TREX1 (three prime repair exonuclease 1)

2003-08-01 Affiliation

Identity

HGNC

TREX1

LOCATION

3p21.31

LOCUSID

11277

ALIAS

AGS1,CRV,DRN3,HERNS,RVCLS

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 11277
MIM: 606609
HGNC: 12269
Ensembl: ENSG00000213689

Variants:

dbSNP: 11277
ClinVar: 11277
TCGA: ENSG00000213689
COSMIC: TREX1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000213689	ENST00000433541	C9J052
ENSG00000213689	ENST00000444177	Q9NSU2
ENSG00000213689	ENST00000444177	Q5TZT0
ENSG00000213689	ENST00000456089	C9J052
ENSG00000213689	ENST00000492235	C9J052
ENSG00000213689	ENST00000625293	Q9NSU2
ENSG00000213689	ENST00000635452	C9J052

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Cytosolic DNA-sensing pathway	KEGG	ko04623
Cytosolic DNA-sensing pathway	KEGG	hsa04623
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Cytosolic sensors of pathogen-associated DNA	REACTOME	R-HSA-1834949
STING mediated induction of host immune responses	REACTOME	R-HSA-1834941
IRF3-mediated induction of type I IFN	REACTOME	R-HSA-3270619
Regulation of innate immune responses to cytosolic DNA	REACTOME	R-HSA-3134975
Regulation by TREX1	REACTOME	R-HSA-3248023

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
16845398	2006	Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.	268
20871604	2010	The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1.	221
17660818	2007	Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.	206
18045533	2007	Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease.	176
17357087	2007	Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.	97
17660820	2007	C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.	91
21270825	2011	Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort.	80
22893130	2012	TREX exposes the RNA-binding domain of Nxf1 to enable mRNA export.	71
17440703	2007	A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus.	64
24813208	2014	TREX1 deficiency triggers cell-autonomous immunity in a cGAS-dependent manner.	64

Citation

Dessen P

TREX1 (three prime repair exonuclease 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/42696/trex1