| Type | Description |
|---|---|
| Definition | DNA cross-link repair 1C |
| Date | Results | Publications |
|---|---|---|
| 2021-01-23 13:00:00 | Structural analysis of the catalytic domain of Artemis endonuclease/SNM1C reveals distinct structural features. | 32576658 |
| 2020-10-24 14:05:00 | Unusual phenotype in patients with a hypomorphic mutation in the DCLRE1C gene: IgG hypergammaglobulinemia with IgA and IgE deficiency. | 32092471 |
| 2020-06-06 13:15:00 | study presents one of three affected siblings who was diagnosed with DCLRE1C-deficient combined immunodeficiencies | 30947362 |
| 2019-06-29 10:27:00 | The results suggest that TDP1 and Artemis perform different functions in the repair of terminally blocked double-stranded breaks (DSBs) by the classical nonhomologous end joining pathway, and that whereas an Artemis deficiency prevents end joining of some DSBs, a TDP1 deficiency tends to promote DSB misjoining. | 30113698 |
| 2019-01-19 12:17:00 | Study provides evidence that Replication forks can break quickly in S-phase upon DNA replication stress induction by an endonucleolytic mechanism independent of MUS81. Two nucleases ARTEMIS and XPF-ERCC1 are responsible for this Breakage (RRFB) which takes place during S and G2 phases of the cell cycle. | 30059501 |
| Type | IDs |
|---|---|
| Synonymous | A-SCID, DCLREC1C, RS-SCID, SCIDA, SNM1C |
| Gene |
UniProtKB-ID:
DCR1C_HUMAN,
B3KMX5_HUMAN
UniprotKB:
Q96SD1,
B3KMX5
UniParc:
UPI000013EEDC,
UPI00004A2DC4,
UPI000013DCD1,
UPI000013E537,
UPI000015F631
EMBL:
DQ504427,
BC000863,
AF395747,
AL360083,
AF395751,
AF395748,
AC069544,
CH471072,
AF395750,
BC009185,
AF395752,
AK022922,
AJ296101,
AF395749,
AK021422,
BC022254
Ensembl:
ENSG00000152457
KO:
hsa:64421
|
| Nucleutide sequences |
EMBL-CDS:
AAM53257.1,
CAC37570.1,
AAM53260.1,
AAM53258.1,
AAM53256.1,
AAM53259.1,
AAH00863.1,
AAH09185.1,
ABF47101.1,
EAW86250.1,
BAB13820.1,
EAW86251.1,
AAM53255.1,
EAW86248.1,
AAH22254.1,
BAG51137.1
Ensembl_TRS:
ENST00000396817,
ENST00000378249,
ENST00000378255,
ENST00000378278,
ENST00000357717,
ENST00000378289,
ENST00000378258,
ENST00000378254,
ENST00000378246
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000367492,
ENSP00000350349,
ENSP00000380030,
ENSP00000367506,
ENSP00000367527,
ENSP00000367538,
ENSP00000367502,
ENSP00000367496,
ENSP00000367503
RefSeq:
XP_011517922.1,
XP_011517921.1,
NP_001337895.1,
XP_011517918.1,
XP_011517923.1,
NP_071932.2,
NP_001276008.1,
NP_001029027.1,
XP_016872047.1,
XP_016872046.1,
NP_001029030.1,
NP_001276006.1,
XP_024303902.1,
XP_006717554.1,
XP_011517919.1,
XP_024303903.1,
NP_001276007.1,
NP_001337894.1,
NP_001337896.1,
NP_001276005.1,
NP_001029029.1
|
| Others |
UniRef100:
UniRef100_B3KMX5,
UniRef100_Q96SD1
UniRef90:
UniRef90_Q96SD1-3,
UniRef90_Q96SD1
UniRef50:
UniRef50_Q96SD1
UniGene:
Hs.656065
CCDS:
CCDS7105.1,
CCDS31149.1,
CCDS31150.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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