Genomes and Genes
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
- 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...
- 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...
- 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...
- 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. ..
- 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
- 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 publisherb>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...
- 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. ..
- 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
- 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...
- 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...
- 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 ..
- 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...