AlphaFold predicted structure
TREX1 · Q9NSU2
Mean pLDDT
80.3/ 100
Confident
314 residues
Confidence breakdown
- Very high(≥ 90)65%
- Confident(70–90)4%
- Low(50–70)8%
- Very low(< 50)23%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
TREX1
Chr 3p21.31three prime repair exonuclease 1
- Aliases:
- DRN3
- MANE:
- ENST00000625293.3
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Adult onset leukodystrophy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalAdult onset neurodegenerative disorder
BOTH monoallelic and biallelic, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalCOVID-19 research
BOTH monoallelic and biallelic, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalFamilial cerebral small vessel disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
Aicardi-Goutieres syndrome 1
0.83retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
0.79systemic lupus erythematosus
0.78chilblain lupus 1
0.75Aicardi-Goutières syndrome
0.72Cerebroretinal vasculopathy
0.71HERNS syndrome
0.71Hereditary vascular retinopathy
0.71Retinal vasculopathy and cerebral leukodystrophy
0.67chilblain lupus
0.57
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Three-prime repair exonuclease 1
Major cellular 3'-to-5' DNA exonuclease which digests single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA) with mismatched 3' termini (PubMed:10391904, PubMed:10393201, PubMed:17293595). Prevents cell-intrinsic initiation of autoimmunity (PubMed:10391904, PubMed:10393201, PubMed:17293595). Acts by metabolizing DNA fragments from endogenous retroelements, including L1, LTR and SINE elements (PubMed:10391904, PubMed:10393201, PubMed:17293595). Plays a key role in degradation of DNA fragments at cytosolic micronuclei arising from genome instability: its association with the endoplasmic reticulum membrane directs TREX1 to ruptured micronuclei, leading to micronuclear DNA degradation (PubMed:33476576). Micronuclear DNA degradation is required to limit CGAS activation and subsequent inflammation (PubMed:33476576). Unless degraded, these DNA fragments accumulate in the cytosol and activate the cGAS-STING innate immune signaling, leading to the production of type I interferon (PubMed:33476576). Prevents chronic ATM-dependent checkpoint activation, by processing ssDNA polynucleotide species arising from the processing of aberrant DNA replication intermediates (PubMed:18045533). Inefficiently degrades oxidized DNA, such as that generated upon antimicrobial reactive oxygen production or upon absorption of UV light (PubMed:23993650). During GZMA-mediated cell death, contributes to DNA damage in concert with NME1 (PubMed:16818237). NME1 nicks one strand of DNA and TREX1 removes bases from the free 3' end to enhance DNA damage and prevent DNA end reannealing and rapid repair (PubMed:16818237)
Diseases associated with TREX1
Curated MONDO disease pages that list TREX1 among their top associated genes.