essential meiotic structure-specific endonuclease 1 | OKDB#: 5032 |
Symbols: | EME1 | Species: | human | ||
Synonyms: | MMS4L, SLX2A, | Locus: | 17q21.33 in Homo sapiens |
For retrieval of Nucleotide and Amino Acid sequences please go to:
OMIM
Entrez Gene
Mammalian Reproductive Genetics Endometrium Database Resource Orthologous Genes UCSC Genome Browser GEO Profiles new! Amazonia (transcriptome data) new! R-L INTERACTIONS MGI |
General Comment | NCBI Summary: This gene encodes a protein that complexes with methyl methanesulfonate-sensitive UV-sensitive 81 protein to form an endonuclease complex. The encoded protein interacts with specifc DNA structures including nicked Holliday junctions, 3'-flap structures and aberrant replication fork structures. This protein may be involved in repairing DNA damage and in maintaining genomic stability. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009] | ||||
General function | Chromosome organization | ||||
Comment | |||||
Cellular localization | Nuclear | ||||
Comment | |||||
Ovarian function | |||||
Comment | |||||
Expression regulated by | |||||
Comment | |||||
Ovarian localization | Oocyte | ||||
Comment | SLX2 interacting with BLOS2 is differentially expressed during mouse oocyte meiotic maturation. Zhuang XJ 2014 et al. Gametogenesis is a complex biological process of producing cells for sexual reproduction. Xlr super family members containing a conserved COR1 domain play essential roles in gametogenesis. In the present study, we identified that Slx2, a novel member of Xlr super family, is specifically expressed in the meiotic oocytes, which is demonstrated by western blotting and immunohistochemistry studies. In the first meiotic prophase, Slx2 is unevenly distributed in the nuclei of oocytes, during which phase Slx2 is partly co-localized with SYCP3 in synaptonemal complex and ?H2AX in the nucleus of oocytes. Interestingly, the localization of Slx2 was found to be switched into the cytoplasm of oocytes after prometaphase I during oocyte maturation. Furthermore, yeast 2-hybrid and coimmunoprecipitation studies demonstrated that Slx2 interacts with BLOS2 which is a novel centrosome-associated protein and co-localized with ?-tubulin, which is a protein marker of chromosome segregation in meiosis. These results indicated that SLX2 might get involved in chromosomes segregation during meiosis by interaction with BLOS2. In conclusion, Slx2 might be a novel gametogenesis-related protein that could play multiple roles in regulation of meiotic processes including synaptonemal complex assembly and chromosome segregation. ///////////////////////// | ||||
Follicle stages | |||||
Comment | |||||
Phenotypes | |||||
Mutations | 0 mutations | ||||
Genomic Region | show genomic region | ||||
Phenotypes and GWAS | show phenotypes and GWAS | ||||
Links |
|
created: | June 4, 2014, 1:35 p.m. | by: |
hsueh email:
home page: |
last update: | June 4, 2014, 1:38 p.m. | by: | hsueh email: |
Click here to return to gene search form