• Gene id: 80198

Gene Summary

• Gene Symbol: MUS81   Gene   UCSC   Ensembl
• Aliases: SLX3
• Gene name: MUS81 structure-specific endonuclease subunit
• Alternate names: crossover junction endonuclease MUS81, MUS81 endonuclease homolog, SLX3 structure-specific endonuclease subunit homolog,
• Gene location: 11q13.1 (41185238: 41175230)     Exons: 1     NC_000021.9
• Gene summary(Entrez): 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,
• OMIM: 606591

Protein Summary

• Protein general information: Q96NY9  
  • Name: Crossover junction endonuclease MUS81 (EC 3.1.22. )
  • Length: 551  
  • Mass: 61173
  • Tissue specificity: Widely expressed.
• Sequence:

  MAAPVRLGRKRPLPACPNPLFVRWLTEWRDEATRSRRRTRFVFQKALRSLRRYPLPLRSGKEAKILQHFGDGLCR
  MLDERLQRHRTSGGDHAPDSPSGENSPAPQGRLAEVQDSSMPVPAQPKAGGSGSYWPARHSGARVILLVLYREHL
  NPNGHHFLTKEELLQRCAQKSPRVAPGSARPWPALRSLLHRNLVLRTHQPARYSLTPEGLELAQKLAESEGLSLL
  NVGIGPKEPPGEETAVPGAASAELASEAGVQQQPLELRPGEYRVLLCVDIGETRGGGHRPELLRELQRLHVTHTV
  RKLHVGDFVWVAQETNPRDPANPGELVLDHIVERKRLDDLCSSIIDGRFREQKFRLKRCGLERRVYLVEEHGSVH
  NLSLPESTLLQAVTNTQVIDGFFVKRTADIKESAAYLALLTRGLQRLYQGHTLRSRPWGTPGNPESGAMTSPNPL
  CSLLTFSDFNAGAIKNKAQSVREVFARQLMQVRGVSGEKAAALVDRYSTPASLLAAYDACATPKEQETLLSTIKC
  GRLQRNLGPALSRTLSQLYCSYGPLT

• Structural information:
  • Protein Domains: (270..37-)
    (/note="ERCC4"-)
  • Interpro: IPR027421  IPR006166  IPR011335  IPR036388  
  • PDB: 2MC3 2ZIX 4P0P 4P0Q 4P0R 4P0S
  • PDBsum: 2MC3 2ZIX 4P0P 4P0Q 4P0R 4P0S
  • DIP: 48630
  • STRING: ENSP00000307853
• Other Databases: GeneCards:  MUS81  Malacards:  MUS81

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033687	osteoblast proliferation	IMP	biological process
GO:0048476	Holliday junction resolvase complex	IBA	cellular component
GO:0048257	3'-flap endonuclease activity	IBA	molecular function
GO:0000712	resolution of meiotic recombination intermediates	IBA	biological process
GO:0031573	intra-S DNA damage checkpoint	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000727	double-strand break repair via break-induced replication	IBA	biological process
GO:0048257	3'-flap endonuclease activity	IMP	molecular function
GO:0006281	DNA repair	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0004519	endonuclease activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006310	DNA recombination	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0072429	response to intra-S DNA damage checkpoint signaling	IMP	biological process
GO:0000737	DNA catabolic process, endonucleolytic	IMP	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0036297	interstrand cross-link repair	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005730	nucleolus	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03460	Fanconi anemia pathway
hsa03440	Homologous recombination

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq