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

More general terms

• exodeoxyribonuclease
• nuclear protein
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=11277
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:11277
• OMIM: https://mirror.omim.org/entry/152700
• OMIM: https://mirror.omim.org/entry/192315
• OMIM: https://mirror.omim.org/entry/225750
• OMIM: https://mirror.omim.org/entry/606609
• OMIM: https://mirror.omim.org/entry/610448
• UniProt: http://www.uniprot.org/uniprot/Q9NSU2.html