Format

Send to:

Choose Destination

MUS81 MUS81 structure-specific endonuclease subunit [ Homo sapiens (human) ]

Gene ID: 80198, updated on 6-Sep-2020

Summary

Official Symbol
MUS81provided by HGNC
Official Full Name
MUS81 structure-specific endonuclease subunitprovided by HGNC
Primary source
HGNC:HGNC:29814
See related
Ensembl:ENSG00000172732 MIM:606591
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SLX3
Summary
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]
Expression
Ubiquitous expression in spleen (RPKM 12.7), endometrium (RPKM 11.9) and 25 other tissues See more
Orthologs

Genomic context

See MUS81 in Genome Data Viewer
Location:
11q13.1
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (65860244..65867653)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65627872..65633914)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene OVOL1 antisense RNA 1 Neighboring gene ovo like transcriptional repressor 1 Neighboring gene sorting nexin 32 Neighboring gene cofilin 1 Neighboring gene EGF containing fibulin extracellular matrix protein 2 Neighboring gene cathepsin W Neighboring gene FGF1 intracellular binding protein Neighboring gene coiled-coil domain containing 85B

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
GeneReviews: Not available
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
GeneReviews: Not available

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of MUS81 endonuclease homolog (S. cerevisiae, MUS81) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Protein interactions

Protein Gene Interaction Pubs
Vpr vpr HIV-1 Vpr downregulates MUS81 and its cofactor EME1 by hijacking the host CRL4-DCAF1 E3 ubiquitin ligase; this does not correlate with Vpr-induced G2 cell cycle arrest PubMed
vpr HIV-1 Vpr R80A mutant demonstrates decreased or absent TNF production from MT4C5 cells suggesting that MUS81-Vpr interaction affects TNF production from HIV-1 infected cells PubMed
vpr HIV-1 Vpr-mediated cell cycle G2/M arrest requires human SLX4, MUS81, and EME1 proteins in cells PubMed
vpr HIV-1 Vpr mutants Q65R and R80A are deficient in G2 arrest induction, but degrade MUS81 to a similar degree as does wild-type Vpr, suggesting an independent G2-arrest pathway for Vpr-induced MUS81 degradation PubMed
vpr VPRBP is required for HIV-1 Vpr-mediated activation of the SLX4 complex and modulation of MUS81 levels. The interaction between Vpr and VPRBP is involved in MUS81 ubiquitination PubMed
vpr HIV-1 Vpr induces untimely activation of SLX4-associated MUS81-EME1 through phosphorylation of EME1 by PLK1 PubMed
vpr Co-immunoprecipitation and glycerol-gradient sedimentation demonstrate that HIV-1 Vpr, VPRBP, DDB1, SLX4, MUS81, EME1, ERCC1, and ERCC4 form a complex PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21012, FLJ44872

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3'-flap endonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
3'-flap endonuclease activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA catabolic process, endonucleolytic IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
double-strand break repair via break-induced replication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
interstrand cross-link repair TAS
Traceable Author Statement
more info
 
intra-S DNA damage checkpoint IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
osteoblast proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
resolution of meiotic recombination intermediates IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to intra-S DNA damage checkpoint signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Holliday junction resolvase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleolus IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
crossover junction endonuclease MUS81
Names
MUS81 endonuclease homolog
SLX3 structure-specific endonuclease subunit homolog
NP_001337212.1
NP_079404.3
XP_011543571.1
XP_011543572.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_053116.1 RefSeqGene

    Range
    5372..11378
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001350283.2NP_001337212.1  crossover junction endonuclease MUS81 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AK223564, BC009999, BI816797, CR989527, DA449863
    Conserved Domains (2) summary
    pfam02732
    Location:273416
    ERCC4; ERCC4 domain
    pfam14716
    Location:4379
    HHH_8; Helix-hairpin-helix domain
  2. NM_025128.5NP_079404.3  crossover junction endonuclease MUS81 isoform 2

    See identical proteins and their annotated locations for NP_079404.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AK223564, BC009999, BI816797, DA449863
    Consensus CDS
    CCDS8115.1
    UniProtKB/Swiss-Prot
    Q96NY9
    UniProtKB/TrEMBL
    Q53ES5
    Related
    ENSP00000307853.4, ENST00000308110.9
    Conserved Domains (2) summary
    COG1948
    Location:261515
    MUS81; ERCC4-type nuclease [Replication, recombination and repair]
    pfam02732
    Location:273415
    ERCC4; ERCC4 domain

RNA

  1. NR_146598.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses two alternate splice sites and has an alternate 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AP001201, AP001266, BI334628

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    65860244..65867653
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545269.1XP_011543571.1  crossover junction endonuclease MUS81 isoform X1

    See identical proteins and their annotated locations for XP_011543571.1

    Conserved Domains (2) summary
    pfam02732
    Location:273416
    ERCC4; ERCC4 domain
    pfam14716
    Location:4379
    HHH_8; Helix-hairpin-helix domain
  2. XM_011545270.1XP_011543572.1  crossover junction endonuclease MUS81 isoform X2

    See identical proteins and their annotated locations for XP_011543572.1

    UniProtKB/Swiss-Prot
    Q96NY9
    Related
    ENSP00000432287.1, ENST00000533035.5
    Conserved Domains (2) summary
    COG1948
    Location:261515
    MUS81; ERCC4-type nuclease [Replication, recombination and repair]
    pfam02732
    Location:273415
    ERCC4; ERCC4 domain

RNA

  1. XR_001747985.1 RNA Sequence

  2. XR_950067.2 RNA Sequence

  3. XR_001747986.1 RNA Sequence

  4. XR_247212.3 RNA Sequence

  5. XR_001747984.1 RNA Sequence

    Related
    ENST00000524647.5
Support Center