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EXO5 exonuclease 5 [ Homo sapiens (human) ]

Gene ID: 64789, updated on 26-Nov-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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See EXO5 in Genome Data Viewer
Location:
1p34.2
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (40508767..40516038)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (40377905..40385218)
RS_2024_09 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 (16) 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)

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 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_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
    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

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