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three prime repair exonuclease 1; 3'-5' exonuclease TREX1; Dnase III (TREX1)
Function:
- exodeoxyribonuclease with a preference for dsDNA with mismatched 3' termini
- may play a role in DNA repair
- exonucleolytic cleavage in the 3'- to 5'- direction to yield nucleoside 5'-phosphates
Cofactor:
- Mg+2, required for activity
- substitution with Mn+2 results in partial activity (putative)
Structure:
- homodimer
- belongs to the exonuclease superfamily, TREX family
Compartment: nucleus (putative)
Alternative splicing: named isoforms=3
Expression:
- detected in thymus, spleen, liver, brain, heart, small intestine & colon
Pathology:
- defects in TREX1 are the cause of Aicardi-Goutieres syndrome type 1
- defects in TREX1 are a cause of susceptibility to systemic lupus erythematosus (SLE)
- defects in TREX1 are the cause of chilblain lupus
- defects in TREX1 are the cause of cerebroretinal vasculopathy
Genetics:
- the gene for this protein is either identical to or adjacent to that of ATRIP
- some of the mRNAs that encode ATRIP also encode TREX1 in another reading frame
General
exodeoxyribonuclease
nuclear protein
phosphoprotein
Properties
SIZE: entity length = 369 aa
MW = 39 kD
COMPARTMENT: cell nucleus
MOTIF: Ser phosphorylation site {S133}
Ser phosphorylation site {S222}
Ser phosphorylation site {S316}
Database Correlations
OMIM correlations
MORBIDMAP 606609
UniProt Q9NSU2
Entrez Gene 11277
Kegg hsa:11277
ENZYME 3.1.11.2
References
- UniProt :accession Q9NSU2
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/TREX1
- NIEHS-SNPs
http://egp.gs.washington.edu/data/trex1/