DCLRE1C (DNA cross-link repair 1C)

2003-02-01  

Identity

HGNC
LOCATION
10p13
LOCUSID
ALIAS
A-SCID,DCLREC1C,RS-SCID,SCIDA,SNM1C
FUSION GENES

Other Information

Locus ID:

NCBI: 64421
MIM: 605988
HGNC: 17642
Ensembl: ENSG00000152457

Variants:

dbSNP: 64421
ClinVar: 64421
TCGA: ENSG00000152457
COSMIC: DCLRE1C

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000152457ENST00000357717Q96SD1
ENSG00000152457ENST00000378241X6R9W9
ENSG00000152457ENST00000378242B3KSJ7
ENSG00000152457ENST00000378246Q96SD1
ENSG00000152457ENST00000378249Q96SD1
ENSG00000152457ENST00000378254Q96SD1
ENSG00000152457ENST00000378255Q96SD1
ENSG00000152457ENST00000378258Q96SD1
ENSG00000152457ENST00000378278Q96SD1
ENSG00000152457ENST00000378289Q96SD1
ENSG00000152457ENST00000396817Q96SD1
ENSG00000152457ENST00000418843X6RCQ3
ENSG00000152457ENST00000456122X6RJV5

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9

Pathways

PathwaySourceExternal ID
Non-homologous end-joiningKEGGko03450
Primary immunodeficiencyKEGGko05340
Non-homologous end-joiningKEGGhsa03450
Primary immunodeficiencyKEGGhsa05340
DNA RepairREACTOMER-HSA-73894
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
Nonhomologous End-Joining (NHEJ)REACTOMER-HSA-5693571

References

Pubmed IDYearTitleCitations
119554322002Hairpin opening and overhang processing by an Artemis/DNA-dependent protein kinase complex in nonhomologous end joining and V(D)J recombination.334
155743272004A pathway of double-strand break rejoining dependent upon ATM, Artemis, and proteins locating to gamma-H2AX foci.269
197794582009ATM and Artemis promote homologous recombination of radiation-induced DNA double-strand breaks in G2.190
168742982006DNA-PK autophosphorylation facilitates Artemis endonuclease activity.114
190753922009A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.84
159369932005The Artemis:DNA-PKcs endonuclease cleaves DNA loops, flaps, and gaps.62
160932442005The DNA-dependent protein kinase catalytic subunit phosphorylation sites in human Artemis.61
120552482002A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans.48
255125572014PTIP associates with Artemis to dictate DNA repair pathway choice.47
150715072004Functional and biochemical dissection of the structure-specific nuclease ARTEMIS.45

Citation

Dessen P

DCLRE1C (DNA cross-link repair 1C)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40273/dclre1c