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Aliases for EXO1 Gene

Aliases for EXO1 Gene

  • Exonuclease 1 2 3 5
  • Rad2 Nuclease Family Member, Homolog Of S. Cerevisiae Exonuclease 1 2 3
  • HExoI 3 4
  • HEX1 3 4
  • Exonuclease I 4
  • EC 3.1.-.- 4
  • HExo1 4
  • EXOI 4

External Ids for EXO1 Gene

Previous GeneCards Identifiers for EXO1 Gene

  • GC01P239985
  • GC01P237352
  • GC01P238308
  • GC01P239052
  • GC01P238338
  • GC01P240078
  • GC01P242011
  • GC01P212471

Summaries for EXO1 Gene

Entrez Gene Summary for EXO1 Gene

  • This gene encodes a protein with 5' to 3' exonuclease activity as well as an RNase H activity. It is similar to the Saccharomyces cerevisiae protein Exo1 which interacts with Msh2 and which is involved in mismatch repair and recombination. Alternative splicing of this gene results in three transcript variants encoding two different isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for EXO1 Gene

EXO1 (Exonuclease 1) is a Protein Coding gene. Diseases associated with EXO1 include Chilblain Lupus and Xeroderma Pigmentosum, Group G. Among its related pathways are Cell Cycle Checkpoints and Mismatch repair. GO annotations related to this gene include nuclease activity and RNA-DNA hybrid ribonuclease activity.

UniProtKB/Swiss-Prot for EXO1 Gene

  • 5->3 double-stranded DNA exonuclease which may also possess a cryptic 3->5 double-stranded DNA exonuclease activity. Functions in DNA mismatch repair (MMR) to excise mismatch-containing DNA tracts directed by strand breaks located either 5 or 3 to the mismatch. Also exhibits endonuclease activity against 5-overhanging flap structures similar to those generated by displacement synthesis when DNA polymerase encounters the 5-end of a downstream Okazaki fragment. Required for somatic hypermutation (SHM) and class switch recombination (CSR) of immunoglobulin genes. Essential for male and female meiosis.

Gene Wiki entry for EXO1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EXO1 Gene

Genomics for EXO1 Gene

Regulatory Elements for EXO1 Gene

Enhancers for EXO1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F241846 1.2 ENCODE 10.9 +0.3 338 2.7 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 EXO1 RPL23AP20
GH01F241837 1 Ensembl ENCODE 0.4 -9.6 -9565 1.9 STAT1 JUN CEBPB EP300 BRCA1 RFX5 JUND MAFF STAT3 RCOR1 WDR64 CHML GC01P241832 EXO1
GH01F241841 0.6 ENCODE 0.4 -5.4 -5422 1.5 ZNF121 MAFF GATA3 CTBP1 JUND SMARCA4 NFE2 FOS NFE2L2 EXO1 GC01P241832
GH01F241891 0.5 FANTOM5 0.2 +43.5 43546 0.2 POLR2H TFDP1 EGR2 KMO RPL23AP20 EXO1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EXO1 on UCSC Golden Path with GeneCards custom track

Promoters for EXO1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001530630 533 2201 HDGF PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1
ENSR00001756473 1933 200 ZBTB33

Genomic Location for EXO1 Gene

Chromosome:
1
Start:
241,847,967 bp from pter
End:
241,909,165 bp from pter
Size:
61,199 bases
Orientation:
Plus strand

Genomic View for EXO1 Gene

Genes around EXO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EXO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EXO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EXO1 Gene

Proteins for EXO1 Gene

  • Protein details for EXO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UQ84-EXO1_HUMAN
    Recommended name:
    Exonuclease 1
    Protein Accession:
    Q9UQ84
    Secondary Accessions:
    • O60545
    • O75214
    • O75466
    • Q5T396
    • Q96IJ1
    • Q9UG38
    • Q9UNW0

    Protein attributes for EXO1 Gene

    Size:
    846 amino acids
    Molecular mass:
    94103 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Interacts with the MLH1-PMS2 heterodimer via MLH1. Interacts with MSH3. Interacts with the MSH2-MSH6 heterodimer via MSH2, and this interaction may increase the processivity of the 5->3 exonuclease activity. Interacts with PCNA, and this interaction may both stimulate the cryptic 3->5 exonuclease activity and suppress the 5->3 exonuclease activity. Interacts with WRN, and this interaction stimulates both the 5->3 exonuclease activity and cleavage of 5-overhanging flap structures. Interacts with RECQL/RECQ1, and this interaction stimulates cleavage of 5-overhanging flap structures.
    SequenceCaution:
    • Sequence=AAC33874.1; Type=Frameshift; Positions=793; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EXO1 Gene

    Alternative splice isoforms for EXO1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EXO1 Gene

Post-translational modifications for EXO1 Gene

  • Phosphorylated upon DNA damage and in response to agents stalling DNA replication, probably by ATM or ATR. Phosphorylation at Ser-454, Thr-621 and Ser-714 is induced upon DNA-damage caused by treatment with hydroxyurea (HU) but not upon IR treatment. The HU-induced EXO1 triple phosphorylation facilitates destabilisation/degradation of the protein.
  • Ubiquitination at Lys 796
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for EXO1 Gene

Domains & Families for EXO1 Gene

Gene Families for EXO1 Gene

Suggested Antigen Peptide Sequences for EXO1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UQ84

UniProtKB/Swiss-Prot:

EXO1_HUMAN :
  • Belongs to the XPG/RAD2 endonuclease family. EXO1 subfamily.
Family:
  • Belongs to the XPG/RAD2 endonuclease family. EXO1 subfamily.
genes like me logo Genes that share domains with EXO1: view

Function for EXO1 Gene

Molecular function for EXO1 Gene

GENATLAS Biochemistry:
human exonuclease 1,94kDa,highly expressed in fetal liver and adult testis and bone marrow,homolog to S cereviae EXO1,(yeast RAD2 epistasis group) involved in recombination or mismatch repair by interacting with MSH2
UniProtKB/Swiss-Prot Function:
5->3 double-stranded DNA exonuclease which may also possess a cryptic 3->5 double-stranded DNA exonuclease activity. Functions in DNA mismatch repair (MMR) to excise mismatch-containing DNA tracts directed by strand breaks located either 5 or 3 to the mismatch. Also exhibits endonuclease activity against 5-overhanging flap structures similar to those generated by displacement synthesis when DNA polymerase encounters the 5-end of a downstream Okazaki fragment. Required for somatic hypermutation (SHM) and class switch recombination (CSR) of immunoglobulin genes. Essential for male and female meiosis.

Enzyme Numbers (IUBMB) for EXO1 Gene

Gene Ontology (GO) - Molecular Function for EXO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IDA,TAS 11842105
GO:0003682 chromatin binding IEA --
GO:0003824 catalytic activity IEA --
GO:0004518 nuclease activity IEA --
GO:0004519 endonuclease activity IEA --
genes like me logo Genes that share ontologies with EXO1: view
genes like me logo Genes that share phenotypes with EXO1: view

Animal Models for EXO1 Gene

MGI Knock Outs for EXO1:

Animal Model Products

  • Taconic Biosciences Mouse Models for EXO1

miRNA for EXO1 Gene

miRTarBase miRNAs that target EXO1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EXO1 Gene

Localization for EXO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EXO1 Gene

Nucleus. Note=Colocalizes with PCNA to discrete nuclear foci in S-phase.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EXO1 gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for EXO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 11429708
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with EXO1: view

Pathways & Interactions for EXO1 Gene

genes like me logo Genes that share pathways with EXO1: view

Pathways by source for EXO1 Gene

1 BioSystems pathway for EXO1 Gene
1 KEGG pathway for EXO1 Gene
1 Qiagen pathway for EXO1 Gene

SIGNOR curated interactions for EXO1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for EXO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000731 DNA synthesis involved in DNA repair TAS --
GO:0000732 strand displacement TAS --
GO:0002376 immune system process IEA --
GO:0002455 humoral immune response mediated by circulating immunoglobulin IEA --
GO:0006260 DNA replication TAS --
genes like me logo Genes that share ontologies with EXO1: view

Drugs & Compounds for EXO1 Gene

(3) Drugs for EXO1 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Capecitabine Approved, Investigational Pharma RNA processing inhibitor and thymidylate synthase inhibitor, F-pyrimidines 1296
Fluorouracil Approved Pharma RNA processing inhibitor and thymidylate synthase inhibitor 1791

(1) Additional Compounds for EXO1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with EXO1: view

Transcripts for EXO1 Gene

Unigene Clusters for EXO1 Gene

Exonuclease 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EXO1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17
SP1:
SP2: -
SP3: -
SP4:
SP5:
SP6: - - -
SP7: -
SP8: -
SP9:

Relevant External Links for EXO1 Gene

GeneLoc Exon Structure for
EXO1
ECgene alternative splicing isoforms for
EXO1

Expression for EXO1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EXO1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EXO1 Gene

This gene is overexpressed in Testis (x5.0).

Protein differential expression in normal tissues from HIPED for EXO1 Gene

This gene is overexpressed in Colon (36.5), Rectum (14.2), Esophagus (11.0), and Peripheral blood mononuclear cells (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EXO1 Gene



Protein tissue co-expression partners for EXO1 Gene

NURSA nuclear receptor signaling pathways regulating expression of EXO1 Gene:

EXO1

SOURCE GeneReport for Unigene cluster for EXO1 Gene:

Hs.498248

mRNA Expression by UniProt/SwissProt for EXO1 Gene:

Q9UQ84-EXO1_HUMAN
Tissue specificity: Highly expressed in bone marrow, testis and thymus. Expressed at lower levels in colon, lymph nodes, ovary, placenta, prostate, small intestine, spleen and stomach.
genes like me logo Genes that share expression patterns with EXO1: view

Orthologs for EXO1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for EXO1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EXO1 34 35
  • 99.41 (n)
cow
(Bos Taurus)
Mammalia EXO1 34 35
  • 86.56 (n)
dog
(Canis familiaris)
Mammalia EXO1 34 35
  • 85.18 (n)
rat
(Rattus norvegicus)
Mammalia Exo1 34
  • 79.05 (n)
mouse
(Mus musculus)
Mammalia Exo1 34 16 35
  • 77.55 (n)
oppossum
(Monodelphis domestica)
Mammalia EXO1 35
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EXO1 35
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves EXO1 34 35
  • 64.72 (n)
lizard
(Anolis carolinensis)
Reptilia EXO1 35
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487930 34
  • 60.04 (n)
Str.16924 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.489 34
zebrafish
(Danio rerio)
Actinopterygii exo1 34 35
  • 56.06 (n)
Dr.17858 34
fruit fly
(Drosophila melanogaster)
Insecta tos 36 35
  • 38 (a)
worm
(Caenorhabditis elegans)
Secernentea F45G2.3 36
  • 36 (a)
exo-1 35
  • 29 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DIN7 35
  • 33 (a)
OneToMany
EXO1 35 37
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 60 (a)
OneToOne
Species where no ortholog for EXO1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EXO1 Gene

ENSEMBL:
Gene Tree for EXO1 (if available)
TreeFam:
Gene Tree for EXO1 (if available)

Paralogs for EXO1 Gene

No data available for Paralogs for EXO1 Gene

Variants for EXO1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for EXO1 Gene

EXO1_HUMAN-Q9UQ84
Most naturally occurring variants in this protein are not associated with familial disposition to hereditary non-polyposis colorectal cancer (HNPCC) (PubMed:12517792). Furthermore, germline deletions involving this locus are not associated with clinically manifested colorectal tumors (PubMed:14623461).

Sequence variations from dbSNP and Humsavar for EXO1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1012113 -- 241,879,939(-) acctc(C/T)gcctc intron-variant
rs10157313 -- 241,875,793(+) gaatc(A/G)cttga intron-variant
rs1047840 -- 241,878,999(+) CTTTT(A/G)AGAGC reference, missense
rs10570422 -- 241,865,178(+) AGCAT(-/TA)TATAT intron-variant
rs10591886 -- 241,868,390(+) AAAAA(-/AAAAAAAAA)TTAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EXO1 Gene

Variant ID Type Subtype PubMed ID
nsv528015 CNV gain 19592680
nsv523554 CNV loss 19592680
nsv1008886 CNV gain 25217958
nsv1002309 CNV gain 25217958
nsv1002214 CNV gain 25217958
esv2762521 CNV loss 21179565
dgv16e55 CNV gain 17911159

Variation tolerance for EXO1 Gene

Residual Variation Intolerance Score: 91.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.68; 94.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EXO1 Gene

Human Gene Mutation Database (HGMD)
EXO1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EXO1

Disorders for EXO1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for EXO1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
chilblain lupus
  • lupus erythematosus, cutaneous
xeroderma pigmentosum, group g
  • xeroderma pigmentosum, group g/cockayne syndrome
werner syndrome
  • adult premature ageing syndrome
aicardi-goutieres syndrome 1, dominant and recessive
  • aicardi-goutieres syndrome
lynch syndrome
  • coca 1
- elite association - COSMIC cancer census association via MalaCards
Search EXO1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for EXO1

Genetic Association Database (GAD)
EXO1
Human Genome Epidemiology (HuGE) Navigator
EXO1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EXO1
genes like me logo Genes that share disorders with EXO1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EXO1 Gene

Publications for EXO1 Gene

  1. Single nucleotide polymorphisms in the EXO1 gene and risk of colorectal cancer in a Japanese population. (PMID: 15550454) Yamamoto H. … Shimizu K. (Carcinogenesis 2005) 3 4 22 46 64
  2. Hex1: a new human Rad2 nuclease family member with homology to yeast exonuclease 1. (PMID: 9685493) Wilson D.M. III … Lamerdin J.E. (Nucleic Acids Res. 1998) 2 3 4 22 64
  3. Human exonuclease I interacts with the mismatch repair protein hMSH2. (PMID: 9788596) Schmutte C. … Fishel R. (Cancer Res. 1998) 2 3 4 22 64
  4. Interaction of Exo1 genotypes and smoking habit in oral cancer in Taiwan. (PMID: 19515603) Tsai M.H. … Bau D.T. (Oral Oncol. 2009) 3 22 46 64
  5. Association of genetic polymorphisms of EXO1 gene with risk of breast cancer in Taiwan. (PMID: 19846925) Wang H.C. … Bau D.T. (Anticancer Res. 2009) 3 22 46 64

Products for EXO1 Gene

Sources for EXO1 Gene

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