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 p... See more...

Aliases for MUS81 Gene

Aliases for MUS81 Gene

  • MUS81 Structure-Specific Endonuclease Subunit 2 3 5
  • Crossover Junction Endonuclease MUS81 3 4
  • SLX3 2 3
  • SLX3 Structure-Specific Endonuclease Subunit Homolog (S. Cerevisiae) 2
  • SLX3 Structure-Specific Endonuclease Subunit Homolog 3
  • MUS81 Endonuclease Homolog (S. Cerevisiae) 2
  • MUS81 Endonuclease Homolog (Yeast) 2
  • MUS81 Endonuclease Homolog 3
  • EC 3.1.22.- 4
  • EC 3.1.22 50
  • FLJ44872 2
  • MUS81 5

External Ids for MUS81 Gene

Previous GeneCards Identifiers for MUS81 Gene

  • GC11P068162
  • GC11P067309
  • GC11P065878
  • GC11P065403
  • GC11P065384
  • GC11P065627
  • GC11P061954
  • GC11P065883
  • GC11P065955

Summaries for MUS81 Gene

Entrez Gene Summary for MUS81 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, 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]

GeneCards Summary for MUS81 Gene

MUS81 (MUS81 Structure-Specific Endonuclease Subunit) is a Protein Coding gene. Diseases associated with MUS81 include Efemp2-Related Cutis Laxa and Cutis Laxa, Autosomal Recessive, Type Ib. Among its related pathways are DNA Double-Strand Break Repair and Resolution of D-loop Structures through Holliday Junction Intermediates. Gene Ontology (GO) annotations related to this gene include nuclease activity and 3'-flap endonuclease activity.

UniProtKB/Swiss-Prot Summary for MUS81 Gene

  • Interacts with EME1 and EME2 to form a DNA structure-specific endonuclease with substrate preference for branched DNA structures with a 5'-end at the branch nick. Typical substrates include 3'-flap structures, replication forks and nicked Holliday junctions. May be required in mitosis for the processing of stalled or collapsed replication forks.

Gene Wiki entry for MUS81 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MUS81 Gene

Genomics for MUS81 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MUS81 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MUS81 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MUS81

Top Transcription factor binding sites by QIAGEN in the MUS81 gene promoter:
  • AP-1
  • AP-2gamma
  • AP-4
  • COMP1
  • E47
  • GATA-2
  • Lmo2
  • Pax-2
  • Pax-6

Genomic Locations for MUS81 Gene

Latest Assembly
chr11:65,857,126-65,867,653
(GRCh38/hg38)
Size:
10,528 bases
Orientation:
Plus strand

Previous Assembly
chr11:65,627,904-65,635,124
(GRCh37/hg19 by Entrez Gene)
Size:
7,221 bases
Orientation:
Plus strand

chr11:65,624,597-65,635,124
(GRCh37/hg19 by Ensembl)
Size:
10,528 bases
Orientation:
Plus strand

Genomic View for MUS81 Gene

Genes around MUS81 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MUS81 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MUS81 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MUS81 Gene

Proteins for MUS81 Gene

  • Protein details for MUS81 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96NY9-MUS81_HUMAN
    Recommended name:
    Crossover junction endonuclease MUS81
    Protein Accession:
    Q96NY9
    Secondary Accessions:
    • Q9H7D9

    Protein attributes for MUS81 Gene

    Size:
    551 amino acids
    Molecular mass:
    61173 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • May self-associate. Interacts with EME1, EME2 and CHEK2. Interacts with BLM, and this interaction may stimulate the endonuclease activity of MUS81. Interacts with SLX4/BTBD12; this interaction is direct and links the MUS81-EME1 complex to SLX4, which may coordinate the action of the structure-specific endonuclease during DNA repair. Interacts with DCLRE1B/Apollo.
    SequenceCaution:
    • Sequence=BAB14953.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MUS81 Gene

neXtProt entry for MUS81 Gene

Selected DME Specific Peptides for MUS81 Gene

Q96NY9:
  • EVFARQLMQ
  • GDFVWVA
  • DGRFREQK
  • WLTEWRD
  • ERKRLDDL
  • DGFFVKR
  • RNLGPALSRT

Post-translational modifications for MUS81 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

  • Abcam antibodies for MUS81
  • Boster Bio Antibodies for MUS81

Domains & Families for MUS81 Gene

Gene Families for MUS81 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MUS81 Gene

InterPro:
Blocks:
  • Helix-hairpin-helix DNA-binding, class 1

Suggested Antigen Peptide Sequences for MUS81 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ44872 fis, clone BRAMY2022320, highly similar to Crossover junction endonuclease MUS81 (EC 3.1.22.-) (B3KX63_HUMAN)
  • Crossover junction endonuclease MUS81 (MUS81_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96NY9

UniProtKB/Swiss-Prot:

MUS81_HUMAN :
  • Belongs to the XPF family.
Family:
  • Belongs to the XPF family.
genes like me logo Genes that share domains with MUS81: view

Function for MUS81 Gene

Molecular function for MUS81 Gene

UniProtKB/Swiss-Prot Function:
Interacts with EME1 and EME2 to form a DNA structure-specific endonuclease with substrate preference for branched DNA structures with a 5'-end at the branch nick. Typical substrates include 3'-flap structures, replication forks and nicked Holliday junctions. May be required in mitosis for the processing of stalled or collapsed replication forks.
UniProtKB/Swiss-Prot Induction:
Up-regulated in cells treated with agents that damage DNA or block replication. This up-regulation seems to be independent of transcription.

Enzyme Numbers (IUBMB) for MUS81 Gene

Phenotypes From GWAS Catalog for MUS81 Gene

Gene Ontology (GO) - Molecular Function for MUS81 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0004518 nuclease activity IEA --
GO:0004519 endonuclease activity IEA --
GO:0005515 protein binding IPI 12686547
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with MUS81: view
genes like me logo Genes that share phenotypes with MUS81: view

Animal Models for MUS81 Gene

MGI Knock Outs for MUS81:

Animal Models for research

  • Taconic Biosciences Mouse Models for MUS81

miRNA for MUS81 Gene

miRTarBase miRNAs that target MUS81

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MUS81

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MUS81 Gene

Localization for MUS81 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MUS81 Gene

Nucleus, nucleolus. Note=Recruited to foci of DNA damage in S-phase cells.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MUS81 gene
Compartment Confidence
nucleus 5
mitochondrion 3
cytoskeleton 2
cytosol 2
plasma membrane 1
extracellular 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MUS81 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IEA --
GO:0048476 Holliday junction resolvase complex IBA 21873635
genes like me logo Genes that share ontologies with MUS81: view

Pathways & Interactions for MUS81 Gene

genes like me logo Genes that share pathways with MUS81: view

Gene Ontology (GO) - Biological Process for MUS81 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000712 resolution of meiotic recombination intermediates IBA 21873635
GO:0000727 double-strand break repair via break-induced replication IBA 21873635
GO:0000737 DNA catabolic process, endonucleolytic IMP 23361013
GO:0006281 DNA repair IMP 19596235
GO:0006310 DNA recombination IEA --
genes like me logo Genes that share ontologies with MUS81: view

No data available for SIGNOR curated interactions for MUS81 Gene

Drugs & Compounds for MUS81 Gene

(1) Drugs for MUS81 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
genes like me logo Genes that share compounds with MUS81: view

Transcripts for MUS81 Gene

mRNA/cDNA for MUS81 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MUS81

Alternative Splicing Database (ASD) splice patterns (SP) for MUS81 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b ^ 16a ·
SP1: - - - - -
SP2:
SP3: - - - -
SP4: - -
SP5:
SP6:
SP7:
SP8: - - - -
SP9:
SP10:

ExUns: 16b · 16c ^ 17 ^ 18a · 18b · 18c · 18d
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9: -
SP10: -

Relevant External Links for MUS81 Gene

GeneLoc Exon Structure for
MUS81

Expression for MUS81 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MUS81 Gene

Protein differential expression in normal tissues from HIPED for MUS81 Gene

This gene is overexpressed in Lung (68.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MUS81 Gene



Protein tissue co-expression partners for MUS81 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MUS81

SOURCE GeneReport for Unigene cluster for MUS81 Gene:

Hs.288798

mRNA Expression by UniProt/SwissProt for MUS81 Gene:

Q96NY9-MUS81_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for MUS81 Gene

  • Nervous system(4.8)
  • Skin(2.4)
  • Intestine(2.4)
  • Kidney(2.1)
  • Lung(2)
genes like me logo Genes that share expression patterns with MUS81: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MUS81 Gene

Orthologs for MUS81 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MUS81 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MUS81 29 30
  • 98.91 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MUS81 29 30
  • 86.45 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MUS81 29 30
  • 83.76 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mus81 29 16 30
  • 82.79 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mus81 29
  • 82.33 (n)
Oppossum
(Monodelphis domestica)
Mammalia MUS81 30
  • 67 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MUS81 30
  • 46 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mus81 29
  • 55.13 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.5572 29
Zebrafish
(Danio rerio)
Actinopterygii mus81 29 30
  • 56.23 (n)
OneToOne
wufc26g01 29
Fruit Fly
(Drosophila melanogaster)
Insecta mus81 29 30 31
  • 51.45 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008836 29
  • 49.66 (n)
Worm
(Caenorhabditis elegans)
Secernentea mus-81 30
  • 26 (a)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFR141C 29
  • 40.03 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MUS81 29 30 32
  • 38.28 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E03015g 29
  • 37.44 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU07457 29
  • 44.86 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mus81 29
  • 40.22 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 36 (a)
OneToOne
Species where no ortholog for MUS81 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MUS81 Gene

ENSEMBL:
Gene Tree for MUS81 (if available)
TreeFam:
Gene Tree for MUS81 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MUS81: view image
Alliance of Genome Resources:
Additional Orthologs for MUS81

Paralogs for MUS81 Gene

(1) SIMAP similar genes for MUS81 Gene using alignment to 9 proteins:

  • MUS81_HUMAN
  • B3KX63_HUMAN
  • E9PII7_HUMAN
  • E9PL60_HUMAN
  • E9PRI1_HUMAN
  • H0YDE3_HUMAN
  • H0YDK3_HUMAN
  • H0YDU2_HUMAN
  • H0YE94_HUMAN
genes like me logo Genes that share paralogs with MUS81: view

No data available for Paralogs for MUS81 Gene

Variants for MUS81 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MUS81 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
1016757 Uncertain Significance: Autosomal recessive cutis laxa type 1B 65,867,030(+) C/A
NM_016938.5(EFEMP2):c.1220G>T (p.Gly407Val)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT