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

Function

• V(D)J recombination/DNA repair
• single-strand specific 5'-3' exonuclease activity
• resolution of closed hairpins prior to formation of coding joint (see V(D)J recombination)
• DNA double-strand break repair
• interacts with ATM, BRCA1, PRKDC, TP53BP1
• ATM- & phosphorylation-dependent interaction with MRN complex
• 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
• phosphorylated by ATM in response to ionizing radiation
• 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):
  • RS-SCID (sensitivity to ionizing radiation)
  • Athabascan SCID
  • Omenn syndrome

More general terms

• amidohydrolase

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=64421
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:64421
• OMIM: https://mirror.omim.org/entry/605988
• OMIM: https://mirror.omim.org/entry/603554
• OMIM: https://mirror.omim.org/entry/602450
• UniProt: http://www.uniprot.org/uniprot/Q96SD1.html