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Description for Protein DCLRE1C

DNA cross-link repair 1C
8 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
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). [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
3.1.-.-
KEGG - Orthology:
K10887
KEGG - Pathway(s):
hsa03450; hsa05340
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
Artemis; SCIDA; SNMIC; RSSCID; FLJ11360; RP11-398C13.5; A-SCID; OTTHUMP00000045150; Severe combined immunodeficiency, type a (Athabascan); Artemis protein isoform a; Artemis protein isoform d; Artemis protein isoform c; Artemis protein isoform b; SNM1-like protein; hSNM1C
Approved Symbol:
DCLRE1C
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 28
Human (de-) phosphorylation sites: 28; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

None Available

Associated Genetic Diseases:

  • Omenn syndrome(Pd);
  • Severe combined immunodeficiency with sensitivity to ionizing radiation(Pd);
  • Severe combined immunodeficiency, Athabascan-type(Pd);
  • Severe combined immunodeficiency, partial(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 05817 Entrez Gene ID: 64421 OMIM ID: 605988 Swissprot Accession: Q96SD1; B3KMX5;