Artemis protein; DNA cross-link repair 1C protein; SNM1-like proteinn; A-SCID protein; hSNM1C (DCLRE1C, ARTEMIS, ASCID, SCIDA, SNM1C)

Function: 1) V(D)J recombination/DNA repair 2) single-strand specific 5'-3' exonuclease activity 3) resolution of closed hairpins prior to formation of coding joint (see V(D)J recombination) 4) DNA double-strand break repair 5) interacts with ATM, BRCA1, PRKDC, TP53BP1 6) ATM- & phosphorylation-dependent interaction with MRN complex 7) phosphorylation on undefined residues by PRKDC may stimulate endonucleolytic activity on 5' & 3' hairpins & overhangs; PRKDC must remain present, even after phosphorylation, for efficient hairpin opening 8) phosphorylated by ATM in response to ionizing radiation 9) phosphorylated by ATR in response to ultraviolet radiation Structure: - belongs to the DNA repair metallo-beta-lactamase (DRMBL) family Compartment: nucleus Alternative splicing: named isoforms=4 Expression: - ubiquitously expressed - highest levels in kidney, lung, pancreas & placenta (at mRNA level) - expression is not increased in thymus or bone marrow, sites of V(D)J recombination Pathology: - mutations in the DCLRE1C gene seen in various forms of severe combined immunodeficiency (SCID): a) RS-SCID (sensitivity to ionizing radiation) b) Athabascan SCID c) Omenn syndrome

Properties

SIZE: entity length = 692 aa MW = 78 kD COMPARTMENT: cell nucleus MOTIF: Ser phosphorylation site {S645}

Database Correlations

OMIM correlations MORBIDMAP 605988 UniProt Q96SD1 Pfam PF07522 Entrez Gene 64421 Kegg hsa:64421

References

- Moshous D et al Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. Cell 105:177-86 2001 PMID: 11336668