DCLRE1C

From Wikipedia, the free encyclopedia

DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)

Identifiers

DCLRE1C; A-SCID; DCLREC1C; FLJ11360; FLJ36438; RS-SCID; SCIDA; SNM1C

External IDs

OMIM: 605988 MGI: 2441769 HomoloGene: 32547

Gene ontology
Molecular Function:	• magnesium ion binding • endonuclease activity • exonuclease activity • hydrolase activity
Cellular Component:	• nucleus
Biological Process:	• telomere maintenance • double-strand break repair • DNA recombination • immune response • chromosome organization and biogenesis (sensu Eukaryota) • response to ionizing radiation • B cell differentiation

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_001033855 (mRNA)
NP_001029027 (protein)

NM_146114 (mRNA)
NP_666226 (protein)

Location

Chr 10: 14.98 - 15.04 Mb

Chr 2: 3.34 - 3.38 Mb

Pubmed search

[1]

[2]

DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae), also known as DCLRE1C, is a human 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).^[1]

[edit] References

^ Entrez Gene: DCLRE1C DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae).

[edit] Further reading

Dudásová Z, Chovanec M (2004). "Artemis, a novel guardian of the genome.". Neoplasma 50 (5): 311–8. PMID 14628082.
Adams MD, Kerlavage AR, Fleischmann RD, et al. (1995). "Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence.". Nature 377 (6547 Suppl): 3–174. PMID 7566098.
Li L, Drayna D, Hu D, et al. (1998). "The gene for severe combined immunodeficiency disease in Athabascan-speaking Native Americans is located on chromosome 10p.". Am. J. Hum. Genet. 62 (1): 136–44. PMID 9443881.
Wood RD, Mitchell M, Sgouros J, Lindahl T (2001). "Human DNA repair genes.". Science 291 (5507): 1284–9. doi:10.1126/science.1056154. PMID 11181991.
Moshous D, Callebaut I, de Chasseval R, et al. (2001). "Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.". Cell 105 (2): 177–86. PMID 11336668.
Ma Y, Pannicke U, Schwarz K, Lieber MR (2002). "Hairpin opening and overhang processing by an Artemis/DNA-dependent protein kinase complex in nonhomologous end joining and V(D)J recombination.". Cell 108 (6): 781–94. PMID 11955432.
Li L, Moshous D, Zhou Y, et al. (2002). "A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans.". J. Immunol. 168 (12): 6323–9. PMID 12055248.
Callebaut I, Moshous D, Mornon JP, de Villartay JP (2002). "Metallo-beta-lactamase fold within nucleic acids processing enzymes: the beta-CASP family.". Nucleic Acids Res. 30 (16): 3592–601. PMID 12177301.
Noordzij JG, Verkaik NS, van der Burg M, et al. (2003). "Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow.". Blood 101 (4): 1446–52. doi:10.1182/blood-2002-01-0187. PMID 12406895.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Moshous D, Pannetier C, Chasseval Rd R, et al. (2003). "Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis.". J. Clin. Invest. 111 (3): 381–7. PMID 12569164.
Kobayashi N, Agematsu K, Sugita K, et al. (2003). "Novel Artemis gene mutations of radiosensitive severe combined immunodeficiency in Japanese families.". Hum. Genet. 112 (4): 348–52. doi:10.1007/s00439-002-0897-x. PMID 12592555.
Kobayashi N, Agematsu K, Nagumo H, et al. (2003). "Expansion of clonotype-restricted HLA-identical maternal CD4+ T cells in a patient with severe combined immunodeficiency and a homozygous mutation in the Artemis gene.". Clin. Immunol. 108 (2): 159–66. PMID 12921762.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Poinsignon C, Moshous D, Callebaut I, et al. (2004). "The metallo-beta-lactamase/beta-CASP domain of Artemis constitutes the catalytic core for V(D)J recombination.". J. Exp. Med. 199 (3): 315–21. doi:10.1084/jem.20031142. PMID 14744996.
Pannicke U, Ma Y, Hopfner KP, et al. (2005). "Functional and biochemical dissection of the structure-specific nuclease ARTEMIS.". EMBO J. 23 (9): 1987–97. doi:10.1038/sj.emboj.7600206. PMID 15071507.
Deloukas P, Earthrowl ME, Grafham DV, et al. (2004). "The DNA sequence and comparative analysis of human chromosome 10.". Nature 429 (6990): 375–81. doi:10.1038/nature02462. PMID 15164054.
Zhang X, Succi J, Feng Z, et al. (2004). "Artemis is a phosphorylation target of ATM and ATR and is involved in the G2/M DNA damage checkpoint response.". Mol. Cell. Biol. 24 (20): 9207–20. doi:10.1128/MCB.24.20.9207-9220.2004. PMID 15456891.
Poinsignon C, de Chasseval R, Soubeyrand S, et al. (2004). "Phosphorylation of Artemis following irradiation-induced DNA damage.". Eur. J. Immunol. 34 (11): 3146–55. doi:10.1002/eji.200425455. PMID 15468306.