TREX1 Gene Summary [Human]
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 encephalitis, and other diseases of the immune system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]
Details
| Type | Protein Coding |
| Official Symbol | TREX1 |
| Official Name | three prime repair exonuclease 1 [Source:HGNC Symbol;Acc:HGNC:12269] |
| Ensembl ID | ENSG00000213689 |
| Bio databases IDs | |
| Aliases | three prime repair exonuclease 1 |
| Synonyms | AGS1, ATRIP, CRV, Dnase 3, DRN3, HERNS, RGD1309596, RVCLS, three prime repair exonuclease 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TREX1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- 3'-5' exonuclease
- nucleotide binding
- EXOIII
- WW domain binding
- DNA bending protein
- enzyme
- protein binding
- magnesium ion binding
- purine nucleotide binding
- identical protein binding
- 3'-5' exodeoxyribonuclease
- DNA binding
- double-stranded DNA specific 3'-5' exodeoxyribonuclease
- exodeoxyribonuclease
- binding protein
- single-stranded DNA binding
- DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
- double-stranded DNA binding
- adenyl nucleotide binding
- protein homodimerization
Pathways
Biological processes and signaling networks where the TREX1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- weight loss
- colitis
- hyperglycemia
- diabetic nephropathy
- autosomal dominant Aicardi-Goutieres syndrome type 1
- insulin-dependent diabetes mellitus
- systemic lupus erythematosus
- renal cell carcinoma
- TREX1-related type 1 interferonopathy
- splenomegaly
role in cell
- expression in
- induction in
- differentiation
- activation
- phosphorylation in
- quantity
- respiration
- cellular infiltration by
- stabilization in
- accumulation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- chromatin fraction
- Cytoplasm
- perinuclear region
- Endoplasmic Reticulum
- cytosol
- endoplasmic reticulum membrane
- nuclear foci
- replication fork
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TREX1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- CD86 biosynthetic process
- DNA repair
- transposition, RNA-mediated
- DNA replication
- determination of adult lifespan
- macrophage activation involved in immune response
- immune response in brain or nervous system
- negative regulation of innate immune response
- lymphoid progenitor cell differentiation
- DNA modification
- heart process
- T cell antigen processing and presentation
- heart morphogenesis
- atrial cardiac muscle tissue development
- inflammatory response to antigenic stimulus
- blood vessel development
- kidney development
- regulation of immunoglobulin production
- DNA duplex unwinding
- defense response to virus
- cellular response to interferon-beta
- generation of precursor metabolites and energy
- mitotic cell cycle G1/S transition DNA damage checkpoint
- regulation of tumor necrosis factor production
- apoptotic cell clearance
- DNA recombination
- negative regulation of type I interferon-mediated signaling pathway
- regulation of glycolysis
- immune complex formation
- mismatch repair
- activation of immune response
- DNA metabolic process
- regulation of cellular respiration
- type I interferon-mediated signaling pathway
- establishment of protein localization
- DNA catabolic process
- regulation of lipid biosynthetic process
- cellular response to gamma radiation
- cellular response to hydroxyurea
- regulation of inflammatory response
- protein stabilization
- cellular response to reactive oxygen species
- regulation of T cell activation
- regulation of fatty acid metabolic process
- regulation of type I interferon production
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- nuclear envelope
- oligosaccharyltransferase complex
- cytoplasm
- protein-DNA complex
- nuclear replication fork
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein homodimerization activity
- 3'-5'-exodeoxyribonuclease activity
- double-stranded DNA binding
- DNA binding, bending
- double-stranded DNA specific 3'-5' exodeoxyribonuclease activity
- single-stranded DNA binding
- MutSalpha complex binding
- magnesium ion binding
- 3'-5' exonuclease activity
- MutLalpha complex binding
- metal ion binding
- adenyl deoxyribonucleotide binding
- WW domain binding