NP_057465
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Related Accession #
NCBI Official Synonym Full Names
three prime repair exonuclease 1
NCBI Protein Information
three-prime repair exonuclease 1
UniProt Protein Name
Three-prime repair exonuclease 1
UniProt Synonym Protein Names
3'-5' exonuclease TREX1; DNase III
UniProt Entry Name
TREX1_HUMAN
NCBI Summary for TREX1
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]
UniProt Comments for TREX1
TREX1: the major 3' DNA exonuclease in mammalian cells. Normally associates with the endoplasmic reticulum (ER). Translocates to the nucleus at S phase after DNA damage by gamma-irradiation or hydroxyurea. Trex1-deficient cells show defective G1/S transition, with single-stranded DNA molecules persisting after S phase and accumulating in the ER. Degrades ssDNA. Prevents chronic checkpoint activation and inappropriate immune activation. Mutations cause Aicardi-Goutieres syndrome, an autoimmune disorder. Trex1a(-/-) mice have autoinflammatory responses. The gene for this protein is either identical to or adjacent to that of ATRIP. Some of the mRNAs that encode TREX1 also encode ATRIP in another reading frame. Three alternatively spliced human isoforms have been reported.
Protein type: EC 3.1.11.2; Cell cycle regulation; DNA-binding; DNA repair, damage; Deoxyribonuclease
Chromosomal Location of Human Ortholog: 3p21.31
Cellular Component: endoplasmic reticulum membrane; nucleolus; nuclear envelope; nucleus; cytosol
Molecular Function: protein homodimerization activity; metal ion binding; double-stranded DNA binding; exodeoxyribonuclease III activity; 3'-5'-exodeoxyribonuclease activity; MutLalpha complex binding; adenyl deoxyribonucleotide binding; 3'-5' exonuclease activity; MutSalpha complex binding; single-stranded DNA binding
Biological Process: regulation of interferon type I production; mismatch repair; positive regulation of interferon type I production; innate immune response; DNA replication; DNA repair; DNA catabolic process, exonucleolytic; DNA metabolic process; DNA recombination
Disease: Chilblain Lupus 1; Vasculopathy, Retinal, With Cerebral Leukodystrophy; Aicardi-goutieres Syndrome 1; Systemic Lupus Erythematosus
Research Articles on TREX1
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Products associated with anti-TREX1 antibody
Pathways associated with anti-TREX1 antibody
Diseases associated with anti-TREX1 antibody
Organs/Tissues associated with anti-TREX1 antibody
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