UniProtKB - Q96NY9 (MUS81_HUMAN)
Crossover junction endonuclease MUS81
MUS81
Functioni
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. Plays an essential role in mitosis for the processing of stalled or collapsed replication forks (PubMed:28575661).
10 PublicationsCofactori
GO - Molecular functioni
- 3'-flap endonuclease activity Source: UniProtKB
- crossover junction endodeoxyribonuclease activity Source: InterPro
- DNA binding Source: InterPro
- metal ion binding Source: UniProtKB-KW
GO - Biological processi
- DNA catabolic process, endonucleolytic Source: MGI
- DNA repair Source: UniProtKB
- double-strand break repair Source: ComplexPortal
- double-strand break repair via break-induced replication Source: GO_Central
- mitotic intra-S DNA damage checkpoint signaling Source: GO_Central
- osteoblast proliferation Source: CACAO
- replication fork processing Source: ComplexPortal
- resolution of meiotic recombination intermediates Source: GO_Central
- response to intra-S DNA damage checkpoint signaling Source: MGI
Keywordsi
Molecular function | Endonuclease, Hydrolase, Nuclease |
Biological process | DNA damage, DNA recombination, DNA repair |
Ligand | Magnesium, Metal-binding |
Enzyme and pathway databases
BRENDAi | 3.1.22.4, 2681 |
PathwayCommonsi | Q96NY9 |
Reactomei | R-HSA-5693568, Resolution of D-loop Structures through Holliday Junction Intermediates R-HSA-6783310, Fanconi Anemia Pathway |
SignaLinki | Q96NY9 |
Names & Taxonomyi
Protein namesi | |
Gene namesi | Name:MUS81 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:29814, MUS81 |
MIMi | 606591, gene |
neXtProti | NX_Q96NY9 |
VEuPathDBi | HostDB:ENSG00000172732 |
Subcellular locationi
Nucleus
- nucleolus 4 Publications
Note: Recruited to foci of DNA damage in S-phase cells.
Nucleus
- nuclear replication fork Source: ComplexPortal
- nucleolus Source: UniProtKB-SubCell
- nucleoplasm Source: Reactome
- nucleus Source: GO_Central
Other locations
- endodeoxyribonuclease complex Source: ComplexPortal
- Holliday junction resolvase complex Source: GO_Central
Keywords - Cellular componenti
NucleusPathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 306 – 307 | GD → AE: Loss of activity. 1 Publication | 2 | |
Mutagenesisi | 333 – 334 | ER → AG: Loss of activity. 1 Publication | 2 | |
Mutagenesisi | 338 – 339 | DD → AA: Loss of activity. 2 Publications | 2 |
Organism-specific databases
DisGeNETi | 80198 |
MalaCardsi | MUS81 |
OpenTargetsi | ENSG00000172732 |
PharmGKBi | PA134881809 |
Miscellaneous databases
Pharosi | Q96NY9, Tbio |
Genetic variation databases
BioMutai | MUS81 |
DMDMi | 166898077 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000198858 | 1 – 551 | Crossover junction endonuclease MUS81Add BLAST | 551 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 95 | PhosphoserineCombined sources | 1 | |
Modified residuei | 101 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q96NY9 |
jPOSTi | Q96NY9 |
MassIVEi | Q96NY9 |
MaxQBi | Q96NY9 |
PaxDbi | Q96NY9 |
PeptideAtlasi | Q96NY9 |
PRIDEi | Q96NY9 |
ProteomicsDBi | 77579 |
PTM databases
iPTMneti | Q96NY9 |
PhosphoSitePlusi | Q96NY9 |
Expressioni
Tissue specificityi
Developmental stagei
Inductioni
Gene expression databases
Bgeei | ENSG00000172732, Expressed in body of uterus and 235 other tissues |
ExpressionAtlasi | Q96NY9, baseline and differential |
Genevisiblei | Q96NY9, HS |
Organism-specific databases
HPAi | ENSG00000172732, Low tissue specificity |
Interactioni
Subunit structurei
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.
Interacts with RECQL5; this interaction stimulates mitotic DNA synthesis (PubMed:28575661).
11 PublicationsBinary interactionsi
Q96NY9
With | #Exp. | IntAct |
---|---|---|
EME1 [Q96AY2] | 9 | EBI-2370806,EBI-2370825 |
EME2 [A4GXA9] | 3 | EBI-2370806,EBI-7838486 |
FEN1 [P39748] | 5 | EBI-2370806,EBI-707816 |
SLX4 [Q8IY92] | 13 | EBI-2370806,EBI-2370740 |
Protein-protein interaction databases
BioGRIDi | 123170, 107 interactors |
ComplexPortali | CPX-511, Deoxyribonuclease complex MUS81-EME1 CPX-586, Deoxyribonuclease complex MUS81-EME2 |
CORUMi | Q96NY9 |
DIPi | DIP-48630N |
IntActi | Q96NY9, 16 interactors |
MINTi | Q96NY9 |
STRINGi | 9606.ENSP00000307853 |
Miscellaneous databases
RNActi | Q96NY9, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | Q96NY9 |
BMRBi | Q96NY9 |
SMRi | Q96NY9 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q96NY9 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 270 – 372 | ERCC4Add BLAST | 103 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 84 – 130 | DisorderedSequence analysisAdd BLAST | 47 | |
Regioni | 125 – 244 | Interaction with BLM1 PublicationAdd BLAST | 120 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG2379, Eukaryota |
GeneTreei | ENSGT00390000005498 |
HOGENOMi | CLU_014329_3_0_1 |
InParanoidi | Q96NY9 |
OMAi | WIKEWLD |
OrthoDBi | 738810at2759 |
PhylomeDBi | Q96NY9 |
TreeFami | TF315113 |
Family and domain databases
Gene3Di | 1.10.10.10, 1 hit 1.10.150.110, 1 hit 1.10.150.670, 1 hit |
IDEALi | IID00098 |
InterProi | View protein in InterPro IPR027421, DNA_pol_lamdba_lyase_dom_sf IPR042530, EME1/EME2_C IPR006166, ERCC4_domain IPR033309, Mus81 IPR011335, Restrct_endonuc-II-like IPR036388, WH-like_DNA-bd_sf |
PANTHERi | PTHR13451, PTHR13451, 1 hit |
Pfami | View protein in Pfam PF02732, ERCC4, 1 hit |
SMARTi | View protein in SMART SM00891, ERCC4, 1 hit |
SUPFAMi | SSF47802, SSF47802, 1 hit SSF52980, SSF52980, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 7 potential isoforms that are computationally mapped.Show allAlign All
10 20 30 40 50
MAAPVRLGRK RPLPACPNPL FVRWLTEWRD EATRSRRRTR FVFQKALRSL
60 70 80 90 100
RRYPLPLRSG KEAKILQHFG DGLCRMLDER LQRHRTSGGD HAPDSPSGEN
110 120 130 140 150
SPAPQGRLAE VQDSSMPVPA QPKAGGSGSY WPARHSGARV ILLVLYREHL
160 170 180 190 200
NPNGHHFLTK EELLQRCAQK SPRVAPGSAR PWPALRSLLH RNLVLRTHQP
210 220 230 240 250
ARYSLTPEGL ELAQKLAESE GLSLLNVGIG PKEPPGEETA VPGAASAELA
260 270 280 290 300
SEAGVQQQPL ELRPGEYRVL LCVDIGETRG GGHRPELLRE LQRLHVTHTV
310 320 330 340 350
RKLHVGDFVW VAQETNPRDP ANPGELVLDH IVERKRLDDL CSSIIDGRFR
360 370 380 390 400
EQKFRLKRCG LERRVYLVEE HGSVHNLSLP ESTLLQAVTN TQVIDGFFVK
410 420 430 440 450
RTADIKESAA YLALLTRGLQ RLYQGHTLRS RPWGTPGNPE SGAMTSPNPL
460 470 480 490 500
CSLLTFSDFN AGAIKNKAQS VREVFARQLM QVRGVSGEKA AALVDRYSTP
510 520 530 540 550
ASLLAAYDAC ATPKEQETLL STIKCGRLQR NLGPALSRTL SQLYCSYGPL
T
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE9PRI1 | E9PRI1_HUMAN | Crossover junction endonuclease MUS... | MUS81 | 476 | Annotation score: | ||
H0YDU2 | H0YDU2_HUMAN | Crossover junction endonuclease MUS... | MUS81 | 411 | Annotation score: | ||
H0YDE3 | H0YDE3_HUMAN | Crossover junction endonuclease MUS... | MUS81 | 389 | Annotation score: | ||
E9PII7 | E9PII7_HUMAN | Crossover junction endonuclease MUS... | MUS81 | 202 | Annotation score: | ||
H0YDK3 | H0YDK3_HUMAN | Crossover junction endonuclease MUS... | MUS81 | 231 | Annotation score: | ||
H0YE94 | H0YE94_HUMAN | Crossover junction endonuclease MUS... | MUS81 | 63 | Annotation score: | ||
E9PL60 | E9PL60_HUMAN | Crossover junction endonuclease MUS... | MUS81 | 135 | Annotation score: |
Sequence cautioni
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_025340 | 37 | R → H3 PublicationsCorresponds to variant dbSNP:rs13817Ensembl. | 1 | |
Natural variantiVAR_061988 | 115 | S → F. Corresponds to variant dbSNP:rs34381357Ensembl. | 1 | |
Natural variantiVAR_038521 | 180 | R → P3 PublicationsCorresponds to variant dbSNP:rs545500Ensembl. | 1 | |
Natural variantiVAR_021990 | 189 | L → F. Corresponds to variant dbSNP:rs2298447Ensembl. | 1 | |
Natural variantiVAR_038522 | 350 | R → W. Corresponds to variant dbSNP:rs34891773Ensembl. | 1 | |
Natural variantiVAR_025341 | 481 | Q → H. Corresponds to variant dbSNP:rs765593Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF425646 mRNA Translation: AAL28065.1 BC009999 mRNA Translation: AAH09999.2 AK024665 mRNA Translation: BAB14953.1 Different initiation. |
CCDSi | CCDS8115.1 |
RefSeqi | NP_079404.3, NM_025128.4 XP_011543572.1, XM_011545270.1 |
Genome annotation databases
Ensembli | ENST00000308110.9; ENSP00000307853.4; ENSG00000172732.12 |
GeneIDi | 80198 |
KEGGi | hsa:80198 |
MANE-Selecti | ENST00000308110.9; ENSP00000307853.4; NM_025128.5; NP_079404.3 |
UCSCi | uc001ofv.5, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF425646 mRNA Translation: AAL28065.1 BC009999 mRNA Translation: AAH09999.2 AK024665 mRNA Translation: BAB14953.1 Different initiation. |
CCDSi | CCDS8115.1 |
RefSeqi | NP_079404.3, NM_025128.4 XP_011543572.1, XM_011545270.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2MC3 | NMR | - | A | 127-230 | [»] | |
2ZIX | X-ray | 3.50 | A | 246-551 | [»] | |
4P0P | X-ray | 2.80 | A | 246-551 | [»] | |
4P0Q | X-ray | 2.85 | A | 246-551 | [»] | |
4P0R | X-ray | 6.50 | A/C | 246-551 | [»] | |
4P0S | X-ray | 6.00 | A/C/E/G | 246-551 | [»] | |
6VWB | NMR | - | A | 2-90 | [»] | |
7BU5 | X-ray | 1.80 | A | 2-99 | [»] | |
AlphaFoldDBi | Q96NY9 | |||||
BMRBi | Q96NY9 | |||||
SMRi | Q96NY9 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 123170, 107 interactors |
ComplexPortali | CPX-511, Deoxyribonuclease complex MUS81-EME1 CPX-586, Deoxyribonuclease complex MUS81-EME2 |
CORUMi | Q96NY9 |
DIPi | DIP-48630N |
IntActi | Q96NY9, 16 interactors |
MINTi | Q96NY9 |
STRINGi | 9606.ENSP00000307853 |
PTM databases
iPTMneti | Q96NY9 |
PhosphoSitePlusi | Q96NY9 |
Genetic variation databases
BioMutai | MUS81 |
DMDMi | 166898077 |
Proteomic databases
EPDi | Q96NY9 |
jPOSTi | Q96NY9 |
MassIVEi | Q96NY9 |
MaxQBi | Q96NY9 |
PaxDbi | Q96NY9 |
PeptideAtlasi | Q96NY9 |
PRIDEi | Q96NY9 |
ProteomicsDBi | 77579 |
Protocols and materials databases
Antibodypediai | 16020, 194 antibodies from 25 providers |
DNASUi | 80198 |
Genome annotation databases
Ensembli | ENST00000308110.9; ENSP00000307853.4; ENSG00000172732.12 |
GeneIDi | 80198 |
KEGGi | hsa:80198 |
MANE-Selecti | ENST00000308110.9; ENSP00000307853.4; NM_025128.5; NP_079404.3 |
UCSCi | uc001ofv.5, human |
Organism-specific databases
CTDi | 80198 |
DisGeNETi | 80198 |
GeneCardsi | MUS81 |
HGNCi | HGNC:29814, MUS81 |
HPAi | ENSG00000172732, Low tissue specificity |
MalaCardsi | MUS81 |
MIMi | 606591, gene |
neXtProti | NX_Q96NY9 |
OpenTargetsi | ENSG00000172732 |
PharmGKBi | PA134881809 |
VEuPathDBi | HostDB:ENSG00000172732 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2379, Eukaryota |
GeneTreei | ENSGT00390000005498 |
HOGENOMi | CLU_014329_3_0_1 |
InParanoidi | Q96NY9 |
OMAi | WIKEWLD |
OrthoDBi | 738810at2759 |
PhylomeDBi | Q96NY9 |
TreeFami | TF315113 |
Enzyme and pathway databases
BRENDAi | 3.1.22.4, 2681 |
PathwayCommonsi | Q96NY9 |
Reactomei | R-HSA-5693568, Resolution of D-loop Structures through Holliday Junction Intermediates R-HSA-6783310, Fanconi Anemia Pathway |
SignaLinki | Q96NY9 |
Miscellaneous databases
BioGRID-ORCSi | 80198, 67 hits in 1082 CRISPR screens |
ChiTaRSi | MUS81, human |
EvolutionaryTracei | Q96NY9 |
GeneWikii | MUS81 |
GenomeRNAii | 80198 |
Pharosi | Q96NY9, Tbio |
PROi | PR:Q96NY9 |
RNActi | Q96NY9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000172732, Expressed in body of uterus and 235 other tissues |
ExpressionAtlasi | Q96NY9, baseline and differential |
Genevisiblei | Q96NY9, HS |
Family and domain databases
Gene3Di | 1.10.10.10, 1 hit 1.10.150.110, 1 hit 1.10.150.670, 1 hit |
IDEALi | IID00098 |
InterProi | View protein in InterPro IPR027421, DNA_pol_lamdba_lyase_dom_sf IPR042530, EME1/EME2_C IPR006166, ERCC4_domain IPR033309, Mus81 IPR011335, Restrct_endonuc-II-like IPR036388, WH-like_DNA-bd_sf |
PANTHERi | PTHR13451, PTHR13451, 1 hit |
Pfami | View protein in Pfam PF02732, ERCC4, 1 hit |
SMARTi | View protein in SMART SM00891, ERCC4, 1 hit |
SUPFAMi | SSF47802, SSF47802, 1 hit SSF52980, SSF52980, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | MUS81_HUMAN | |
Accessioni | Q96NY9Primary (citable) accession number: Q96NY9 Secondary accession number(s): Q9H7D9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 13, 2004 |
Last sequence update: | February 5, 2008 | |
Last modified: | May 25, 2022 | |
This is version 174 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families