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EME1

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Protein-coding gene in the species Homo sapiens
EME1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2ZIU, 2ZIV, 2ZIW, 2ZIX, 4P0P, 4P0Q, 4P0R, 4P0S

Identifiers
AliasesEME1, MMS4L, SLX2A, essential meiotic structure-specific endonuclease 1
External IDsOMIM: 610885; MGI: 3576783; HomoloGene: 16123; GeneCards: EME1; OMA:EME1 - orthologs
Gene location (Human)
Chromosome 17 (human)
Chr.Chromosome 17 (human)
Chromosome 17 (human)Genomic location for EME1Genomic location for EME1
Band17q21.33Start50,373,220 bp
End50,381,483 bp
Gene location (Mouse)
Chromosome 11 (mouse)
Chr.Chromosome 11 (mouse)
Chromosome 11 (mouse)Genomic location for EME1Genomic location for EME1
Band11|11 DStart94,535,822 bp
End94,544,790 bp
RNA expression pattern
Bgee
HumanMouse (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
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
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 MbChr 11: 94.54 – 94.54 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Crossover junction endonuclease EME1 is an enzyme that in humans is encoded by the EME1 gene. 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 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.

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000154920Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000039055Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Ciccia A, Constantinou A, West SC (July 2003). "Identification and characterization of the human mus81-eme1 endonuclease". The Journal of Biological Chemistry. 278 (27): 25172–25178. doi:10.1074/jbc.M302882200. PMID 12721304.
  6. "Entrez Gene: EME1 essential meiotic endonuclease 1 homolog 1 (S. pombe)".
  7. ^ Wang X, Wang H, Guo B, Zhang Y, Gong Y, Zhang C, et al. (October 2016). "Gen1 and Eme1 Play Redundant Roles in DNA Repair and Meiotic Recombination in Mice". DNA and Cell Biology. 35 (10): 585–590. doi:10.1089/dna.2015.3022. PMC 6445196. PMID 27383418.

Further reading


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