Human Gene MUS81 (ENST00000308110.9) from GENCODE V44
  Description: Homo sapiens MUS81 structure-specific endonuclease subunit (MUS81), transcript variant 3, non-coding RNA. (from RefSeq NR_146598)
RefSeq Summary (NM_025128): 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].
Gencode Transcript: ENST00000308110.9
Gencode Gene: ENSG00000172732.12
Transcript (Including UTRs)
   Position: hg38 chr11:65,860,433-65,866,439 Size: 6,007 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg38 chr11:65,860,754-65,866,052 Size: 5,299 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:65,860,433-65,866,439)mRNA (may differ from genome)Protein (551 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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-  Comments and Description Text from UniProtKB
  ID: MUS81_HUMAN
DESCRIPTION: RecName: Full=Crossover junction endonuclease MUS81; EC=3.1.22.-;
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.
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.
INTERACTION: Q96AY2:EME1; NbExp=4; IntAct=EBI-2370806, EBI-2370825; Q8IY92:SLX4; NbExp=8; IntAct=EBI-2370806, EBI-2370740;
SUBCELLULAR LOCATION: Nucleus, nucleolus. Note=Recruited to foci of DNA damage in S-phase cells.
TISSUE SPECIFICITY: Widely expressed.
DEVELOPMENTAL STAGE: Expressed in S phase and G2 phase.
INDUCTION: Up-regulated in cells treated with agents that damage DNA or block replication. This up-regulation seems to be independent of transcription.
SIMILARITY: Belongs to the XPF family.
SIMILARITY: Contains 1 ERCC4 domain.
SEQUENCE CAUTION: Sequence=BAB14953.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MUS81
Diseases sorted by gene-association score: fanconi anemia, complementation group a (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 31.08 RPKM in Uterus
Total median expression: 810.53 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -153.50321-0.478 Picture PostScript Text
3' UTR -104.40387-0.270 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR010996 - DNA-dir_DNA_pol_X_beta-like_N
IPR020819 - DNA_repair_nuc_XPF/helicase
IPR006166 - ERCC4_domain
IPR003583 - Hlx-hairpin-Hlx_DNA-bd_motif
IPR011335 - Restrct_endonuc-II-like

Pfam Domains:
PF02732 - ERCC4 domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2ZIX - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q96NY9
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsembl  
Protein SequenceProtein SequenceProtein SequenceProtein Sequence  
AlignmentAlignmentAlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0004518 nuclease activity
GO:0004519 endonuclease activity
GO:0004520 endodeoxyribonuclease activity
GO:0005515 protein binding
GO:0016787 hydrolase activity
GO:0046872 metal ion binding
GO:0048257 3'-flap endonuclease activity
GO:0008821 crossover junction endodeoxyribonuclease activity

Biological Process:
GO:0000712 resolution of meiotic recombination intermediates
GO:0000727 double-strand break repair via break-induced replication
GO:0000737 DNA catabolic process, endonucleolytic
GO:0006281 DNA repair
GO:0006310 DNA recombination
GO:0006974 cellular response to DNA damage stimulus
GO:0007095 mitotic G2 DNA damage checkpoint
GO:0031297 replication fork processing
GO:0031573 intra-S DNA damage checkpoint
GO:0036297 interstrand cross-link repair
GO:0072429 response to intra-S DNA damage checkpoint signaling

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0048476 Holliday junction resolvase complex


-  Descriptions from all associated GenBank mRNAs
  AK126820 - Homo sapiens cDNA FLJ44872 fis, clone BRAMY2022320, highly similar to Crossover junction endonuclease MUS81 (EC 3.1.22.-).
AK223564 - Homo sapiens mRNA for MUS81 endonuclease homolog, clone: FCC128B08.
BC009999 - Homo sapiens MUS81 endonuclease homolog (S. cerevisiae), mRNA (cDNA clone MGC:14953 IMAGE:4135990), complete cds.
JD541381 - Sequence 522405 from Patent EP1572962.
JD181088 - Sequence 162112 from Patent EP1572962.
JD461166 - Sequence 442190 from Patent EP1572962.
JD109148 - Sequence 90172 from Patent EP1572962.
JD453136 - Sequence 434160 from Patent EP1572962.
JD511319 - Sequence 492343 from Patent EP1572962.
JD392330 - Sequence 373354 from Patent EP1572962.
CU679561 - Synthetic construct Homo sapiens gateway clone IMAGE:100019845 5' read MUS81 mRNA.
KJ899618 - Synthetic construct Homo sapiens clone ccsbBroadEn_09012 MUS81 gene, encodes complete protein.
AF425646 - Homo sapiens MUS81 endonuclease (MUS81) mRNA, complete cds.
AK095326 - Homo sapiens cDNA FLJ38007 fis, clone CTONG2012447.
AK024665 - Homo sapiens cDNA: FLJ21012 fis, clone CAE05180.
JD057367 - Sequence 38391 from Patent EP1572962.
JD422409 - Sequence 403433 from Patent EP1572962.
AL353934 - Homo sapiens mRNA; cDNA DKFZp761P1714 (from clone DKFZp761P1714).
JD387443 - Sequence 368467 from Patent EP1572962.
JD120720 - Sequence 101744 from Patent EP1572962.
JD145871 - Sequence 126895 from Patent EP1572962.
JD404715 - Sequence 385739 from Patent EP1572962.
JD019212 - Sequence 236 from Patent EP1572962.
JD032914 - Sequence 13938 from Patent EP1572962.
JD492694 - Sequence 473718 from Patent EP1572962.
JD113791 - Sequence 94815 from Patent EP1572962.
JD021052 - Sequence 2076 from Patent EP1572962.
JD029172 - Sequence 10196 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa03440 - Homologous recombination

Reactome (by CSHL, EBI, and GO)

Protein Q96NY9 (Reactome details) participates in the following event(s):

R-HSA-5686430 MUS81 binds EME1, EME2
R-HSA-5686475 SLX1A:SLX4 binds MUS81:EME1,(MUS81:EME2)
R-HSA-6785732 DNA nucleases bind monoubiquitinated ID2 complex
R-HSA-5686440 MUS81:EME1,EME2 cleaves D-loop
R-HSA-5693584 Cleavage of Holliday junctions by GEN1 or SLX1A:SLX4:MUS81:EME1,(MUS81:EME2)
R-HSA-5693568 Resolution of D-loop Structures through Holliday Junction Intermediates
R-HSA-5693537 Resolution of D-Loop Structures
R-HSA-5685942 HDR through Homologous Recombination (HRR)
R-HSA-6783310 Fanconi Anemia Pathway
R-HSA-5693567 HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)
R-HSA-73894 DNA Repair
R-HSA-5693538 Homology Directed Repair
R-HSA-5693532 DNA Double-Strand Break Repair

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000308110.1, ENST00000308110.2, ENST00000308110.3, ENST00000308110.4, ENST00000308110.5, ENST00000308110.6, ENST00000308110.7, ENST00000308110.8, MUS81_HUMAN, NR_146598, Q96NY9, Q9H7D9, uc001ofv.1, uc001ofv.2, uc001ofv.3, uc001ofv.4, uc001ofv.5, uc001ofv.6
UCSC ID: ENST00000308110.9
RefSeq Accession: NM_025128
Protein: Q96NY9 (aka MUS81_HUMAN or MU81_HUMAN)
CCDS: CCDS8115.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.