EME1 (essential meiotic structure-specific endonuclease 1)

2006-10-01  

Identity

HGNC
LOCATION
17q21.33
LOCUSID
ALIAS
MMS4L,SLX2A
FUSION GENES

Other Information

Locus ID:

NCBI: 146956
MIM: 610885
HGNC: 24965
Ensembl: ENSG00000154920

Variants:

dbSNP: 146956
ClinVar: 146956
TCGA: ENSG00000154920
COSMIC: EME1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000154920ENST00000338165Q96AY2
ENSG00000154920ENST00000393271Q96AY2
ENSG00000154920ENST00000510246H0Y9Z4
ENSG00000154920ENST00000511519F8W714
ENSG00000154920ENST00000511648Q96AY2
ENSG00000154920ENST00000511711D6RIT8

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Homologous recombinationKEGGko03440
Homologous recombinationKEGGhsa03440
Fanconi anemia pathwayKEGGko03460
Fanconi anemia pathwayKEGGhsa03460
DNA RepairREACTOMER-HSA-73894
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
Homology Directed RepairREACTOMER-HSA-5693538
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)REACTOMER-HSA-5693567
HDR through Homologous Recombination (HRR)REACTOMER-HSA-5685942
Resolution of D-Loop StructuresREACTOMER-HSA-5693537
Resolution of D-loop Structures through Holliday Junction IntermediatesREACTOMER-HSA-5693568
Fanconi Anemia PathwayREACTOMER-HSA-6783310

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
240762212013Coordinated actions of SLX1-SLX4 and MUS81-EME1 for Holliday junction resolution in human cells.104
218598612011Wee1 controls genomic stability during replication by regulating the Mus81-Eme1 endonuclease.66
218581512011Structure-specific DNA endonuclease Mus81/Eme1 generates DNA damage caused by Chk1 inactivation.50
185595512008Pathway analysis of single-nucleotide polymorphisms potentially associated with glioblastoma multiforme susceptibility using random forests.44
183103222008Cleavage mechanism of human Mus81-Eme1 acting on Holliday-junction structures.39
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
164560342006Haploinsufficiency of the Mus81-Eme1 endonuclease activates the intra-S-phase and G2/M checkpoints and promotes rereplication in human cells.28
184137192008Crystal structure of the Mus81-Eme1 complex.27
190178092008Human Rad54 protein stimulates human Mus81-Eme1 endonuclease.18
273542822016SLX4-SLX1 Protein-independent Down-regulation of MUS81-EME1 Protein by HIV-1 Viral Protein R (Vpr).17

Citation

Dessen P

EME1 (essential meiotic structure-specific endonuclease 1)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43242/eme1