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- Table of Contents
Facts about Protein artemis.
These endings are independently repaired by the non homologous end joining (NHEJ) pathway to form coding and signal joints . This protein exhibits single-strand specific 5'-3' exonuclease activity in isolation and accelerates endonucleolytic activity on 5' and 3' hairpins and overhangs when in a complicated with PRKDC.
Human | |
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Gene Name: | DCLRE1C |
Uniprot: | Q96SD1 |
Entrez: | 64421 |
Belongs to: |
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DNA repair metallo-beta-lactamase (DRMBL) family |
ASCID; DCLREC1C; DNA cross-link repair 1C protein; DNA cross-link repair 1C; EC 3.1; FLJ36438; hSNM1C; protein artemis; Protein A-SCID; PSO2 homolog; RS-SCID; severe combined immunodeficiency, type a (Athabascan); SNM1 homolog C; SNM1CS. cerevisiae); SNM1-like protein
Mass (kDA):
78.436 kDA
Human | |
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Location: | 10p13 |
Sequence: | 10; NC_000010.11 (14897359..14954432, complement) |
Ubiquitously expressed, with highest levels in the kidney, lung, pancreas and placenta (at the mRNA level). Expression is not increased in thymus or bone marrow, sites of V(D)J recombination.
Nucleus.
PMID: 11336668 by 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.
PMID: 12055248 by Li L., et al. A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking native Americans.