EME1 - essential meiotic structure-specific endonuclease 1 Gene

Homo sapiens

Also known as MMS4L; SLX2A

Gene ID: 146956 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

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

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