DCLRE1C

Chr 10p13

DNA cross-link repair 1C

Aliases:: ARTEMIS, FLJ11360, SNM1C, A-SCID
MANE:: ENST00000378278.7

OMIM: 605988 ↗NCBI: 64421 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

DCLRE1C · Q96SD1

v62025-08-01

Predicted Aligned Error matrix for DCLRE1C — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

69.4/ 100

Low

692 residues

Confidence breakdown

Very high(≥ 90)46%
Confident(70–90)9%
Low(50–70)5%
Very low(< 50)40%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Gastrointestinal epithelial barrier disorders
BIALLELIC, autosomal or pseudoautosomal
Infantile enterocolitis & monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

severe combined immunodeficiency due to DCLRE1C deficiency
0.82
Omenn syndrome
0.69
severe combined immunodeficiency
0.69
histiocytic medullary reticulosis
0.57
T-B+ severe combined immunodeficiency
0.53
T-B- severe combined immunodeficiency
0.53
combined immunodeficiency
0.46
nervous system benign neoplasm
0.27
Ehlers-Danlos syndrome, musculocontractural type
0.27
Ehlers-Danlos syndrome, kyphoscoliotic type 1
0.27

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Protein artemis

Nuclease involved in DNA non-homologous end joining (NHEJ); required for double-strand break repair and V(D)J recombination (PubMed:11336668, PubMed:11955432, PubMed:12055248, PubMed:14744996, PubMed:15071507, PubMed:15574326, PubMed:15936993). 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 (PubMed:11336668, PubMed:11955432, PubMed:14744996). V(D)J recombination is initiated by the lymphoid specific RAG endonuclease complex, which generates site specific DNA double strand breaks (DSBs) (PubMed:11336668, PubMed:11955432, PubMed:14744996). These DSBs present two types of DNA end structures: hairpin sealed coding ends and phosphorylated blunt signal ends (PubMed:11336668, PubMed:11955432, PubMed:14744996). These ends are independently repaired by the non homologous end joining (NHEJ) pathway to form coding and signal joints respectively (PubMed:11336668, PubMed:11955432, PubMed:14744996). 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 (PubMed:11955432, PubMed:15071507, PubMed:15574326, PubMed:15936993). The latter activity is required specifically for the resolution of closed hairpins prior to the formation of the coding joint (PubMed:11955432). Also required for the repair of complex DSBs induced by ionizing radiation, which require substantial end-processing prior to religation by NHEJ (PubMed:15456891, PubMed:15468306, PubMed:15574327, PubMed:15811628)