Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MUS81 Gene

Aliases for MUS81 Gene

  • MUS81 Structure-Specific Endonuclease Subunit 2 3 5
  • 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 63
  • SLX3 3

External Ids for MUS81 Gene

Previous GeneCards Identifiers for MUS81 Gene

  • GC11P068162
  • GC11P067309
  • GC11P065403
  • GC11P065384
  • GC11P065627
  • GC11P061954

Summaries for MUS81 Gene

GeneCards Summary for MUS81 Gene

MUS81 (MUS81 Structure-Specific Endonuclease Subunit) is a Protein Coding gene. Diseases associated with MUS81 include bloom syndrome and fanconi anemia, complementation group a. Among its related pathways are DNA Double-Strand Break Repair and Fanconi anemia pathway. GO annotations related to this gene include nuclease activity and 3-flap endonuclease activity.

UniProtKB/Swiss-Prot 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 Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MUS81 Gene

Genomics for MUS81 Gene

Regulatory Elements for MUS81 Gene

Genomic Location for MUS81 Gene

Chromosome:
11
Start:
65,857,126 bp from pter
End:
65,867,653 bp from pter
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

Proteomics data for MUS81 Gene at MOPED

Selected DME Specific Peptides for MUS81 Gene

Post-translational modifications for MUS81 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for MUS81 Gene

Graphical View of Domain Structure for InterPro Entry

Q96NY9

UniProtKB/Swiss-Prot:

MUS81_HUMAN :
  • Contains 1 ERCC4 domain.
  • Belongs to the XPF family.
Domain:
  • Contains 1 ERCC4 domain.
Family:
  • Belongs to the XPF family.
genes like me logo Genes that share domains with MUS81: view

No data available for Gene Families for MUS81 Gene

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

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

Animal Models for MUS81 Gene

MGI Knock Outs for MUS81:

Animal Model Products

  • Taconic Biosciences Mouse Models for MUS81

miRNA for MUS81 Gene

miRTarBase miRNAs that target MUS81

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for MUS81 Gene COMPARTMENTS Subcellular localization image for MUS81 gene
Compartment Confidence
nucleus 5
mitochondrion 3
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for MUS81 Gene

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:0006259 DNA metabolic process IEA --
GO:0036297 interstrand cross-link repair TAS --
GO:0090305 nucleic acid phosphodiester bond hydrolysis 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 Nutra 0
genes like me logo Genes that share compounds with MUS81: view

Transcripts for MUS81 Gene

Unigene Clusters for MUS81 Gene

MUS81 endonuclease homolog (S. cerevisiae):
Representative Sequences:

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
ECgene alternative splicing isoforms for
MUS81

Expression for MUS81 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for MUS81 Gene



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.
genes like me logo Genes that share expression patterns with MUS81: view

Protein tissue co-expression partners for MUS81 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia MUS81 35
  • 83.76 (n)
  • 84.32 (a)
MUS81 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MUS81 35
  • 86.45 (n)
  • 85.48 (a)
MUS81 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mus81 35
  • 82.79 (n)
  • 82 (a)
Mus81 16
Mus81 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MUS81 35
  • 98.91 (n)
  • 98 (a)
MUS81 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mus81 35
  • 82.33 (n)
  • 82.15 (a)
oppossum
(Monodelphis domestica)
Mammalia MUS81 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MUS81 36
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mus81 35
  • 55.13 (n)
  • 52.38 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.5572 35
zebrafish
(Danio rerio)
Actinopterygii mus81 35
  • 56.23 (n)
  • 54.7 (a)
wufc26g01 35
mus81 36
  • 47 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta mus81 37
  • 42 (a)
mus81 35
  • 51.45 (n)
  • 45.66 (a)
mus81 36
  • 40 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008836 35
  • 49.66 (n)
  • 42.77 (a)
worm
(Caenorhabditis elegans)
Secernentea mus-81 36
  • 26 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR141C 35
  • 40.03 (n)
  • 30.13 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E03015g 35
  • 37.44 (n)
  • 28.54 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MUS81 35
  • 38.28 (n)
  • 31.88 (a)
MUS81 36
  • 22 (a)
OneToOne
MUS81 38
bread mold
(Neurospora crassa)
Ascomycetes NCU07457 35
  • 44.86 (n)
  • 34.8 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mus81 35
  • 40.22 (n)
  • 33.26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToOne
Species with no ortholog for MUS81:
  • 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 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)

Paralogs for MUS81 Gene

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

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 from dbSNP and Humsavar for MUS81 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs2298447 - 65,862,489(+) CCCTC(C/T)TTCAC nc-transcript-variant, reference, missense
rs13817 - 65,860,863(+) CAGGC(A/G)CCGCA nc-transcript-variant, reference, missense
rs765593 - 65,865,261(+) ATGCA(C/G)GTGCG nc-transcript-variant, downstream-variant-500B, reference, missense
rs545500 - 65,862,463(-) AGGGT(C/G)GAGCA nc-transcript-variant, reference, missense
rs34891773 - 65,863,890(+) GCTTC(C/T)GGGAG nc-transcript-variant, reference, missense, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for MUS81 Gene

Variant ID Type Subtype PubMed ID
nsv897736 CNV Loss 21882294
dgv393e1 CNV Complex 17122850
dgv1185n71 CNV Loss 21882294
nsv897763 CNV Loss 21882294
nsv897764 CNV Loss 21882294
nsv897766 CNV Loss 21882294
nsv832191 CNV Loss 17160897

Variation tolerance for MUS81 Gene

Residual Variation Intolerance Score: 52.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.18; 97.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MUS81 Gene

HapMap Linkage Disequilibrium report
MUS81

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MUS81 Gene

Disorders for MUS81 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MUS81 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
bloom syndrome
  • bloom-torre-machacek syndrome
fanconi anemia, complementation group a
  • fanconi's anemia
- elite association - COSMIC cancer census association via MalaCards
Search MUS81 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MUS81

Genetic Association Database (GAD)
MUS81
Human Genome Epidemiology (HuGE) Navigator
MUS81
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MUS81
genes like me logo Genes that share disorders with MUS81: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MUS81 Gene

Publications for MUS81 Gene

  1. Human Mus81-associated endonuclease cleaves Holliday junctions in vitro. (PMID: 11741546) Chen X.-B. … McGowan C.H. (Mol. Cell 2001) 2 3 4 23 67
  2. Holliday junction resolution in human cells: two junction endonucleases with distinct substrate specificities. (PMID: 12374758) Constantinou A. … West S.C. (EMBO J. 2002) 2 3 23
  3. Telomere recombination requires the MUS81 endonuclease. (PMID: 19363487) Zeng S. … Yang Q. (Nat. Cell Biol. 2009) 3 23
  4. Coordination of structure-specific nucleases by human SLX4/BTBD12 is required for DNA repair. (PMID: 19595721) Munoz I.M. … Rouse J. (Mol. Cell 2009) 3 23
  5. Bloom's syndrome helicase and Mus81 are required to induce transient double-strand DNA breaks in response to DNA replication stress. (PMID: 18054789) Shimura T. … Aladjem M.I. (J. Mol. Biol. 2008) 3 23

Products for MUS81 Gene

Sources for MUS81 Gene

Back to Top

Content