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

Gene ID: 11277, updated on 5-Oct-2014
Official Symbol
TREX1provided by HGNC
Official Full Name
three prime repair exonuclease 1provided by HGNC
Primary source
HGNC:HGNC:12269
See related
HPRD:09423; 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
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]
See TREX1 in Epigenomics, MapViewer
Location:
3p21.31
Exon count:
1
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 coiled-coil domain containing 51 Neighboring gene translation machinery associated 7 homolog (S. cerevisiae) 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
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Chilblain lupus erythematosus
MedGen: C0024145 OMIM: 610448 GeneReviews: Not available
Compare labs
Systemic lupus erythematosus
MedGen: C0024141 OMIM: 152700 GeneReviews: Not available
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Vasculopathy, retinal, with cerebral leukodystrophy
MedGen: C1860518 OMIM: 192315 GeneReviews: Not available
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NHGRI GWAS Catalog

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3'-5' exonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
3'-5' exonuclease activity TAS
Traceable Author Statement
more info
PubMed 
3'-5'-exodeoxyribonuclease activity ISS
Inferred from Sequence or Structural Similarity
more info
 
MutLalpha complex binding IDA
Inferred from Direct Assay
more info
PubMed 
MutSalpha complex binding IDA
Inferred from Direct Assay
more info
PubMed 
adenyl deoxyribonucleotide binding IEA
Inferred from Electronic Annotation
more info
 
double-stranded DNA binding IEA
Inferred from Electronic Annotation
more info
 
exodeoxyribonuclease III activity IEA
Inferred from Electronic Annotation
more info
 
metal ion binding NAS
Non-traceable Author Statement
more info
PubMed 
metal ion binding TAS
Traceable Author Statement
more info
PubMed 
protein homodimerization activity NAS
Non-traceable Author Statement
more info
PubMed 
protein homodimerization activity TAS
Traceable Author Statement
more info
PubMed 
single-stranded DNA binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
DNA catabolic process, exonucleolytic IEA
Inferred from Electronic Annotation
more info
 
DNA catabolic process, exonucleolytic ISS
Inferred from Sequence or Structural Similarity
more info
 
DNA catabolic process, exonucleolytic TAS
Traceable Author Statement
more info
PubMed 
DNA metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
DNA recombination NAS
Non-traceable Author Statement
more info
PubMed 
DNA repair TAS
Traceable Author Statement
more info
PubMed 
DNA replication NAS
Non-traceable Author Statement
more info
PubMed 
cell death IEA
Inferred from Electronic Annotation
more info
 
cellular response to interferon-beta IEA
Inferred from Electronic Annotation
more info
 
innate immune response TAS
Traceable Author Statement
more info
 
mismatch repair NAS
Non-traceable Author Statement
more info
PubMed 
nucleic acid phosphodiester bond hydrolysis IDA
Inferred from Direct Assay
more info
PubMed 
nucleic acid phosphodiester bond hydrolysis TAS
Traceable Author Statement
more info
PubMed 
positive regulation of type I interferon production TAS
Traceable Author Statement
more info
 
regulation of type I interferon production TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
nuclear envelope NAS
Non-traceable Author Statement
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
three-prime repair exonuclease 1
Names
three-prime repair exonuclease 1
DNase III
deoxyribonuclease III
3' repair exonuclease 1
3'-5' exonuclease TREX1
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_009820.1 

    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 proteins identical to 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/TrEMBL
    Q5TZT0
    UniProtKB/Swiss-Prot
    Q9NSU2
    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 proteins identical to 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
    UniProtKB/Swiss-Prot
    Q9NSU2
    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 proteins identical to 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
    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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000003.12 

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

Alternate HuRef

Genomic

  1. AC_000135.1 

    Range
    48560949..48563074
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 

    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.