DCLRE1C (DNA cross-link repair 1C)

2003-02-01  

Identity

HGNC
DCLRE1C
LOCATION
10p13
LOCUSID
64421
ALIAS
A-SCID,DCLREC1C,RS-SCID,SCIDA,SNM1C
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
358018712022Structural analysis of the basal state of the Artemis:DNA-PKcs complex.10
362705812022Dynamics of the Artemis and DNA-PKcs Complex in the Repair of Double-Strand Breaks.9
365466262022Lentiviral Gene Therapy for Artemis-Deficient SCID.16
358018712022Structural analysis of the basal state of the Artemis:DNA-PKcs complex.10
362705812022Dynamics of the Artemis and DNA-PKcs Complex in the Repair of Double-Strand Breaks.9
365466262022Lentiviral Gene Therapy for Artemis-Deficient SCID.16
342101012021Staring at the Naked Goddess: Unraveling the Structure and Reactivity of Artemis Endonuclease Interacting with a DNA Double Strand.2
342101012021Staring at the Naked Goddess: Unraveling the Structure and Reactivity of Artemis Endonuclease Interacting with a DNA Double Strand.2
320924712020Unusual phenotype in patients with a hypomorphic mutation in the DCLRE1C gene: IgG hypergammaglobulinemia with IgA and IgE deficiency.4
325766582020Structural analysis of the catalytic domain of Artemis endonuclease/SNM1C reveals distinct structural features.16
320924712020Unusual phenotype in patients with a hypomorphic mutation in the DCLRE1C gene: IgG hypergammaglobulinemia with IgA and IgE deficiency.4
325766582020Structural analysis of the catalytic domain of Artemis endonuclease/SNM1C reveals distinct structural features.16
309473622019Intrauterine detection of DCLRE1C (Artemis) mutation by restriction fragment length polymorphism.2
309473622019Intrauterine detection of DCLRE1C (Artemis) mutation by restriction fragment length polymorphism.2
300595012018DNA replication stress triggers rapid DNA replication fork breakage by Artemis and XPF.23

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-(dna-cross-link-repair-1c)