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Description for Protein TREX1

three prime repair exonuclease 1
9 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes the major 3'->5' DNA exonuclease in human cells. The protein is a non-processive exonuclease that may serve a proofreading function for a human DNA polymerase. It is also a component of the SET complex, and acts to rapidly degrade 3' ends of nicked DNA during granzyme A-mediated cell death. Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, and Cree encephalitis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
  • TM: Transmembrane domain
  • EXOIII: N-terminal domain in C. elegans NRF-6 (Nose Resistant to Fluoxetine-4) and NDG-4 (resistant to nordihydroguaiaretic acid-4).
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.1.11.2
    KEGG - Orthology:
    K10790
    KEGG - Pathway(s):
    hsa04623
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    3` repair exonuclease 1; EC 3.1.11.2; 3` 5` exonuclease TREX1; Three prime repair exonuclease 1; Three prime repair exonuclease 1 isoform d; ATR interacting protein; FLJ12343; ATRIP; DNase III; DRN3; Three prime repair exonuclease 1 isoform b; Three prime repair exonuclease 1 isoform c; Three prime repair exonuclease 1 isoform a
    Approved Symbol:
    TREX1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 15
    Human (de-) phosphorylation sites: 15; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Aicardi-Goutieres syndrome 1(Pd);
  • Cree encephalitis(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 6 : 1
  • Isoform 5 : 1
  • Isoform 4 : 1
  • Isoform 3 : 1
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 09423 Entrez Gene ID: 11277 OMIM ID: 606609 Swissprot Accession: Q9NSU2; Q8WXE1;