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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MUS81 Gene

protein-coding   GIFtS: 64
GCID: GC11P065627

MUS81 Structure-Specific Endonuclease Subunit

(Previous names: MUS81 endonuclease homolog (yeast), MUS81 endonuclease homolog...)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
MUS81 Structure-Specific Endonuclease Subunit1 2     Crossover Junction Endonuclease MUS812
MUS81 Endonuclease Homolog (S. Cerevisiae)1     MUS81 Endonuclease Homolog2
MUS81 Endonuclease Homolog (Yeast)1     SLX3 Structure-Specific Endonuclease Subunit Homolog2
SLX3 Structure-Specific Endonuclease Subunit Homolog (S. Cerevisiae)1     EC 3.1.22.-3
SLX32     EC 3.1.228

External Ids:    HGNC: 298141   Entrez Gene: 801982   Ensembl: ENSG000001727327   OMIM: 6065915   UniProtKB: Q96NY93   

Export aliases for MUS81 gene to outside databases

Previous GC identifers: GC11P068162 GC11P067309 GC11P065878 GC11P065403 GC11P065384 GC11P061954


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for MUS81 Gene: 
MUS81 (MUS81 structure-specific endonuclease subunit) is a protein-coding gene. Diseases associated with MUS81 include mutagen sensitivity, and bloom syndrome, and among its related super-pathways are Homologous recombination. GO annotations related to this gene include 3'-flap endonuclease activity and metal ion binding.

UniProtKB/Swiss-Prot: MUS81_HUMAN, Q96NY9
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

Gene Wiki entry for MUS81 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_167190.1  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MUS81 gene promoter:
         AP-1   Pax-6   COMP1   Pax-2   Lmo2   AP-4   AP-2gamma   E47   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MUS81 promoter sequence
   Search SABiosciences Chromatin IP Primers for MUS81

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MUS81


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13   Ensembl cytogenetic band:  11q13.1   HGNC cytogenetic band: 11q13

MUS81 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MUS81 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P065627:  view genomic region     (about GC identifiers)

Start:
65,624,597 bp from pter      End:
65,635,124 bp from pter
Size:
10,528 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MUS81_HUMAN, Q96NY9 (See protein sequence)
Recommended Name: Crossover junction endonuclease MUS81  
Size: 551 amino acids; 61173 Da
Cofactor: Magnesium
Subunit: 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
Subcellular location: Nucleus, nucleolus. Note=Recruited to foci of DNA damage in S-phase cells
Developmental stage: Expressed in S phase and G2 phase
Sequence caution: Sequence=BAB14953.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for MUS81:
2ZIX (3D)    
Secondary accessions: Q9H7D9

Explore the universe of human proteins at neXtProt for MUS81: NX_Q96NY9

Explore proteomics data for MUS81 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96NY9

  • 4/7 DME Specific Peptides for MUS81 (Q96NY9) (see all 7)
     DGFFVKR  WLTEWRD  GDFVWVA  DGRFREQK 

    MUS81 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MUS81 Protein Expression
    REFSEQ proteins: NP_079404.3  
    ENSEMBL proteins: 
     ENSP00000431979   ENSP00000432287   ENSP00000307853   ENSP00000431478   ENSP00000433473  
     ENSP00000434305   ENSP00000433809   ENSP00000435277  

    Human Recombinant Protein Products for MUS81: 
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    OriGene Purified Protein for MUS81
    OriGene Protein Over-expression Lysate for MUS81
    OriGene MassSpec for MUS81 
    OriGene Custom Protein Services for MUS81
    GenScript Custom Purified and Recombinant Proteins Services for MUS81
    Novus Biologicals MUS81 Proteins
    Novus Biologicals MUS81 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MUS81 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus IEA--

    MUS81 for ontologies           About GeneDecksing



    MUS81 Antibody Products: 
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    ThermoFisher Antibody for MUS81
    LSBio Antibodies in human, mouse, rat for MUS81 

    Assay Products for MUS81: 
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    Cloud-Clone Corp. ELISAs for MUS81 
    Cloud-Clone Corp. CLIAs for MUS81


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR010996 DNA_pol_b-like_N
     IPR003583 Hlx-hairpin-Hlx_DNA-bd_motif
     IPR011335 Restrct_endonuc-II-like
     IPR020819 DNA_repair_nuc_XPF/helicase
     IPR006166 ERCC4_domain

    Graphical View of Domain Structure for InterPro Entry Q96NY9

    ProtoNet protein and cluster: Q96NY9

    1 Blocks protein domain: IPB003583 Helix-hairpin-helix DNA-binding

    UniProtKB/Swiss-Prot: MUS81_HUMAN, Q96NY9
    Similarity: Belongs to the XPF family
    Similarity: Contains 1 ERCC4 domain


    MUS81 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MUS81_HUMAN, Q96NY9
    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
    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): EC 3.1.222 EC 3.1.22.-1

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003824catalytic activity ----
    GO:0004518nuclease activity ----
    GO:0005515protein binding IPI12686547
    GO:0046872metal ion binding IEA--
         
    MUS81 for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Mus81):
     cardiovascular system  cellular  homeostasis/metabolism  immune system  mortality/aging 
     reproductive system  tumorigenesis 

    MUS81 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for MUS81: Mus81tm1Raz Mus81tm1Chmg Mus81tm1Esse

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MUS81 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MUS81

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MUS81 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MUS81 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MUS81
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate MUS81:
    hsa-miR-345 hsa-miR-548d-3p
    SwitchGear 3'UTR luciferase reporter plasmidMUS81 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for MUS81
    Sirion Biotech Customized adenovirus for overexpression of MUS81

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for MUS81 (see all 7)
    OriGene ORF clones in mouse, rat for MUS81
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MUS81 (NM_025128)
    Sino Biological Human cDNA Clone for MUS81
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MUS81
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MUS81
    Sirion Biotech Customized lentivirus for stable overexpression of MUS81 
                         Customized lentivirus expression plasmids for stable overexpression of MUS81 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for MUS81
    Search LifeMap BioReagents cell lines for MUS81
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MUS81


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MUS81 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Homologous recombination
    Homologous recombination0.40
    2Fanconi anemia pathway
    Fanconi anemia pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    2         Kegg Pathways  (Kegg details for MUS81):
        Homologous recombination
    Fanconi anemia pathway


    MUS81 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MUS81

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    5/93 Interacting proteins for MUS81 (Q96NY91, 2, 3 ENSP000003078534) via UniProtKB, MINT, STRING, and/or I2D (see all 93)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=4 
    HIST1H4BP628053I2D: score=4 
    HIST1H4CP628053I2D: score=4 
    HIST1H4DP628053I2D: score=4 
    HIST1H4EP628053I2D: score=4 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281DNA repair IMP19596235
    GO:0006310DNA recombination IEA--

    MUS81 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MUS81

    1 HMDB Compound for MUS81    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--

    Search CenterWatch for drugs/clinical trials and news about MUS81

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MUS81 gene: 
    NM_025128.4  

    Unigene Cluster for MUS81:

    MUS81 endonuclease homolog (S. cerevisiae)
    Hs.288798  [show with all ESTs]
    Unigene Representative Sequence: NM_025128
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000529857 ENST00000533035 ENST00000308110(uc001ofv.4) ENST00000525768
    ENST00000524647 ENST00000529374 ENST00000533555 ENST00000531905(uc001ofx.4)
    ENST00000530111 ENST00000530928 ENST00000525147 ENST00000525224 ENST00000529786
    ENST00000530282 ENST00000533519 ENST00000529742 ENST00000525006
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MUS81
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate MUS81:
    hsa-miR-345 hsa-miR-548d-3p
    SwitchGear 3'UTR luciferase reporter plasmidMUS81 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MUS81
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MUS81
    Clone
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    OriGene clones in human, mouse for MUS81 (see all 7)
    OriGene ORF clones in mouse, rat for MUS81
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MUS81 (NM_025128)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MUS81
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MUS81
    Sirion Biotech Customized lentivirus for stable overexpression of MUS81 
                         Customized lentivirus expression plasmids for stable overexpression of MUS81 
    Primer
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    OriGene qPCR primer pairs and template standards for MUS81
    OriGene qSTAR qPCR primer pairs in human, mouse for MUS81
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MUS81
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MUS81
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MUS81

    Additional mRNA sequence: 

    AF425646.1 AK024665.1 AK126820.1 AK223564.1 BC009999.2 

    23 DOTS entries:

    DT.100753361  DT.446431  DT.97843902  DT.100789120  DT.92469985  DT.75102765  DT.100760063  DT.95226196 
    DT.101984329  DT.120690202  DT.453509  DT.120690336  DT.100789119  DT.95226192  DT.120690144  DT.120690230 
    DT.100710960  DT.100789113  DT.100829169  DT.120690083  DT.95194773  DT.95226197  DT.120690081 

    24/183 AceView cDNA sequences (see all 183):

    CR601399 BI909656 AI708157 BM787599 AW081005 AA989261 AA310067 BQ007168 
    AI174987 CA428478 CR604400 AA361844 BP349348 BF940759 AW008546 AI004770 
    BM715429 BX376440 W46505 AI696162 BU626130 AL353934 AI444946 BF594519 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for MUS81 (see all 10)    About this scheme

    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:                                                                                                                                                            

    ExUns: 16b · 16c ^ 17 ^ 18a · 18b · 18c · 18d
    SP1:        -                                 
    SP2:                                          
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for MUS81

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MUS81 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGAAGATGC
    MUS81 Expression
    About this image


    See MUS81 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MUS81

    SOURCE GeneReport for Unigene cluster: Hs.288798

    UniProtKB/Swiss-Prot: MUS81_HUMAN, Q96NY9
    Tissue specificity: Widely expressed

        SABiosciences Expression via Pathway-Focused PCR Arrays including MUS81: 
              Telomeres & Telomerase in human mouse rat
              DNA Repair in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MUS81
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MUS81

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for MUS81 gene from 6/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mus811 , 5 MUS81 endonuclease homolog (yeast)1, 5 82.79(n)1
    82(a)1
      19 (4.34 cM)5
    717111  NM_027877.31  NP_082153.31 
     54823455 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.55722 Xenopus laevis transcribed sequence with weak similarity more 76.04(n)    BJ037176.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc26g012 Danio rerio cDNA clone MGC66489 IMAGE2601539, complete more 76.08(n)    BC055679.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mus811 , 3 CG3026-PA1 42(a)3
    51.2(n)1
    45(a)1
      1D23
    310441  NM_130517.21  NP_569873.11 
    worm
    (Caenorhabditis elegans)
    Secernentea mus-816
    Protein MUS-81, isoform a
    25(a)
    1 ↔ 1
    I(4265107-4267186)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MUS81(YDR386W)4
    MUS811
    Subunit of the structure-specific Mms4p-Mus81p endonuclease more4
    Mus81p1
    38.44(n)1
    31.05(a)1
      4(1246084-1247982)4
    8519941, 4  NP_010674.31  NP_010674.14 


    ENSEMBL Gene Tree for MUS81 (if available)
    TreeFam Gene Tree for MUS81 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MUS81 gene
    1 SIMAP similar gene for MUS81 using alignment to 9 protein entries:     MUS81_HUMAN (see all proteins):
    DKFZp761P1714

    MUS81 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/216 SNPs in MUS81 are shown (see all 216)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1474611401,2
    --65627865(+) CCTTCC/TTCTCG 1 -- us2k10--------
    rs1920011581,2
    --65627926(+) CCAGGC/TTCCGG 1 -- ut510--------
    rs1162083581,2
    C,F--65627946(+) AAGGGC/TGCGTC 1 -- ut511Minor allele frequency- T:0.05WA 118
    rs1836351031,2
    --65627979(+) CCAAGA/GGAAAA 1 -- ut510--------
    rs618938651,2
    C--65628007(+) CCCCTG/AACCAA 1 -- ut512Minor allele frequency- A:0.04NA 122
    rs798781031,2
    F--65628020(+) ACTTAG/TAGCAG 1 -- ut511Minor allele frequency- T:0.33NA 6
    rs138171,2,4
    C,F,A,H--65628334(+) CAGGCG/ACCGCA 2 /H /R mis123Minor allele frequency- A:0.45MN NS EA NA WA 2866
    rs2005866451,2
    C--65628398(+) CTGGCC/TAGGTC 1 -- int10--------
    rs1884816191,2
    C--65628641(+) CCTGGA/GAGCCC 1 -- int10--------
    rs1158535201,2
    C,F--65628717(+) CCTGAG/TCCTCC 1 -- int11Minor allele frequency- T:0.09WA 118

    HapMap Linkage Disequilibrium report for MUS81 (65624597 - 65635124 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for MUS81:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv897766CNV Loss21882294
    nsv897764CNV Loss21882294
    nsv897763CNV Loss21882294
    nsv832191CNV Loss17160897
    dgv1185n71CNV Loss21882294
    nsv897736CNV Loss21882294
    dgv393e1CNV Complex17122850

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606591    OMIM disorders: --

    11 diseases for MUS81:    About MalaCards
    mutagen sensitivity    bloom syndrome    laryngeal squamous cell carcinoma    fanconi's anemia
    laryngitis    osteoarthritis    anemia    multiple sclerosis
    squamous cell carcinoma    gastric cancer    breast cancer

    2 diseases from the University of Copenhagen DISEASES database for MUS81:
    Bloom syndrome     Fanconi's anemia

    MUS81 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MUS81
    Human Genome Epidemiology (HuGE) Navigator: MUS81 (7 documents)

    Export disorders for MUS81 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MUS81 gene, integrated from 9 sources (see all 55):
    (articles sorted by number of sources associating them with MUS81)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human Mus81-associated endonuclease cleaves Holliday junctions in vitro. (PubMed id 11741546)1, 2, 3, 9 Chen X.-B.... McGowan C.H. (2001)
    2. Holliday junction resolution in human cells: two junction endonucleases with distinct substrate specificities. (PubMed id 12374758)1, 2, 3, 9 Constantinou A....West S.C. (2002)
    3. Mus81 endonuclease localizes to nucleoli and to regions of DNA damage in human S-phase cells. (PubMed id 14638871)1, 2, 9 Gao H.... McGowan C.H. (2003)
    4. RNA interference inhibition of Mus81 reduces mitotic recombination in human cells. (PubMed id 14617801)1, 2, 9 Blais V.... McGowan C.H. (2004)
    5. BLM helicase facilitates Mus81 endonuclease activity in human cells. (PubMed id 15805243)1, 2, 9 Zhang R.... Harris C.C. (2005)
    6. Coordination of structure-specific nucleases by human SLX4/BTBD12 is required for DNA repair. (PubMed id 19595721)1, 2, 9 Munoz I.M.... Rouse J. (2009)
    7. Gamma-radiation sensitivity and polymorphisms in RAD5 1L1 modulate glioma risk. (PubMed id 20610542)1, 4 Liu Y....Bondy M.L. (2010)
    8. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PubMed id 20522537)1, 4 Briggs F.B....Barcellos L.F. (2010)
    9. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (2010)
    10. Genetic variation in genes interacting with BRCA1/2 a nd risk of breast cancer in the Cypriot population. (PubMed id 19714462)1, 4 Loizidou M.A....Kyriacou K. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 80198 HGNC: 29814 AceView: MUS81 Ensembl:ENSG00000172732 euGenes: HUgn80198
    ECgene: MUS81 Kegg: 80198 H-InvDB: MUS81

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MUS81 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MUS81 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MUS81 gene:
    Search GeneIP for patents involving MUS81

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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