Dclre1c - DNA cross-link repair 1C Gene
Also Known as Art; Snm1l; 9930121L06Rik
Species: Mus musculus
Summary
This gene encodes a member of the SNM1 family of nucleases and is involved in V(D)J recombination and DNA repair. This protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits Endonuclease activity on 5' and 3' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Homozygous knockout mice for this gene exhibit severe combined immunodeficiency with sensitivity to ionizing radiation. Mutations in this gene in humans can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014]
Dclre1c Products (7)
| mRNA | Protein | Name |
|---|---|---|
| NM_001110214.1 | NP_001103684.1 | protein artemis isoform 3 |
| NM_001302674.1 | NP_001289603.1 | protein artemis isoform 4 |
| NM_001302684.1 | NP_001289613.1 | protein artemis isoform 5 |
| NM_001362903.1 | NP_001349832.1 | protein artemis isoform 6 |
| NM_001362904.1 | NP_001349833.1 | protein artemis isoform 7 |
| NM_146114.3 | NP_666226.2 | protein artemis isoform 1 |
| NM_175683.4 | NP_783614.1 | protein artemis isoform 2 |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within B cell differentiation |
IMP
IMP: Inferred from mutant phenotype
|
12504013 | MGI |
| acts upstream of or within DNA recombination |
IMP
IMP: Inferred from mutant phenotype
|
12504013 | MGI |
| acts upstream of or within V(D)J recombination |
IMP
IMP: Inferred from mutant phenotype
|
23836881 | MGI |
| acts upstream of or within chromosome organization |
IMP
IMP: Inferred from mutant phenotype
|
12504013 | MGI |
| acts upstream of or within double-strand break repair |
IMP
IMP: Inferred from mutant phenotype
|
12615897 | MGI |
| acts upstream of or within response to ionizing radiation |
IMP
IMP: Inferred from mutant phenotype
|
12504013 | MGI |
| acts upstream of or within telomere maintenance |
IMP
IMP: Inferred from mutant phenotype
|
12615897 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
protein artemis |
|
|