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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
  • Crossover Junction Endonuclease MUS81 3
  • MUS81 Endonuclease Homolog (Yeast) 2
  • MUS81 Endonuclease Homolog 3
  • EC 3.1.22.- 4
  • EC 3.1.22 61
  • SLX3 3

External Ids for MUS81 Gene

Previous GeneCards Identifiers for MUS81 Gene

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

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 interstrand 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, Apr 2017]

GeneCards Summary for MUS81 Gene

MUS81 (MUS81 Structure-Specific Endonuclease Subunit) is a Protein Coding gene. Diseases associated with MUS81 include Fanconi Anemia, Complementation Group A. Among its related pathways are DNA Double-Strand Break Repair and Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA). 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MUS81 Gene

Genomics for MUS81 Gene

Regulatory Elements for MUS81 Gene

Enhancers for MUS81 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G065886 1.9 FANTOM5 ENCODE dbSUPER 33.8 +38.3 38333 18.4 CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 SNX32 CTSW MUS81 EIF1AD ENSG00000254461 KAT5 ZFPL1 RBM4B EFEMP2 ENSG00000258297
GH11G065414 2.2 FANTOM5 Ensembl ENCODE dbSUPER 26.5 -432.9 -432945 18.8 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZFPL1 NEAT1 LOC105369352 KAT5 EIF1AD FRMD8 MUS81 PCNX3 POLA2 ENSG00000255320
GH11G065910 1.8 FANTOM5 ENCODE dbSUPER 30.8 +58.6 58602 11.4 MLX AGO1 ZFP64 YY1 ZNF143 ZNF263 SP3 MEF2D SSRP1 GLIS1 LOC105369352 ZFPL1 ENSG00000258297 RBM14 MUS81 KAT5 DPF2 ENSG00000254461 RNASEH2C EIF1AD
GH11G065550 1.9 FANTOM5 Ensembl ENCODE dbSUPER 20.8 -300.9 -300935 11.3 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A YBX1 FEZF1 ZNF2 YY1 ENSG00000254461 LOC105369352 MUS81 NEAT1 ZFPL1 RNASEH2C POLA2 SSSCA1-AS1 EHBP1L1 KAT5
GH11G066150 1.1 ENCODE 30.7 +293.9 293934 2.0 HNRNPUL1 ARNT MLX ZFP64 ARID4B SIN3A ZBTB7B YY1 ZNF766 CBX5 ENSG00000258297 RBM14 LOC105369352 KAT5 MUS81 EIF1AD DPF2 ENSG00000254461 PCNX3 POLA2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MUS81 on UCSC Golden Path with GeneCards custom track

Promoters for MUS81 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000040897 1874 4801 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3

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

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

Domains & Families for MUS81 Gene

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

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

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:0004520 endodeoxyribonuclease activity TAS --
GO:0005515 protein binding IPI 12686547
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 Model Products

  • Taconic Biosciences Mouse Models for MUS81

CRISPR Products

miRNA for MUS81 Gene

miRTarBase miRNAs that target MUS81

Inhibitory RNA Products

Clone Products

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
cytosol 2

Gene Ontology (GO) - Cellular Components for MUS81 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IEA --
GO:0048476 Holliday junction resolvase complex IBA --
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 --
GO:0000727 double-strand break repair via break-induced replication IBA --
GO:0000737 DNA catabolic process, endonucleolytic IMP 23361013
GO:0006259 DNA metabolic process IEA --
GO:0006281 DNA repair IMP 19596235
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for MUS81 Gene



Protein tissue co-expression partners for MUS81 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MUS81 Gene:

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

Primer Products

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 34 35
  • 98.91 (n)
dog
(Canis familiaris)
Mammalia MUS81 34 35
  • 86.45 (n)
cow
(Bos Taurus)
Mammalia MUS81 34 35
  • 83.76 (n)
mouse
(Mus musculus)
Mammalia Mus81 34 16 35
  • 82.79 (n)
rat
(Rattus norvegicus)
Mammalia Mus81 34
  • 82.33 (n)
oppossum
(Monodelphis domestica)
Mammalia MUS81 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MUS81 35
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mus81 34
  • 55.13 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.5572 34
zebrafish
(Danio rerio)
Actinopterygii mus81 34 35
  • 56.23 (n)
wufc26g01 34
fruit fly
(Drosophila melanogaster)
Insecta mus81 36 34 35
  • 51.45 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008836 34
  • 49.66 (n)
worm
(Caenorhabditis elegans)
Secernentea mus-81 35
  • 26 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR141C 34
  • 40.03 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MUS81 34 35 37
  • 38.28 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E03015g 34
  • 37.44 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07457 34
  • 44.86 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mus81 34
  • 40.22 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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 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
rs187686630 Uncertain significance 65,866,803(+) TGACC(C/T)GCCCA intron-variant, downstream-variant-500B, utr-variant-3-prime
rs567578262 Uncertain significance 65,865,146(+) ATAAG(G/T)TACTG splice-donor-variant
rs572394429 Uncertain significance 65,866,636(+) TCCTC(A/G)TTACC intron-variant, nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs768555558 Uncertain significance 65,866,752(+) GCCTG(-/C)CCCCC intron-variant, downstream-variant-500B, utr-variant-3-prime
rs77540033 Uncertain significance 65,866,515(+) AGTTT(C/G)AGGCA intron-variant, nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv2759834 CNV gain 17122850
nsv1159905 CNV duplication 26073780
nsv555215 CNV loss 21841781
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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MUS81

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

Disorders for MUS81 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
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. 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 4 22 64
  2. Human Mus81-associated endonuclease cleaves Holliday junctions in vitro. (PMID: 11741546) Chen X.-B. … McGowan C.H. (Mol. Cell 2001) 2 3 4 22 64
  3. 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 4 22 64
  4. BLM helicase facilitates Mus81 endonuclease activity in human cells. (PMID: 15805243) Zhang R. … Harris C.C. (Cancer Res. 2005) 3 4 22 64
  5. RNA interference inhibition of Mus81 reduces mitotic recombination in human cells. (PMID: 14617801) Blais V. … McGowan C.H. (Mol. Biol. Cell 2004) 3 4 22 64

Products for MUS81 Gene

Sources for MUS81 Gene

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