TREX1 wt Allele

Preferred Label : TREX1 wt Allele;

NCIt synonyms : DRN3; 3-Prime Repair Exonuclease 1 Gene; Aicardi-Goutieres Syndrome 1 Gene; Deoxyribonuclease III, DnaQ/MutD (E. coli)-Like Gene; HERNS; CRV; DNase III Gene; Three Prime Repair Exonuclease 1 wt Allele; 3 Prime Repair Exonuclease 1 Gene; AGS1;

NCIt definition : Human TREX1 wild-type allele is located in the vicinity of 3p21.31 and is approximately 3 kb in length. This allele, which encodes three prime repair exonuclease 1 protein, plays a role in DNA repair. Mutation of the gene is associated with Aicardi-Goutieres syndrome 1, Chilblain lupus, vasculopathy, retinal, with cerebral leukodystrophy, and increased susceptibility to systemic lupus erythematosus.;

NCIt note : GeneID 11277 was annotated as a single gene with two non-overlapping coding regions. GeneID 11277 now represents only the downstream coding region encoding three prime repair exonuclease 1 (TREX1). The upstream coding region encoding ATR-interacting protein (ATRIP) is represented by geneID 84126. (29 May 2007, EntrezGene);

GenBank Accession Number : AF151105;

Details

Origin ID

C51009;

UMLS CUI

C1706012;

Automatic exact mappings (from CISMeF team)
- Aicardi-goutieres syndrome 1 [OMIM Phenotype]
- Cerebroretinal vasculopathy [ORDO Disease]
- Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations [OMIM Phenotype]
- hernia [MeSH Descriptor]
- retinal vasculopathy with cerebral leukodystrophy [DO Concept]
- three prime repair exonuclease 1 [ORDO Gene]
OMIM relation
- 3-prime repair exonuclease 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 3p21.31 [NCIt concept]
gene_is_element_in_pathway
- Cancer Susceptibility Pathway [NCIt concept]
- Cytosolic DNA-Sensing Pathway [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- DNA Recombination Process [NCIt concept]
- DNA Repair [NCIt concept]
- DNA Replication [NCIt concept]
- Hydrolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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