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    EXO5 exonuclease 5 [ Homo sapiens (human) ]

    Gene ID: 64789, updated on 2-Nov-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    General gene information

    Clone Names

    • FLJ11445, FLJ13183, FLJ21144

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytosol PubMed 
    located_in nucleoplasm  
    is_active_in nucleus  
    located_in nucleus PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001346946.2NP_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_001346947.2NP_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_001346948.2NP_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_001346949.2NP_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_001346950.2NP_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_001346951.2NP_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_001346952.2NP_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_001346953.2NP_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_001346954.2NP_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_001346955.2NP_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_001346956.2NP_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_022774.3NP_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:72355
      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_017002102.3XP_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:72355
      Exo5; Exonuclease V - a 5' deoxyribonuclease
    2. XM_017002099.3XP_016857588.1  exonuclease V isoform X1

      UniProtKB/Swiss-Prot
      D3DPV4, Q5SWM7, Q5SWM8, Q5SWM9, Q5SWN0, Q5SWN1, Q8WTW9, Q9H790
      Conserved Domains (1) summary
      pfam09810
      Location:72355
      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_054338301.1XP_054194276.1  exonuclease V isoform X1

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

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