MUS81 - MUS81 structure-specific endonuclease subunit Gene

Homo sapiens

Also known as SLX3

Gene ID: 80198 | Gene type: protein coding

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

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-163699	MUS81-IN-1	Inhibitor	99.42%	Unkown
HY-RS08851	MUS81 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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