TREX1

TREX1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2IOC, 2O4G, 2O4I, 2OA8, 3B6O, 3B6P, 3MXI, 3MXJ, 3MXM, 3U3Y, 3U6F, 4YNQ
Identifiers
Aliases	TREX1, AGS1, CRV, DRN3, HERNS, three prime repair exonuclease 1, RVCLS
External IDs	OMIM: 606609; MGI: 1328317; HomoloGene: 7982; GeneCards: TREX1; OMA:TREX1 - orthologs
Gene location (Human) Chr. Chromosome 3 (human) Band 3p21.31 Start 48,465,811 bp End 48,467,645 bp
Gene location (Mouse) Chr. Chromosome 9 (mouse) Band 9|9 F2 Start 108,887,001 bp End 108,888,802 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in olfactory zone of nasal mucosa granulocyte monocyte spleen skin of abdomen skin of leg anterior pituitary blood salivary gland minor salivary glands Top expressed in lens spleen urinary bladder quadriceps femoris muscle adrenal gland bone marrow granulocyte muscle tissue muscle of thigh white adipose tissue More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein homodimerization activity metal ion binding single-stranded DNA binding exodeoxyribonuclease III activity MutSalpha complex binding protein binding 3'-5'-exodeoxyribonuclease activity MutLalpha complex binding nucleic acid binding nuclease activity exonuclease activity hydrolase activity 3'-5' exonuclease activity double-stranded DNA binding adenyl deoxyribonucleotide binding magnesium ion binding DNA binding DNA binding, bending WW domain binding Cellular component cytoplasm nuclear envelope endoplasmic reticulum membrane membrane endoplasmic reticulum nucleus cytosol oligosaccharyltransferase complex protein-DNA complex nuclear replication fork Biological process DNA recombination regulation of type I interferon production DNA replication DNA mismatch repair nucleic acid phosphodiester bond hydrolysis DNA metabolic process DNA repair cellular response to interferon-beta blood vessel development kidney development adaptive immune response organ or tissue specific immune response activation of immune response macrophage activation involved in immune response lymphoid progenitor cell differentiation immune response in brain or nervous system inflammatory response to antigenic stimulus T cell antigen processing and presentation regulation of immunoglobulin production heart morphogenesis heart process atrial cardiac muscle tissue development generation of precursor metabolites and energy regulation of glycolytic process DNA modification DNA catabolic process inflammatory response immune response cellular response to DNA damage stimulus determination of adult lifespan response to UV regulation of gene expression regulation of fatty acid metabolic process regulation of cellular metabolic process transposition, RNA-mediated DNA duplex unwinding interferon-alpha production regulation of tumor necrosis factor production cellular response to oxidative stress cellular response to reactive oxygen species cellular response to UV CD86 biosynthetic process apoptotic cell clearance regulation of cellular respiration innate immune response regulation of innate immune response establishment of protein localization regulation of lipid biosynthetic process regulation of inflammatory response regulation of catalytic activity protein stabilization regulation of T cell activation defense response to virus type I interferon signaling pathway negative regulation of type I interferon-mediated signaling pathway regulation of protein complex stability cellular response to organic substance cellular response to type I interferon cellular response to gamma radiation cellular response to hydroxyurea immune complex formation DNA synthesis involved in UV-damage excision repair regulation of lysosome organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 11277 22040 Ensembl ENSG00000213689 ENSMUSG00000049734 UniProt Q9NSU2 Q91XB0 RefSeq (mRNA) NM_033629 NM_007248 NM_016381 NM_033627 NM_033628 NM_001012236 NM_011637 RefSeq (protein) NP_009179 NP_338599 NP_001012236 NP_035767 Location (UCSC) Chr 3: 48.47 – 48.47 Mb Chr 9: 108.89 – 108.89 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Three prime repair exonuclease 1 is an enzyme that in humans is encoded by the TREX1 gene.

Function

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.

clinical relevance

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

Further reading

• Tolmie JL, Shillito P, Hughes-Benzie R, Stephenson JB (1996). "The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis)". J. Med. Genet. 32 (11): 881–4. doi:10.1136/jmg.32.11.881. PMC 1051740. PMID 8592332.
• Black DN; Watters GV; Andermann E; et al. (1989). "Encephalitis among Cree children in northern Quebec". Ann. Neurol. 24 (4): 483–9. doi:10.1002/ana.410240402. PMID 3239950. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
• Perrino FW, Miller H, Ealey KA (1994). "Identification of a 3'-->5'-exonuclease that removes cytosine arabinoside monophosphate from 3' termini of DNA". J. Biol. Chem. 269 (23): 16357–63. PMID 8206943.
• Goutières F, Aicardi J, Barth PG, Lebon P (1999). "Aicardi-Goutières syndrome: an update and results of interferon-alpha studies". Ann. Neurol. 44 (6): 900–7. doi:10.1002/ana.410440608. PMID 9851434.
• Crow YJ; Jackson AP; Roberts E; et al. (2000). "Aicardi-Goutières Syndrome Displays Genetic Heterogeneity with One Locus (AGS1) on Chromosome 3p21". Am. J. Hum. Genet. 67 (1): 213–21. doi:10.1086/302955. PMC 1287108. PMID 10827106. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
• Mazur DJ, Perrino FW (2001). "Structure and expression of the TREX1 and TREX2 3' --> 5' exonuclease genes". J. Biol. Chem. 276 (18): 14718–27. doi:10.1074/jbc.M010051200. PMID 11278605.{{cite journal}}: CS1 maint: unflagged free DOI (link)
• Strausberg RL; Feingold EA; Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
• Crow YJ; Black DN; Ali M; et al. (2003). "Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism". J. Med. Genet. 40 (3): 183–7. doi:10.1136/jmg.40.3.183. PMC 1735395. PMID 12624136. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
• Ota T; Suzuki Y; Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
• Gerhard DS; Wagner L; Feingold EA; et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
• Unsal-Kaçmaz K, Mullen TE, Kaufmann WK, Sancar A (2005). "Coupling of Human Circadian and Cell Cycles by the Timeless Protein". Mol. Cell. Biol. 25 (8): 3109–16. doi:10.1128/MCB.25.8.3109-3116.2005. PMC 1069621. PMID 15798197.
• Rual JF; Venkatesan K; Hao T; et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
• Kimura K; Wakamatsu A; Suzuki Y; et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
• Yoshioka K, Yoshioka Y, Hsieh P (2006). "ATR Kinase Activation Mediated by MutSα and MutLα in Response to Cytotoxic O6-Methylguanine Adducts". Mol. Cell. 22 (4): 501–10. doi:10.1016/j.molcel.2006.04.023. PMC 2423943. PMID 16713580.
• Chowdhury D; Beresford PJ; Zhu P; et al. (2006). "The exonuclease TREX1 is in the SET complex and acts in concert with NM23-H1 to degrade DNA during granzyme A-mediated cell death". Mol. Cell. 23 (1): 133–42. doi:10.1016/j.molcel.2006.06.005. PMID 16818237. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
• Olsen JV; Blagoev B; Gnad F; et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)

External links

• GeneReviews/NCBI/NIH/UW entry on Aicardi-Goutières Syndrome
• OMIM entries on Aicardi-Goutieres syndrome