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    TREX1 three prime repair exonuclease 1 [ Homo sapiens (human) ]

    Gene ID: 11277, updated on 8-Jul-2021

    Summary

    Official Symbol
    TREX1provided by HGNC
    Official Full Name
    three prime repair exonuclease 1provided by HGNC
    Primary source
    HGNC:HGNC:12269
    See related
    Ensembl:ENSG00000213689 MIM:606609
    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
    CRV; AGS1; DRN3; HERNS; RVCLS
    Summary
    This gene encodes a nuclear protein with 3' exonuclease activity. The encoded protein may play a role in DNA repair and serve as a proofreading function for DNA polymerase. Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, Cree encephalitis, and other diseases of the immune system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]
    Annotation information
    Note: GeneID 11277 was annotated as a single gene with two non-overlapping coding regions. GeneID 11277 now represents only the downstream coding region encoding three prime repair exonuclease 1. The upstream coding region is represented by geneID 84126. [29 May 2007]
    Expression
    Ubiquitous expression in spleen (RPKM 9.5), lymph node (RPKM 7.7) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TREX1 in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (48465830..48467645)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (48507229..48509044)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene plexin B1 Neighboring gene uncharacterized LOC105377077 Neighboring gene coiled-coil domain containing 51 Neighboring gene ATRIP-TREX1 readthrough Neighboring gene translation machinery associated 7 homolog Neighboring gene ATR interacting protein Neighboring gene shisa family member 5 Neighboring gene 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 Neighboring gene microRNA 6823

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV-1 replication requires TREX1 expression in human cervicovaginal explants as shown through TREX1 knockdown PubMed
    SiRNA-mediated knockdown of one of the components of the SET complex, TREX1, inhibits HIV-1 infection with significantly reduced levels of integrated HIV-1 DNA and viral production in HeLa-CD4 cells, human cervicovaginal explants or humanized mice PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Readthrough ATRIP-TREX1

    Readthrough gene: ATRIP-TREX1, Included gene: ATRIP

    Homology

    Clone Names

    • DKFZp434J0310

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3'-5' exonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables 3'-5'-exodeoxyribonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables 3'-5'-exodeoxyribonuclease activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables DNA binding, bending IEA
    Inferred from Electronic Annotation
    more info
     
    enables MutLalpha complex binding IDA
    Inferred from Direct Assay
    more info
     
    enables MutSalpha complex binding IDA
    Inferred from Direct Assay
    more info
     
    enables WW domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables adenyl deoxyribonucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables double-stranded DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables exodeoxyribonuclease III activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables magnesium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables single-stranded DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in CD86 biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in DNA catabolic process, exonucleolytic IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in DNA duplex unwinding IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in DNA metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in DNA modification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in DNA recombination NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in DNA repair TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in DNA replication NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in DNA synthesis involved in UV-damage excision repair IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in T cell antigen processing and presentation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in activation of immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in apoptotic cell clearance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in atrial cardiac muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in blood vessel development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to gamma radiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to hydroxyurea IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to interferon-beta IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to reactive oxygen species IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in defense response to virus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in determination of adult lifespan IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of protein localization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in generation of precursor metabolites and energy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in immune complex formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in immune response in brain or nervous system IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inflammatory response to antigenic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in kidney development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lymphoid progenitor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in macrophage activation involved in immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mismatch repair NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in mitotic G1 DNA damage checkpoint signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of type I interferon-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein stabilization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of T cell activation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cellular respiration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of fatty acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of glycolytic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of immunoglobulin production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of lipid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of lysosome organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of protein complex stability IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of tumor necrosis factor production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of type I interferon production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transposition, RNA-mediated IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in type I interferon signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in nuclear envelope NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in nuclear replication fork IEA
    Inferred from Electronic Annotation
    more info
     
    part_of oligosaccharyltransferase complex IEA
    Inferred from Electronic Annotation
    more info
     
    part_of protein-DNA complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    three-prime repair exonuclease 1
    Names
    3' repair exonuclease 1
    3'-5' exonuclease TREX1
    DNase III
    deoxyribonuclease III
    NP_009179.2
    NP_338599.1

    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.

    Genomic

    1. NG_009820.2 RefSeqGene

      Range
      5401..6816
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_282

    mRNA and Protein(s)

    1. NM_007248.5NP_009179.2  three-prime repair exonuclease 1 isoform c

      See identical proteins and their annotated locations for NP_009179.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The resulting isoform (c) has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AC134772, AF319566, AF319569, AJ243797, BT020053, W24304
      Consensus CDS
      CCDS59451.1
      UniProtKB/Swiss-Prot
      Q9NSU2
      UniProtKB/TrEMBL
      Q5TZT0
      Related
      ENSP00000415972.1, ENST00000444177.1
      Conserved Domains (1) summary
      cl10012
      Location:4201
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
    2. NM_033629.6NP_338599.1  three-prime repair exonuclease 1 isoform b

      See identical proteins and their annotated locations for NP_338599.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The resulting isoform (b) has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AF319569, AL137745, BT020053
      Consensus CDS
      CCDS2769.1
      UniProtKB/Swiss-Prot
      Q9NSU2
      Related
      ENSP00000486676.2, ENST00000625293.3
      Conserved Domains (1) summary
      cl10012
      Location:14211
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      48465830..48467645
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_016381.5: Suppressed sequence

      Description
      NM_016381.5: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    2. NM_033627.3: Suppressed sequence

      Description
      NM_033627.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript, which represents a rare readthrough event.
    3. NM_033628.2: Suppressed sequence

      Description
      NM_033628.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript, which represents a rare readthrough event.
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