MUS81 - MUS81 structure-specific endonuclease subunit Gene

Also Known as SLX3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 80198

About MUS81

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:65,859,674-65,867,653 (from NCBI)

This gene has 17 transcripts (splice variants) and 181 orthologues. Ubiquitous expression in spleen (RPKM 12.7), endometrium (RPKM 11.9) and 25 other tissues.

Summary

This gene encodes a structure-specific Endonuclease which belongs to the XPF/MUS81 Endonuclease family and plays a critical role in the resolution of recombination intermediates during DNA repair after inter-strand cross-links, replication fork collapse, and DNA double-strand breaks. The encoded protein associates with one of two closely related essential meiotic Endonuclease proteins (EME1 or EME2) to form a complex that processes DNA secondary structures. It contains an N-terminal DEAH helicase domain, an excision repair cross complementation group 4 (ERCC4) Endonuclease domain, and two tandem C-terminal helix-hairpin-helix domains. Mice with a homozygous knockout of the orthologous gene have significant meiotic defects including the failure to repair a subset of DNA double strand breaks. [provided by RefSeq, Jun 2017]

MUS81 Products (2)

mRNA	Protein	Name
NM_001350283.2	NP_001337212.1	crossover junction endonuclease MUS81 isoform 1
NM_025128.5	NP_079404.3	crossover junction endonuclease MUS81 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 3'-flap endonuclease activity	IMP IMP: Inferred from mutant phenotype	19595721	GOA
enables endonuclease activity	IDA IDA: Inferred from direct assay	19595721	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12686547	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within DNA catabolic process	IMP IMP: Inferred from mutant phenotype	23361013	GOA
involved in DNA repair	IMP IMP: Inferred from mutant phenotype	19596235	GOA
involved in double-strand break repair	IDA IDA: Inferred from direct assay	17289582	GOA
involved in osteoblast proliferation	IMP IMP: Inferred from mutant phenotype	26415217	GOA
involved in replication fork processing	IDA IDA: Inferred from direct assay	17289582	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	17289582	GOA
is active in replication fork	IDA IDA: Inferred from direct assay	28575661	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

MUS81 Protein Structure

ERCC4

0
100
200
300
400
500
551 a.a.

Protein Preferred Names	Protein Names
crossover junction endonuclease MUS81	MUS81 endonuclease homolog

MUS81 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MUS81	Q96NY9	SLX4	Homo sapiens	Q8IY92	Y2H Array	29892012
Intra	MUS81	Q96NY9	SLX4	Homo sapiens	Q8IY92	Anti Tag CoIP	19596236
Intra	MUS81	Q96NY9	SLX4	Homo sapiens	Q8IY92	Y2H Prey Pooling	32296183
Intra	MUS81	Q96NY9	SLX4	Homo sapiens	Q8IY92	Anti Tag CoIP	19596235
Intra	MUS81	Q96NY9	SLX4	Homo sapiens	Q8IY92	Confocal	19596235
Intra	MUS81	Q96NY9	SLX4	Homo sapiens	Q8IY92	Y2H Array	32296183
Intra	MUS81	Q96NY9	EME1	Homo sapiens	Q96AY2	Anti Tag CoIP	33961781
Intra	MUS81	Q96NY9	EME1	Homo sapiens	Q96AY2	Enzymatic Study	12686547
Intra	MUS81	Q96NY9	EME1	Homo sapiens	Q96AY2	Nuclease Assay	17289582
Intra	MUS81	Q96NY9	FEN1	Homo sapiens	P39748	Anti Tag CoIP	22551069
Intra	MUS81	Q96NY9	FEN1	Homo sapiens	P39748	Pull Down	22551069
Intra	MUS81	Q96NY9	FEN1	Homo sapiens	P39748	IF	22551069
Intra	MUS81	Q96NY9	EME2	Homo sapiens	A4GXA9	Nuclease Assay	17289582

Cross: Cross-species interaction Intra: Intraspecies interaction

MUS81 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P89662	MUS81 Antibody (YA9006)	WB, ICC/IF, IF-Tissue, IP, ELISA	human, mouse, rat

Related Diseases

Diseases	Alias
Cutis Laxa, Autosomal Recessive, Type Ib	ARCL1B Cutis Laxa, Autosomal Recessive, Type 1b Autosomal Recessive Cutis Laxa Type Ib Lethal Arteriopathy Syndrome Due To Fibulin-4 Deficiency Cutis Laxa, Autosomal Recessive, 1b Cutis Laxa Autosomal Recessive Type Ib
Schimke Immunoosseous Dysplasia	Schimke Immuno-Osseous Dysplasia SIOD Immunoosseous Dysplasia, Schimke Type Schimke Syndrome Immunoosseous Dysplasia Schimke Type Spondyloepiphyseal Dysplasia - Nephrotic Syndrome Spondyloepiphyseal Dysplasia Nephrotic Syndrome Spondyloepiphyseal Dysplasia-Nephrotic Syndrome
Interstitial Nephritis, Karyomegalic	Karyomegalic Interstitial Nephritis KMIN Kin Systemic Karyomegaly Karyomegalic Tubulointerstitial Nephritis Ktn
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 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
Spastic Paraplegia 4, Autosomal Dominant	SPG4 Hereditary Spastic Paraplegia 4 Fsp2 Autosomal Dominant Spastic Paraplegia Type 4 Familial Spastic Paraplegia, Autosomal Dominant, 2 Autosomal Dominant Spastic Paraplegia 4 Familial Spastic Paraplegia Autosomal Dominant 2 Paraplegia, Spastic, Autosomal Dominant, Type 4
Xeroderma Pigmentosum, Complementation Group F	Xeroderma Pigmentosum, Group F Xeroderma Pigmentosum Vi Xp6 Xeroderma Pigmentosum, Type F/Cockayne Syndrome XPF Xp, Group F Xeroderma Pigmentosum Group F Xp Group F Xeroderma Pigmentosum, Type 6 Xeroderma Pigmentosum Complementation Group F XP-F Xeroderma Pigmentosum Type F/Cockayne Syndrome XPF/CS
Rapadilino Syndrome	Absent Thumbs, Dislocated Joints, Long Face With Narrow Palpebral Fissures, Long Slender Nose, Arched Palate Radial And Patellar Aplasia Radial And Patellar Hypoplasia RAPADILINOS
Chronic Fatigue Syndrome	Myalgic Encephalomyelitis Postviral Fatigue Syndrome Cfs Myalgic Encephalitis Encephalomyelitis, Myalgic Chronic Fatigue Fatigue Syndrome, Chronic Benign Myalgic Encephalomyelitis Akureyri Akureyri Disease Cfs - [Chronic Fatigue Syndrome] Epidemic Neuromyasthenia Myalgic Encephalomyelitis Syndrome Me - [Myalgic Encephalomyelitis] Pvfs - [Postviral Fatigue Syndrome] Neuromyasthenia Iceland Disease Icelandic Disease
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
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism

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 (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-163699	MUS81-IN-1	Inhibitor	99.42%	Unkown
HY-175812	MU876	Inhibitor	97.00%	Unkown
HY-181840	MU262	Inhibitor	/	Unkown
HY-RS08851	MUS81 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22657	Mus81 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29171	Mus81 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MUS81	MGD	MGI:1918961
Canis familiaris	MUS81	VGNC	VGNC:43503
Felis catus	MUS81	VGNC	VGNC:63666
Bos taurus	MUS81	VGNC	VGNC:31762
Macaca mulatta	MUS81	VGNC	VGNC:75041
Rattus norvegicus	MUS81	RGD	RGD:1311957
Others	MUS81	NCBI