EME1

EME1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2ZIU, 2ZIV, 2ZIW, 2ZIX, 4P0P, 4P0Q, 4P0R, 4P0S
Identifiers
Aliases	EME1, MMS4L, SLX2A, essential meiotic structure-specific endonuclease 1
External IDs	OMIM: 610885; MGI: 3576783; HomoloGene: 16123; GeneCards: EME1; OMA:EME1 - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q21.33 Start 50,373,220 bp[1] End 50,381,483 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 D Start 94,535,822 bp[2] End 94,544,790 bp[2]
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 [3] [4]
Wikidata
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Crossover junction endonuclease EME1 is an enzyme that in humans is encoded by the EME1 gene.^[5][6] 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.^[7] 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.^[7] Homozygosity for Gen1 mutations did not cause a DNA repair deficiency in mice. But when mice were both homozygous mutant for Gen1 and also heterozyous 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.^[7]

References

Further reading