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    EME1 essential meiotic structure-specific endonuclease 1 [ Homo sapiens (human) ]

    Gene ID: 146956, updated on 30-Oct-2024

    Summary

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    Official Symbol
    EME1provided by HGNC
    Official Full Name
    essential meiotic structure-specific endonuclease 1provided by HGNC
    Primary source
    HGNC:HGNC:24965
    See related
    Ensembl:ENSG00000154920 MIM:610885; AllianceGenome:HGNC:24965
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MMS4L; SLX2A
    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]
    Expression
    Broad expression in testis (RPKM 5.3), bone marrow (RPKM 3.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EME1 in Genome Data Viewer
    Location:
    17q21.33
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (50373229..50381483)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (51240214..51248468)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (48450590..48458844)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8695 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8696 Neighboring gene Sharpr-MPRA regulatory region 10047 Neighboring gene xylosyltransferase 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:48448134-48448295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12382 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12383 Neighboring gene mitochondrial ribosomal protein L27 Neighboring gene leucine rich repeat containing 59 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8697 Neighboring gene Sharpr-MPRA regulatory region 13074 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48503111-48503655 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:48508611-48509306 Neighboring gene acyl-CoA synthetase family member 2 Neighboring gene mitochondrial ribosomal protein S21 pseudogene 9 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48545198-48546156 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48546157-48547114 Neighboring gene chondroadherin

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Functional evidence for Eme1 as a marker of cisplatin resistance. Tomoda Y, et al. Int J Cancer, 2009 Jun 15. PMID 19267403
    2. Identification and characterization of human MUS81-MMS4 structure-specific endonuclease. Oğrünç M, et al. J Biol Chem, 2003 Jun 13. PMID 12686547
    3. RNA interference inhibition of Mus81 reduces mitotic recombination in human cells. Blais V, et al. Mol Biol Cell, 2004 Feb. PMID 14617801, Free PMC Article
    4. Mus81-Eme1-dependent aberrant processing of DNA replication intermediates in mitosis impairs genome integrity. Calzetta NL, et al. Sci Adv, 2020 Dec. PMID 33298441, Free PMC Article
    5. Haploinsufficiency of the Mus81-Eme1 endonuclease activates the intra-S-phase and G2/M checkpoints and promotes rereplication in human cells. Hiyama T, et al. Nucleic Acids Res, 2006. PMID 16456034, Free PMC Article

    See all (68) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mus81-Eme1-dependent aberrant processing of DNA replication intermediates in mitosis impairs genome integrity.
      Title: Mus81-Eme1-dependent aberrant processing of DNA replication intermediates in mitosis impairs genome integrity.
    2. EME1 is regulated by CK2 in mitosis and after replication stress.
      Title: Phosphorylation by CK2 regulates MUS81/EME1 in mitosis and after replication stress.
    3. The data suggest that subnuclear relocalization is relevant for the function of Mus81-Mms4 complex in response to DNA damage and, probably, of the endonucleases that colocalize with it.
      Title: Subnuclear Relocalization of Structure-Specific Endonucleases in Response to DNA Damage.
    4. SLX4-SLX1 Protein-independent Down-regulation of MUS81-EME1 Protein by HIV-1 Viral Protein R (Vpr).
      Title: SLX4-SLX1 Protein-independent Down-regulation of MUS81-EME1 Protein by HIV-1 Viral Protein R (Vpr).
    5. While Mus81-Eme1 shares several common features with members of the 5' flap nuclease family, the combined structural, biochemical, and biophysical analyses explain why Mus81-Eme1 preferentially cleaves 3' flap DNA substrates with 5' nicked ends.
      Title: Crystal structures of the structure-selective nuclease Mus81-Eme1 bound to flap DNA substrates.
    6. Data show that three structure-selective endonucleases, SLX1-SLX4, MUS81-EME1, and GEN1, define two pathways of Holliday junctions (HJs) resolution in HeLa cells.
      Title: Coordinated actions of SLX1-SLX4 and MUS81-EME1 for Holliday junction resolution in human cells.
    7. Data show that Mus81/Eme1-dependent DNA damage--rather than a global increase in replication-fork stalling--is the cause of incomplete replication in Chk1-deficient cells.
      Title: Structure-specific DNA endonuclease Mus81/Eme1 generates DNA damage caused by Chk1 inactivation.
    8. Results demonstrate a novel role of Wee1 in controlling Mus81-Eme1 and DNA replication in human cells.
      Title: Wee1 controls genomic stability during replication by regulating the Mus81-Eme1 endonuclease.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: A large-scale candidate gene association study of age at menarche and age at natural menopause.
    10. Low Eme1 levels were more sensitive to the drug than tumors with high levels.
      Title: Functional evidence for Eme1 as a marker of cisplatin resistance.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr-mediated cell cycle G2/M arrest requires human SLX4, MUS81, and EME1 proteins in cells PubMed
    vpr HIV-1 Vpr induces untimely activation of SLX4-associated MUS81-EME1 through phosphorylation of EME1 by PLK1 PubMed
    vpr Co-immunoprecipitation and glycerol-gradient sedimentation demonstrate that HIV-1 Vpr, VPRBP, DDB1, SLX4, MUS81, EME1, ERCC1, and ERCC4 form a complex PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ31364

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding EXP
    Inferred from Experiment
    more info
    		 PubMed 
    contributes_to crossover junction DNA endonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in double-strand break repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in double-strand break repair IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitotic intra-S DNA damage checkpoint signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in replication fork processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in replication fork processing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in resolution of meiotic recombination intermediates IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within response to intra-S DNA damage checkpoint signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Holliday junction resolvase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of endodeoxyribonuclease complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in heterochromatin IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear replication fork NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    crossover junction endonuclease EME1
    Names
    MMS4 homolog
    SLX2 structure-specific endonuclease subunit homolog A
    essential meiotic endonuclease 1 homolog 1
    essential meiotic endonuclease 1 homolog 2
    hMMS4
    homolog of yeast EME1 endonuclease

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029665.1 RefSeqGene

      Range
      5010..13264
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001166131.2 → NP_001159603.1  crossover junction endonuclease EME1 isoform 1

      See identical proteins and their annotated locations for NP_001159603.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC004707, BC016470, DA006645, DB245967
      Consensus CDS
      CCDS54141.1
      UniProtKB/Swiss-Prot
      Q96AY2
      Related
      ENSP00000376952.2, ENST00000393271.6

    2. NM_152463.4 → NP_689676.2  crossover junction endonuclease EME1 isoform 2

      See identical proteins and their annotated locations for NP_689676.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC004707, AK055926, BC016470
      Consensus CDS
      CCDS11565.1
      UniProtKB/Swiss-Prot
      Q96AY2, Q96N62
      Related
      ENSP00000339897.4, ENST00000338165.9
      Conserved Domains (1) summary
      pfam02732
      Location:272 → 439
      ERCC4; ERCC4 domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      50373229..50381483
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435470.1 → XP_047291426.1  crossover junction endonuclease EME1 isoform X5

      UniProtKB/Swiss-Prot
      Q96AY2, Q96N62

    2. XM_047435472.1 → XP_047291428.1  crossover junction endonuclease EME1 isoform X4

    3. XM_017024236.3 → XP_016879725.1  crossover junction endonuclease EME1 isoform X1

    4. XM_005257081.4 → XP_005257138.1  crossover junction endonuclease EME1 isoform X3

      See identical proteins and their annotated locations for XP_005257138.1

      Conserved Domains (1) summary
      pfam02732
      Location:115 → 282
      ERCC4; ERCC4 domain

    5. XM_047435471.1 → XP_047291427.1  crossover junction endonuclease EME1 isoform X2

    RNA

    1. XR_007065270.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      51240214..51248468
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315226.1 → XP_054171201.1  crossover junction endonuclease EME1 isoform X4

    2. XM_054315223.1 → XP_054171198.1  crossover junction endonuclease EME1 isoform X1

    3. XM_054315225.1 → XP_054171200.1  crossover junction endonuclease EME1 isoform X3

    4. XM_054315224.1 → XP_054171199.1  crossover junction endonuclease EME1 isoform X2

    RNA

    1. XR_008484789.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96AY2.2 GenPept UniProtKB/Swiss-Prot:Q96AY2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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