Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	11277
Gene name	Three prime repair exonuclease 1
Gene symbol	TREX1
Synonyms (NCBI Gene)	AGS1CRVDRN3HERNSRVCLS
Chromosome	3
Chromosome location	3p21.31
Summary	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

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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
GO:0002251	Process	Organ or tissue specific immune response	IEA
GO:0002253	Process	Activation of immune response	IEA
GO:0002281	Process	Macrophage activation involved in immune response	IEA
GO:0002320	Process	Lymphoid progenitor cell differentiation	IEA
GO:0002383	Process	Immune response in brain or nervous system	IEA
GO:0002437	Process	Inflammatory response to antigenic stimulus	IEA
GO:0002457	Process	T cell antigen processing and presentation	IEA
GO:0002637	Process	Regulation of immunoglobulin production	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003015	Process	Heart process	IEA
GO:0003228	Process	Atrial cardiac muscle tissue development	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003690	Function	Double-stranded DNA binding	IEA
GO:0003697	Function	Single-stranded DNA binding	IEA
GO:0003697	Function	Single-stranded DNA binding	TAS	10391904
GO:0004518	Function	Nuclease activity	IEA
GO:0004527	Function	Exonuclease activity	IEA
GO:0004529	Function	DNA exonuclease activity	IEA
GO:0005515	Function	Protein binding	IPI	16818237, 25416956, 25910212, 32296183, 32814053
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	NAS	10391904
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	33476576
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0006091	Process	Generation of precursor metabolites and energy	IEA
GO:0006110	Process	Regulation of glycolytic process	IEA
GO:0006259	Process	DNA metabolic process	IEA
GO:0006259	Process	DNA metabolic process	ISS
GO:0006260	Process	DNA replication	IEA
GO:0006260	Process	DNA replication	NAS	10391904
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	TAS	10393201
GO:0006298	Process	Mismatch repair	NAS	10391904
GO:0006304	Process	DNA modification	IEA
GO:0006308	Process	DNA catabolic process	IBA
GO:0006308	Process	DNA catabolic process	IEA
GO:0006310	Process	DNA recombination	NAS	10391904
GO:0006954	Process	Inflammatory response	IEA
GO:0006955	Process	Immune response	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0008250	Component	Oligosaccharyltransferase complex	IEA
GO:0008296	Function	3'-5'-DNA exonuclease activity	IBA
GO:0008296	Function	3'-5'-DNA exonuclease activity	IDA	16818237, 33476576
GO:0008296	Function	3'-5'-DNA exonuclease activity	IEA
GO:0008296	Function	3'-5'-DNA exonuclease activity	ISS
GO:0008296	Function	3'-5'-DNA exonuclease activity	TAS	10393201
GO:0008301	Function	DNA binding, bending	IEA
GO:0008311	Function	Double-stranded DNA 3'-5' DNA exonuclease activity	IDA	33476576
GO:0008311	Function	Double-stranded DNA 3'-5' DNA exonuclease activity	IEA
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0008408	Function	3'-5' exonuclease activity	IDA	10391904
GO:0008408	Function	3'-5' exonuclease activity	IEA
GO:0009411	Process	Response to UV	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019217	Process	Regulation of fatty acid metabolic process	IEA
GO:0019222	Process	Regulation of metabolic process	IEA
GO:0031571	Process	Mitotic G1 DNA damage checkpoint signaling	IEA
GO:0032197	Process	Retrotransposition	IEA
GO:0032405	Function	MutLalpha complex binding	IDA
GO:0032407	Function	MutSalpha complex binding	IDA
GO:0032479	Process	Regulation of type I interferon production	IEA
GO:0032558	Function	Adenyl deoxyribonucleotide binding	IEA
GO:0032680	Process	Regulation of tumor necrosis factor production	IEA
GO:0032993	Component	Protein-DNA complex	IEA
GO:0034599	Process	Cellular response to oxidative stress	IEA
GO:0034614	Process	Cellular response to reactive oxygen species	IEA
GO:0034644	Process	Cellular response to UV	IEA
GO:0035458	Process	Cellular response to interferon-beta	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0043277	Process	Apoptotic cell clearance	IEA
GO:0043457	Process	Regulation of cellular respiration	IEA
GO:0043596	Component	Nuclear replication fork	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0045088	Process	Regulation of innate immune response	IEA
GO:0045184	Process	Establishment of protein localization	IEA
GO:0045824	Process	Negative regulation of innate immune response	IDA	33476576
GO:0046872	Function	Metal ion binding	IEA
GO:0046872	Function	Metal ion binding	NAS	10391904
GO:0046890	Process	Regulation of lipid biosynthetic process	IEA
GO:0050699	Function	WW domain binding	IEA
GO:0050727	Process	Regulation of inflammatory response	IEA
GO:0050821	Process	Protein stabilization	IEA
GO:0050863	Process	Regulation of T cell activation	IEA
GO:0051607	Process	Defense response to virus	IEA
GO:0060337	Process	Type I interferon-mediated signaling pathway	IEA
GO:0060339	Process	Negative regulation of type I interferon-mediated signaling pathway	IEA
GO:0061635	Process	Regulation of protein complex stability	IEA
GO:0071357	Process	Cellular response to type I interferon	IEA
GO:0071480	Process	Cellular response to gamma radiation	IEA
GO:0072711	Process	Cellular response to hydroxyurea	IEA
GO:0097281	Process	Immune complex formation	IEA
GO:0140896	Process	CGAS/STING signaling pathway	IDA	32911482, 32912999
GO:0160049	Process	Negative regulation of cGAS/STING signaling pathway	IDA	33476576
GO:1904161	Process	DNA synthesis involved in UV-damage excision repair	IEA
GO:1905671	Process	Regulation of lysosome organization	IEA

MIM	HGNC	e!Ensembl
606609	12269	ENSG00000213689

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

	KEGG		Reactome
	Cytosolic DNA-sensing pathway		Regulation by TREX1 IRF3-mediated induction of type I IFN

1545

Show/Hide Causal Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Aicardi Goutieres syndrome	Likely pathogenic; Pathogenic	rs79318303	RCV003153362
Aicardi-Goutieres syndrome 1	Likely pathogenic; Pathogenic	rs1354160835, rs746384382, rs748914604, rs2107255865, rs74689946, rs77371662, rs74876396, rs78762691, rs76642637, rs78300695, rs79318303, rs781199890, rs2107255387, rs2107265977, rs2107254550 View all (42 more)	RCV001381941 RCV001380882 RCV001866193 RCV002286847 RCV000114323 RCV000114325 RCV000114326 RCV000114327 RCV000114328 RCV000114330 RCV000114334 RCV001869598 RCV001824110 RCV001971387 RCV001942306 RCV001952479 RCV001972795 RCV001953552 RCV001944393 RCV003774745 RCV003152792 RCV000004396 RCV000004398 RCV000004399 RCV000004400 RCV005031387 RCV000114331 RCV000114329 RCV002667197 RCV000191137 RCV003055644 RCV000490271 RCV003228864 RCV001251136 RCV005025421 RCV003448553 RCV003782646 RCV003787660 RCV003791867 RCV003807754 RCV003807761 RCV003806216 RCV003791181 RCV003803990 RCV003799082 RCV003801502 RCV003800676 RCV003807097 RCV003815341 RCV000408633 RCV000795266 RCV002528907 RCV000754080 RCV000761485 RCV003768447 RCV000853385 RCV001054687 RCV001041750 RCV001045764 RCV001036420 RCV001169857 RCV001262861
Aicardi-Goutieres syndrome 1, autosomal dominant	Pathogenic	rs78846775, rs121908117	RCV000004402 RCV000004405
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy	Pathogenic	rs763229085	RCV002282434
Chilblain lupus	Likely pathogenic; Pathogenic	rs1575292873, rs121908117	RCV001804149 RCV001804150
Chilblain lupus 1	Likely pathogenic; Pathogenic	rs1354160835, rs746384382, rs748914604, rs2107255865, rs74689946, rs77371662, rs76642637, rs78300695, rs79318303, rs781199890, rs2107265977, rs2107254550, rs2107256093, rs747399274, rs2107258834 View all (31 more)	RCV001381941 RCV001380882 RCV001866193 RCV001730099 RCV003764807 RCV000850612 RCV002513942 RCV001384732 RCV000805420 RCV001869598 RCV001971387 RCV001942306 RCV001952479 RCV001972795 RCV001953552 RCV001944393 RCV003774745 RCV000850611 RCV001384591 RCV001063407 RCV005031387 RCV002512754 RCV000819829 RCV002667197 RCV001857681 RCV003055644 RCV000806372 RCV001859564 RCV005025421 RCV003782646 RCV003787660 RCV003791867 RCV003807754 RCV003807761 RCV003806216 RCV003791181 RCV003803990 RCV003799082 RCV003801502 RCV003800676 RCV003807097 RCV003815341 RCV000795266 RCV002528907 RCV003768447 RCV001054687 RCV001041750 RCV001045764 RCV001036420
Neurodevelopmental disorder	Likely pathogenic	rs2530034152	RCV003389160
Retinal dystrophy	Likely pathogenic	rs2530048530	RCV003389581
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Likely pathogenic; Pathogenic	rs1354160835, rs746384382, rs748914604, rs74689946, rs77371662, rs76642637, rs78300695, rs79318303, rs781199890, rs2107265977, rs2107254550, rs2107256093, rs747399274, rs2107258834, rs763966000 View all (32 more)	RCV001381941 RCV001380882 RCV001866193 RCV003764807 RCV000850612 RCV002513942 RCV001384732 RCV000805420 RCV001809208 RCV001971387 RCV001942306 RCV001952479 RCV001972795 RCV001953552 RCV001944393 RCV002225175 RCV003774745 RCV000850611 RCV001384591 RCV001063407 RCV005031387 RCV002512754 RCV000819829 RCV000004406 RCV002667197 RCV001857681 RCV003055644 RCV000806372 RCV001859564 RCV005025421 RCV003782646 RCV003787660 RCV003791867 RCV003807754 RCV003807761 RCV003806216 RCV003791181 RCV003803990 RCV003799082 RCV003801502 RCV003800676 RCV003807097 RCV003815341 RCV000004403 RCV002528907 RCV003768447 RCV001054687 RCV001041750 RCV001045764 RCV001036420
See cases	Likely pathogenic; Pathogenic	rs770607110	RCV002253147
Systemic lupus erythematosus	Likely pathogenic; Pathogenic	rs76642637, rs79318303, rs72556554, rs74556809, rs1575292873, rs760594164, rs748914604, rs773808155, rs2530037311, rs1331920811, rs2040385695	RCV005031598 RCV002490761 RCV005025005 RCV005025006 RCV005031387 RCV005031788 RCV002494829 RCV005025421 RCV005038520 RCV002489572 RCV001197053
Systemic lupus erythematosus, susceptibility to	Likely pathogenic; Pathogenic	rs72556554	RCV000004397
Thrombotic microangiopathy	Likely pathogenic	rs2107265602	RCV001849584
TREX1-related disorder	Likely pathogenic; Pathogenic	rs748914604, rs78300695, rs79318303, rs72556554, rs78218009, rs756664985, rs1331920811	RCV005250194 RCV001731376 RCV004529915 RCV004540989 RCV004532286 RCV004535288 RCV000779412 RCV004528350

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Intellectual disability	Conflicting classifications of pathogenicity	rs200440528	RCV005626810
Vascular dementia	Uncertain significance	rs370504038	RCV002051725

Show/Hide Text Mining Associations (81)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Brain Diseases	Associate	21270825
CADASIL	Associate	23602593, 35885962
Calcinosis	Associate	26581299
Carcinoma Hepatocellular	Associate	33006365
Carcinoma Squamous Cell	Stimulate	30674977
Cerebral Palsy	Associate	33407657
Cerebral Small Vessel Diseases	Associate	30411414, 30859180, 31719132, 35307828, 35885962
Cerebrovascular Disorders	Associate	35885962
Chilblain lupus 1	Associate	17357087, 18805785, 21808053, 24616097, 28334850, 30673078, 32293470, 34400195, 35911727
Chilblains	Associate	35964089
Chromothripsis	Associate	26687355, 32719516
Cognition Disorders	Associate	33516249, 35307828
Colorectal Neoplasms	Associate	35181726
Connective Tissue Diseases	Associate	24224166
Death	Associate	17846997
Dermatitis	Associate	31861565
Dyskinesia Familial with Facial Myokymia	Associate	33407657, 38124732
Esophageal Squamous Cell Carcinoma	Associate	24551299
Fetal Growth Retardation	Associate	36814213
Genetic Diseases Inborn	Associate	23602593
Glioma	Associate	23578789
Heart Diseases	Associate	37100811
Hereditary Autoinflammatory Diseases	Associate	29959219, 33042144, 36027857
HIV Infections	Stimulate	34105995
HTLV I Infections	Associate	31861565
Hyperlipidemias	Associate	33516249
Hypersensitivity Immediate	Associate	33407657, 35911727
Hypertension	Associate	33516249
Hypertension Pulmonary	Associate	30219631
Hypertensive Retinopathy	Associate	33516249
Hypoalbuminemia	Associate	33516249
Immune System Diseases	Associate	21808053, 33476576
Infections	Associate	17846997, 31861565, 35964089
Inflammation	Associate	28803918, 37592229
Influenza Human	Associate	37652009
Intracranial Hypertension	Associate	33516249
Kidney Diseases	Associate	33516249
Leukoencephalopathies	Associate	26581299, 34167956
Lupus Erythematosus Cutaneous	Associate	30673078
Lupus Erythematosus Systemic	Associate	18805785, 21270825, 21808053, 21937424, 23979357, 26150267, 28334850, 28803918, 34400195, 35911727, 35964089, 36586539, 38124732
Lupus Vasculitis Central Nervous System	Associate	26150267
Lymphoma B Cell	Associate	40243506
Lymphoma Non Hodgkin	Associate	40243506
Melanoma	Associate	23578789
Mesenteric Ischemia	Associate	33516249
Microcephaly	Associate	31559893
Migraine Disorders	Associate	37592229
Muscle Spasticity	Associate	35964089
Neoplasms	Associate	19237629, 19617005, 23578789, 26687355, 30674977, 35181726, 36745566, 40243506
Neuroblastoma	Associate	26646589
Neurodegenerative Diseases	Associate	21270825, 36027857
Neurologic Manifestations	Associate	26150267
Neurotoxicity Syndromes	Associate	28803918
Optic Disk Drusen	Associate	39865650
Pancreatic Neoplasms	Associate	19237629, 21212431
Paraparesis Tropical Spastic	Associate	31861565
Persistent Vegetative State	Associate	35964089
Precancerous Conditions	Stimulate	30674977
Primary Immunodeficiency Diseases	Associate	36586539
Raynaud Disease	Associate	30411414
Retinal Diseases	Associate	18805785, 34167956
Retinal Vasculitis	Associate	26691497
Scleroderma Systemic	Associate	24224166
Seizures	Associate	21270825, 33516249
Sjogren's Syndrome	Associate	24224166
Skin Diseases	Associate	33407657
Skin Manifestations	Associate	26150267, 31861565
Small Cell Lung Carcinoma	Associate	32586373
Stroke	Associate	32106772, 35803721
Uterine Cervical Neoplasms	Associate	30674977
Vasculopathy Retinal With Cerebral Leukodystrophy	Associate	18805785, 23602593, 26691497, 29718010, 30411414, 33516249, 33736510, 34107918

TREX1 (three prime repair exonuclease 1)