Property Summary

NCBI Gene PubMed Count 76
Grant Count 82
R01 Count 62
Funding $14,911,522.25
PubMed Score 140.27
PubTator Score 130.00

Knowledge Summary

Patent

No data available

Synonym

Accession Q9NSU2 B2RCN9 Q8TEU2 Q9BPW1 Q9Y4X2
Symbols CRV
AGS1
DRN3
HERNS

Gene

 GWAS Trait (1)

Gene RIF (48)

PMID Text
26567509 CDK11 was found associated with the TREX/THOC, which recruited this kinase to DNA. Once at the viral genome, CDK11 phosphorylated serines at position 2 in the CTD of RNAPII, which increased levels of cleavage and polyadenylation factors at the HIV 3' end. In its absence, cleavage of viral transcripts was greatly attenuated.
25906927 Aicardi-Goutieres syndrome 1 is caused by mutations in the three prime repair exonuclease 1 gene (TREX1, MIM 606609).
25731743 Here we briefly describe the human diseases so-far associated with mutations in TREX1, which include Aicardi-Goutieres syndrome, familial chilblain lupus, systemic lupus erythematosus and retinal vasculopathy with cerebral leukodystrophy
25517357 Unlike previously reported TREX1 mutations, which affect Exo I or Exo II domains, the mutation presented here alters the Exo III domain, suggesting a role of mutations within the catalytic Exo domains in the pathogenesis of familial chilblain lupus
25278026 Data suggest that the 3'-5' DNA exonuclease TREX1 may contribute to stabilization of poly(ADP-ribose) polymerase-1 (PARP1) levels in the DNA damage response and its activity.
25213617 Functional analysis of retinal vasculopathy with cerebral leukodystrophy-associated TREX1 T270 frameshift-mutated fibroblasts showed a prevalent localization of the protein in the cytosol, rather than in the perinuclear region
25162766 The authors observed that the minor allele of SNP rs3135941 in Trex1 is associated with faster HIV-1 disease progression.
24813208 knocking out the DNA sensor cyclic GMP-AMP synthase completely abrogates spontaneous induction of IFN-stimulated genes in TREX1-deficient cells.
24616097 These data provide compelling evidence for the required TREX1 dimeric structure for full catalytic function.
24300241 A nationwide survey of Aicardi-Goutieres syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions in Japan.
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AA Sequence

MGPGARRQGRIVQGRPEMCFCPPPTPLPPLRILTLGTHTPTPCSSPGSAAGTYPTMGSQALPPGPMQTLI      1 - 70
FFDMEATGLPFSQPKVTELCLLAVHRCALESPPTSQGPPPTVPPPPRVVDKLSLCVAPGKACSPAASEIT     71 - 140
GLSTAVLAAHGRQCFDDNLANLLLAFLRRQPQPWCLVAHNGDRYDFPLLQAELAMLGLTSALDGAFCVDS    141 - 210
ITALKALERASSPSEHGPRKSYSLGSIYTRLYGQSPPDSHTAEGDVLALLSICQWRPQALLRWVDAHARP    211 - 280
FGTIRPMYGVTASARTKPRPSAVTTTAHLATTRNTSPSLGESRGTKDLPPVKDPGALSREGLLAPLGLLA    281 - 350
ILTLAVATLYGLSLATPGE                                                       351 - 369
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Text Mined References (80)

PMID Year Title
26567509 2015 CDK11 in TREX/THOC Regulates HIV mRNA 3' End Processing.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25906927 2015 Genetics and molecular biology of brain calcification.
25731743 2015 Human disease phenotypes associated with mutations in TREX1.
25517357 2015 Familial chilblain lupus due to a novel mutation in the exonuclease III domain of 3' repair exonuclease 1 (TREX1).
25416956 2014 A proteome-scale map of the human interactome network.
25278026 2014 The 3'-5' DNA exonuclease TREX1 directly interacts with poly(ADP-ribose) polymerase-1 (PARP1) during the DNA damage response.
25213617 2015 TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy.
25162766 2014 Genetic variation in Trex1 affects HIV-1 disease progression.
24813208 2014 TREX1 deficiency triggers cell-autonomous immunity in a cGAS-dependent manner.
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