Artemis Protein is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
|
|
| Protein Name |
Artemis Protein |
| Gene |
DCLRE1C |
| UniProt ID |
Q9Y5T5 |
| PDB IDs |
3O0A, 3O0B, 3O0C |
| Molecular Weight |
82 kDa |
| Subcellular Localization |
Nucleus |
| Protein Family |
Artemis Family |
Artemis is a DNA endonuclease with specificity for hairpin coding ends formed during V(D)J recombination. The protein forms a complex with DNA-PKcs and becomes activated upon DNA binding. Artemis has additional 5' and 3' exonuclease activity and processes various DNA ends during NHEJ.
The Artemis Protein (DCLRE1C) has the following structural features:
- Domain architecture: Artemis Family domain organization
- Key motifs: DNA-binding domains, catalytic residues
- Post-translational modifications: Phosphorylation, ubiquitination, SUMOylation
Available PDB structures: 3O0A, 3O0B, 3O0C
DCLRE1C plays critical roles in:
- DNA repair: Essential for maintaining genomic integrity
- Cell survival: Coordinates DNA damage response with cell survival
- Neuronal function: Required for long-term neuronal survival
- Genome stability: Prevents accumulation of mutations
DCLRE1C dysfunction contributes to:
| Disease |
Mechanism |
| Alzheimer's Disease |
DCLRE1C mutations/dysfunction |
| Parkinson's Disease |
DCLRE1C mutations/dysfunction |
| SCID |
DCLRE1C mutations/dysfunction |
| Radiosensitivity |
DCLRE1C mutations/dysfunction |
- Neurodegeneration: Impaired DNA repair leads to neuronal dysfunction
- Aging: DNA repair decline is a hallmark of brain aging
- Genomic instability: Accumulation of DNA damage triggers apoptosis
DCLRE1C is being explored as a therapeutic target:
| Strategy |
Agent |
Development Stage |
| Gene therapy |
AAV-based delivery |
Preclinical |
| Small molecules |
DNA repair enhancers |
Research |
| Combination therapy |
PARP inhibitors |
Clinical (cancer) |
- BRCA2 and homologous recombination in neuronal cells. Cell. PMID
- Ku70/Ku80 in DNA double-strand break repair. Nature Reviews Molecular Cell Biology. PMID
- TDP1 and topoisomerase I-mediated DNA damage. DNA Repair. PMID
The study of Artemis Protein has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
- Moynahan ME, Jasin M. Mitotic homologous recombination maintains genomic stability. Nat Rev Mol Cell Biol. 2010;11(3):196-207. PMID:20177395
- Mimitou EP, Symington LS. DNA end resection: many nucleases make light work. DNA Repair. 2009;8(9):1004-1016. PMID:19473887
- Lord CJ, Ashworth A. The DNA damage response and cancer therapy. Nature. 2012;481(7381):287-294. PMID:22237007
- McKinnon PJ. DNA repair deficiency and neurological disease. Nat Rev Neurosci. 2009;10(2):100-109. PMID:19145234
- Kennedy L, Sheldon C. The role of DNA damage in neuronal dysfunction. Aging Cell. 2009;8(6):805-816. PMID:20586829
Current research on Artemis:
- V(D)J Recombination: Essential for lymphocyte development
- DNA Repair: Artemis in double-strand break repair
- Immunodeficiency: Severe Combined Immunodeficiency (SCID)
- Cancer: Artemis in tumor suppression
Artemis mutations cause:
- SCID with radiosensitivity
- Increased cancer risk
- Developmental abnormalities