Entity Details

Primary name TREX1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9NSU2
EntryNameTREX1_HUMAN
FullNameThree-prime repair exonuclease 1
TaxID9606
Evidenceevidence at protein level
Length314
SequenceStatuscomplete
DateCreated2004-05-24
DateModified2021-06-02

Ontological Relatives

GenesTREX1

GO terms

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GOName
GO:0000287 magnesium ion binding
GO:0000738 DNA catabolic process, exonucleolytic
GO:0001568 blood vessel development
GO:0001822 kidney development
GO:0002253 activation of immune response
GO:0002281 macrophage activation involved in immune response
GO:0002320 lymphoid progenitor cell differentiation
GO:0002383 immune response in brain or nervous system
GO:0002437 inflammatory response to antigenic stimulus
GO:0002457 T cell antigen processing and presentation
GO:0002637 regulation of immunoglobulin production
GO:0003007 heart morphogenesis
GO:0003015 heart process
GO:0003228 atrial cardiac muscle tissue development
GO:0003690 double-stranded DNA binding
GO:0003697 single-stranded DNA binding
GO:0005635 nuclear envelope
GO:0005737 cytoplasm
GO:0005789 endoplasmic reticulum membrane
GO:0005829 cytosol
GO:0006091 generation of precursor metabolites and energy
GO:0006110 regulation of glycolytic process
GO:0006259 DNA metabolic process
GO:0006260 DNA replication
GO:0006281 DNA repair
GO:0006298 mismatch repair
GO:0006304 DNA modification
GO:0006310 DNA recombination
GO:0008250 oligosaccharyltransferase complex
GO:0008296 3'-5'-exodeoxyribonuclease activity
GO:0008301 DNA binding, bending
GO:0008340 determination of adult lifespan
GO:0008408 3'-5' exonuclease activity
GO:0008853 exodeoxyribonuclease III activity
GO:0019217 regulation of fatty acid metabolic process
GO:0032197 transposition, RNA-mediated
GO:0032405 MutLalpha complex binding
GO:0032407 MutSalpha complex binding
GO:0032479 regulation of type I interferon production
GO:0032508 DNA duplex unwinding
GO:0032558 adenyl deoxyribonucleotide binding
GO:0032680 regulation of tumor necrosis factor production
GO:0032993 protein-DNA complex
GO:0034614 cellular response to reactive oxygen species
GO:0035458 cellular response to interferon-beta
GO:0035781 CD86 biosynthetic process
GO:0042803 protein homodimerization activity
GO:0043277 apoptotic cell clearance
GO:0043457 regulation of cellular respiration
GO:0043596 nuclear replication fork
GO:0045184 establishment of protein localization
GO:0046872 metal ion binding
GO:0046890 regulation of lipid biosynthetic process
GO:0050699 WW domain binding
GO:0050727 regulation of inflammatory response
GO:0050790 regulation of catalytic activity
GO:0050821 protein stabilization
GO:0050863 regulation of T cell activation
GO:0051607 defense response to virus
GO:0060337 type I interferon signaling pathway
GO:0060339 negative regulation of type I interferon-mediated signaling pathway
GO:0061635 regulation of protein complex stability
GO:0071480 cellular response to gamma radiation
GO:0072394 obsolete detection of stimulus involved in cell cycle checkpoint
GO:0072421 obsolete detection of DNA damage stimulus involved in DNA damage checkpoint
GO:0072711 cellular response to hydroxyurea
GO:0097281 immune complex formation
GO:1904161 DNA synthesis involved in UV-damage excision repair
GO:1905671 regulation of lysosome organization

Subcellular Location

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Subcellular Location
Cytoplasm
Endoplasmic reticulum membrane
Nucleus

Domains

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DomainNameCategoryType
IPR012337 Ribonuclease H-like superfamilyFamilyHomologous superfamily
IPR013520 Exonuclease, RNase T/DNA polymerase IIIDomainDomain
IPR036397 Ribonuclease H superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
610448 OMIMChilblain lupus 1 (CHBL1)A rare cutaneous form of lupus erythematosus. Affected individuals present with painful bluish-red papular or nodular lesions of the skin in acral locations precipitated by cold and wet exposure. The disease is caused by variants affecting the gene represented in this entry.
192315 OMIMVasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations (RVCLS)An adult-onset, autosomal dominant endotheliopathy affecting the microvessels of the brain. It results in central nervous system degeneration and retinopathy, with progressive loss of vision, stroke, motor impairment, and cognitive decline. The ocular manifestations are characterized by telangiectasias, microaneurysms and retinal capillary obliteration starting in the macula. Diseased cerebral white matter has prominent small infarcts that often coalesce to pseudotumors. A subset of patients have systemic vascular involvement that can manifest as Raynaud phenomenon, micronodular cirrhosis, and glomerular dysfunction. The disease is caused by variants affecting the gene represented in this entry.
225750 OMIMAicardi-Goutieres syndrome 1 (AGS1)A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. The disease is caused by variants affecting the gene represented in this entry.
152700 OMIMSystemic lupus erythematosus (SLE)A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. Disease susceptibility is associated with variants affecting the gene represented in this entry. Enhanced immune sensing of oxidized DNA may be involved in the phototoxicity experienced by SLE patients. Exposure to UV-light produces DNA oxidative damage. Oxidized DNA being a poor TREX1 substrate, it accumulates in skin, leading to enhanced auto-immune reactivity and eventually skin lesions (PubMed:23993650).

Interactions

40 interactions

InteractorPartnerSourcesPublicationsLink
TREX1_HUMANKR107_HUMANBioGRID, IntAct25416956 25910212 details
TREX1_HUMANCRTP1_HUMANBioGRID, IntAct32296183 details
TREX1_HUMANCD81_HUMANBioGRID, IntAct32296183 details
TREX1_HUMANINGR2_HUMANBioGRID, IntAct32296183 details
TREX1_HUMANT4S18_HUMANBioGRID, IntAct32296183 details
TREX1_HUMANDHB13_HUMANBioGRID, IntAct32296183 details
TREX1_HUMANCLD22_HUMANBioGRID, IntAct32296183 details
TREX1_HUMANTM86B_HUMANBioGRID, IntAct32296183 details
TREX1_HUMANRNK_HUMANBioGRID, IntAct32296183 details
TREX1_HUMANFNDC9_HUMANBioGRID, IntAct32296183 details
TREX1_HUMANSOAT_HUMANBioGRID, IntAct32296183 details
TREX1_HUMANPEX12_HUMANBioGRID, IntAct32296183 details
TREX1_HUMANCRUM3_HUMANBioGRID, IntAct32296183 details
TREX1_HUMANRELL1_HUMANBioGRID, IntAct32296183 details
TREX1_HUMANTMX2_HUMANBioGRID, IntAct32296183 details
TREX1_HUMANS7A14_HUMANBioGRID, IntAct32296183 details
TREX1_HUMANMF14B_HUMANBioGRID, IntAct32296183 details
TREX1_HUMANCY561_HUMANBioGRID, IntAct32296183 details
TREX1_HUMANAQP6_HUMANBioGRID, IntAct32296183 details
TREX1_HUMANFFAR3_HUMANBioGRID, IntAct32296183 details
TREX1_HUMANTM207_HUMANBioGRID, IntAct32296183 details
TREX1_HUMANGPR42_HUMANBioGRID, IntAct32296183 details
TREX1_HUMANGKN1_HUMANBioGRID, IntAct32296183 details
TREX1_HUMANTM205_HUMANBioGRID, IntAct32296183 details
TREX1_HUMANEBP_HUMANBioGRID, IntAct32296183 details
TREX1_HUMANCXA5_HUMANBioGRID, IntAct32296183 details
TREX1_HUMANELOV4_HUMANBioGRID, IntAct32296183 details
TREX1_HUMANF174A_HUMANBioGRID, IntAct32296183 details
TREX1_HUMANPRND_HUMANBioGRID, IntAct32296183 details
TREX1_HUMANTM45B_HUMANBioGRID, IntAct32296183 details
TREX1_HUMANJAGN1_HUMANBioGRID, IntAct32296183 details
TREX1_HUMANSC11C_HUMANBioGRID, IntAct32296183 details
TREX1_HUMANJPH3_HUMANIntAct32814053 details
TREX1_HUMANRIBC2_HUMANBioGRID16189514 details
TREX1_HUMANIFT20_HUMANBioGRID16189514 details
TREX1_HUMANSET_HUMANBioGRID16818237 details
TREX1_HUMANVKOR1_HUMANBioGRID21103663 details
TREX1_HUMANUBQL1_HUMANBioGRID23979357 details
TREX1_HUMANCHCH2_HUMANBioGRID21516116 details
TREX1_HUMANS22A2_HUMANBioGRID31318583 details