Symbol: Name: ID: |
DCLRE1C DNA cross-link repair 1C GFS:6598 |
Gene name: | DCLRE1C |
Chromosome: | 10p13 |
Previous Symbols: | SCIDA |
Previous Names: | severe combined immunodeficiency, type a (Athabascan), "DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)" |
Aliases: | ARTEMIS, FLJ11360, SNM1C, A-SCID |
Name Aliases: | PSO2 homolog (S. cerevisiae) |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2441769 | Rat Genome Database ID: | RGD:708574 |
HGNC ID: | HGNC:17642 | RefSeq IDs: | NM_001033855 |
Entrez Gene ID: | 64421 | Ensembl Gene ID: | |
VEGA IDs: | OTTHUMG00000017716 | UniProt ID: | Q96SD1 |
UCSC ID: | uc001inn.2 | OMIM ID: | 605988 |
Pubmed: | PMID11336668 PMID 9443881 | ||
CCDS IDs: | CCDSCCDS7105.1 CCDS CCDS31149.1 CCDS CCDS31150.1 |
Protein artemis is a protein that in humans is encoded by the DCLRE1C (DNA cross-link repair 1C) gene.
This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins when complexed with protein kinase, DNA-activated, catalytic polypeptide. Mutations in this gene cause Athabascan-type severe combined immunodeficiency (SCIDA). [provided by RefSeq, Jul 2008].
Function: Required for V(D)J recombination, the process by which exons encoding the antigen-binding domains of immunoglobulins and T-cell receptor proteins are assembled from individual V, (D), and J gene segments. V(D)J recombination is initiated by the lymphoid specific RAG endonuclease complex, which generates site specific DNA double strand breaks (DSBs). These DSBs present two types of DNA end structures: hairpin sealed coding ends and phosphorylated blunt signal ends. These ends are independently repaired by the non homologous end joining (NHEJ) pathway to form coding and signal joints respectively. This protein exhibits single-strand specific 5'-3' exonuclease activity in isolation and acquires endonucleolytic activity on 5' and 3' hairpins and overhangs when in a complex with PRKDC. The latter activity is required specifically for the resolution of closed hairpins prior to the formation of the coding joint. May also be required for the repair of complex DSBs induced by ionizing radiation, which require substantial end-processing prior to religation by NHEJ.
Products for DCLRE1C gene
Catalog | Product Name | Application | Company |
GFS:E06598 | DNA cross-link repair 1C; ELISA kit | ELISA | n/a |
GFS:A06598 | DNA cross-link repair 1C; Anti | ANTIBODIES | n/a |
GFS:P06598 | DNA cross-link repair 1C; Protien | Protien | n/a |