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Aliases for EME1 Gene

Aliases for EME1 Gene

  • Essential Meiotic Structure-Specific Endonuclease 1 2 3 5
  • MMS4 Homolog 3 4
  • HMMS4 3 4
  • SLX2 Structure-Specific Endonuclease Subunit Homolog A (S. Cerevisiae) 2
  • SLX2 Structure-Specific Endonuclease Subunit Homolog A 3
  • Essential Meiotic Endonuclease 1 Homolog 1 (S. Pombe) 2
  • Essential Meiotic Endonuclease 1 Homolog 1 3
  • Essential Meiotic Endonuclease 1 Homolog 2 3
  • Crossover Junction Endonuclease EME1 3
  • Homolog Of Yeast EME1 Endonuclease 3
  • EC 3.1.22.- 4
  • EC 3.1.22 61
  • MMS4L 3
  • SLX2A 3
  • MMS4 4

External Ids for EME1 Gene

Previous GeneCards Identifiers for EME1 Gene

  • GC17P048925
  • GC17P045806
  • GC17P048450
  • GC17P043818

Summaries for EME1 Gene

Entrez Gene Summary for EME1 Gene

  • 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]

GeneCards Summary for EME1 Gene

EME1 (Essential Meiotic Structure-Specific Endonuclease 1) is a Protein Coding gene. Diseases associated with EME1 include Xeroderma Pigmentosum, Group F. Among its related pathways are DNA Double-Strand Break Repair and Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA). GO annotations related to this gene include endonuclease activity and nuclease activity. An important paralog of this gene is EME2.

UniProtKB/Swiss-Prot for EME1 Gene

  • Interacts with MUS81 to form a DNA structure-specific endonuclease with substrate preference for branched DNA structures with a 5-end at the branch nick. Typical substrates include 3-flap structures, replication forks and nicked Holliday junctions. May be required in mitosis for the processing of stalled or collapsed replication forks.

Gene Wiki entry for EME1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EME1 Gene

Genomics for EME1 Gene

Regulatory Elements for EME1 Gene

Enhancers for EME1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G050371 1.2 ENCODE 8 -0.6 -602 2.7 MLX CREB3L1 ZFP64 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 CACNA1G-AS1 KAT7 ENSG00000262837 MRPL27 XYLT2 NXPH3 EME1 GC17M050368 PIR36688
GH17G050395 1.2 ENCODE 7.4 +23.6 23591 2.7 MLX CREB3L1 DMAP1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 SSRP1 ENSG00000262837 CACNA1G-AS1 FLJ45513 FAM117A COL1A1 XYLT2 NXPH3 EME1 ANKRD40 ENSG00000253102
GH17G050278 1.3 Ensembl ENCODE dbSUPER 4.5 -93.0 -92983 3.6 KLF1 CEBPG BMI1 FEZF1 ZIC2 ZNF664 ZFHX2 SCRT2 HNF4G FOS TMEM92 EME1 TMEM92-AS1
GH17G050339 0.4 dbSUPER 11.5 -33.8 -33777 0.6 PRDM6 RNF2 MRPL27 EME1 COL1A1 ACSF2 CHAD HILS1 ENSG00000253730 SGCA XYLT2 TMEM92-AS1
GH17G050340 0.4 dbSUPER 11.3 -33.0 -33020 0.8 ZNF121 PRDM6 EME1 MRPL27 XYLT2 HILS1 ENSG00000253730 SGCA TMEM92-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EME1 on UCSC Golden Path with GeneCards custom track

Promoters for EME1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000095657 -120 1401 MLX CREB3L1 ZFP64 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263

Genomic Location for EME1 Gene

Chromosome:
17
Start:
50,373,220 bp from pter
End:
50,381,752 bp from pter
Size:
8,533 bases
Orientation:
Plus strand

Genomic View for EME1 Gene

Genes around EME1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EME1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EME1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EME1 Gene

Proteins for EME1 Gene

  • Protein details for EME1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96AY2-EME1_HUMAN
    Recommended name:
    Crossover junction endonuclease EME1
    Protein Accession:
    Q96AY2
    Secondary Accessions:
    • Q96N62

    Protein attributes for EME1 Gene

    Size:
    570 amino acids
    Molecular mass:
    63252 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • May self-associate. Interacts with MUS81.

    Three dimensional structures from OCA and Proteopedia for EME1 Gene

    Alternative splice isoforms for EME1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EME1 Gene

Selected DME Specific Peptides for EME1 Gene

Q96AY2:
  • WRRQIQQLNRVS
  • AYPSPQLL

Post-translational modifications for EME1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for EME1 Gene

Protein Domains for EME1 Gene

Suggested Antigen Peptide Sequences for EME1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96AY2

UniProtKB/Swiss-Prot:

EME1_HUMAN :
  • Belongs to the EME1/MMS4 family.
Family:
  • Belongs to the EME1/MMS4 family.
genes like me logo Genes that share domains with EME1: view

No data available for Gene Families for EME1 Gene

Function for EME1 Gene

Molecular function for EME1 Gene

UniProtKB/Swiss-Prot Function:
Interacts with MUS81 to form a DNA structure-specific endonuclease with substrate preference for branched DNA structures with a 5-end at the branch nick. Typical substrates include 3-flap structures, replication forks and nicked Holliday junctions. May be required in mitosis for the processing of stalled or collapsed replication forks.

Enzyme Numbers (IUBMB) for EME1 Gene

Gene Ontology (GO) - Molecular Function for EME1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0004518 nuclease activity IEA --
GO:0004519 endonuclease activity IEA --
GO:0004520 endodeoxyribonuclease activity TAS --
GO:0005515 protein binding IPI 12686547
genes like me logo Genes that share ontologies with EME1: view
genes like me logo Genes that share phenotypes with EME1: view

Animal Models for EME1 Gene

MGI Knock Outs for EME1:
  • Eme1 tm1.1(KOMP)Wtsi

Animal Model Products

CRISPR Products

miRNA for EME1 Gene

miRTarBase miRNAs that target EME1

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EME1 Gene

Localization for EME1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EME1 Gene

Nucleus, nucleolus. Note=Recruited to regions of DNA damage in S-phase cells.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EME1 gene
Compartment Confidence
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for EME1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IEA,IBA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005720 nuclear heterochromatin IEA --
GO:0005730 nucleolus IEA --
genes like me logo Genes that share ontologies with EME1: view

Pathways & Interactions for EME1 Gene

genes like me logo Genes that share pathways with EME1: view

Gene Ontology (GO) - Biological Process for EME1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000712 resolution of meiotic recombination intermediates IBA --
GO:0006281 DNA repair IEA --
GO:0006302 double-strand break repair IBA --
GO:0006310 DNA recombination IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
genes like me logo Genes that share ontologies with EME1: view

No data available for SIGNOR curated interactions for EME1 Gene

Drugs & Compounds for EME1 Gene

(1) Drugs for EME1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Nutra 0
genes like me logo Genes that share compounds with EME1: view

Transcripts for EME1 Gene

Unigene Clusters for EME1 Gene

Essential meiotic endonuclease 1 homolog 1 (S. pombe):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for EME1 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10
SP1: -
SP2: -
SP3:
SP4: -
SP5: - - -
SP6:

Relevant External Links for EME1 Gene

GeneLoc Exon Structure for
EME1
ECgene alternative splicing isoforms for
EME1

Expression for EME1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EME1 Gene

mRNA differential expression in normal tissues according to GTEx for EME1 Gene

This gene is overexpressed in Testis (x9.2).

Protein differential expression in normal tissues from HIPED for EME1 Gene

This gene is overexpressed in Lung (50.5) and Pancreatic juice (18.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EME1 Gene



Protein tissue co-expression partners for EME1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EME1 Gene:

EME1

SOURCE GeneReport for Unigene cluster for EME1 Gene:

Hs.514330
genes like me logo Genes that share expression patterns with EME1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for EME1 Gene

Orthologs for EME1 Gene

This gene was present in the common ancestor of animals.

Orthologs for EME1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EME1 34 35
  • 98.95 (n)
dog
(Canis familiaris)
Mammalia EME1 34 35
  • 82.92 (n)
rat
(Rattus norvegicus)
Mammalia Eme1 34
  • 79.43 (n)
mouse
(Mus musculus)
Mammalia Eme1 34 16 35
  • 77.9 (n)
cow
(Bos Taurus)
Mammalia EME1 35
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EME1 35
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EME1 35
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves EME1 34 35
  • 58.38 (n)
lizard
(Anolis carolinensis)
Reptilia EME1 35
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eme1 34
  • 59.29 (n)
Str.7010 34
zebrafish
(Danio rerio)
Actinopterygii eme1 34 35
  • 52.83 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002302 34
  • 42.79 (n)
fruit fly
(Drosophila melanogaster)
Insecta mms4 34 35
  • 41.19 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
OneToMany
Species where no ortholog for EME1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EME1 Gene

ENSEMBL:
Gene Tree for EME1 (if available)
TreeFam:
Gene Tree for EME1 (if available)

Paralogs for EME1 Gene

Paralogs for EME1 Gene

genes like me logo Genes that share paralogs with EME1: view

Variants for EME1 Gene

Sequence variations from dbSNP and Humsavar for EME1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000181009 -- 50,381,075(+) TCTTA(-/T)TATTT intron-variant, nc-transcript-variant, utr-variant-3-prime
rs1000212586 -- 50,374,678(+) GAAAA(C/T)GCATC intron-variant, upstream-variant-2KB
rs1000622582 -- 50,374,854(+) AAAAA(-/AAG)AAGAA intron-variant, upstream-variant-2KB
rs1000657417 -- 50,381,304(+) GTCGT(C/G)AGTGA nc-transcript-variant, utr-variant-3-prime
rs1001835083 -- 50,374,427(+) AGAGA(C/T)GAGTT intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for EME1 Gene

Variant ID Type Subtype PubMed ID
nsv833475 CNV loss 17160897
nsv833476 CNV loss 17160897

Variation tolerance for EME1 Gene

Residual Variation Intolerance Score: 96.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.27; 97.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EME1 Gene

Human Gene Mutation Database (HGMD)
EME1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EME1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EME1 Gene

Disorders for EME1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EME1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
xeroderma pigmentosum, group f
  • xeroderma pigmentosum, type f/cockayne syndrome
- elite association - COSMIC cancer census association via MalaCards
Search EME1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for EME1

Genetic Association Database (GAD)
EME1
Human Genome Epidemiology (HuGE) Navigator
EME1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EME1
genes like me logo Genes that share disorders with EME1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EME1 Gene

Publications for EME1 Gene

  1. Identification and characterization of the human mus81-eme1 endonuclease. (PMID: 12721304) Ciccia A. … West S.C. (J. Biol. Chem. 2003) 2 3 4 22 64
  2. RNA interference inhibition of Mus81 reduces mitotic recombination in human cells. (PMID: 14617801) Blais V. … McGowan C.H. (Mol. Biol. Cell 2004) 3 4 22 64
  3. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PMID: 20522537) Briggs F.B. … Barcellos L.F. (Am. J. Epidemiol. 2010) 3 46 64
  4. Gamma-radiation sensitivity and polymorphisms in RAD51L1 modulate glioma risk. (PMID: 20610542) Liu Y. … Bondy M.L. (Carcinogenesis 2010) 3 46 64
  5. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C. … Hunter D.J. (Hum. Genet. 2010) 3 46 64

Products for EME1 Gene

Sources for EME1 Gene

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