TREX1 (three prime repair exonuclease 1)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
11277
Gene name Gene Name - the full gene name approved by the HGNC.
Three prime repair exonuclease 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TREX1
Synonyms (NCBI Gene) Gene synonyms aliases
AGS1, CRV, DRN3, HERNS, RVCLS
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p21.31
Summary Summary of gene provided in NCBI Entrez 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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(109)
GO ID Ontology Definition Evidence Reference
GO:0000077 Process DNA damage checkpoint signaling IEA
GO:0000287 Function Magnesium ion binding IEA
GO:0001568 Process Blood vessel development IEA
GO:0001822 Process Kidney development IEA
GO:0002250 Process Adaptive immune response IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606609 12269 ENSG00000213689
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9NSU2
Protein name Three-prime repair exonuclease 1 (EC 3.1.11.2) (3'-5' exonuclease TREX1) (Deoxyribonuclease III) (DNase III)
Protein function 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
PDB 7TQN , 7TQO , 7TQP , 7TQQ , 8VL7 , 9AVA
Family and domains
Tissue specificity TISSUE SPECIFICITY: Detected in thymus, spleen, liver, brain, heart, small intestine and colon. {ECO:0000269|PubMed:10393201, ECO:0000269|PubMed:11278605}.
Sequence 
MGSQALPPGPMQTLIFFDMEATGLPFSQPKVTELCLLAVHRCALESPPTSQGPPPTVPPP
PRVVDKLSLCVAPGKACSPAASEITGLSTAVLAAHGRQCFDDNLANLLLAFLRRQPQPWC
LVAHNGDRYDFPLLQAELAMLGLTSALDGAFCVDSITALKALERASSPSEHGPRKSYSLG
SIYTRLYGQSPPDSHTAEGDVLALLSICQWRPQALLRWVDAHARPFGTIRPMYGVTASAR
TKPRPSAVTTTAHLATTRNTSPSLGESRGTKDLPPVKDPGALSREGLLAPLGLLAILTLA
VATLYGLSLATPGE
Sequence length 314
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Cytosolic DNA-sensing pathway   Regulation by TREX1
IRF3-mediated induction of type I IFN
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Aicardi Goutieres Syndrome aicardi-goutieres syndrome 1 rs78218009, rs78762691, rs1575293518, rs74556809, rs76642637, rs768724007, rs78408272, rs78300695, rs1575295176, rs79318303, rs1331920811, rs78846775, rs121908117, rs74689946, rs200773268
View all (6 more)		 N/A
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations rs79318303, rs1331920811, rs1560113283, rs1553820434 N/A
Systemic lupus erythematosus Systemic lupus erythematosus, susceptibility to rs72556554 N/A
Chilblain Lupus Erythematosus Chilblain lupus rs1575292873, rs121908117 N/A
Show/Hide Text Mining Associations (81)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute Retroviral Syndrome Associate 31861565
Adenocarcinoma Stimulate 30674977
Adrenoleukodystrophy Associate 28739201
Aicardi Goutieres syndrome Associate 17357087, 17846997, 18754903, 18805785, 19034401, 20131292, 21270825, 21808053, 21937424, 23592335, 23979357, 24183309, 24616097, 25604658, 25769924
View all (21 more)
Aicardi Syndrome Associate 32293470
Alopecia Neurologic Defects and Endocrinopathy Syndrome Associate 35964089
Arthritis Rheumatoid Associate 20496420
Ascites Associate 33516249
Autoimmune Diseases Associate 18805785, 21808053, 21937424, 23979357, 24224166, 24616097, 25278026, 25855793, 28334850, 28803918, 33606975, 35885962, 36745566, 37298611
Autoimmune Diseases Inhibit 34400195