Eme1 essential meiotic structure-specific endonuclease 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Eme1provided by MGI
Official Full Name: essential meiotic structure-specific endonuclease 1provided by MGI
Primary source: MGI:MGI:3576783
See related: Ensembl:ENSMUSG00000039055 AllianceGenome:MGI:3576783
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 6820428D13
Summary: Predicted to enable DNA binding activity; endonuclease activity; and metal ion binding activity. Predicted to be involved in DNA metabolic process and mitotic intra-S DNA damage checkpoint signaling. Predicted to act upstream of or within response to intra-S DNA damage checkpoint signaling. Located in heterochromatin. Is expressed in several structures, including adrenal medulla; respiratory system; sensory organ; skeleton; and trunk mesenchyme derived from neural crest. Orthologous to human EME1 (essential meiotic structure-specific endonuclease 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in CNS E11.5 (RPKM 17.9), cortex adult (RPKM 15.1) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 D; 11 58.9 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (94535798..94544611, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (94644972..94653836, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Double mutant mice homozygous for the Mlh3DN/DN and Mus81-/- mutations show losses in chiasmata close to those observed in Mlh3-/- males, indicating that the MUS81-EME1-regulated crossover pathway can only partially account for the increased residual chiasmata in Mlh3DN/DN spermatocytes
Title: A mutation in the endonuclease domain of mouse MLH3 reveals novel roles for MutLγ during crossover formation in meiotic prophase I.
Study found that a Gen1 mutation alone did not affect DNA repair or meiotic recombination in mice; it caused synthetic lethality when combined with Eme1 mutations at an early embryonic stage. Also, combination of Gen1 and Eme1 mutations makes embryonic fibroblasts more sensitive to DNA damage & mice less capable of meiotic recombination. These results indicate that Gen1 and Eme1 are functionally redundant in mice.
Title: Gen1 and Eme1 Play Redundant Roles in DNA Repair and Meiotic Recombination in Mice.
indicate that SLX1 and MUS81-EME1 nucleases act together to resolve Holliday junctions (HJs) in a manner that requires tethering to SLX4.
Title: Cooperative control of holliday junction resolution and DNA repair by the SLX1 and MUS81-EME1 nucleases.
These findings link Eme1 with the replication-associated chromatin modifier functions of Np95 in the cellular response to DNA damage.
Title: Interplay between Np95 and Eme1 in the DNA damage response.
Mus81-Eme1- and Rad54-mediated homologous recombination are involved in the same DNA replication-dependent interstrand crosslinks repair pathway
Title: The structure-specific endonuclease Mus81-Eme1 promotes conversion of interstrand DNA crosslinks into double-strands breaks.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Transposon induced (1) 1 citation
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	ISO Inferred from Sequence Orthology more info
contributes_to crossover junction DNA endonuclease activity	IBA Inferred from Biological aspect of Ancestor more info
enables endonuclease activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nuclease activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA damage response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within DNA recombination	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within DNA repair	IEA Inferred from Electronic Annotation more info
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in double-strand break repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in double-strand break repair	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of Holliday junction resolvase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of chromatin	IDA Inferred from Direct Assay more info	PubMed
part_of endodeoxyribonuclease complex	ISO Inferred from Sequence Orthology more info
part_of heterochromatin	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear replication fork	NAS Non-traceable Author Statement more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: crossover junction endonuclease EME1

Names: essential meiotic endonuclease 1 homolog 1

NP_001366617.1

EC 3.1.22.-

NP_808420.1

EC 3.1.22.-

XP_011247347.1

EC 3.1.22.-

XP_030101897.1

EC 3.1.22.-

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.

mRNA and Protein(s)

NM_001379688.1 → NP_001366617.1 crossover junction endonuclease EME1 isoform 1

Status: VALIDATED

Source sequence(s)

AL645764

Conserved Domains (1) summary

cd20081
Location:243 → 471

XPF_nuclease_EME1; XPF-like nuclease domain of crossover junction endonuclease EME1
NM_177752.5 → NP_808420.1 crossover junction endonuclease EME1 isoform 2

See identical proteins and their annotated locations for NP_808420.1

Status: VALIDATED

Source sequence(s)

AL645764

Consensus CDS

CCDS25262.1

UniProtKB/Swiss-Prot

Q8BJW7

Related

ENSMUSP00000036361.5, ENSMUST00000039949.5

Conserved Domains (2) summary

pfam02732
Location:271 → 439

ERCC4; ERCC4 domain

pfam07304
Location:56 → 115

SRA1; Steroid receptor RNA activator (SRA1)