DCLRE1C - DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)
Entrez Gene Name: DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)
Entrez GeneID: Human(64421)
, Mouse(227525), Rat(259171)
, Mouse(227525), Rat(259171) Synonyms: 9930121L06Rik, A-SCID, AI661365, Art, ARTEMIS, DCLRE1C, DCLREC1C, FLJ11360, FLJ36438, MGC123409, RS-SCID, SCIDA, SNM1C, Snm1l
Gene Summary
- Human (64421): 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]
- Rat (259171): mouse homolog plays a role in non-homologous end joining DNA repair during VDJ recombination [RGD]
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
Regulates:
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Biological Process
B cell differentiation, chromosome organization, DNA recombination, DNA repair, double-strand break repair, immune response, response to DNA damage stimulus, response to ionizing radiation, telomere maintenance
Literature References
- 11336668Moshous D, Callebaut I, de Chasseval R, Corneo B, Cavazzana-Calvo M, Le Deist F, Tezcan I, Sanal O, Bertrand Y, Philippe N, Fischer A, de Villartay JP. Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.Cell 2001 Apr 20;105(2):177-86
- 12504013Rooney S, Sekiguchi J, Zhu C, Cheng HL, Manis J, Whitlow S, DeVido J, Foy D, Chaudhuri J, Lombard D, Alt FW. Leaky Scid phenotype associated with defective V(D)J coding end processing in Artemis-deficient mice.Mol Cell 2002 12 1;10(6):1379-90
- 12615897Rooney S, Alt FW, Lombard D, Whitlow S, Eckersdorff M, Fleming J, Fugmann S, Ferguson DO, Schatz DG, Sekiguchi J. Defective DNA repair and increased genomic instability in Artemis-deficient murine cells.J Exp Med 2003 03 3;197(5):553-65 View 38 categorized literature findings and their references in IPA
Molecular Functions
5'-3' exonuclease activity, endonuclease activity, exonuclease activity, hydrolase activity, magnesium ion binding, nuclease activity, single-stranded DNA specific endodeoxyribonuclease activity
Protein Domains
5'-3' exonuclease, endonuclease, enzyme, exonuclease, single-stranded DNA specific endodeoxyribonuclease
