TREX1: Difference between revisions

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Revision as of 23:24, 30 November 2017

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

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.^[4]

clinical relevance

TREX1 helps HIV‑1 to evade cytosolic sensing by degrading viral cDNA in the cytoplasm^[5]

References

↑ 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.
↑ 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.
↑ 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.
↑ ^4.0 ^4.1 "Entrez Gene: TREX1 three prime repair exonuclease 1".
↑ 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. PMID 25915633. Retrieved 6 April 2016.

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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.

External links

This article on a gene on human chromosome 3 is a stub. You can help Wikipedia by expanding it.

[pmid10391904-1] 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.

[pmid10393201-2] 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.

[pmid16845398-3] 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.

[entrez-4] 4.0 ^4.1 "Entrez Gene: TREX1 three prime repair exonuclease 1".

[5] 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. PMID 25915633. Retrieved 6 April 2016.

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@@ Line 1: / Line 1: @@
-<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
+{{Infobox_gene}}
-{{PBB_Controls
+'''Three prime repair exonuclease 1''' is an [[enzyme]] that in humans is encoded by the ''TREX1'' [[gene]].<ref name="pmid10391904">{{cite journal |vauthors=Mazur DJ, Perrino FW | title = Identification and expression of the TREX1 and TREX2 cDNA sequences encoding mammalian 3'-->5' exonucleases | journal = J Biol Chem | volume = 274 | issue = 28 | pages = 19655–60 |date=Aug 1999 | pmid = 10391904 | pmc =  | doi =10.1074/jbc.274.28.19655  }}</ref><ref name="pmid10393201">{{cite journal |vauthors=Hoss M, Robins P, Naven TJ, Pappin DJ, Sgouros J, Lindahl T | title = A human DNA editing enzyme homologous to the Escherichia coli DnaQ/MutD protein | journal = EMBO J | volume = 18 | issue = 13 | pages = 3868–75 |date=Aug 1999 | pmid = 10393201 | pmc = 1171463 | doi = 10.1093/emboj/18.13.3868 }}</ref><ref name="pmid16845398">{{cite journal |vauthors=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 | title = Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus | journal = Nat Genet | volume = 38 | issue = 8 | pages = 917–20 |date=Jul 2006 | pmid = 16845398 | pmc =  | doi = 10.1038/ng1845 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: TREX1 three prime repair exonuclease 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=11277| accessdate = }}</ref>
-| update_page = yes
-| require_manual_inspection = no
-| update_protein_box = yes
-| update_summary = yes
-| update_citations = yes
-}}
-<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
+== Function ==
-{{GNF_Protein_box
- | image =
- | image_source =
- | PDB =
- | Name = Three prime repair exonuclease 1
- | HGNCid = 12269
- | Symbol = TREX1
- | AltSymbols =; AGS1; ATRIP; DKFZp434J0310; DRN3; FLJ12343
- | OMIM = 606605
- | ECnumber =
- | Homologene = 15601
- | MGIid = 1925349
- | GeneAtlas_image1 = PBB_GE_TREX1_34689_at_tn.png
- | GeneAtlas_image2 = PBB_GE_TREX1_205875_s_at_tn.png
- | Function = {{GNF_GO|id=GO:0000287 |text = magnesium ion binding}} {{GNF_GO|id=GO:0003697 |text = single-stranded DNA binding}} {{GNF_GO|id=GO:0008296 |text = 3'-5'-exodeoxyribonuclease activity}} {{GNF_GO|id=GO:0008853 |text = exodeoxyribonuclease III activity}} {{GNF_GO|id=GO:0016787 |text = hydrolase activity}} {{GNF_GO|id=GO:0032405 |text = MutLalpha complex binding}} {{GNF_GO|id=GO:0032407 |text = MutSalpha complex binding}} {{GNF_GO|id=GO:0042803 |text = protein homodimerization activity}}
- | Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005635 |text = nuclear envelope}}
- | Process = {{GNF_GO|id=GO:0006260 |text = DNA replication}} {{GNF_GO|id=GO:0006281 |text = DNA repair}} {{GNF_GO|id=GO:0006298 |text = mismatch repair}} {{GNF_GO|id=GO:0006310 |text = DNA recombination}}
- | Orthologs = {{GNF_Ortholog_box
-    | Hs_EntrezGene = 11277
-    | Hs_Ensembl = ENSG00000164053
-    | Hs_RefseqProtein = NP_057465
-    | Hs_RefseqmRNA = NM_016381
-    | Hs_GenLoc_db =
-    | Hs_GenLoc_chr = 3
-    | Hs_GenLoc_start = 48463141
-    | Hs_GenLoc_end = 48484045
-    | Hs_Uniprot = Q9NSU2
-    | Mm_EntrezGene = 235610
-    | Mm_Ensembl = ENSMUSG00000025646
-    | Mm_RefseqmRNA = NM_172774
-    | Mm_RefseqProtein = NP_766362
-    | Mm_GenLoc_db =
-    | Mm_GenLoc_chr = 9
-    | Mm_GenLoc_start = 108917155
-    | Mm_GenLoc_end = 108931517
-    | Mm_Uniprot = Q66L37
-  }}
-}}
-'''Three prime repair exonuclease 1''', also known as '''TREX1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: TREX1 three prime repair exonuclease 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=11277| accessdate = }}</ref>
-<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
+This gene encodes the major 3'-&gt;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, [[Autosomal dominant retinal vasculopathy with cerebral leukodystrophy|RVCL (Retinal Vasculopathy with Cerebral Leukodystrophy)]], and Cree encephalitis. Multiple transcript variants encoding different isoforms have been found for this gene.<ref name="entrez" />
-{{PBB_Summary
-| section_title =
+== clinical relevance ==
-| summary_text = This gene encodes the major 3'-&gt;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.<ref name="entrez">{{cite web | title = Entrez Gene: TREX1 three prime repair exonuclease 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=11277| accessdate = }}</ref>
-}}
+TREX1 helps HIV‑1 to evade cytosolic sensing by degrading viral cDNA in the cytoplasm<ref>{{cite journal|last1=Doyle|first1=Thomas|title=HIV-1 and interferons: who's interfering with whom?|journal=Nature Reviews Microbiology|date=27 April 2015|volume=13|issue=Nature Reviews Microbiology 13|pages=403–413|doi=10.1038/nrmicro3449|url=http://www.nature.com/nrmicro/journal/v13/n7/abs/nrmicro3449.html|accessdate=6 April 2016|pmid=25915633}}</ref>
 ==References==
-{{reflist|2}}
+{{reflist}}
 ==Further reading==
 {{refbegin | 2}}
-{{PBB_Further_reading
+*{{cite journal  |vauthors=Tolmie JL, Shillito P, Hughes-Benzie R, Stephenson JB |title=The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis) |journal=J. Med. Genet. |volume=32 |issue= 11 |pages= 881–4 |year= 1996 |pmid= 8592332 |doi=10.1136/jmg.32.11.881  | pmc=1051740  }}
-| citations =
+*{{cite journal  | author=Black DN |title=Encephalitis among Cree children in northern Quebec |journal=Ann. Neurol. |volume=24 |issue= 4 |pages= 483–9 |year= 1989 |pmid= 3239950 |doi= 10.1002/ana.410240402  |name-list-format=vanc| author2=Watters GV  | author3=Andermann E  | display-authors=3  | last4=Dumont  | first4=Charles  | last5=Kabay  | first5=Michel E.  | last6=Kaplan  | first6=Paige  | last7=Meagher-Villemure  | first7=Kathleen  | last8=Michaud  | first8=Jean  | last9=O'Gorman  | first9=Gus }}
-*{{cite journal  | author=Tolmie JL, Shillito P, Hughes-Benzie R, Stephenson JB |title=The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis). |journal=J. Med. Genet. |volume=32 |issue= 11 |pages= 881-4 |year= 1996 |pmid= 8592332 |doi=  }}
+*{{cite journal  |vauthors=Perrino FW, Miller H, Ealey KA |title=Identification of a 3'-->5'-exonuclease that removes cytosine arabinoside monophosphate from 3' termini of DNA |journal=J. Biol. Chem. |volume=269 |issue= 23 |pages= 16357–63 |year= 1994 |pmid= 8206943 |doi=  }}
-*{{cite journal  | author=Black DN, Watters GV, Andermann E, ''et al.'' |title=Encephalitis among Cree children in northern Quebec. |journal=Ann. Neurol. |volume=24 |issue= 4 |pages= 483-9 |year= 1989 |pmid= 3239950 |doi= 10.1002/ana.410240402 }}
+*{{cite journal  |vauthors=Goutières F, Aicardi J, Barth PG, Lebon P |title=Aicardi-Goutières syndrome: an update and results of interferon-alpha studies |journal=Ann. Neurol. |volume=44 |issue= 6 |pages= 900–7 |year= 1999 |pmid= 9851434 |doi= 10.1002/ana.410440608 }}
-*{{cite journal  | author=Perrino FW, Miller H, Ealey KA |title=Identification of a 3'-->5'-exonuclease that removes cytosine arabinoside monophosphate from 3' termini of DNA. |journal=J. Biol. Chem. |volume=269 |issue= 23 |pages= 16357-63 |year= 1994 |pmid= 8206943 |doi=  }}
+*{{cite journal  | author=Crow YJ |title=Aicardi-Goutières Syndrome Displays Genetic Heterogeneity with One Locus (AGS1) on Chromosome 3p21 |journal=Am. J. Hum. Genet. |volume=67 |issue= 1 |pages= 213–21 |year= 2000 |pmid= 10827106 |doi=10.1086/302955  | pmc=1287108  |name-list-format=vanc| author2=Jackson AP  | author3=Roberts E  | display-authors=3  | last4=Vanbeusekom  | first4=E  | last5=Barth  | first5=P  | last6=Corry  | first6=P  | last7=Ferrie  | first7=C  | last8=Hamel  | first8=B  | last9=Jayatunga  | first9=R  }}
-*{{cite journal  | author=Goutières F, Aicardi J, Barth PG, Lebon P |title=Aicardi-Goutières syndrome: an update and results of interferon-alpha studies. |journal=Ann. Neurol. |volume=44 |issue= 6 |pages= 900-7 |year= 1999 |pmid= 9851434 |doi= 10.1002/ana.410440608 }}
+*{{cite journal  |vauthors=Mazur DJ, Perrino FW |title=Structure and expression of the TREX1 and TREX2 3' --> 5' exonuclease genes |journal=J. Biol. Chem. |volume=276 |issue= 18 |pages= 14718–27 |year= 2001 |pmid= 11278605 |doi= 10.1074/jbc.M010051200 }}
-*{{cite journal  | author=Mazur DJ, Perrino FW |title=Identification and expression of the TREX1 and TREX2 cDNA sequences encoding mammalian 3'-->5' exonucleases. |journal=J. Biol. Chem. |volume=274 |issue= 28 |pages= 19655-60 |year= 1999 |pmid= 10391904 |doi=  }}
+*{{cite journal  | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241  |name-list-format=vanc| author2=Feingold EA  | author3=Grouse LH  | display-authors=3  | last4=Derge  | first4=JG  | last5=Klausner  | first5=RD  | last6=Collins  | first6=FS  | last7=Wagner  | first7=L  | last8=Shenmen  | first8=CM  | last9=Schuler  | first9=GD }}
-*{{cite journal  | author=Höss M, Robins P, Naven TJ, ''et al.'' |title=A human DNA editing enzyme homologous to the Escherichia coli DnaQ/MutD protein. |journal=EMBO J. |volume=18 |issue= 13 |pages= 3868-75 |year= 1999 |pmid= 10393201 |doi= 10.1093/emboj/18.13.3868 }}
+*{{cite journal  | author=Crow YJ |title=Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism |journal=J. Med. Genet. |volume=40 |issue= 3 |pages= 183–7 |year= 2003 |pmid= 12624136 |doi=10.1136/jmg.40.3.183  | pmc=1735395  |name-list-format=vanc| author2=Black DN  | author3=Ali M  | display-authors=3  | last4=Bond  | first4=J  | last5=Jackson  | first5=AP  | last6=Lefson  | first6=M  | last7=Michaud  | first7=J  | last8=Roberts  | first8=E  | last9=Stephenson  | first9=JB  }}
-*{{cite journal  | author=Crow YJ, Jackson AP, Roberts E, ''et al.'' |title=Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21. |journal=Am. J. Hum. Genet. |volume=67 |issue= 1 |pages= 213-21 |year= 2000 |pmid= 10827106 |doi=  }}
+*{{cite journal  | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285  |name-list-format=vanc| author2=Suzuki Y  | author3=Nishikawa T  | display-authors=3  | last4=Otsuki  | first4=Tetsuji  | last5=Sugiyama  | first5=Tomoyasu  | last6=Irie  | first6=Ryotaro  | last7=Wakamatsu  | first7=Ai  | last8=Hayashi  | first8=Koji  | last9=Sato  | first9=Hiroyuki }}
-*{{cite journal  | author=Mazur DJ, Perrino FW |title=Structure and expression of the TREX1 and TREX2 3' --> 5' exonuclease genes. |journal=J. Biol. Chem. |volume=276 |issue= 18 |pages= 14718-27 |year= 2001 |pmid= 11278605 |doi= 10.1074/jbc.M010051200 }}
+*{{cite journal  | author=Gerhard DS |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504  | pmc=528928  |name-list-format=vanc| author2=Wagner L  | author3=Feingold EA  | display-authors=3  | last4=Shenmen  | first4=CM  | last5=Grouse  | first5=LH  | last6=Schuler  | first6=G  | last7=Klein  | first7=SL  | last8=Old  | first8=S  | last9=Rasooly  | first9=R }}
-*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
+*{{cite journal  |vauthors=Unsal-Kaçmaz K, Mullen TE, Kaufmann WK, Sancar A |title=Coupling of Human Circadian and Cell Cycles by the Timeless Protein |journal=Mol. Cell. Biol. |volume=25 |issue= 8 |pages= 3109–16 |year= 2005 |pmid= 15798197 |doi= 10.1128/MCB.25.8.3109-3116.2005  | pmc=1069621 }}
-*{{cite journal  | author=Crow YJ, Black DN, Ali M, ''et al.'' |title=Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism. |journal=J. Med. Genet. |volume=40 |issue= 3 |pages= 183-7 |year= 2003 |pmid= 12624136 |doi=  }}
+*{{cite journal  | author=Rual JF |title=Towards a proteome-scale map of the human protein-protein interaction network |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209  |name-list-format=vanc| author2=Venkatesan K  | author3=Hao T  | display-authors=3  | last4=Hirozane-Kishikawa  | first4=Tomoko  | last5=Dricot  | first5=Amélie  | last6=Li  | first6=Ning  | last7=Berriz  | first7=Gabriel F.  | last8=Gibbons  | first8=Francis D.  | last9=Dreze  | first9=Matija }}
-*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
+*{{cite journal  | author=Kimura K |title=Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406  | pmc=1356129  |name-list-format=vanc| author2=Wakamatsu A  | author3=Suzuki Y  | display-authors=3  | last4=Ota  | first4=T  | last5=Nishikawa  | first5=T  | last6=Yamashita  | first6=R  | last7=Yamamoto  | first7=J  | last8=Sekine  | first8=M  | last9=Tsuritani  | first9=K }}
-*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
+*{{cite journal  |vauthors=Yoshioka K, Yoshioka Y, Hsieh P |title=ATR Kinase Activation Mediated by MutSα and MutLα in Response to Cytotoxic O6-Methylguanine Adducts |journal=Mol. Cell |volume=22 |issue= 4 |pages= 501–10 |year= 2006 |pmid= 16713580 |doi= 10.1016/j.molcel.2006.04.023  | pmc=2423943 }}
-*{{cite journal  | author=Unsal-Kaçmaz K, Mullen TE, Kaufmann WK, Sancar A |title=Coupling of human circadian and cell cycles by the timeless protein. |journal=Mol. Cell. Biol. |volume=25 |issue= 8 |pages= 3109-16 |year= 2005 |pmid= 15798197 |doi= 10.1128/MCB.25.8.3109-3116.2005 }}
+*{{cite journal  | author=Chowdhury D |title=The exonuclease TREX1 is in the SET complex and acts in concert with NM23-H1 to degrade DNA during granzyme A-mediated cell death |journal=Mol. Cell |volume=23 |issue= 1 |pages= 133–42 |year= 2006 |pmid= 16818237 |doi= 10.1016/j.molcel.2006.06.005  |name-list-format=vanc| author2=Beresford PJ  | author3=Zhu P  | display-authors=3  | last4=Zhang  | first4=Dong  | last5=Sung  | first5=Jung-Suk  | last6=Demple  | first6=Bruce  | last7=Perrino  | first7=Fred W.  | last8=Lieberman  | first8=Judy }}
-*{{cite journal  | author=Rual JF, Venkatesan K, Hao T, ''et al.'' |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173-8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }}
+*{{cite journal  | author=Olsen JV |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks |journal=Cell |volume=127 |issue= 3 |pages= 635–48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026  |name-list-format=vanc| author2=Blagoev B  | author3=Gnad F  | display-authors=3  | last4=Macek  | first4=Boris  | last5=Kumar  | first5=Chanchal  | last6=Mortensen  | first6=Peter  | last7=Mann  | first7=Matthias }}
-*{{cite journal  | author=Kimura K, Wakamatsu A, Suzuki Y, ''et al.'' |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55-65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 }}
-*{{cite journal  | author=Yoshioka K, Yoshioka Y, Hsieh P |title=ATR kinase activation mediated by MutSalpha and MutLalpha in response to cytotoxic O6-methylguanine adducts. |journal=Mol. Cell |volume=22 |issue= 4 |pages= 501-10 |year= 2006 |pmid= 16713580 |doi= 10.1016/j.molcel.2006.04.023 }}
-*{{cite journal  | author=Chowdhury D, Beresford PJ, Zhu P, ''et al.'' |title=The exonuclease TREX1 is in the SET complex and acts in concert with NM23-H1 to degrade DNA during granzyme A-mediated cell death. |journal=Mol. Cell |volume=23 |issue= 1 |pages= 133-42 |year= 2006 |pmid= 16818237 |doi= 10.1016/j.molcel.2006.06.005 }}
-*{{cite journal  | author=Crow YJ, Hayward BE, Parmar R, ''et al.'' |title=Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. |journal=Nat. Genet. |volume=38 |issue= 8 |pages= 917-20 |year= 2006 |pmid= 16845398 |doi= 10.1038/ng1845 }}
-*{{cite journal  | author=Olsen JV, Blagoev B, Gnad F, ''et al.'' |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635-48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 }}
-}}
 {{refend}}
-{{protein-stub}}
+==External links==
-{{WikiDoc Sources}}
+* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ags  GeneReviews/NCBI/NIH/UW entry on Aicardi-Goutières Syndrome]
+* [https://www.ncbi.nlm.nih.gov/omim/225750,606034,606609,610181,610326,610329,610330,610333,225750,606034,606609,610181,610326,610329,610330,610333  OMIM entries on Aicardi-Goutieres syndrome]
+{{Esterases}}
+{{gene-3-stub}}

TREX1: Difference between revisions

Revision as of 23:24, 30 November 2017

Contents

Function

clinical relevance

References

Further reading

External links

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