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    EXO5 exonuclease 5 [ Homo sapiens (human) ]

    Gene ID: 64789, updated on 5-Mar-2024

    Summary

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    Official Symbol
    EXO5provided by HGNC
    Official Full Name
    exonuclease 5provided by HGNC
    Primary source
    HGNC:HGNC:26115
    See related
    Ensembl:ENSG00000164002 MIM:618601; AllianceGenome:HGNC:26115
    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
    DEM1; Exo V; hExo5; C1orf176
    Summary
    The protein encoded by this gene is a single-stranded DNA (ssDNA)-specific exonuclease that can slide along the DNA before cutting it. However, human replication protein A binds ssDNA and restricts sliding of the encoded protein, providing a 5'-directionality to the enzyme. This protein localizes to nuclear repair loci after DNA damage. [provided by RefSeq, Nov 2016]
    Expression
    Ubiquitous expression in lymph node (RPKM 2.5), appendix (RPKM 2.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1p34.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (40508767..40516038)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (40377905..40385218)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (40974439..40981710)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 728 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:40916242-40917441 Neighboring gene ZFP69 zinc finger protein B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 729 Neighboring gene ZFP69 zinc finger protein Neighboring gene EXO5 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 846 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 847 Neighboring gene uncharacterized LOC124904149 Neighboring gene Sharpr-MPRA regulatory region 98 Neighboring gene zinc finger protein 684

    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. Functional deficiency of DNA repair gene EXO5 results in androgen-induced genomic instability and prostate tumorigenesis. Ali S, et al. Oncogene, 2020 Feb. PMID 31616062, Free PMC Article
    2. Whole exome sequencing identifies PLEC, EXO5 and DNAH7 as novel susceptibility genes in testicular cancer. Paumard-Hernández B, et al. Int J Cancer, 2018 Oct 15. PMID 29761480
    3. EXO5-DNA structure and BLM interactions direct DNA resection critical for ATR-dependent replication restart. Hambarde S, et al. Mol Cell, 2021 Jul 15. PMID 34197737, Free PMC Article
    4. Human exonuclease 5 is a novel sliding exonuclease required for genome stability. Sparks JL, et al. J Biol Chem, 2012 Dec 14. PMID 23095756, Free PMC Article
    5. Identification of a large set of rare complete human knockouts. Sulem P, et al. Nat Genet, 2015 May. PMID 25807282

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. EXO5-DNA structure and BLM interactions direct DNA resection critical for ATR-dependent replication restart.
      Title: EXO5-DNA structure and BLM interactions direct DNA resection critical for ATR-dependent replication restart.
    2. Functional deficiency of DNA repair gene EXO5 results in androgen-induced genomic instability and prostate tumorigenesis.
      Title: Functional deficiency of DNA repair gene EXO5 results in androgen-induced genomic instability and prostate tumorigenesis.
    3. Three of them [PLEC (OR = 6.28, p = 6.42 x 10(-23) ) (p.Arg2016Trp), EXO5 (OR = 3.37, p = 4.82 x 10(-09) ) (p.Arg344AlafsTer10) and DNAH7 (OR = 1.64, p = 0.048)] were replicated as potential candidates.
      Title: Whole exome sequencing identifies PLEC, EXO5 and DNAH7 as novel susceptibility genes in testicular cancer.
    4. The human homolog (C1orf176; EXO5) that functions in the repair of nuclear DNA damage.
      Title: Human exonuclease 5 is a novel sliding exonuclease required for genome stability.
    Submit: New GeneRIF Correction

    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

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-02-02)

    ClinGen Genome Curation Page
    Haploinsufficency

    Dosage sensitivity unlikely (Last evaluated 2021-02-02)

    ClinGen Genome Curation PagePubMed

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ11445, FLJ13183, FLJ21144

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 4 iron, 4 sulfur cluster binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables single-stranded DNA 3'-5' DNA exonuclease activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables single-stranded DNA 5'-3' DNA exonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables single-stranded DNA 5'-3' DNA exonuclease activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in interstrand cross-link repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in interstrand cross-link repair IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    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 

    General protein information

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    Preferred Names
    exonuclease V
    Names
    defects in morphology 1 homolog
    defects in morphology protein 1 homolog
    probable exonuclease V

    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.

    mRNA and Protein(s)

    1. NM_001346946.2 → NP_001333875.1  exonuclease V

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. All variants encode the same protein.
      Source sequence(s)
      AK024797, BP376962, CA419097, DA705199
      Consensus CDS
      CCDS453.1
      UniProtKB/Swiss-Prot
      D3DPV4, Q5SWM7, Q5SWM8, Q5SWM9, Q5SWN0, Q5SWN1, Q8WTW9, Q9H790

    2. NM_001346947.2 → NP_001333876.1  exonuclease V

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All variants encode the same protein.
      Source sequence(s)
      AK024797, CA419097, DA070927
      Consensus CDS
      CCDS453.1
      UniProtKB/Swiss-Prot
      D3DPV4, Q5SWM7, Q5SWM8, Q5SWM9, Q5SWN0, Q5SWN1, Q8WTW9, Q9H790
      Related
      ENSP00000508270.1, ENST00000682383.1

    3. NM_001346948.2 → NP_001333877.1  exonuclease V

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All variants encode the same protein.
      Source sequence(s)
      AK024797, CA419097, DA630059
      Consensus CDS
      CCDS453.1
      UniProtKB/Swiss-Prot
      D3DPV4, Q5SWM7, Q5SWM8, Q5SWM9, Q5SWN0, Q5SWN1, Q8WTW9, Q9H790
      Related
      ENSP00000391240.2, ENST00000418186.2

    4. NM_001346949.2 → NP_001333878.1  exonuclease V

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. All variants encode the same protein.
      Source sequence(s)
      AL603839, BC021969, CA419097, DA705199
      Consensus CDS
      CCDS453.1
      UniProtKB/Swiss-Prot
      D3DPV4, Q5SWM7, Q5SWM8, Q5SWM9, Q5SWN0, Q5SWN1, Q8WTW9, Q9H790
      Related
      ENSP00000351328.2, ENST00000358527.6

    5. NM_001346950.2 → NP_001333879.1  exonuclease V

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. All variants encode the same protein.
      Source sequence(s)
      AK024797, AL603839, CA419097, DA270855, DA705199
      Consensus CDS
      CCDS453.1
      UniProtKB/Swiss-Prot
      D3DPV4, Q5SWM7, Q5SWM8, Q5SWM9, Q5SWN0, Q5SWN1, Q8WTW9, Q9H790
      Related
      ENSP00000416857.2, ENST00000432259.6

    6. NM_001346951.2 → NP_001333880.1  exonuclease V

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. All variants encode the same protein.
      Source sequence(s)
      AL603839
      Consensus CDS
      CCDS453.1
      UniProtKB/Swiss-Prot
      D3DPV4, Q5SWM7, Q5SWM8, Q5SWM9, Q5SWN0, Q5SWN1, Q8WTW9, Q9H790
      Related
      ENSP00000409715.2, ENST00000443729.6

    7. NM_001346952.2 → NP_001333881.1  exonuclease V

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 1. All variants encode the same protein.
      Source sequence(s)
      AL603839
      Consensus CDS
      CCDS453.1
      UniProtKB/Swiss-Prot
      D3DPV4, Q5SWM7, Q5SWM8, Q5SWM9, Q5SWN0, Q5SWN1, Q8WTW9, Q9H790

    8. NM_001346953.2 → NP_001333882.1  exonuclease V

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR compared to variant 1. All variants encode the same protein.
      Source sequence(s)
      AL603839
      Consensus CDS
      CCDS453.1
      UniProtKB/Swiss-Prot
      D3DPV4, Q5SWM7, Q5SWM8, Q5SWM9, Q5SWN0, Q5SWN1, Q8WTW9, Q9H790
      Related
      ENSP00000413565.2, ENST00000415550.6

    9. NM_001346954.2 → NP_001333883.1  exonuclease V

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) differs in the 5' UTR compared to variant 1. All variants encode the same protein.
      Source sequence(s)
      AL603839
      Consensus CDS
      CCDS453.1
      UniProtKB/Swiss-Prot
      D3DPV4, Q5SWM7, Q5SWM8, Q5SWM9, Q5SWN0, Q5SWN1, Q8WTW9, Q9H790
      Related
      ENSP00000398437.2, ENST00000420209.2

    10. NM_001346955.2 → NP_001333884.1  exonuclease V

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) differs in the 5' UTR compared to variant 1. All variants encode the same protein.
      Source sequence(s)
      AL603839
      Consensus CDS
      CCDS453.1
      UniProtKB/Swiss-Prot
      D3DPV4, Q5SWM7, Q5SWM8, Q5SWM9, Q5SWN0, Q5SWN1, Q8WTW9, Q9H790

    11. NM_001346956.2 → NP_001333885.1  exonuclease V

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) differs in the 5' UTR compared to variant 1. All variants encode the same protein.
      Source sequence(s)
      AL603839
      Consensus CDS
      CCDS453.1
      UniProtKB/Swiss-Prot
      D3DPV4, Q5SWM7, Q5SWM8, Q5SWM9, Q5SWN0, Q5SWN1, Q8WTW9, Q9H790
      Related
      ENSP00000392115.2, ENST00000419161.2

    12. NM_022774.3 → NP_073611.1  exonuclease V

      See identical proteins and their annotated locations for NP_073611.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All variants encode the same protein.
      Source sequence(s)
      AK024797, CA419097
      Consensus CDS
      CCDS453.1
      UniProtKB/Swiss-Prot
      D3DPV4, Q5SWM7, Q5SWM8, Q5SWM9, Q5SWN0, Q5SWN1, Q8WTW9, Q9H790
      Related
      ENSP00000296380.4, ENST00000296380.9
      Conserved Domains (1) summary
      pfam09810
      Location:72 → 355
      Exo5; Exonuclease V - a 5' deoxyribonuclease

    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
      40508767..40516038
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017002102.3 → XP_016857591.1  exonuclease V isoform X1

      UniProtKB/Swiss-Prot
      D3DPV4, Q5SWM7, Q5SWM8, Q5SWM9, Q5SWN0, Q5SWN1, Q8WTW9, Q9H790
      Related
      ENSP00000361788.1, ENST00000372703.1
      Conserved Domains (1) summary
      pfam09810
      Location:72 → 355
      Exo5; Exonuclease V - a 5' deoxyribonuclease

    2. XM_017002099.3 → XP_016857588.1  exonuclease V isoform X1

      UniProtKB/Swiss-Prot
      D3DPV4, Q5SWM7, Q5SWM8, Q5SWM9, Q5SWN0, Q5SWN1, Q8WTW9, Q9H790
      Conserved Domains (1) summary
      pfam09810
      Location:72 → 355
      Exo5; Exonuclease V - a 5' deoxyribonuclease

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      40377905..40385218
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338301.1 → XP_054194276.1  exonuclease V isoform X1

    2. XM_054338302.1 → XP_054194277.1  exonuclease V isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H790.1 GenPept UniProtKB/Swiss-Prot:Q9H790

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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