| URN | urn:agi-llid:6321 |
|---|---|
| Total Entities | 0 |
| Connectivity | 130 |
| Name | Dclre1c |
| Description | DNA cross-link repair 1C |
| Notes | 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, Jul 2008] |
| Ariadne Ontology | DNA repair |
|---|
| GO Molecular Function | hydrolase activity |
|---|---|
| nuclease activity | |
| exonuclease activity | |
| endonuclease activity | |
| single-stranded DNA specific endodeoxyribonuclease activity | |
| 5'-3' exonuclease activity |
| GO Cellular Component | nucleus |
|---|
| GO Biological Process | B cell differentiation |
|---|---|
| nucleic acid phosphodiester bond hydrolysis | |
| DNA repair | |
| DNA recombination | |
| telomere maintenance | |
| double-strand break repair | |
| response to DNA damage stimulus | |
| chromosome organization | |
| response to ionizing radiation |
| Pathway | Double Strand DNA Non-Homologous Repair |
|---|---|
| non-homologous end joining pathway of double-strand break repair |
| Group | DNA repair |
|---|---|
| B cell differentiation | |
| nucleic acid phosphodiester bond hydrolysis | |
| DNA repair | |
| DNA recombination | |
| telomere maintenance | |
| double-strand break repair | |
| response to DNA damage stimulus | |
| chromosome organization | |
| response to ionizing radiation | |
| hydrolase activity | |
| nuclease activity | |
| exonuclease activity | |
| endonuclease activity | |
| single-stranded DNA specific endodeoxyribonuclease activity | |
| 5'-3' exonuclease activity | |
| nucleus |
| MedScan ID | 6321 |
|---|
| Hugo ID | 17642 |
|---|
| Human chromosome position | 10p13 |
|---|
| LocusLink ID | 6321 |
|---|---|
| 64421 | |
| 227525 | |
| 259171 |
| Alias | SCIDA |
|---|---|
| SNM1C | |
| A-SCID | |
| hSNM1C | |
| RS-SCID | |
| DCLREC1C | |
| RP11-398C13.5 | |
| protein artemis | |
| PSO2 homolog | |
| SNM1 homolog C | |
| SNM1-like protein | |
| DNA cross-link repair 1C protein | |
| severe combined immunodeficiency, type a (Athabascan) | |
| DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae) | |
| Art | |
| Snm1l | |
| AI661365 | |
| 9930121L06Rik | |
| RP23-167G19.6 | |
| mArt | |
| artemis | |
| DNA cross-link repair 1A, PSO2 homolog | |
| OTTMUSP00000011552 | |
| OTTMUSP00000011551 | |
| OTTMUSP00000011550 | |
| OTTHUMP00000019174 | |
| OTTHUMP00000019172 | |
| OTTHUMP00000045150 | |
| RS-SCIDs | |
| OTTHUMP00000019167 | |
| severe combined immunodeficiency, type a | |
| SNM1-like | |
| 9930121L06 | |
| ARTEMISs | |
| OTTHUMP00000019170 | |
| DCLRE1C | |
| OTTHUMP00000019171 | |
| DNA cross-link repair 1C | |
| FLJ11360 | |
| FLJ36438 | |
| MGC123409 | |
| OTTHUMP00000019166 | |
| OTTHUMP00000019168 | |
| Athabascan |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 605988 |
|---|---|
| 603554 | |
| 602450 |
| Unigene ID | Hs.656065 |
|---|---|
| Mm.23483 | |
| Mm.442710 | |
| Rn.204346 |
| KEGG ID | hsa:64421 |
|---|---|
| mmu:227525 | |
| rno:259171 |
| Swiss-Prot Accession | Q96SD1 |
|---|---|
| B3KMX5 | |
| Q32MX8 | |
| Q8K4J0 | |
| Q5XIX3 | |
| A2AJG6 | |
| A2AJG7 | |
| A2AJG8 | |
| Q8BG72 | |
| Q8BTT1 | |
| D3DRT6 | |
| Q1HCL2 | |
| Q5JSR4 | |
| Q5JSR5 | |
| Q5JSR7 | |
| Q5JSR8 | |
| Q5JSR9 | |
| Q5JSS0 | |
| Q5JSS7 | |
| Q6PK14 | |
| Q8N101 | |
| Q8N132 | |
| Q8TBW9 | |
| Q9BVW9 | |
| Q9HAM4 | |
| Q8K4H7 |
| EC Number | 3.1.-.- |
|---|
| GO ID | 0008409 |
|---|---|
| 0000014 | |
| 0030183 | |
| 0006310 | |
| 0006302 | |
| 0010212 | |
| 0000723 | |
| 0005634 | |
| 0004519 | |
| 0004527 | |
| 0016787 | |
| 0004518 | |
| 0006281 | |
| 0051276 | |
| 0006974 | |
| 0090305 |
| Swiss-Prot ID | DCR1C_MOUSE |
|---|---|
| DCR1C_HUMAN | |
| DCR1C_RAT |
| Cell Localization | Nucleus |
|---|
| IPI ID | IPI00170222 |
|---|---|
| IPI00221500 | |
| IPI00607937 | |
| IPI00290459 | |
| IPI00290918 | |
| IPI00396624 | |
| IPI00607742 | |
| IPI00209347 |
| Mouse chromosome position | 2 |
|---|
| Rat chromosome position | 17q12.3 |
|---|
| Homologene ID | 32547 |
|---|
| MGI ID | 2441769 |
|---|
| RGD ID | 708574 |
|---|
| Primary Cell Localization | Nucleus |
|---|