TREX1

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Three prime repair exonuclease 1
Identifiers
Symbols TREX1 ; AGS1; CRV; DRN3; HERNS
External IDs OMIM606609 MGI1925349 HomoloGene7982 GeneCards: TREX1 Gene
EC number 3.1.11.2
RNA expression pattern
PBB GE TREX1 34689 at tn.png
PBB GE TREX1 205875 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 11277 22040
Ensembl ENSG00000213689 ENSMUSG00000049734
UniProt Q9NSU2 Q91XB0
RefSeq (mRNA) NM_007248 NM_001012236
RefSeq (protein) NP_009179 NP_001012236
Location (UCSC) Chr 3:
48.51 – 48.51 Mb
Chr 9:
109.06 – 109.06 Mb
PubMed search [1] [2]

Three prime repair exonuclease 1 is an enzyme that in humans is encoded by the TREX1 gene.[1][2][3][4]

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.[4]

References[edit]

  1. ^ 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. 
  2. ^ 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 1171463. PMID 10393201. 
  3. ^ 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. 
  4. ^ a b "Entrez Gene: TREX1 three prime repair exonuclease 1". 

Further reading[edit]

External links[edit]