AlphaFold predicted structure
DCLRE1B · Q9H816

Mean pLDDT
74.8/ 100
Confident
532 residues
Confidence breakdown
- Very high(≥ 90)58%
- Confident(70–90)6%
- Low(50–70)2%
- Very low(< 50)34%
AlphaFold (Jumper et al., 2021) · CC BY 4.0
DNA cross-link repair 1B
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
COVID-19 research
BIALLELIC, autosomal or pseudoautosomalPrimary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomaldyskeratosis congenita, autosomal recessive 8
thyroid gland carcinoma
coronary artery disorder
breast carcinoma
Severe intellectual disability and progressive spastic paraplegia
Spastic paraplegia
basal cell carcinoma
Fanconi anemia complementation group C
myocardial infarction
heart disorder
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
5' exonuclease Apollo
5'-3' exonuclease that plays a central role in telomere maintenance and protection during S-phase. Participates in the protection of telomeres against non-homologous end-joining (NHEJ)-mediated repair, thereby ensuring that telomeres do not fuse. Plays a key role in telomeric loop (T loop) formation by being recruited by TERF2 at the leading end telomeres and by processing leading-end telomeres immediately after their replication via its exonuclease activity: generates 3' single-stranded overhang at the leading end telomeres avoiding blunt leading-end telomeres that are vulnerable to end-joining reactions and expose the telomere end in a manner that activates the DNA repair pathways. Together with TERF2, required to protect telomeres from replicative damage during replication by controlling the amount of DNA topoisomerase (TOP1, TOP2A and TOP2B) needed for telomere replication during fork passage and prevent aberrant telomere topology. Also involved in response to DNA damage: plays a role in response to DNA interstrand cross-links (ICLs) by facilitating double-strand break formation. In case of spindle stress, involved in prophase checkpoint. Possesses beta-lactamase activity, catalyzing the hydrolysis of penicillin G and nitrocefin (PubMed:31434986). Exhibits no activity towards other beta-lactam antibiotic classes including cephalosporins (cefotaxime) and carbapenems (imipenem) (PubMed:31434986)
Curated MONDO disease pages that list DCLRE1B among their top associated genes.
DCLRE1B · Q9H816

Mean pLDDT
74.8/ 100
Confident
532 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0