorectal cancer tissue.
Lauscher JC, Loddenkemper C, Kosel L, Grone J, Buhr HJ, Huber O.
Hum Pathol. 2007 Jul;38(7):978-85. Epub 2007 Apr 18.
PMID 17442372
 
Proteomic analysis of hepatitis B virus-associated hepatocellular carcinoma: Identification of potential tumor markers.
Li C, Tan YX, Zhou H, Ding SJ, Li SJ, Ma DJ, Man XB, Hong Y, Zhang L, Li L, Xia QC, Wu JR, Wang HY, Zeng R.
Proteomics. 2005 Mar;5(4):1125-39.
PMID 15759316
 
TIP49, homologous to the bacterial DNA helicase RuvB, acts as an autoantigen in human.
Makino Y, Mimori T, Koike C, Kanemaki M, Kurokawa Y, Inoue S, Kishimoto T, Tamura T.
Biochem Biophys Res Commun. 1998 Apr 28;245(3):819-23.
PMID 9588198
 
Crystal structure of the human AAA+ protein RuvBL1.
Matias PM, Gorynia S, Donner P, Carrondo MA.
J Biol Chem. 2006 Dec 15;281(50):38918-29. Epub 2006 Oct 23.
PMID 17060327
 
Microarray analysis of gene-expression profiles in diffuse large B-cell lymphoma: identification of genes related to disease progression.
Nishiu M, Yanagawa R, Nakatsuka S, Yao M, Tsunoda T, Nakamura Y, Aozasa K.
Jpn J Cancer Res. 2002 Aug;93(8):894-901.
PMID 12716467
 
BAF53 forms distinct nuclear complexes and functions as a critical c-Myc-interacting nuclear cofactor for oncogenic transformation.
Park J, Wood MA, Cole MD.
Mol Cell Biol. 2002 Mar;22(5):1307-16.
PMID 11839798
 
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
 
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
 
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
 
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 :
Haurie, V ; Grigoletto, A ; Rosenbaum, J. RUVBL1 (RuvB-like 1 (E
coli))
Atlas Genet Cytogenet Oncol Haematol. 2010;14(3):254-266.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/RUVBL1ID44415ch3q21.html


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  Lung: Translocations in Small Cell Carcinoma
Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)RUVBL1   10474
Cards
AtlasRUVBL1ID44415ch3q21
Entrez_Gene (NCBI)RUVBL1  8607  RuvB like AAA ATPase 1
AliasesECP-54; ECP54; INO80H; NMP; 
NMP238; PONTIN; Pontin52; RVB1; TIH1; TIP49; TIP49A
GeneCards (Weizmann)RUVBL1
Ensembl hg19 (Hinxton)ENSG00000175792 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000175792 [Gene_View]  chr3:128080827-128123887 [Contig_View]  RUVBL1 [Vega]
ICGC DataPortalENSG00000175792
TCGA cBioPortalRUVBL1
AceView (NCBI)RUVBL1
Genatlas (Paris)RUVBL1
WikiGenes8607
SOURCE (Princeton)RUVBL1
Genetics Home Reference (NIH)RUVBL1
Genomic and cartography
GoldenPath hg38 (UCSC)RUVBL1  -     chr3:128080827-128123887 -  3q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RUVBL1  -     3q21.3   [Description]    (hg19-Feb_2009)
EnsemblRUVBL1 - 3q21.3 [CytoView hg19]  RUVBL1 - 3q21.3 [CytoView hg38]
Mapping of homologs : NCBIRUVBL1 [Mapview hg19]  RUVBL1 [Mapview hg38]
OMIM603449   
Gene and transcription
Genbank (Entrez)AB012122 AB451224 AB451347 AF070735 AF099084
RefSeq transcript (Entrez)NM_001319084 NM_001319086 NM_003707
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RUVBL1
Cluster EST : UnigeneHs.710868 [ NCBI ]
CGAP (NCI)Hs.710868
Alternative Splicing GalleryENSG00000175792
Gene ExpressionRUVBL1 [ NCBI-GEO ]   RUVBL1 [ EBI - ARRAY_EXPRESS ]   RUVBL1 [ SEEK ]   RUVBL1 [ MEM ]
Gene Expression Viewer (FireBrowse)RUVBL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8607
GTEX Portal (Tissue expression)RUVBL1
Human Protein AtlasENSG00000175792-RUVBL1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y265   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y265  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y265
Splice isoforms : SwissVarQ9Y265
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 ]   
PhosPhoSitePlusQ9Y265
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)RUVBL1
DMDM Disease mutations8607
Blocks (Seattle)RUVBL1
PDB (SRS)2C9O    2XSZ   
PDB (PDBSum)2C9O    2XSZ   
PDB (IMB)2C9O    2XSZ   
PDB (RSDB)2C9O    2XSZ   
Structural Biology KnowledgeBase2C9O    2XSZ   
SCOP (Structural Classification of Proteins)2C9O    2XSZ   
CATH (Classification of proteins structures)2C9O    2XSZ   
SuperfamilyQ9Y265
Human Protein Atlas [tissue]ENSG00000175792-RUVBL1 [tissue]
Peptide AtlasQ9Y265
HPRD09143
IPIIPI00021187   IPI00788942   IPI00980222   IPI00797004   IPI00944937   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y265
IntAct (EBI)Q9Y265
FunCoupENSG00000175792
BioGRIDRUVBL1
STRING (EMBL)RUVBL1
ZODIACRUVBL1
Ontologies - Pathways
QuickGOQ9Y265
Ontology : AmiGOSwr1 complex  DNA helicase activity  protein binding  ATP binding  nucleus  nucleoplasm  nucleoplasm  microtubule organizing center  cytosol  DNA repair  DNA recombination  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  cell cycle  spermatogenesis  membrane  nuclear matrix  protein deubiquitination  ATPase activity  Ino80 complex  DNA duplex unwinding  CENP-A containing nucleosome assembly  NuA4 histone acetyltransferase complex  regulation of growth  ATP-dependent 5'-3' DNA helicase activity  histone H4 acetylation  histone H2A acetylation  cadherin binding  cell division  extracellular exosome  MLL1 complex  R2TP complex  regulation of mitophagy  positive regulation of protein targeting to mitochondrion  beta-catenin-TCF complex assembly  positive regulation of telomerase RNA localization to Cajal body  
Ontology : EGO-EBISwr1 complex  DNA helicase activity  protein binding  ATP binding  nucleus  nucleoplasm  nucleoplasm  microtubule organizing center  cytosol  DNA repair  DNA recombination  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  cell cycle  spermatogenesis  membrane  nuclear matrix  protein deubiquitination  ATPase activity  Ino80 complex  DNA duplex unwinding  CENP-A containing nucleosome assembly  NuA4 histone acetyltransferase complex  regulation of growth  ATP-dependent 5'-3' DNA helicase activity  histone H4 acetylation  histone H2A acetylation  cadherin binding  cell division  extracellular exosome  MLL1 complex  R2TP complex  regulation of mitophagy  positive regulation of protein targeting to mitochondrion  beta-catenin-TCF complex assembly  positive regulation of telomerase RNA localization to Cajal body  
Pathways : KEGGWnt signaling pathway   
REACTOMEQ9Y265 [protein]
REACTOME PathwaysR-HSA-606279 [pathway]   
NDEx NetworkRUVBL1
Atlas of Cancer Signalling NetworkRUVBL1
Wikipedia pathwaysRUVBL1
Orthology - Evolution
OrthoDB8607
GeneTree (enSembl)ENSG00000175792
Phylogenetic Trees/Animal Genes : TreeFamRUVBL1
HOVERGENQ9Y265
HOGENOMQ9Y265
Homologs : HomoloGeneRUVBL1
Homology/Alignments : Family Browser (UCSC)RUVBL1
Gene fusions - Rearrangements
Fusion : MitelmanRUVBL1/TMCC1 [3q21.3/3q22.1]  
Fusion : MitelmanTXNDC11/RUVBL1 [16p13.13/3q21.3]  [t(3;16)(q21;p13)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRUVBL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RUVBL1
dbVarRUVBL1
ClinVarRUVBL1
1000_GenomesRUVBL1 
Exome Variant ServerRUVBL1
ExAC (Exome Aggregation Consortium)ENSG00000175792
GNOMAD BrowserENSG00000175792
Genetic variants : HAPMAP8607
Genomic Variants (DGV)RUVBL1 [DGVbeta]
DECIPHERRUVBL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRUVBL1 
Mutations
ICGC Data PortalRUVBL1 
TCGA Data PortalRUVBL1 
Broad Tumor PortalRUVBL1
OASIS PortalRUVBL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRUVBL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRUVBL1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch RUVBL1
DgiDB (Drug Gene Interaction Database)RUVBL1
DoCM (Curated mutations)RUVBL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RUVBL1 (select a term)
intoGenRUVBL1
NCG5 (London)RUVBL1
Cancer3DRUVBL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603449   
Orphanet
MedgenRUVBL1
Genetic Testing Registry RUVBL1
NextProtQ9Y265 [Medical]
TSGene8607
GENETestsRUVBL1
Target ValidationRUVBL1
Huge Navigator RUVBL1 [HugePedia]
snp3D : Map Gene to Disease8607
BioCentury BCIQRUVBL1
ClinGenRUVBL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8607
Chemical/Pharm GKB GenePA34887
Clinical trialRUVBL1
Miscellaneous
canSAR (ICR)RUVBL1 (select the gene name)
Probes
Litterature
PubMed177 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRUVBL1
EVEXRUVBL1
GoPubMedRUVBL1
iHOPRUVBL1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Oct 12 16:32:56 CEST 2017

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