DCLRE1C Gene (Artemis)
DNA Cross-Link Repair 1C, Key in V(D)J Recombination and Severe Combined Immunodeficiency (SCID)
Gene Information Card
| Symbol | DCLRE1C |
|---|---|
| Full Name | DNA cross-link repair 1C |
| Gene Type | Protein coding |
| Chromosomal Location | 10p13 |
| NCBI Gene ID | 64421 ncbi.nlm.nih.gov/gene/64421 |
| Ensembl ID | ENSG00000152457 |
| UniProt ID | Q96SD1 |
| OMIM ID | 605988 |
| HGNC ID | 17642 |
| Aliases | ARTEMIS, SNM1C, SNM1-like protein, hSNM1C |
Description
DCLRE1C encodes Artemis, a nuclease essential for DNA double-strand break repair via non-homologous end joining (NHEJ) and for V(D)J recombination during lymphocyte development. Mutations in DCLRE1C cause Artemis-deficient severe combined immunodeficiency (SCID), characterized by T-B-NK+ SCID, radiosensitivity, and often Omenn syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency | Loss-of-function mutations impair V(D)J recombination, blocking T and B cell development | OMIM #602450 |
| Omenn syndrome | Hypomorphic mutations allow partial V(D)J recombination leading to oligoclonal T cells and autoimmunity | OMIM #603554 |
| Radiosensitive SCID | Defective NHEJ repair of radiation-induced DNA breaks | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 8.7 | Medium |
| Spleen | 7.2 | Medium |
| Bone marrow | 6.5 | Medium |
| Thymus | 5.9 | Low |
| Testis | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 9.1 | Myelogenous leukemia line |
| HEK 293 | 6.8 | Embryonic kidney |
| HeLa | 5.4 | Cervical carcinoma |
| Jurkat | 8.3 | T-cell leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.597C>T (p.Arg199*) | Nonsense | Rare | Loss of function, SCID |
| c.1648C>T (p.Arg550*) | Nonsense | Rare | Loss of function, SCID |
| c.475C>T (p.Arg159Cys) | Missense | Rare | Hypomorphic, Omenn syndrome |
| c.1649G>A (p.Arg550Gln) | Missense | Rare | Hypomorphic, Omenn syndrome |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations truncating the protein, leading to complete loss of nuclease activity and SCID.
Gain of Function (GOF)
Not reported for DCLRE1C.
Dominant Negative (DN)
Not reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • DNA nuclease activity | • DNA double-strand break repair via nonhomologous end joining |
| • V(D)J recombination | • Hydrolase activity |
| • acting on ester bonds | • Nucleus |
Pathways
• Non-homologous end joining (NHEJ)
• V(D)J recombination
• DNA double-strand break repair
Protein Summary
Artemis is a 692-amino acid protein with a metallo-beta-lactamase domain and a beta-CASP domain, conferring 5' to 3' exonuclease and endonuclease activity. It forms a complex with DNA-PKcs to open hairpin intermediates during V(D)J recombination and to process damaged DNA ends in NHEJ.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCLRE1C Knockout HEK293 Cell Line | EDJ-KQ13107 | Human | 64421 | Details Get a Quote |
| DCLRE1C Knockout A-549 Cell Line | EDJ-KQ42409 | Human | 64421 | Details Get a Quote |
| DCLRE1C Knockout HCT 116 Cell Line | EDJ-KQ42410 | Human | 64421 | Details Get a Quote |
| DCLRE1C Knockout HeLa Cell Line | EDJ-KQ42411 | Human | 64421 | Details Get a Quote |
