Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	80198
Gene name	MUS81 structure-specific endonuclease subunit
Gene symbol	MUS81
Synonyms (NCBI Gene)	SLX3
Chromosome	11
Chromosome location	11q13.1
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,

Show/Hide all (70)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020863	hsa-miR-155-5p	Proteomics	18668040
MIRT2276981	hsa-miR-548aa	CLIP-seq
MIRT2276982	hsa-miR-548ac	CLIP-seq
MIRT2276983	hsa-miR-548ae	CLIP-seq
MIRT2276984	hsa-miR-548aj	CLIP-seq
MIRT2276985	hsa-miR-548am	CLIP-seq
MIRT2276986	hsa-miR-548d-3p	CLIP-seq
MIRT2276987	hsa-miR-548x	CLIP-seq
MIRT2276988	hsa-miR-548z	CLIP-seq
MIRT2575730	hsa-miR-125a-5p	CLIP-seq
MIRT2575731	hsa-miR-125b	CLIP-seq
MIRT2575732	hsa-miR-1275	CLIP-seq
MIRT2575733	hsa-miR-135a	CLIP-seq
MIRT2575734	hsa-miR-135b	CLIP-seq
MIRT2575735	hsa-miR-188-5p	CLIP-seq
MIRT2575736	hsa-miR-2053	CLIP-seq
MIRT2575737	hsa-miR-3619-3p	CLIP-seq
MIRT2575738	hsa-miR-3654	CLIP-seq
MIRT2575739	hsa-miR-3940-5p	CLIP-seq
MIRT2575740	hsa-miR-4287	CLIP-seq
MIRT2575741	hsa-miR-4292	CLIP-seq
MIRT2575742	hsa-miR-4293	CLIP-seq
MIRT2575743	hsa-miR-4308	CLIP-seq
MIRT2575744	hsa-miR-4319	CLIP-seq
MIRT2575745	hsa-miR-4469	CLIP-seq
MIRT2575746	hsa-miR-4492	CLIP-seq
MIRT2575747	hsa-miR-4498	CLIP-seq
MIRT2575748	hsa-miR-4505	CLIP-seq
MIRT2575749	hsa-miR-4507	CLIP-seq
MIRT2575750	hsa-miR-4525	CLIP-seq
MIRT2575751	hsa-miR-4639-5p	CLIP-seq
MIRT2575752	hsa-miR-4665-5p	CLIP-seq
MIRT2575753	hsa-miR-4685-3p	CLIP-seq
MIRT2575754	hsa-miR-4723-5p	CLIP-seq
MIRT2575755	hsa-miR-4732-3p	CLIP-seq
MIRT2575756	hsa-miR-4735-5p	CLIP-seq
MIRT2575757	hsa-miR-4760-5p	CLIP-seq
MIRT2575758	hsa-miR-4776-5p	CLIP-seq
MIRT2575759	hsa-miR-4789-3p	CLIP-seq
MIRT2575760	hsa-miR-4794	CLIP-seq
MIRT2575761	hsa-miR-483-5p	CLIP-seq
MIRT2276981	hsa-miR-548aa	CLIP-seq
MIRT2276982	hsa-miR-548ac	CLIP-seq
MIRT2276983	hsa-miR-548ae	CLIP-seq
MIRT2276984	hsa-miR-548aj	CLIP-seq
MIRT2276985	hsa-miR-548am	CLIP-seq
MIRT2276986	hsa-miR-548d-3p	CLIP-seq
MIRT2276987	hsa-miR-548x	CLIP-seq
MIRT2276988	hsa-miR-548z	CLIP-seq
MIRT2575762	hsa-miR-576-5p	CLIP-seq
MIRT2575763	hsa-miR-596	CLIP-seq
MIRT2575764	hsa-miR-604	CLIP-seq
MIRT2575765	hsa-miR-625	CLIP-seq
MIRT2575766	hsa-miR-642b	CLIP-seq
MIRT2575767	hsa-miR-646	CLIP-seq
MIRT2575768	hsa-miR-647	CLIP-seq
MIRT2575769	hsa-miR-661	CLIP-seq
MIRT2575770	hsa-miR-670	CLIP-seq
MIRT2575771	hsa-miR-762	CLIP-seq
MIRT2575772	hsa-miR-764	CLIP-seq
MIRT2575730	hsa-miR-125a-5p	CLIP-seq
MIRT2575731	hsa-miR-125b	CLIP-seq
MIRT2575740	hsa-miR-4287	CLIP-seq
MIRT2575744	hsa-miR-4319	CLIP-seq
MIRT2575745	hsa-miR-4469	CLIP-seq
MIRT2575751	hsa-miR-4639-5p	CLIP-seq
MIRT2575753	hsa-miR-4685-3p	CLIP-seq
MIRT2575755	hsa-miR-4732-3p	CLIP-seq
MIRT2575770	hsa-miR-670	CLIP-seq
MIRT2575772	hsa-miR-764	CLIP-seq

Show/Hide all (48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000712	Process	Resolution of meiotic recombination intermediates	IBA
GO:0000723	Process	Telomere maintenance	IMP	24813886
GO:0000727	Process	Double-strand break repair via break-induced replication	IBA
GO:0000781	Component	Chromosome, telomeric region	IMP	24813886
GO:0003677	Function	DNA binding	IEA
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IDA	19595721
GO:0004519	Function	Endonuclease activity	IEA
GO:0004520	Function	DNA endonuclease activity	IDA	35290797
GO:0004520	Function	DNA endonuclease activity	IMP	24813886
GO:0005515	Function	Protein binding	IPI	12686547, 17289582, 19017809, 19596235, 19596236, 22551069, 24012755, 24733841, 29892012, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	11741546
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005657	Component	Replication fork	IDA	28575661
GO:0005730	Component	Nucleolus	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IMP	19596235
GO:0006302	Process	Double-strand break repair	IDA	17289582, 18413719
GO:0006302	Process	Double-strand break repair	IEA
GO:0006308	Process	DNA catabolic process	IEA
GO:0006308	Process	DNA catabolic process	IMP	23361013
GO:0006310	Process	DNA recombination	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0008821	Function	Crossover junction DNA endonuclease activity	IBA
GO:0008821	Function	Crossover junction DNA endonuclease activity	IDA	35290797
GO:0008821	Function	Crossover junction DNA endonuclease activity	IEA
GO:0008821	Function	Crossover junction DNA endonuclease activity	IMP	24813886
GO:0016787	Function	Hydrolase activity	IEA
GO:0016889	Function	DNA endonuclease activity, producing 3'-phosphomonoesters	IEA
GO:0031297	Process	Replication fork processing	IDA	17289582, 18413719
GO:0031297	Process	Replication fork processing	IEA
GO:0031297	Process	Replication fork processing	IMP	24813886
GO:0031573	Process	Mitotic intra-S DNA damage checkpoint signaling	IBA
GO:0033687	Process	Osteoblast proliferation	IMP	26415217
GO:0043596	Component	Nuclear replication fork	IMP	24813886
GO:0043596	Component	Nuclear replication fork	NAS	17289582, 18413719
GO:0046872	Function	Metal ion binding	IEA
GO:0048257	Function	3'-flap endonuclease activity	IBA
GO:0048257	Function	3'-flap endonuclease activity	IMP	19595721
GO:0048476	Component	Holliday junction resolvase complex	IBA
GO:0048476	Component	Holliday junction resolvase complex	IDA	24813886, 35290797
GO:0071140	Process	Resolution of mitotic recombination intermediates	IMP	24813886
GO:0072429	Process	Response to intra-S DNA damage checkpoint signaling	IMP	23361013
GO:1905347	Component	Endodeoxyribonuclease complex	IDA	24813886, 35290797
GO:1905347	Component	Endodeoxyribonuclease complex	IEA
GO:1905347	Component	Endodeoxyribonuclease complex	IPI	17289582, 24733841

MIM	HGNC	e!Ensembl
606591	29814	ENSG00000172732

Q96NY9

Protein name

Structure-specific endonuclease subunit MUS81 (EC 3.1.22.-) (Crossover junction endonuclease MUS81) (MUS81 endonuclease homolog)

Protein function

Catalytic subunit of two functionally distinct, structure-specific, heterodimeric DNA endonucleases MUS81-EME1 and MUS81-EME2 that are involved in the maintenance of genome stability (PubMed:11741546, PubMed:12374758, PubMed:12686547, PubMed:127

PDB

2MC3 , 2ZIX , 4P0P , 4P0Q , 4P0R , 4P0S , 6VWB , 7BU5 , 7F6L , 9F98 , 9F99 , 9F9A , 9F9K , 9F9L , 9F9M

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02732	ERCC4	273 → 415	ERCC4 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:11741546}.

Sequence

MAAPVRLGRKRPLPACPNPLFVRWLTEWRDEATRSRRRTRFVFQKALRSLRRYPLPLRSG
KEAKILQHFGDGLCRMLDERLQRHRTSGGDHAPDSPSGENSPAPQGRLAEVQDSSMPVPA
QPKAGGSGSYWPARHSGARVILLVLYREHLNPNGHHFLTKEELLQRCAQKSPRVAPGSAR
PWPALRSLLHRNLVLRTHQPARYSLTPEGLELAQKLAESEGLSLLNVGIGPKEPPGEETA
VPGAASAELASEAGVQQQPLELRPGEYRVLLCVDIGETRGGGHRPELLRELQRLHVTHTV
RKLHVGDFVWVAQETNPRDPANPGELVLDHIVERKRLDDLCSSIIDGRFREQKFRLKRCG
LERRVYLVEEHGSVHNLSLPESTLLQAVTNTQVIDGFFVKRTADIKESAAYLALLTRGLQ
RLYQGHTLRSRPWGTPGNPESGAMTSPNPLCSLLTFSDFNAGAIKNKAQSVREVFARQLM
QVRGVSGEKAAALVDRYSTPASLLAAYDACATPKEQETLLSTIKCGRLQRNLGPALSRTL
SQLYCSYGPLT

Sequence length

551

Interactions

View interactions

	KEGG		Reactome
	Homologous recombination Fanconi anemia pathway		Resolution of D-loop Structures through Holliday Junction Intermediates Fanconi Anemia Pathway

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cervical cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, RECESSIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	29739952	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Associate	19617716, 31633027	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Associate	21399624	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	30947698	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Inhibit	18327812, 21175991	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiac Output Low	Associate	36652992	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromosome Aberrations	Associate	21399624	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromosome Breakage	Associate	23479741	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	21175991, 26867983	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Lymphocytic Chronic B Cell	Stimulate	26970083	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mosaic variegated aneuploidy syndrome	Associate	31114910	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm Invasiveness	Associate	18327812	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Inhibit	21175991	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Stimulate	35910852	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Inhibit	18327812, 21175991	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	21399624, 26273056	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Associate	35910852	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Stimulate	35910852	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms Castration Resistant	Stimulate	35910852	★★★★★ ★☆☆☆☆ Found in Text Mining only

MUS81 (MUS81 structure-specific endonuclease subunit)