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Protein

Crossover junction endonuclease MUS81

Gene

MUS81

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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. May be required in mitosis for the processing of stalled or collapsed replication forks.9 Publications

Cofactori

Mg2+1 Publication

GO - Molecular functioni

  • 3'-flap endonuclease activity Source: UniProtKB
  • DNA binding Source: InterPro
  • endodeoxyribonuclease activity Source: Reactome
  • metal ion binding Source: UniProtKB-KW

GO - Biological processi

Keywordsi

Molecular functionEndonuclease, Hydrolase, Nuclease
Biological processDNA damage, DNA recombination, DNA repair
LigandMagnesium, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-5693568 Resolution of D-loop Structures through Holliday Junction Intermediates
R-HSA-6783310 Fanconi Anemia Pathway

Names & Taxonomyi

Protein namesi
Recommended name:
Crossover junction endonuclease MUS81 (EC:3.1.22.-)
Gene namesi
Name:MUS81
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000172732.11
HGNCiHGNC:29814 MUS81
MIMi606591 gene
neXtProtiNX_Q96NY9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi306 – 307GD → AE: Loss of activity. 1 Publication2
Mutagenesisi333 – 334ER → AG: Loss of activity. 1 Publication2
Mutagenesisi338 – 339DD → AA: Loss of activity. 2 Publications2

Organism-specific databases

DisGeNETi80198
OpenTargetsiENSG00000172732
PharmGKBiPA134881809

Polymorphism and mutation databases

BioMutaiMUS81
DMDMi166898077

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001988581 – 551Crossover junction endonuclease MUS81Add BLAST551

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei95PhosphoserineCombined sources1
Modified residuei101PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96NY9
MaxQBiQ96NY9
PaxDbiQ96NY9
PeptideAtlasiQ96NY9
PRIDEiQ96NY9
ProteomicsDBi77579

PTM databases

iPTMnetiQ96NY9
PhosphoSitePlusiQ96NY9

Expressioni

Tissue specificityi

Widely expressed.

Developmental stagei

Expressed in S phase and G2 phase.1 Publication

Inductioni

Up-regulated in cells treated with agents that damage DNA or block replication. This up-regulation seems to be independent of transcription.1 Publication

Gene expression databases

BgeeiENSG00000172732 Expressed in 221 organ(s), highest expression level in myometrium
CleanExiHS_MUS81
ExpressionAtlasiQ96NY9 baseline and differential
GenevisibleiQ96NY9 HS

Organism-specific databases

HPAiHPA059530

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.10 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi123170, 81 interactors
ComplexPortaliCPX-511 Deoxyribonuclease complex MUS81-EME1
CPX-586 Deoxyribonuclease complex MUS81-EME2
CORUMiQ96NY9
DIPiDIP-48630N
IntActiQ96NY9, 12 interactors
MINTiQ96NY9
STRINGi9606.ENSP00000307853

Structurei

Secondary structure

1551
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ96NY9
SMRiQ96NY9
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ96NY9

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini270 – 372ERCC4Add BLAST103

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni125 – 244Interaction with BLM1 PublicationAdd BLAST120

Sequence similaritiesi

Belongs to the XPF family.Curated

Phylogenomic databases

eggNOGiKOG2379 Eukaryota
COG1948 LUCA
GeneTreeiENSGT00390000005498
HOGENOMiHOG000113699
HOVERGENiHBG052538
InParanoidiQ96NY9
KOiK08991
OMAiKCGRLQR
OrthoDBiEOG091G09T6
PhylomeDBiQ96NY9
TreeFamiTF315113

Family and domain databases

Gene3Di1.10.10.10, 1 hit
1.10.150.110, 1 hit
InterProiView protein in InterPro
IPR027421 DNA_pol_lamdba_lyase_dom_sf
IPR006166 ERCC4_domain
IPR011335 Restrct_endonuc-II-like
IPR036388 WH-like_DNA-bd_sf
PfamiView protein in Pfam
PF02732 ERCC4, 1 hit
SMARTiView protein in SMART
SM00891 ERCC4, 1 hit
SUPFAMiSSF47802 SSF47802, 1 hit
SSF52980 SSF52980, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 7 potential isoforms that are computationally mapped.iShow all

Q96NY9-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:551
Mass (Da):61,173
Last modified:February 5, 2008 - v3
Checksum:iD0F331CC2269D847
GO

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PRI1E9PRI1_HUMAN
Crossover junction endonuclease MUS...
MUS81
476Annotation score:
H0YDE3H0YDE3_HUMAN
Crossover junction endonuclease MUS...
MUS81
389Annotation score:
H0YDU2H0YDU2_HUMAN
Crossover junction endonuclease MUS...
MUS81
411Annotation score:
E9PII7E9PII7_HUMAN
Crossover junction endonuclease MUS...
MUS81
202Annotation score:
E9PL60E9PL60_HUMAN
Crossover junction endonuclease MUS...
MUS81
135Annotation score:
H0YDK3H0YDK3_HUMAN
Crossover junction endonuclease MUS...
MUS81
231Annotation score:
H0YE94H0YE94_HUMAN
Crossover junction endonuclease MUS...
MUS81
63Annotation score:

Sequence cautioni

The sequence BAB14953 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02534037R → H3 PublicationsCorresponds to variant dbSNP:rs13817Ensembl.1
Natural variantiVAR_061988115S → F. Corresponds to variant dbSNP:rs34381357Ensembl.1
Natural variantiVAR_038521180R → P3 PublicationsCorresponds to variant dbSNP:rs545500Ensembl.1
Natural variantiVAR_021990189L → F. Corresponds to variant dbSNP:rs2298447Ensembl.1
Natural variantiVAR_038522350R → W. Corresponds to variant dbSNP:rs34891773Ensembl.1
Natural variantiVAR_025341481Q → 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.
CCDSiCCDS8115.1
RefSeqiNP_079404.3, NM_025128.4
XP_011543572.1, XM_011545270.1
UniGeneiHs.288798

Genome annotation databases

EnsembliENST00000308110; ENSP00000307853; ENSG00000172732
GeneIDi80198
KEGGihsa:80198
UCSCiuc001ofv.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMUS81_HUMAN
AccessioniPrimary (citable) accession number: Q96NY9
Secondary accession number(s): Q9H7D9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: February 5, 2008
Last modified: September 12, 2018
This is version 154 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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