MUS81
Structure-specific endonuclease subunit MUS81
Also known as: FLJ44872, MUS81_HUMAN, SLX3
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96NY9
- Gene
- MUS81
- Ensembl
- ENSG00000172732
- Chromosome
- 11
- Canonical length
- 551 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nucleoli fibrillar center
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
551 residues, UniProt reviewed canonical sequence.
>Q96NY9|MUS81
1 MAAPVRLGRK RPLPACPNPL FVRWLTEWRD EATRSRRRTR FVFQKALRSL RRYPLPLRSG
61 KEAKILQHFG DGLCRMLDER LQRHRTSGGD HAPDSPSGEN SPAPQGRLAE VQDSSMPVPA
121 QPKAGGSGSY WPARHSGARV ILLVLYREHL NPNGHHFLTK EELLQRCAQK SPRVAPGSAR
181 PWPALRSLLH RNLVLRTHQP ARYSLTPEGL ELAQKLAESE GLSLLNVGIG PKEPPGEETA
241 VPGAASAELA SEAGVQQQPL ELRPGEYRVL LCVDIGETRG GGHRPELLRE LQRLHVTHTV
301 RKLHVGDFVW VAQETNPRDP ANPGELVLDH IVERKRLDDL CSSIIDGRFR EQKFRLKRCG
361 LERRVYLVEE HGSVHNLSLP ESTLLQAVTN TQVIDGFFVK RTADIKESAA YLALLTRGLQ
421 RLYQGHTLRS RPWGTPGNPE SGAMTSPNPL CSLLTFSDFN AGAIKNKAQS VREVFARQLM
481 QVRGVSGEKA AALVDRYSTP ASLLAAYDAC ATPKEQETLL STIKCGRLQR NLGPALSRTL
541 SQLYCSYGPL TLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MUS81 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.38
- Highest tissue expression
- 36 nTPM
Expression across tissuesHPA
Tissue
- endometrium: 36 nTPM
- cervix: 31 nTPM
- colon: 31 nTPM
- fallopian tube: 30 nTPM
- blood vessel: 30 nTPM
- ovary: 29 nTPM
Single-cell type
- late spermatids: 263 nCPM
- early spermatids: 87 nCPM
- cardiomyocytes: 48 nCPM
- epicardial cells: 46 nCPM
- early primary spermatocytes: 37 nCPM
- enterocytes: 35 nCPM
Immune cell
- eosinophil: 28 nTPM
- basophil: 23 nTPM
- gdT-cell: 21 nTPM
- MAIT T-cell: 21 nTPM
- non-classical monocyte: 19 nTPM
- memory CD8 T-cell: 18 nTPM
Brain region
- white matter: 30 nTPM
- thalamus: 27 nTPM
- medulla oblongata: 27 nTPM
- cerebral cortex: 26 nTPM
- cerebellum: 25 nTPM
- pons: 25 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.99
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.06
- DepMap mean gene effect
- -0.32
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- DNA catabolic process
- DNA repair
- double-strand break repair
- double-strand break repair via break-induced replication
- mitotic intra-S DNA damage checkpoint signaling
- osteoblast proliferation
- replication fork processing
- resolution of meiotic recombination intermediates
- resolution of mitotic recombination intermediates
- response to intra-S DNA damage checkpoint signaling
- telomere maintenance
Molecular functions
- crossover junction DNA endonuclease activity
- DNA binding
- DNA endonuclease activity
- endonuclease activity
- metal ion binding
- 3'-flap endonuclease activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- ERCC4 domain
- Crossover junction endonuclease MUS81-like, HHH domain
- Restriction endonuclease type II-like
- DNA polymerase lambda lyase domain superfamily
- Winged helix-like DNA-binding domain superfamily
- EME1/EME2, C-terminal domain
- ERCC4 domain
- Helix-hairpin-helix domain
- EME1/MUS81, C-terminal
- Crossover junction endonuclease Mus81
- MUS81, XPF-like nuclease domain
- MUS81, winged helix domain
- Crossover junction endonuclease MUS81-like, winged helix domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MUS81 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MUS81 as an antibody target. Whether an autoantibody or antibody against MUS81 could matter depends on whether native MUS81 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MUS81 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label MUS81 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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