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

Gene ID: 146956, updated on 13-Apr-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
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Genomic context

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Location:
17q21.33
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (50373229..50381483)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (51240214..51248468)
105.20220307 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
  • 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. 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
  3. Subnuclear Relocalization of Structure-Specific Endonucleases in Response to DNA Damage. Saugar I, et al. Cell Rep, 2017 Aug 15. PMID 28813668
  4. Crystal structures of the structure-selective nuclease Mus81-Eme1 bound to flap DNA substrates. Gwon GH, et al. EMBO J, 2014 May 2. PMID 24733841, Free PMC Article
  5. Cleavage mechanism of human Mus81-Eme1 acting on Holliday-junction structures. Taylor ER, et al. Proc Natl Acad Sci U S A, 2008 Mar 11. PMID 18310322, Free PMC Article

See all (65) 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 
part_of 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
NP_001159603.1
NP_689676.2
XP_005257138.1
XP_016879725.1
XP_047291426.1
XP_047291427.1
XP_047291428.1
XP_054171198.1
XP_054171199.1
XP_054171200.1
XP_054171201.1

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_2023_10

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

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