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    EXO1 exonuclease 1 [ Homo sapiens (human) ]

    Gene ID: 9156, updated on 27-Nov-2024

    Summary

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    Official Symbol
    EXO1provided by HGNC
    Official Full Name
    exonuclease 1provided by HGNC
    Primary source
    HGNC:HGNC:3511
    See related
    Ensembl:ENSG00000174371 MIM:606063; AllianceGenome:HGNC:3511
    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
    HEX1; hExoI
    Summary
    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]
    Expression
    Biased expression in bone marrow (RPKM 3.9), testis (RPKM 2.9) and 13 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EXO1 in Genome Data Viewer
    Location:
    1q43
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (241847986..241889939)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (241253764..241301952)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (242011506..242053241)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373231 Neighboring gene ribosomal protein L6 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2829 Neighboring gene MPRA-validated peak797 silencer Neighboring gene MPRA-validated peak799 silencer Neighboring gene MPRA-validated peak800 silencer Neighboring gene MPRA-validated peak801 silencer Neighboring gene uncharacterized LOC124904604 Neighboring gene ribosomal protein L23a pseudogene 20

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Variation analysis of EXO1 gene in Chinese patients with premature ovarian failure. Su S, et al. Reprod Biomed Online, 2016 Mar. PMID 26774993
    2. Nuclear localization of human DNA mismatch repair protein exonuclease 1 (hEXO1). Knudsen NØ, et al. Nucleic Acids Res, 2007. PMID 17426132, Free PMC Article
    3. The human Exonuclease-1 interactome and phosphorylation sites. Eid W, et al. Biochem Biophys Res Commun, 2019 Jun 30. PMID 31056253
    4. Polymorphisms of the DNA repair gene EXO1 modulate cognitive aging in old adults in a Taiwanese population. Lin E, et al. DNA Repair (Amst), 2019 Jun. PMID 30928815
    5. EXO1 overexpression is associated with poor prognosis of hepatocellular carcinoma patients. Dai Y, et al. Cell Cycle, 2018. PMID 30328366, Free PMC Article

    See all (158) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cyclin F-EXO1 axis controls cell cycle-dependent execution of double-strand break repair.
      Title: Cyclin F-EXO1 axis controls cell cycle-dependent execution of double-strand break repair.
    2. EXO1 and DNA2-mediated ssDNA gap expansion is essential for ATR activation and to maintain viability in BRCA1-deficient cells.
      Title: EXO1 and DNA2-mediated ssDNA gap expansion is essential for ATR activation and to maintain viability in BRCA1-deficient cells.
    3. EXO1 protects BRCA1-deficient cells against toxic DNA lesions.
      Title: EXO1 protects BRCA1-deficient cells against toxic DNA lesions.
    4. EXO1/P53/SREBP1 axis-regulated lipid metabolism promotes prostate cancer progression.
      Title: EXO1/P53/SREBP1 axis-regulated lipid metabolism promotes prostate cancer progression.
    5. Dynamic regulation of EXO1 promotes the progression from liver fibrosis to HCC through TGF-beta1/Smad signaling feedback loop.
      Title: Dynamic regulation of EXO1 promotes the progression from liver fibrosis to HCC through TGF-β1/Smad signaling feedback loop.
    6. PARylation of BRCA1 limits DNA break resection through BRCA2 and EXO1.
      Title: PARylation of BRCA1 limits DNA break resection through BRCA2 and EXO1.
    7. MSH2-MSH3 promotes DNA end resection during homologous recombination and blocks polymerase theta-mediated end-joining through interaction with SMARCAD1 and EXO1.
      Title: MSH2-MSH3 promotes DNA end resection during homologous recombination and blocks polymerase theta-mediated end-joining through interaction with SMARCAD1 and EXO1.
    8. The FBXO32/ATR/ATM axis acts as a molecular switch to control the sensitivity of osteosarcoma cells to irradiation through its regulation of EXO1 expression.
      Title: The FBXO32/ATR/ATM axis acts as a molecular switch to control the sensitivity of osteosarcoma cells to irradiation through its regulation of EXO1 expression.
    9. Construction and validation of a hypoxia-related risk signature identified EXO1 as a prognostic biomarker based on 12 genes in lung adenocarcinoma.
      Title: Construction and validation of a hypoxia-related risk signature identified EXO1 as a prognostic biomarker based on 12 genes in lung adenocarcinoma.
    10. A CRISPR-Cas9 screen identifies EXO1 as a formaldehyde resistance gene.
      Title: A CRISPR-Cas9 screen identifies EXO1 as a formaldehyde resistance gene.
    Submit: New GeneRIF Correction See all GeneRIFs (95)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 5'-3' DNA exonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 5'-3' DNA exonuclease activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables 5'-3' exonuclease activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables 5'-3' exonuclease activity TAS
    Traceable Author Statement
    more info
    		  
    enables 5'-flap endonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA-DNA hybrid ribonuclease activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables chromatin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables double-stranded DNA 5'-3' DNA exonuclease activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables exonuclease activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables flap endonuclease activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables single-stranded DNA 5'-3' DNA exonuclease activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA recombination IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in DNA repair TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in DNA strand resection involved in replication fork processing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in humoral immune response mediated by circulating immunoglobulin IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in isotype switching IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in meiotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mismatch repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mismatch repair IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mismatch repair IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mismatch repair IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    involved_in mismatch repair ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in mismatch repair TAS
    Traceable Author Statement
    more info
    		  
    involved_in somatic hypermutation of immunoglobulin genes IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in t-circle formation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    exonuclease 1
    Names
    rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1

    NCBI Reference Sequences (RefSeq)

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    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_029100.2 RefSeqGene

      Range
      5014..46749
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001319224.2 → NP_001306153.1  exonuclease 1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is 1 aa shorter compared to isoform b.
      Source sequence(s)
      AK291291, AL365366, CA430743, DA479425
      UniProtKB/TrEMBL
      A8K5H6
      Conserved Domains (3) summary
      cd09908
      Location:213 → 289
      H3TH_EXO1; H3TH domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease
      cd09857
      Location:1 → 206
      PIN_EXO1; PIN domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs
      TIGR03674
      Location:1 → 308
      fen_arch; flap structure-specific endonuclease

    2. NM_003686.4 → NP_003677.4  exonuclease 1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 3' end of the coding region, resulting in a frameshift and use of an upstream stop codon, as compared to variant 1. It encodes isoform a, which is 43 aa shorter than isoform b.
      Source sequence(s)
      AL365366, BC007491, CA430743
      Consensus CDS
      CCDS44336.1
      UniProtKB/TrEMBL
      A8K5H6
      Related
      ENSP00000430251.1, ENST00000518483.5
      Conserved Domains (3) summary
      cd09908
      Location:213 → 289
      H3TH_EXO1; H3TH domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease
      cd09857
      Location:1 → 206
      PIN_EXO1; PIN domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs
      TIGR03674
      Location:1 → 308
      fen_arch; flap structure-specific endonuclease

    3. NM_006027.4 → NP_006018.4  exonuclease 1 isoform b

      See identical proteins and their annotated locations for NP_006018.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (b). Both variants 1 and 2 encode isoform b.
      Source sequence(s)
      AL365366, BC007491, CA430743
      Consensus CDS
      CCDS1620.1
      UniProtKB/Swiss-Prot
      O60545, O75214, O75466, Q5T396, Q96IJ1, Q9UG38, Q9UNW0, Q9UQ84
      UniProtKB/TrEMBL
      A8K5H6
      Related
      ENSP00000311873.5, ENST00000348581.9
      Conserved Domains (3) summary
      cd09908
      Location:213 → 289
      H3TH_EXO1; H3TH domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease
      cd09857
      Location:1 → 206
      PIN_EXO1; PIN domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs
      TIGR03674
      Location:1 → 308
      fen_arch; flap structure-specific endonuclease

    4. NM_130398.4 → NP_569082.2  exonuclease 1 isoform b

      See identical proteins and their annotated locations for NP_569082.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes a unique exon in its 5' UTR, as compared to variant 1. Both variants 1 and 2 encode isoform b.
      Source sequence(s)
      AL365366, BC007491, CA430743, CN348533, DA661516
      Consensus CDS
      CCDS1620.1
      UniProtKB/Swiss-Prot
      O60545, O75214, O75466, Q5T396, Q96IJ1, Q9UG38, Q9UNW0, Q9UQ84
      UniProtKB/TrEMBL
      A8K5H6
      Related
      ENSP00000355506.3, ENST00000366548.8
      Conserved Domains (3) summary
      cd09908
      Location:213 → 289
      H3TH_EXO1; H3TH domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease
      cd09857
      Location:1 → 206
      PIN_EXO1; PIN domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs
      TIGR03674
      Location:1 → 308
      fen_arch; flap structure-specific endonuclease

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      241847986..241889939
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434104.1 → XP_047290060.1  exonuclease 1 isoform X1

      UniProtKB/Swiss-Prot
      O60545, O75214, O75466, Q5T396, Q96IJ1, Q9UG38, Q9UNW0, Q9UQ84

    2. XM_047434112.1 → XP_047290068.1  exonuclease 1 isoform X2

    3. XM_047434106.1 → XP_047290062.1  exonuclease 1 isoform X1

      UniProtKB/Swiss-Prot
      O60545, O75214, O75466, Q5T396, Q96IJ1, Q9UG38, Q9UNW0, Q9UQ84

    4. XM_011544322.2 → XP_011542624.1  exonuclease 1 isoform X1

      See identical proteins and their annotated locations for XP_011542624.1

      UniProtKB/Swiss-Prot
      O60545, O75214, O75466, Q5T396, Q96IJ1, Q9UG38, Q9UNW0, Q9UQ84
      UniProtKB/TrEMBL
      A8K5H6
      Conserved Domains (3) summary
      cd09908
      Location:213 → 289
      H3TH_EXO1; H3TH domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease
      cd09857
      Location:1 → 206
      PIN_EXO1; PIN domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs
      TIGR03674
      Location:1 → 308
      fen_arch; flap structure-specific endonuclease

    5. XM_047434108.1 → XP_047290064.1  exonuclease 1 isoform X2

    6. XM_047434129.1 → XP_047290085.1  exonuclease 1 isoform X3

    7. XM_047434155.1 → XP_047290111.1  exonuclease 1 isoform X4

    8. XM_006711840.3 → XP_006711903.1  exonuclease 1 isoform X1

      See identical proteins and their annotated locations for XP_006711903.1

      UniProtKB/Swiss-Prot
      O60545, O75214, O75466, Q5T396, Q96IJ1, Q9UG38, Q9UNW0, Q9UQ84
      UniProtKB/TrEMBL
      A8K5H6
      Conserved Domains (3) summary
      cd09908
      Location:213 → 289
      H3TH_EXO1; H3TH domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease
      cd09857
      Location:1 → 206
      PIN_EXO1; PIN domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs
      TIGR03674
      Location:1 → 308
      fen_arch; flap structure-specific endonuclease

    9. XM_011544323.3 → XP_011542625.1  exonuclease 1 isoform X2

      See identical proteins and their annotated locations for XP_011542625.1

      UniProtKB/TrEMBL
      A8K5H6
      Conserved Domains (3) summary
      cd09908
      Location:213 → 289
      H3TH_EXO1; H3TH domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease
      cd09857
      Location:1 → 206
      PIN_EXO1; PIN domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs
      TIGR03674
      Location:1 → 308
      fen_arch; flap structure-specific endonuclease

    10. XM_011544324.3 → XP_011542626.1  exonuclease 1 isoform X3

      UniProtKB/TrEMBL
      A8K5H6
      Conserved Domains (3) summary
      cd09908
      Location:173 → 249
      H3TH_EXO1; H3TH domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease
      cd09857
      Location:1 → 166
      PIN_EXO1; PIN domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs
      TIGR03674
      Location:1 → 268
      fen_arch; flap structure-specific endonuclease

    11. XM_047434139.1 → XP_047290095.1  exonuclease 1 isoform X4

    12. XM_047434107.1 → XP_047290063.1  exonuclease 1 isoform X2

    13. XM_047434121.1 → XP_047290077.1  exonuclease 1 isoform X3

    14. XM_047434150.1 → XP_047290106.1  exonuclease 1 isoform X4

    15. XM_011544321.3 → XP_011542623.1  exonuclease 1 isoform X1

      See identical proteins and their annotated locations for XP_011542623.1

      UniProtKB/Swiss-Prot
      O60545, O75214, O75466, Q5T396, Q96IJ1, Q9UG38, Q9UNW0, Q9UQ84
      UniProtKB/TrEMBL
      A8K5H6
      Conserved Domains (3) summary
      cd09908
      Location:213 → 289
      H3TH_EXO1; H3TH domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease
      cd09857
      Location:1 → 206
      PIN_EXO1; PIN domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs
      TIGR03674
      Location:1 → 308
      fen_arch; flap structure-specific endonuclease

    16. XM_017002793.3 → XP_016858282.1  exonuclease 1 isoform X3

      UniProtKB/TrEMBL
      A8K5H6
      Conserved Domains (3) summary
      cd09908
      Location:173 → 249
      H3TH_EXO1; H3TH domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease
      cd09857
      Location:1 → 166
      PIN_EXO1; PIN domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs
      TIGR03674
      Location:1 → 268
      fen_arch; flap structure-specific endonuclease

    17. XM_047434130.1 → XP_047290086.1  exonuclease 1 isoform X4

    18. XM_011544325.2 → XP_011542627.1  exonuclease 1 isoform X5

    19. XM_047434160.1 → XP_047290116.1  exonuclease 1 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      241253764..241301952
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339575.1 → XP_054195550.1  exonuclease 1 isoform X1

    2. XM_054339581.1 → XP_054195556.1  exonuclease 1 isoform X2

    3. XM_054339577.1 → XP_054195552.1  exonuclease 1 isoform X1

    4. XM_054339576.1 → XP_054195551.1  exonuclease 1 isoform X1

    5. XM_054339580.1 → XP_054195555.1  exonuclease 1 isoform X2

    6. XM_054339585.1 → XP_054195560.1  exonuclease 1 isoform X3

    7. XM_054339589.1 → XP_054195564.1  exonuclease 1 isoform X4

    8. XM_054339573.1 → XP_054195548.1  exonuclease 1 isoform X1

    9. XM_054339578.1 → XP_054195553.1  exonuclease 1 isoform X2

    10. XM_054339583.1 → XP_054195558.1  exonuclease 1 isoform X3

    11. XM_054339587.1 → XP_054195562.1  exonuclease 1 isoform X4

    12. XM_054339579.1 → XP_054195554.1  exonuclease 1 isoform X2

    13. XM_054339584.1 → XP_054195559.1  exonuclease 1 isoform X3

    14. XM_054339588.1 → XP_054195563.1  exonuclease 1 isoform X4

    15. XM_054339574.1 → XP_054195549.1  exonuclease 1 isoform X1

    16. XM_054339582.1 → XP_054195557.1  exonuclease 1 isoform X3

    17. XM_054339586.1 → XP_054195561.1  exonuclease 1 isoform X4

    18. XM_054339590.1 → XP_054195565.1  exonuclease 1 isoform X5

    19. XM_054339591.1 → XP_054195566.1  exonuclease 1 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UQ84.2 GenPept UniProtKB/Swiss-Prot:Q9UQ84

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