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

    Gene ID: 11277, updated on 14-Jun-2016
    Official Symbol
    TREX1provided by HGNC
    Official Full Name
    three prime repair exonuclease 1provided by HGNC
    Primary source
    HGNC:HGNC:12269
    See related
    Ensembl:ENSG00000213689 Ensembl:ENSG00000282827 HPRD:09423; MIM:606609; Vega:OTTHUMG00000156205; Vega:OTTHUMG00000190127
    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
    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]
    Orthologs
    Location:
    3p21.31
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (48465520..48467645)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (48506919..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 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Aicardi Goutieres syndrome 1
    MedGen: C0796126 OMIM: 225750 GeneReviews: Aicardi-Goutieres Syndrome
    Compare labs
    Chilbain lupus 1
    MedGen: C3277619 OMIM: 610448 GeneReviews: Not available
    Compare labs
    Systemic lupus erythematosus
    MedGen: C0024141 OMIM: 152700 GeneReviews: Not available
    Compare labs
    Vasculopathy, retinal, with cerebral leukodystrophy
    MedGen: C1860518 OMIM: 192315 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    Replication interactions

    Interaction Pubs
    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 PubMed

    Go to the HIV-1, Human Interaction Database

    • Cytosolic DNA-sensing pathway, organism-specific biosystem (from KEGG)
      Cytosolic DNA-sensing pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting foreign DNA from invading microbes or host cells and generating innate immune responses. DAI is the first identified s...
    • Cytosolic DNA-sensing pathway, conserved biosystem (from KEGG)
      Cytosolic DNA-sensing pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting foreign DNA from invading microbes or host cells and generating innate immune responses. DAI is the first identified s...
    • Cytosolic sensors of pathogen-associated DNA, organism-specific biosystem (from REACTOME)
      Cytosolic sensors of pathogen-associated DNA, organism-specific biosystemPresence of pathogen-associated DNA in cytosol induces type I IFN production. Several intracellular receptors have been implicated to some degree. These include DNA-dependent activator of interferon ...
    • IRF3-mediated induction of type I IFN, organism-specific biosystem (from REACTOME)
      IRF3-mediated induction of type I IFN, organism-specific biosystemTANK-binding kinase 1 (TBK1) and interferon regulatory factor 3 (IRF3) are central regulators of type-I interferon induction during bacterial or viral infection. TBK1 was found to form complexes with...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Regulation by TREX1, organism-specific biosystem (from REACTOME)
      Regulation by TREX1, organism-specific biosystemThree prime repair exonuclease 1 (TREX1) is a DNase type III enzyme, which targets and digests unpaired nucleotides on ssDNA and dsDNA ends through a 3'to 5' exonuclease activity (Perrino FW et al. 1...
    • Regulation of innate immune responses to cytosolic DNA, organism-specific biosystem (from REACTOME)
      Regulation of innate immune responses to cytosolic DNA, organism-specific biosystemInnate immune responses are coordinated and regulated to provide an efficient first line of defense against pathogens and at the same time to prevent host self-damage. Here we present some regulatory...
    • STING mediated induction of host immune responses, organism-specific biosystem (from REACTOME)
      STING mediated induction of host immune responses, organism-specific biosystemSTING (stimulator of IFN genes; also known as MITA/ERIS/MPYS/TMEM173) is an endoplasmic reticulum (ER) resident, which is required for effective type I IFN production in response to nucleic acids. In...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Potential readthrough

    Included gene: ATRIP

    Homology

    Clone Names

    • DKFZp434J0310
    Preferred Names
    three-prime repair exonuclease 1
    Names
    3' repair exonuclease 1
    3'-5' exonuclease TREX1
    DNase III
    deoxyribonuclease III
    NP_009179.2
    NP_057465.1
    NP_338599.1

    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
      4691..6816
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_007248.3NP_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, AJ243797, AL137745
      Consensus CDS
      CCDS59451.1
      UniProtKB/Swiss-Prot
      Q9NSU2
      UniProtKB/TrEMBL
      Q5TZT0
      Related
      ENSP00000415972, OTTHUMP00000210134, ENST00000444177, OTTHUMT00000344701
      Conserved Domains (1) summary
      cl10012
      Location:4201
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
    2. NM_016381.5NP_057465.1  three-prime repair exonuclease 1 isoform a

      See identical proteins and their annotated locations for NP_057465.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC134772, AL137745
      Consensus CDS
      CCDS43086.1
      UniProtKB/Swiss-Prot
      Q9NSU2
      Related
      ENSP00000486676, OTTHUMP00000279569, ENST00000625293, OTTHUMT00000484816
      Conserved Domains (1) summary
      cl10012
      Location:69266
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
    3. NM_033629.4NP_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)
      AC134772, AL137745, BQ933154
      Consensus CDS
      CCDS2769.1
      UniProtKB/Swiss-Prot
      Q9NSU2
      Related
      ENSP00000486444, OTTHUMP00000279568, ENST00000629913, OTTHUMT00000484815
      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 Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      48465520..48467645
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      48459219..48461344
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. 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.
    2. 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.