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 stabi... See more...

Aliases for EME1 Gene

Aliases for EME1 Gene

  • Essential Meiotic Structure-Specific Endonuclease 1 2 3 5
  • Crossover Junction Endonuclease EME1 3 4
  • MMS4 Homolog 3 4
  • MMS4L 2 3
  • SLX2A 2 3
  • 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
  • Homolog Of Yeast EME1 Endonuclease 3
  • EC 3.1.22.- 4
  • EC 3.1.22 50
  • FLJ31364 2
  • EME1 5
  • 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, Complementation Group F and Xeroderma Pigmentosum, Variant Type. Among its related pathways are DNA Double-Strand Break Repair and Resolution of D-loop Structures through Holliday Junction Intermediates. Gene Ontology (GO) annotations related to this gene include endonuclease activity and nuclease activity. An important paralog of this gene is EME2.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for EME1 Gene

Genomics for EME1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EME1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EME1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EME1

Top Transcription factor binding sites by QIAGEN in the EME1 gene promoter:
  • AP-1
  • Bach2
  • c-Fos
  • c-Myb
  • E47
  • JunD
  • LCR-F1
  • MAZR
  • N-Myc
  • Tal-1beta

Genomic Locations for EME1 Gene

Latest Assembly
chr17:50,373,220-50,381,483
(GRCh38/hg38)
Size:
8,264 bases
Orientation:
Plus strand

Previous Assembly
chr17:48,450,590-48,458,844
(GRCh37/hg19 by Entrez Gene)
Size:
8,255 bases
Orientation:
Plus strand

chr17:48,450,581-48,458,844
(GRCh37/hg19 by Ensembl)
Size:
8,264 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

Gene Families for EME1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for EME1 Gene

GenScript: Design optimal peptide antigens:
  • MMS4 homolog (EME1_HUMAN)

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

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

Phenotypes From GWAS Catalog 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:0005515 protein binding IPI 12686547
GO:0016787 hydrolase activity IEA --
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 Eme1<tm1.1(KOMP)Wtsi>

miRNA for EME1 Gene

miRTarBase miRNAs that target EME1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EME1

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
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (2)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EME1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IEA --
GO:0000792 heterochromatin IEA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
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 21873635
GO:0006281 DNA repair IEA --
GO:0006302 double-strand break repair IBA 21873635
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 Approved, Experimental, Investigational Pharma 0
genes like me logo Genes that share compounds with EME1: view

Transcripts for EME1 Gene

mRNA/cDNA for EME1 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EME1

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

Expression for EME1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for EME1 Gene



Protein tissue co-expression partners for EME1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EME1

SOURCE GeneReport for Unigene cluster for EME1 Gene:

Hs.514330

Evidence on tissue expression from TISSUES for EME1 Gene

  • Skin(2.2)
  • Intestine(2)
genes like me logo Genes that share expression patterns with EME1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt 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 29 30
  • 98.95 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia EME1 29 30
  • 82.92 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Eme1 29
  • 79.43 (n)
Mouse
(Mus musculus)
Mammalia Eme1 29 16 30
  • 77.9 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EME1 30
  • 73 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia EME1 30
  • 52 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia EME1 30
  • 40 (a)
OneToOne
Chicken
(Gallus gallus)
Aves EME1 29 30
  • 58.38 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia EME1 30
  • 44 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia eme1 29
  • 59.29 (n)
Str.7010 29
Zebrafish
(Danio rerio)
Actinopterygii eme1 29 30
  • 52.83 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002302 29
  • 42.79 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta mms4 29 30
  • 41.19 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 39 (a)
OneToMany
Species where no ortholog for EME1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for EME1: view image
Alliance of Genome Resources:
Additional Orthologs for EME1

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EME1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs35248609 Benign: not provided 50,375,223(+) G/Tp.Lys5Asn
NM_001166131.1(EME1):c.15G>T (p.Lys5Asn)
MISSENSE
rs12450550 -- p.Ile350Thr
rs17714854 -- p.Phe63Leu
rs3760413 -- p.Glu69Asp
rs7222520 -- p.Val347Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for EME1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for EME1 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for EME1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for EME1 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search EME1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EME1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 SC (The Journal of biological chemistry 2003) 2 3 4 22
  2. RNA interference inhibition of Mus81 reduces mitotic recombination in human cells. (PMID: 14617801) Blais V … McGowan CH (Molecular biology of the cell 2004) 3 4 22
  3. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 40
  4. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PMID: 20522537) Briggs FB … International Multiple Sclerosis Genetics Consortium (American journal of epidemiology 2010) 3 40
  5. Gamma-radiation sensitivity and polymorphisms in RAD51L1 modulate glioma risk. (PMID: 20610542) Liu Y … Bondy ML (Carcinogenesis 2010) 3 40

Products for EME1 Gene

Sources for EME1 Gene