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

2009-03-01   Valérie Haurie , Aude Grigoletto , Jean Rosenbaum 

INSERM U889, Universite Victor Segalen Bordeaux 2, 146 rue Leo Saignat, 33076 Bordeaux, France





11 exons spamming 42840bp, 1371bp open reading frame.


1785bp mRNA.


Atlas Image


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 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).


Cytoplasm and nucleus.


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

Entity name
Colon cancer
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).
Microarray analysis has identified an overexpression of RUVBL1 in Advanced lymphomas as compared with localized lymphomas (Nishiu et al., 2002).
Entity name
Non Small cell lung cancer
Microarray analysis and subsequent RT-PCR have shown an overexpression of RUVBL1 in NSCLC (Dehan et al., 2007).
There is a frequent amplification of 3q21 in the same samples (Dehan et al., 2007).
Entity name
Hepatocellular carcinoma
Proteomic analysis found an overexpression of RUVBL1 in 4 out of 10 cases (Li et al., 2005).
Entity name
Autoimmune diseases
Auto-antibodies to RUVBL1 were found in the serum of patients with polymyositis/dermatomyositis and autoimmune hepatitis (Makino et al., 1998).


Pubmed IDLast YearTitleAuthors
146754892003Regulation of COX-2 transcription in a colon cancer cell line by Pontin52/TIP49a.Carlson ML et al
172583482007Chromosomal aberrations and gene expression profiles in non-small cell lung cancer.Dehan E et al
184631632008Regulation of microtubule assembly and organization in mitosis by the AAA+ ATPase Pontin.Ducat D et al
121855822002TIP49, but not TRRAP, modulates c-Myc and E2F1 dependent apoptosis.Dugan KA et al
146951872003TIP49 regulates beta-catenin-mediated neoplastic transformation and T-cell factor target gene induction via effects on chromatin remodeling.Feng Y et al
173203972007Control of transcription by Pontin and Reptin.Gallant P et al
188349512009RAD51 foci formation in response to DNA damage is modulated by TIP49.Gospodinov A et al
110276812001Purification, cloning, and characterization of a profibrinolytic plasminogen-binding protein, TIP49a.Hawley SB et al
187573982008Pontin and reptin, two related ATPases with multiple roles in cancer.Huber O et al
180870392007SUMOylation of pontin chromatin-remodeling complex reveals a signal integration code in prostate cancer cells.Kim JH et al
174423722007Increased pontin expression in human colorectal cancer tissue.Lauscher JC et al
157593162005Proteomic analysis of hepatitis B virus-associated hepatocellular carcinoma: Identification of potential tumor markers.Li C et al
95881981998TIP49, homologous to the bacterial DNA helicase RuvB, acts as an autoantigen in human.Makino Y et al
170603272006Crystal structure of the human AAA+ protein RuvBL1.Matias PM et al
127164672002Microarray analysis of gene-expression profiles in diffuse large B-cell lymphoma: identification of genes related to disease progression.Nishiu M et al
118397982002BAF53 forms distinct nuclear complexes and functions as a critical c-Myc-interacting nuclear cofactor for oncogenic transformation.Park J et al
171578682007Dodecameric structure and ATPase activity of the human TIP48/TIP49 complex.Puri T et al
105242111999Isolation, molecular characterization, and tissue-specific expression of ECP-51 and ECP-54 (TIP49), two homologous, interacting erythroid cytosolic proteins.Salzer U et al
183588082008Identification of ATPases pontin and reptin as telomerase components essential for holoenzyme assembly.Venteicher AS et al
124177352002Conserved 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 et al
108820732000An ATPase/helicase complex is an essential cofactor for oncogenic transformation by c-Myc.Wood MA et al

Other Information

Locus ID:

NCBI: 8607
MIM: 603449
HGNC: 10474
Ensembl: ENSG00000175792


dbSNP: 8607
ClinVar: 8607
TCGA: ENSG00000175792


Gene IDTranscript IDUniprot

Expression (GTEx)



PathwaySourceExternal ID
Wnt signaling pathwayKEGGko04310
Wnt signaling pathwayKEGGhsa04310
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Signal TransductionREACTOMER-HSA-162582
Signaling by WntREACTOMER-HSA-195721
TCF dependent signaling in response to WNTREACTOMER-HSA-201681
Formation of the beta-catenin:TCF transactivating complexREACTOMER-HSA-201722
Cell CycleREACTOMER-HSA-1640170
Chromosome MaintenanceREACTOMER-HSA-73886
Nucleosome assemblyREACTOMER-HSA-774815
Deposition of new CENPA-containing nucleosomes at the centromereREACTOMER-HSA-606279
Telomere MaintenanceREACTOMER-HSA-157579
Extension of TelomeresREACTOMER-HSA-180786
Telomere Extension By TelomeraseREACTOMER-HSA-171319
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
HATs acetylate histonesREACTOMER-HSA-3214847
Nucleotide Excision RepairREACTOMER-HSA-5696398
Global Genome Nucleotide Excision Repair (GG-NER)REACTOMER-HSA-5696399
DNA Damage Recognition in GG-NERREACTOMER-HSA-5696394
UCH proteinasesREACTOMER-HSA-5689603
Ub-specific processing proteasesREACTOMER-HSA-5689880

Protein levels (Protein atlas)

Not detected


Pubmed IDYearTitleCitations
183588082008Identification of ATPases pontin and reptin as telomerase components essential for holoenzyme assembly.115
162303502005A mammalian chromatin remodeling complex with similarities to the yeast INO80 complex.93
195245332009RVB1/RVB2: running rings around molecular biology.76
182854602008Human Rvb1/Tip49 is required for the histone acetyltransferase activity of Tip60/NuA4 and for the downregulation of phosphorylation on H2AX after DNA damage.66
170603272006Crystal structure of the human AAA+ protein RuvBL1.61
203717702010AAA+ proteins RUVBL1 and RUVBL2 coordinate PIKK activity and function in nonsense-mediated mRNA decay.51
218251552011Hypoxia-induced methylation of a pontin chromatin remodeling factor.43
194506872009High-resolution mapping of the protein interaction network for the human transcription machinery and affinity purification of RNA polymerase II-associated complexes.42
219337162011Structural and functional insights into a dodecameric molecular machine - the RuvBL1/RuvBL2 complex.38
171578682007Dodecameric structure and ATPase activity of the human TIP48/TIP49 complex.34


Valérie Haurie ; Aude Grigoletto ; Jean Rosenbaum

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

Atlas Genet Cytogenet Oncol Haematol. 2009-03-01

Online version: