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 (32)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	29739952		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating hemiplegia of childhood	Pubtator	19617716, 31633027	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	18054789, 21399624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom syndrome	Pubtator	21399624	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19714462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30947698	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	21187482		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	18327812, 21175991	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	28510302		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	27255997, 29393493, 31258731		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	16456034, 26714930, 28291626		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21175991, 26867983	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	16456034, 17934473		★★★★★ ★☆☆☆☆ Found in Text Mining only
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB	Cutis Laxa	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epithelial ovarian cancer	Ovarian cancer	BEFREE	29393493, 31258731		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	BEFREE	26714930		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	29739952		★★★★★ ★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY 13	Immunodeficiency	BEFREE	25818288		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18327812, 26714930, 27939696, 28291626		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19714462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	27255997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	21187482, 31142662		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21187482, 26273056		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	16456034, 26714930, 28291626		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mosaic variegated aneuploidy syndrome	Mosaic variegated aneuploidy	Pubtator	31114910	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18327812, 21187482, 26714930, 26876210, 29393493		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17118488		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	27255997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	35910852	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	35910852	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	21187482, 31142662		★★★★★ ★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum, group F	Xeroderma Pigmentosum	BEFREE	27255997		★★★★★ ★☆☆☆☆ Found in Text Mining only

MUS81 (MUS81 structure-specific endonuclease subunit)