| Gene Symbol |
DCLRE1C
|
| Entrez Gene |
64421
|
| Alt Symbol |
A-SCID, DCLREC1C, RS-SCID, SCIDA, SNM1C
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
DNA cross-link repair 1C
|
| Other Description |
DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)|SNM1 homolog C|SNM1-like protein|protein artemis|severe combined immunodeficiency, type a (Athabascan)
|
| Swissprots |
Q9HAM4 Q9BVW9 D3DRT6 Q5JSR5 Q8N132 Q6PK14 Q8TBW9 Q8N101 Q96SD1 Q5JSR4 Q5JSR7 Q5JSR9 Q1HCL2 Q5JSR8 Q5JSS0 Q5JSS7
|
| Accessions |
ABF47101 EAW86248 EAW86249 EAW86250 EAW86251 EAW86252 Q96SD1 AF088055 AF395747 AAM53255 AF395748 AAM53256 AF395749 AAM53257 AF395750 AAM53258 AF395751 AAM53259 AF395752 AAM53260 AJ296101 CAC37570 AK021422 BAB13820 AK022922 BAG51137 AK093757 BAG52759 AK290598 BAF83287 AK307912 AW954867 BC000863 AAH00863 BC009185 AAH09185 BC022254 AAH22254 BC067233 BC108276 BE799340 BQ932042 BX648858 XM_006717491 XP_006717554 XM_011519616 XP_011517918 XM_011519617 XP_011517919 XM_011519618 XP_011517920 XM_011519619 XP_011517921 XM_011519620 XP_011517922 XM_011519621 XP_011517923 XR_242702 XR_930514 XR_930515 NM_001033855 NP_001029027 NM_001033857 NP_001029029 NM_001033858 NP_001029030 NM_001289076 NP_001276005 NM_001289077 NP_001276006 NM_001289078 NP_001276007 NM_001289079 NP_001276008 NM_022487 NP_071932 NR_110297
|
| Function |
Required for V(D)J recombination, the process by which exons encoding the antigen-binding domains of immunoglobulins and T-cell receptor proteins are assembled from individual V, (D), and J gene segments. V(D)J recombination is initiated by the lymphoid specific RAG endonuclease complex, which generates site specific DNA double strand breaks (DSBs). These DSBs present two types of DNA end structures: hairpin sealed coding ends and phosphorylated blunt signal ends. These ends are independently repaired by the non homologous end joining (NHEJ) pathway to form coding and signal joints respectively. This protein exhibits single-strand specific 5'-3' exonuclease activity in isolation and acquires endonucleolytic activity on 5' and 3' hairpins and overhangs when in a complex with PRKDC. The latter activity is required specifically for the resolution of closed hairpins prior to the formation of the coding joint. May also be required for the repair of complex DSBs induced by ionizing radiation
|
| Subcellular Location |
Nucleus {ECO:0000269|PubMed:12055248, ECO:0000269|PubMed:15071507}.
|
| Tissue Specificity |
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. {ECO:0000269|PubMed:11336668}.
|
| Top Pathways |
Primary immunodeficiency, Non-homologous end-joining
|