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Aliases for EXO1 Gene

Aliases for EXO1 Gene

  • Exonuclease 1 2 3 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 1 and Aicardi-Goutieres Syndrome. Among its related pathways are Gene Expression and Cell Cycle, Mitotic. Gene Ontology (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

Additional gene information for EXO1 Gene

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

Genomics for EXO1 Gene

GeneHancer (GH) Regulatory Elements for EXO1 Gene

Promoters and enhancers for EXO1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J241846 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 660.9 +0.3 337 2.7 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 EXO1 RPL23AP20
GH01J241837 Enhancer 0.6 ENCODE 0.4 -9.6 -9564 1.9 STAT1 JUN CEBPB EP300 BRCA1 RFX5 SP1 JUND MAFF STAT3 WDR64 CHML EXO1 GC01P241832
GH01J241891 Enhancer 0.3 FANTOM5 0.3 +43.5 43545 0.2 ZNF24 KMO RPL23AP20 EXO1
GH01J241841 Enhancer 0.2 ENCODE 0.4 -5.4 -5422 1.5 EXO1 GC01P241832
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EXO1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EXO1 gene promoter:
  • PPAR-alpha
  • ATF-2
  • Sp1
  • Zic3
  • LHX3b
  • Lhx3a
  • Tal-1
  • E47
  • JunD
  • PPAR-gamma1

Genomic Locations for EXO1 Gene

Genomic Locations for EXO1 Gene
chr1:241,847,967-241,909,165
(GRCh38/hg38)
Size:
61,199 bases
Orientation:
Plus strand
chr1:242,011,269-242,058,450
(GRCh37/hg19)
Size:
47,182 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 Lys796
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EXO1 Gene

Domains & Families for EXO1 Gene

Gene Families for EXO1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

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.
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

Enzyme Numbers (IUBMB) for EXO1 Gene

Phenotypes From GWAS Catalog 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

Clone Products

  • Addgene plasmids for EXO1

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EXO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 11429708
GO:0005654 nucleoplasm TAS --
GO:0005886 plasma membrane IDA --
GO:0016604 nuclear body 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 1402
Fluorouracil Approved Pharma RNA processing inhibitor and thymidylate synthase inhibitor 1970

(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:

Clone Products

  • Addgene plasmids for EXO1

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 CGAP 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, 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.

Evidence on tissue expression from TISSUES for EXO1 Gene

  • Skin(4.1)
genes like me logo Genes that share expression patterns with EXO1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for EXO1 Gene

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 33
  • 99.41 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EXO1 34 33
  • 86.56 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EXO1 34 33
  • 85.18 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Exo1 33
  • 79.05 (n)
mouse
(Mus musculus)
Mammalia Exo1 16 34 33
  • 77.55 (n)
oppossum
(Monodelphis domestica)
Mammalia EXO1 34
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EXO1 34
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves EXO1 34 33
  • 64.72 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EXO1 34
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487930 33
  • 60.04 (n)
Str.16924 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.489 33
zebrafish
(Danio rerio)
Actinopterygii exo1 34 33
  • 56.06 (n)
OneToOne
Dr.17858 33
fruit fly
(Drosophila melanogaster)
Insecta tos 34 35
  • 33 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F45G2.3 35
  • 36 (a)
exo-1 34
  • 29 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DIN7 34
  • 33 (a)
OneToMany
EXO1 36 34
  • 27 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for EXO1: view image

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 Variation AA Info Type
rs4150001 likely-benign, not specified 241,885,378(+) G/A coding_sequence_variant, missense_variant
rs1000197298 -- 241,847,739(+) G/T upstream_transcript_variant
rs1000214712 -- 241,853,728(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000283551 -- 241,878,392(+) G/T intron_variant
rs1000287789 -- 241,857,440(+) A/G coding_sequence_variant, genic_upstream_transcript_variant, missense_variant

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

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

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)

Additional Variant Information for EXO1 Gene

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

SNP Genotyping and Copy Number Assay Products

Disorders for EXO1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
chilblain lupus 1
  • chbl1
aicardi-goutieres syndrome
  • cree encephalitis
werner syndrome
  • wrn
lynch syndrome
  • colorectal cancer, hereditary nonpolyposis, type 1
xeroderma pigmentosum, complementation group g
  • xpg
- elite association - COSMIC cancer census association via MalaCards
Search EXO1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EXO1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 44 58
  2. Hex1: a new human Rad2 nuclease family member with homology to yeast exonuclease 1. (PMID: 9685493) Wilson DM … Lamerdin JE (Nucleic acids research 1998) 2 3 4 22 58
  3. Human exonuclease I interacts with the mismatch repair protein hMSH2. (PMID: 9788596) Schmutte C … Fishel R (Cancer research 1998) 2 3 4 22 58
  4. Single-nucleotide polymorphism of the Exo1 gene: association with gastric cancer susceptibility and interaction with smoking in Taiwan. (PMID: 20337148) Bau DT … Huang CY (The Chinese journal of physiology 2009) 3 22 44 58
  5. Association of genetic polymorphisms of EXO1 gene with risk of breast cancer in Taiwan. (PMID: 19846925) Wang HC … Bau DT (Anticancer research 2009) 3 22 44 58

Products for EXO1 Gene

Sources for EXO1 Gene

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