DCLRE1C
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "DCLRE1C".

content
DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)
Identifiers
Symbols DCLRE1C; A-SCID; DCLREC1C; FLJ11360; FLJ36438; RS-SCID; SCIDA; SNM1C
External IDs OMIM: 605988 MGI: 2441769 HomoloGene: 32547
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 64421 227525
Ensembl ENSG00000152457 ENSMUSG00000026648
Uniprot Q96SD1 Q8K4J0
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

References

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

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. 
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