Written | 2009-03 | Valérie Haurie, Aude Grigoletto, Jean Rosenbaum |
INSERM U889, Universite Victor Segalen Bordeaux 2, 146 rue Leo Saignat, 33076 Bordeaux, France |
Identity |
Alias (NCBI) | ECP54 | INO80H | NMP238 | PONTIN | Pontin52 | RVB1 | TAP54-alpha | TIH1 | TIP49 | TIP49A |
HGNC (Hugo) | RUVBL1 |
HGNC Alias symb | TIP49 | NMP238 | RVB1 | TIP49a | Pontin52 | ECP54 | TIH1 | Rvb1 | INO80H |
HGNC Alias name | pontin | INO80 complex subunit H |
HGNC Previous name | RuvB (E coli homolog)-like 1 | RuvB-like 1 (E. coli) | RuvB-like AAA ATPase | RuvB-like AAA ATPase 1 |
LocusID (NCBI) | 8607 |
Atlas_Id | 44415 |
Location | 3q21.3 [Link to chromosome band 3q21] |
Location_base_pair | Starts at 128080810 and ends at 128123812 bp from pter ( according to GRCh38/hg38-Dec_2013) [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 |
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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 ] |
Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ] |
Lung: Translocations in Small Cell Carcinoma
Lung: Translocations in Squamous Cell Carcinoma t(3;3)(q21;q22) RUVBL1/TMCC1 t(3;16)(q21;p13) TXNDC11/RUVBL1 |
External links |
REVIEW articles | automatic search in PubMed |
Last year publications | automatic search in PubMed |
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