Aliases for TREX1 Gene
External Ids for TREX1 Gene
Previous HGNC Symbols for TREX1 Gene
Previous GeneCards Identifiers for TREX1 Gene
This gene encodes a nuclear protein with 3' exonuclease activity. The encoded protein may play a role in DNA repair and serve as a proofreading function for DNA polymerase. Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, Cree encephalitis, and other diseases of the immune system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]
GeneCards Summary for TREX1 Gene
TREX1 (Three Prime Repair Exonuclease 1) is a Protein Coding gene. Diseases associated with TREX1 include aicardi-goutieres syndrome and hereditary endotheliopathy, retinopathy, nephropathy, and stroke. Among its related pathways are Immune System and Chks in Checkpoint Regulation. GO annotations related to this gene include nucleic acid binding and double-stranded DNA binding. An important paralog of this gene is TREX2.
UniProtKB/Swiss-Prot for TREX1 Gene
Major cellular 3-to-5 DNA exonuclease which digests single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA) with mismatched 3 termini. Prevents cell-intrinsic initiation of autoimmunity. Acts by metabolizing DNA fragments from endogenous retroelements, including L1, LTR and SINE elements. Unless degraded, these DNA fragments accumulate in the cytosol and activate the IFN-stimulatory DNA (ISD) response and innate immune signaling. Prevents chronic ATM-dependent checkpoint activation, by processing ssDNA polynucleotide species arising from the processing of aberrant DNA replication intermediates. Inefficiently degrades oxidized DNA, such as that generated upon antimicrobial reactive oxygen production or upon absorption of UV light. During GZMA-mediated cell death, contributes to DNA damage in concert with NME1. 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.