EME1

EME1
Identifiers
Aliases	EME1, MMS4L, SLX2A, essential meiotic structure-specific endonuclease 1
External IDs	OMIM: 610885; MGI: 3576783; HomoloGene: 16123; GeneCards: EME1; OMA:EME1 - orthologs
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2ZIU, 2ZIV, 2ZIW, 2ZIX, 4P0P, 4P0Q, 4P0R, 4P0S
Gene location (Human) Chr. Chromosome 17 (human) Band 17q21.33 Start 50,373,220 bp End 50,381,483 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11|11 D Start 94,535,822 bp End 94,544,790 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tail of epididymis corpus epididymis tendon of biceps brachii mucosa of ileum pancreatic ductal cell oocyte endothelial cell right testis left testis secondary oocyte Top expressed in lateral part of occipital bone genital tubercle tail of embryo epiblast somite yolk sac thyroid cartilage maxillary prominence mandibular prominence sphenoid bone More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding endonuclease activity nuclease activity protein binding hydrolase activity metal ion binding endodeoxyribonuclease activity crossover junction endodeoxyribonuclease activity Cellular component nucleolus nucleoplasm nucleus Holliday junction resolvase complex Biological process cellular response to DNA damage stimulus DNA recombination interstrand cross-link repair nucleic acid phosphodiester bond hydrolysis response to intra-S DNA damage checkpoint signaling DNA repair resolution of meiotic recombination intermediates double-strand break repair replication fork processing mitotic intra-S DNA damage checkpoint signaling Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 146956 268465 Ensembl ENSG00000154920 ENSMUSG00000039055 UniProt Q96AY2 Q8BJW7 RefSeq (mRNA) NM_001166131 NM_152463 NM_177752 NM_001379688 RefSeq (protein) NP_001159603 NP_689676 NP_808420 NP_001366617 Location (UCSC) Chr 17: 50.37 – 50.38 Mb Chr 11: 94.54 – 94.54 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Crossover junction endonuclease EME1 is an enzyme that is encoded by the EME1 gene in humans. It forms a complex with MUS81 which resolves Holliday junctions. In mammalian cells the EME1/MUS81 protein complex is redundant for DNA damage repair with GEN1 endonuclease. In mice, EME1/MUS81 and GEN1 redundantly contribute to Holliday junction processing. When homozygous mutations of Gen1 and Eme1 were combined in mice the result was synthetic lethality at an early embryonic stage. Homozygosity for Gen1 mutations did not cause a DNA repair deficiency in mice. But when mice were both homozygous mutant for Gen1 and also heterozygous for an Emc1 mutation, they showed increased sensitivity to DNA damaging agents. This finding, indicated a redundant role of GEN1 and EME1 in DNA repair. Gen1 and Emc1 were also shown to have redundant roles in meiotic recombination.

Further reading

• Oğrünç M, Sancar A (June 2003). "Identification and characterization of human MUS81-MMS4 structure-specific endonuclease". The Journal of Biological Chemistry. 278 (24): 21715–21720. doi:10.1074/jbc.M302484200. PMID 12686547.
• Abraham J, Lemmers B, Hande MP, Moynahan ME, Chahwan C, Ciccia A, et al. (November 2003). "Eme1 is involved in DNA damage processing and maintenance of genomic stability in mammalian cells". The EMBO Journal. 22 (22): 6137–6147. doi:10.1093/emboj/cdg580. PMC 275438. PMID 14609959.
• Blais V, Gao H, Elwell CA, Boddy MN, Gaillard PH, Russell P, McGowan CH (February 2004). "RNA interference inhibition of Mus81 reduces mitotic recombination in human cells". Molecular Biology of the Cell. 15 (2): 552–562. doi:10.1091/mbc.E03-08-0580. PMC 329235. PMID 14617801.
• Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, et al. (August 2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proceedings of the National Academy of Sciences of the United States of America. 101 (33): 12130–12135. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
• Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, et al. (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–1178. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
• Hiyama T, Katsura M, Yoshihara T, Ishida M, Kinomura A, Tonda T, et al. (2006). "Haploinsufficiency of the Mus81-Eme1 endonuclease activates the intra-S-phase and G2/M checkpoints and promotes rereplication in human cells". Nucleic Acids Research. 34 (3): 880–892. doi:10.1093/nar/gkj495. PMC 1360746. PMID 16456034.
• Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (November 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–648. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.