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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	80198
Gene name Gene Name - the full gene name approved by the HGNC.	MUS81 structure-specific endonuclease subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MUS81
Synonyms (NCBI Gene) Gene synonyms aliases	SLX3
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q13.1
Summary Summary of gene provided in NCBI Entrez Gene.	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(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000712	Process	Resolution of meiotic recombination intermediates	IBA	21873635
GO:0000727	Process	Double-strand break repair via break-induced replication	IBA	21873635
GO:0000737	Process	DNA catabolic process, endonucleolytic	IMP	23361013
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	12686547, 17289582, 19017809, 19596235, 19596236, 22551069, 24012755, 24733841, 29892012, 32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IEA
GO:0006281	Process	DNA repair	IMP	19596235
GO:0031573	Process	Intra-S DNA damage checkpoint	IBA	21873635
GO:0033687	Process	Osteoblast proliferation	IMP	26415217
GO:0036297	Process	Interstrand cross-link repair	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0048257	Function	3'-flap endonuclease activity	IBA	21873635
GO:0048257	Function	3'-flap endonuclease activity	IMP	19595721
GO:0048476	Component	Holliday junction resolvase complex	IBA	21873635
GO:0072429	Process	Response to intra-S DNA damage checkpoint signaling	IMP	23361013

MIM	HGNC	e!Ensembl
606591	29814	ENSG00000172732

Protein

UniProt ID

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

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Cutis laxa	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB	rs80356758, rs80356750, rs119489101, rs119489102, rs193302865, rs121918374, rs121918375, rs1598354372, rs1371235353, rs1598358449, rs121918376, rs121918377, rs121918378, rs137854453, rs1797225811 View all (31 more)

Show/Hide Text Mining Associations (19)

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

MUS81 (MUS81 structure-specific endonuclease subunit)