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EXO1 exonuclease 1 [ Homo sapiens (human) ]

Gene ID: 9156, updated on 3-Apr-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
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Genomic context

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Location:
1q43
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (241847986..241889939)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (241253764..241301952)
105.20220307 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. Construction and validation of a hypoxia-related risk signature identified EXO1 as a prognostic biomarker based on 12 genes in lung adenocarcinoma. Chen Q, et al. Aging (Albany NY), 2023 Mar 25. PMID 36971680, Free PMC Article
  2. A CRISPR-Cas9 screen identifies EXO1 as a formaldehyde resistance gene. Gao Y, et al. Nat Commun, 2023 Jan 24. PMID 36693839, Free PMC Article
  3. Upregulation of exonuclease 1 caused by homology-dependent repair confers cisplatin resistance to gastric cancer cells. Mao P, et al. Can J Physiol Pharmacol, 2022 Sep 1. PMID 35767882
  4. Bioinformatics Analysis and Experimental Study of Exonuclease 1 Gene in Lung Adenocarcinoma. Wang S, et al. Biochem Genet, 2022 Dec. PMID 35169964
  5. EXO1: A tightly regulated nuclease. Sertic S, et al. DNA Repair (Amst), 2020 Sep. PMID 33087266

See all (148) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. EXO1 protects BRCA1-deficient cells against toxic DNA lesions.
    Title: EXO1 protects BRCA1-deficient cells against toxic DNA lesions.
  2. EXO1/P53/SREBP1 axis-regulated lipid metabolism promotes prostate cancer progression.
    Title: EXO1/P53/SREBP1 axis-regulated lipid metabolism promotes prostate cancer progression.
  3. 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.
  4. PARylation of BRCA1 limits DNA break resection through BRCA2 and EXO1.
    Title: PARylation of BRCA1 limits DNA break resection through BRCA2 and EXO1.
  5. 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.
  6. 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.
  7. 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.
  8. A CRISPR-Cas9 screen identifies EXO1 as a formaldehyde resistance gene.
    Title: A CRISPR-Cas9 screen identifies EXO1 as a formaldehyde resistance gene.
  9. Bioinformatics Analysis and Experimental Study of Exonuclease 1 Gene in Lung Adenocarcinoma.
    Title: Bioinformatics Analysis and Experimental Study of Exonuclease 1 Gene in Lung Adenocarcinoma.
  10. The Roles of EXO1 and RPA1 Polymorphisms in Prognosis of Lung Cancer Patients Treated with Platinum-Based Chemotherapy.
    Title: The Roles of EXO1 and RPA1 Polymorphisms in Prognosis of Lung Cancer Patients Treated with Platinum-Based Chemotherapy.
Submit: New GeneRIF Correction See all GeneRIFs (93)

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)

Genotypes

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 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_2023_10

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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