TREX1

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TREX1
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases TREX1, AGS1, CRV, DRN3, HERNS, three prime repair exonuclease 1
External IDs MGI: 1328317 HomoloGene: 7982 GeneCards: TREX1
Genetically Related Diseases
obesity[1]
RNA expression pattern
PBB GE TREX1 205875 s at fs.png

PBB GE TREX1 34689 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_033629
NM_007248
NM_016381
NM_033627
NM_033628

NM_001012236
NM_011637

RefSeq (protein)

NP_009179
NP_057465
NP_338599

NP_001012236.1
NP_035767.4
NP_001012236
NP_035767

Location (UCSC) Chr 3: 48.47 – 48.47 Mb Chr 9: 109.06 – 109.06 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Three prime repair exonuclease 1 is an enzyme that in humans is encoded by the TREX1 gene.[4][5][6][7]

Function[edit]

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, RVCL (Retinal Vasculopathy with Cerebral Leukodystrophy), and Cree encephalitis. Multiple transcript variants encoding different isoforms have been found for this gene.[7]

clinical relevance[edit]

TREX1 helps HIV‑1 to evade cytosolic sensing by degrading viral cDNA in the cytoplasm[8]

References[edit]

  1. ^ "Diseases that are genetically associated with TREX1 view/edit references on wikidata". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ Mazur DJ, Perrino FW (Aug 1999). "Identification and expression of the TREX1 and TREX2 cDNA sequences encoding mammalian 3'-->5' exonucleases". J Biol Chem. 274 (28): 19655–60. doi:10.1074/jbc.274.28.19655. PMID 10391904. 
  5. ^ Hoss M, Robins P, Naven TJ, Pappin DJ, Sgouros J, Lindahl T (Aug 1999). "A human DNA editing enzyme homologous to the Escherichia coli DnaQ/MutD protein". EMBO J. 18 (13): 3868–75. doi:10.1093/emboj/18.13.3868. PMC 1171463Freely accessible. PMID 10393201. 
  6. ^ Crow YJ, Hayward BE, Parmar R, Robins P, Leitch A, Ali M, Black DN, van Bokhoven H, Brunner HG, Hamel BC, Corry PC, Cowan FM, Frints SG, Klepper J, Livingston JH, Lynch SA, Massey RF, Meritet JF, Michaud JL, Ponsot G, Voit T, Lebon P, Bonthron DT, Jackson AP, Barnes DE, Lindahl T (Jul 2006). "Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus". Nat Genet. 38 (8): 917–20. doi:10.1038/ng1845. PMID 16845398. 
  7. ^ a b "Entrez Gene: TREX1 three prime repair exonuclease 1". 
  8. ^ Doyle, Thomas (27 April 2015). "HIV-1 and interferons: who's interfering with whom?". Nature Reviews Microbiology. 13 (Nature Reviews Microbiology 13): 403–413. doi:10.1038/nrmicro3449. Retrieved 6 April 2016. 

Further reading[edit]

External links[edit]