Gene Symbol: ATAD5
Description: ATPase family, AAA domain containing 5
Alias: C17orf41, ELG1, FRAG1, ATPase family AAA domain-containing protein 5, chromosome fragility associated gene 1, chromosome fragility-associated gene 1 protein, enhanced level of genomic instability 1 homolog
Species: human
Products:     ATAD5

Top Publications

  1. Lee K, Yang K, Cohn M, Sikdar N, D Andrea A, Myung K. Human ELG1 regulates the level of ubiquitinated proliferating cell nuclear antigen (PCNA) through Its interactions with PCNA and USP1. J Biol Chem. 2010;285:10362-9 pubmed publisher
    ..However, it remains unclear how the level of monoubiquitinated PCNA is regulated. Here, we demonstrate that human ELG1 protein, which comprises an alternative replication factor C (RFC) complex and plays an important role in ..
  2. Ishii H, Inageta T, Mimori K, Saito T, Sasaki H, Isobe M, et al. Frag1, a homolog of alternative replication factor C subunits, links replication stress surveillance with apoptosis. Proc Natl Acad Sci U S A. 2005;102:9655-60 pubmed
    We report the identification and characterization of a potent regulator of genomic integrity, mouse and human FRAG1 gene, a conserved homolog of replication factor C large subunit that is homologous to the alternative replication factor ..
  3. Sikdar N, Banerjee S, Lee K, Wincovitch S, Pak E, Nakanishi K, et al. DNA damage responses by human ELG1 in S phase are important to maintain genomic integrity. Cell Cycle. 2009;8:3199-207 pubmed
    ..We demonstrate that a human homologue of yeast Elg1 plays an important role in S phase to preserve genomic stability...
  4. Bell D, Sikdar N, Lee K, Price J, Chatterjee R, Park H, et al. Predisposition to cancer caused by genetic and functional defects of mammalian Atad5. PLoS Genet. 2011;7:e1002245 pubmed publisher
    b>ATAD5, the human ortholog of yeast Elg1, plays a role in PCNA deubiquitination. Since PCNA modification is important to regulate DNA damage bypass, ATAD5 may be important for suppression of genomic instability in mammals in vivo...
  5. Fox J, Lee K, Myung K. Dynamic regulation of PCNA ubiquitylation/deubiquitylation. FEBS Lett. 2011;585:2780-5 pubmed publisher
    ..Here, we review the molecular mechanisms to remove ubiquitin from PCNA including the emerging role of USP1 and ELG1 in this fascinating process.
  6. Yang K, Moldovan G, Vinciguerra P, Murai J, Takeda S, D Andrea A. Regulation of the Fanconi anemia pathway by a SUMO-like delivery network. Genes Dev. 2011;25:1847-58 pubmed publisher
    ..We propose that the regulated targeting of USP1/UAF1 to its DNA repair substrates, FANCD2-Ub and PCNA-Ub, by SLD-SIM interactions coordinates homologous recombination and translesion DNA synthesis. ..
  7. Zanotti K, Maul R, Castiblanco D, Yang W, Choi Y, Fox J, et al. ATAD5 deficiency decreases B cell division and Igh recombination. J Immunol. 2015;194:35-42 pubmed publisher
    Mammalian ATPase family AAA domain-containing protein 5 (ATAD5) and its yeast homolog enhanced level of genomic instability 1 are responsible for unloading proliferating cell nuclear antigen from newly synthesized DNA...
  8. Pasmant E, Masliah Planchon J, Lévy P, Laurendeau I, Ortonne N, Parfait B, et al. Identification of genes potentially involved in the increased risk of malignancy in NF1-microdeleted patients. Mol Med. 2011;17:79-87 pubmed publisher
    ..Five genes were significantly upregulated: OMG and SUZ12 in plexiform neurofibromas and ATAD5, EVI2A and C17orf79 in MPNSTs...
  9. Mioka T, Fujimura Kamada K, Mizugaki N, Kishimoto T, Sano T, Nunome H, et al. Phospholipid flippases and Sfk1p, a novel regulator of phospholipid asymmetry, contribute to low permeability of the plasma membrane. Mol Biol Cell. 2018;: pubmed publisher
    ..We isolated Sfk1p, a conserved membrane protein in the TMEM150/FRAG1/DRAM family, as a multicopy suppressor of this sensitivity...

More Information


  1. Ghosh A, Ghosh S, Dasgupta D, Ghosh A, Datta S, Sikdar N, et al. Hepatitis B Virus X Protein Upregulates hELG1/ ATAD5 Expression through E2F1 in Hepatocellular Carcinoma. Int J Biol Sci. 2016;12:30-41 pubmed publisher
    ..Here, we have investigated the role of HBx on expression of a novel gene hELG1/ATAD5, which is required for genome maintenance and its' importance in hepatocarcinogenesis...
  2. Shkedy D, Singh N, Shemesh K, Amir A, Geiger T, Liefshitz B, et al. Regulation of Elg1 activity by phosphorylation. Cell Cycle. 2015;14:3689-97 pubmed publisher
    ..Elg1 is evolutionarily conserved, and its Fanconi Anemia-related mammalian ortholog (also known as ATAD5) is embryonic lethal when lost in mice and acts as a tumor suppressor in mice and humans...
  3. Shiomi Y, Nishitani H. Alternative replication factor C protein, Elg1, maintains chromosome stability by regulating PCNA levels on chromatin. Genes Cells. 2013;18:946-59 pubmed publisher
    ..Here, we show that Elg1, an alternative replication factor C protein, is required for the regulation of chromatin-bound PCNA levels...
  4. Douglas J, Cilliers D, Coleman K, Tatton Brown K, Barker K, Bernhard B, et al. Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. Nat Genet. 2007;39:963-5 pubmed
    ..These data identify RNF135 as causative of a new overgrowth syndrome and demonstrate that RNF135 haploinsufficiency contributes to the phenotype of NF1 microdeletion cases. ..
  5. Jenne D, Tinschert S, Reimann H, Lasinger W, Thiel G, Hameister H, et al. Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions. Am J Hum Genet. 2001;69:516-27 pubmed
  6. Maleva Kostovska I, Wang J, Bogdanova N, Schürmann P, Bhuju S, Geffers R, et al. Rare ATAD5 missense variants in breast and ovarian cancer patients. Cancer Lett. 2016;376:173-7 pubmed publisher
    b>ATAD5/ELG1 is a protein crucially involved in replication and maintenance of genome stability. ATAD5 has recently been identified as a genomic risk locus for both breast and ovarian cancer through genome-wide association studies...
  7. Liang F, Longerich S, Miller A, Tang C, Buzovetsky O, Xiong Y, et al. Promotion of RAD51-Mediated Homologous DNA Pairing by the RAD51AP1-UAF1 Complex. Cell Rep. 2016;15:2118-2126 pubmed publisher
    ..Our findings provide insights into an apparently USP1-independent role of UAF1 in genome maintenance. ..
  8. Jenne D, Tinschert S, Stegmann E, Reimann H, Nurnberg P, Horn D, et al. A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions. Genomics. 2000;66:93-7 pubmed
  9. Rahman S, Sowa M, Ottinger M, Smith J, Shi Y, Harper J, et al. The Brd4 extraterminal domain confers transcription activation independent of pTEFb by recruiting multiple proteins, including NSD3. Mol Cell Biol. 2011;31:2641-52 pubmed publisher
    ..ET) domain, whose function has to date not been determined, interacts with NSD3, JMJD6, CHD4, GLTSCR1, and ATAD5. These ET-domain interactions were also conserved for Brd2 and Brd3, the other human BET proteins tested...
  10. Lee K, Fu H, Aladjem M, Myung K. ATAD5 regulates the lifespan of DNA replication factories by modulating PCNA level on the chromatin. J Cell Biol. 2013;200:31-44 pubmed publisher
    ..However, the underlying molecular mechanisms are not well understood. Here, we report that ATAD5 regulates the lifespan of replication factories...
  11. Visser R, Koelma N, Vijfhuizen L, van der Wielen M, Kant S, Breuning M, et al. RNF135 mutations are not present in patients with Sotos syndrome-like features. Am J Med Genet A. 2009;149A:806-8 pubmed publisher
  12. Gazy I, Liefshitz B, Parnas O, Kupiec M. Elg1, a central player in genome stability. Mutat Res Rev Mutat Res. 2015;763:267-79 pubmed publisher
    ..Elg1 is evolutionarily conserved, and its mammalian ortholog (also known as ATAD5) is embryonic lethal when lost in mice, acts as a tumor suppressor in mice and humans, exhibits physical ..
  13. Perez Y, Wormser O, Sadaka Y, Birk R, Narkis G, Birk O. A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers. Biomed Res Int. 2017;2017:3470234 pubmed publisher
    ..The mutation replaces a highly conserved arginine residue with glutamine within the Frag1 (FGF receptor activating) domain of PGAP2...