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

Gene ID: 146956, updated on 8-Dec-2018

Summary

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
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

Genomic context

See EME1 in Genome Data Viewer
Location:
17q21.33
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (50373220..50381479)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (48450581..48458820)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene xylosyltransferase 2 Neighboring gene mitochondrial ribosomal protein L27 Neighboring gene leucine rich repeat containing 59 Neighboring gene acyl-CoA synthetase family member 2 Neighboring gene mitochondrial ribosomal protein S21 pseudogene 9 Neighboring gene chondroadherin

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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 BioSystems

  • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
    DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • Fanconi Anemia Pathway, organism-specific biosystem (from REACTOME)
    Fanconi Anemia Pathway, organism-specific biosystemFanconi anemia (FA) is a genetic disease of genome instability characterized by congenital skeletal defects, aplastic anemia, susceptibility to leukemias, and cellular sensitivity to DNA damaging age...
  • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
    Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
  • Fanconi anemia pathway, conserved biosystem (from KEGG)
    Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
  • HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
    HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) of replication-independent DNA double strand breaks (DSBs) via homologous recombination repair (HRR) or single strand annealing (SSA) requires the activation of ATM fol...
  • HDR through Homologous Recombination (HRR), organism-specific biosystem (from REACTOME)
    HDR through Homologous Recombination (HRR), organism-specific biosystemHomology directed repair (HDR) through homologous recombination is known as homologous recombination repair (HRR). HRR occurs after extensive resection of DNA double strand break (DSB) ends, which cr...
  • Homologous recombination, organism-specific biosystem (from KEGG)
    Homologous recombination, organism-specific biosystemHomologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves...
  • Homologous recombination, conserved biosystem (from KEGG)
    Homologous recombination, conserved biosystemHomologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves...
  • Homology Directed Repair, organism-specific biosystem (from REACTOME)
    Homology Directed Repair, organism-specific biosystemHomology directed repair (HDR) of DNA double strand breaks (DSBs) requires resection of DNA DSB ends. Resection creates 3'-ssDNA overhangs which then anneal with a homologous DNA sequence. This homol...
  • Resolution of D-Loop Structures, organism-specific biosystem (from REACTOME)
    Resolution of D-Loop Structures, organism-specific biosystemOnce repair synthesis has occurred, the D-loop structure may be resolved either through Holliday junction intermediates or through synthesis-dependent strand-annealing (SDSA) (Prado and Aguilera 2003...
  • Resolution of D-loop Structures through Holliday Junction Intermediates, organism-specific biosystem (from REACTOME)
    Resolution of D-loop Structures through Holliday Junction Intermediates, organism-specific biosystemD-loops generated after strand invasion and DNA repair synthesis during homologous recombination repair (HRR) can be resolved through Holliday junction intermediates.A D-loop can be cleaved by the co...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ31364

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
contributes_to crossover junction endodeoxyribonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endodeoxyribonuclease activity TAS
Traceable Author Statement
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
double-strand break repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
interstrand cross-link repair TAS
Traceable Author Statement
more info
 
intra-S DNA damage checkpoint IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleic acid phosphodiester bond hydrolysis IEA
Inferred from Electronic Annotation
more info
 
replication fork processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
resolution of meiotic recombination intermediates IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to intra-S DNA damage checkpoint signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Holliday junction resolvase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear chromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear heterochromatin IEA
Inferred from Electronic Annotation
more info
 
nucleolus IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

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)

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
    5001..13240
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166131.1NP_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)
    BC016470, DA006645, DB245967
    Consensus CDS
    CCDS54141.1
    UniProtKB/Swiss-Prot
    Q96AY2
    Related
    ENSP00000376952.2, ENST00000393271.6
  2. NM_152463.2NP_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, DB245967
    Consensus CDS
    CCDS11565.1
    UniProtKB/Swiss-Prot
    Q96AY2
    Related
    ENSP00000339897.4, ENST00000338165.8
    Conserved Domains (1) summary
    pfam02732
    Location:272439
    ERCC4; ERCC4 domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    50373220..50381479
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257081.3XP_005257138.1  crossover junction endonuclease EME1 isoform X2

    See identical proteins and their annotated locations for XP_005257138.1

    Conserved Domains (1) summary
    pfam02732
    Location:115282
    ERCC4; ERCC4 domain
  2. XM_017024236.2XP_016879725.1  crossover junction endonuclease EME1 isoform X1

  3. XM_011524395.2XP_011522697.1  crossover junction endonuclease EME1 isoform X3

    Conserved Domains (1) summary
    pfam02732
    Location:75116
    ERCC4; ERCC4 domain

RNA

  1. XR_002957972.1 RNA Sequence

  2. XR_934390.3 RNA Sequence

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