Aliases for DCLRE1C Gene
External Ids for DCLRE1C Gene
Previous HGNC Symbols for DCLRE1C Gene
Previous GeneCards Identifiers for DCLRE1C Gene
This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded 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. Mutations in this gene can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
GeneCards Summary for DCLRE1C Gene
DCLRE1C (DNA Cross-Link Repair 1C) is a Protein Coding gene. Diseases associated with DCLRE1C include Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation and Omenn Syndrome. Among its related pathways are Primary immunodeficiency and DNA Double Strand Break Response. Gene Ontology (GO) annotations related to this gene include 5'-3' exonuclease activity and single-stranded DNA endodeoxyribonuclease activity. An important paralog of this gene is DCLRE1B.
UniProtKB/Swiss-Prot Summary for DCLRE1C Gene
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.