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EME1 - essential meiotic structure-specific endonuclease 1 Gene

Also Known as MMS4L; SLX2A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 146956

About EME1

Cytogenetic location: 17q21.33 Genomic coordinates (GRCh38): 17:50,373,229-50,381,483 (from NCBI)

This gene has 10 transcripts (splice variants), 194 orthologues and 1 paralogue. Broad expression in testis (RPKM 5.3), bone marrow (RPKM 3.4) and 25 other tissues.

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]

EME1 Products (2)

mRNA	Protein	Name
NM_001166131.2	NP_001159603.1	crossover junction endonuclease EME1 isoform 1
NM_152463.4	NP_689676.2	crossover junction endonuclease EME1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA binding	EXP EXP: Inferred from Experiment	18413719	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12686547	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in double-strand break repair	IDA IDA: Inferred from direct assay	18413719	GOA
involved in replication fork processing	IDA IDA: Inferred from direct assay	18413719	GOA
acts upstream of or within response to intra-S DNA damage checkpoint signaling	IMP IMP: Inferred from mutant phenotype	23361013	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of endodeoxyribonuclease complex	IPI IPI: Inferred from physical interaction	24733841	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EME1 Protein Structure

ERCC4

0
100
200
300
400
500
570 a.a.

Protein Preferred Names	Protein Names
crossover junction endonuclease EME1	MMS4 homolog

EME1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	EME1	Q96AY2	SLX4	Homo sapiens	Q8IY92	Anti Tag CoIP	19596236
Intra	EME1	Q96AY2	MUS81	Homo sapiens	Q96NY9	Gal4 VP16 Complement	17289582
Intra	EME1	Q96AY2	MUS81	Homo sapiens	Q96NY9	X-Ray Diffraction	24733841
Intra	EME1	Q96AY2	MUS81	Homo sapiens	Q96NY9	Anti Tag CoIP	19017809
Intra	EME1	Q96AY2	MUS81	Homo sapiens	Q96NY9	Anti Tag CoIP	12686547
Intra	EME1	Q96AY2	MUS81	Homo sapiens	Q96NY9	Pull Down	17289582
Intra	EME1	Q96AY2	MUS81	Homo sapiens	Q96NY9	Anti Tag CoIP	19596236

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Xeroderma Pigmentosum, Variant Type	Xeroderma Pigmentosum XPV Xeroderma Pigmentosum Variant Type Xeroderma Pigmentosum With Normal Dna Repair Rates Photosensitivity With Defective Dna Synthesis Xp De Sanctis-Cacchione Syndrome Desanctis-Cacchione Syndrome Xeroderma Pigmentosa Xerodermic Idiocy Xeroderma Pigmentosum Variant Xp - [Xeroderma Pigmentosum] Atrophoderma Pigmentosum
Xeroderma Pigmentosum, Complementation Group G	Xeroderma Pigmentosum, Group G Xeroderma Pigmentosum Vii Xp7 XPG Xeroderma Pigmentosum Group G Xp Group G Xp, Group G Xpgc Xeroderma Pigmentosum, Group G/Cockayne Syndrome Xeroderma Pigmentosum, Type 7 Xeroderma Pigmentosum Complementation Group G XP-G Xp-G/Cs Xeroderma Pigmentosum Group G/Cockayne Syndrome
Fanconi Anemia, Complementation Group I	Fanconi Anemia Complementation Group I FANCI
Aplastic Anemia	Aplastic Anemia, Susceptibility To Anemia Aplastic Idiopathic Aplastic Anemia Secondary Aplastic Anemia Idiopathic Bone Marrow Failure Aplastic Anemia Idiopathic AA Anemia, Aplastic Aplastic Anemia, Idiopathic Erythroid Aplasia Aa - [Aplastic Anaemia] Haematopoietic Aplasia Aleukia Haemorrhagica Anaemia Due To Decreased Red Cell Production Aplasia Bone Marrow Aplastic Bone Marrow Hypoplastic Anaemia Nos Myeloid Bone Marrow Aplasia Pancytopenia Panhaematopenia Hypoproliferative Anaemia Medullary Hypoplasia Red Blood Cells Hypoplastic Anaemia Panmyelophthisis Panhemocytopenia Refractive Hypoproliferative Anaemia Toxic Anaemia Toxic Aplastic Anaemia Aplastic Anaemia Due To Toxic Cause Idiopathic Aplastic Anaemia Nos
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-181840	MU262	Inhibitor	/	Unkown
HY-RS04346	EME1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	EME1	MGD	MGI:3576783
Macaca mulatta	EME1	VGNC	VGNC:72107
Rattus norvegicus	EME1	RGD	RGD:1309067
Canis familiaris	EME1	VGNC	VGNC:40341
Bos taurus	EME1	VGNC	VGNC:28470
Felis catus	EME1	VGNC	VGNC:61841
Others	EME1	NCBI