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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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DCLRE1B
DNA cross-link repair 1B
Chromosome 1 Β· 1p13.2
NCBI Gene: 64858Ensembl: ENSG00000118655.9HGNC: HGNC:17641UniProt: Q9H816
51PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
DNA Repair
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
chromosome, telomeric regiontelomere maintenance via telomere lengtheningtelomere cappingprotection from non-homologous end joining at telomeredyskeratosis congenita, autosomal recessive 8coronary artery diseasebreast carcinomaSpastic paraplegia
✦AI Summary

DCLRE1B (DNA cross-link repair 1B) is a 5'-3' exonuclease with critical roles in telomere maintenance and DNA damage response 1. The protein functions primarily in protecting telomeres from non-homologous end-joining (NHEJ)-mediated fusion by generating 3' single-stranded overhangs at leading-end telomeres through its exonuclease activity [UniProt]. DCLRE1B operates downstream of DNA-PK signaling, which phosphorylates and positions the protein at telomeric DNA ends to regulate leading-end telomere resection, analogous to DNA-PK regulation of Artemis during V(D)J recombination 1. Beyond telomere functions, DCLRE1B participates in interstrand cross-link (ICL) repair and responds to replicative DNA damage 2. Unexpectedly, DCLRE1B exhibits beta-lactamase activity, hydrolyzing penicillin G and nitrocefin but not cephalosporins or carbapenems [UniProt]. Germline DCLRE1B mutations cause dyskeratosis congenita, an autosomal recessive bone marrow failure syndrome involving telomere dysfunction 3. p53 represses DCLRE1B expression through the DREAM repressor complex, linking telomere defects to p53-mediated cell cycle control 3. In cancer contexts, DCLRE1B emerges as a prognostic biomarker with complex roles: elevated DCLRE1B correlates with poor prognosis in melanoma and pancreatic cancer, promotes tumor cell proliferation and migration, and associates with immune infiltration patterns 452. Genetic variants in DCLRE1B show protective associations against multiple cancers 6. DCLRE1B expression is regulated by METTL3-mediated m6A modification and influences immunotherapy response 2, suggesting therapeutic targeting potential.

Sources cited
1
DNA-PK kinase activity and phosphorylation control Apollo/DCLRE1B access to leading-end telomeres for resection
PMID: 38407308
2
DCLRE1B identified as a senescence regulator and candidate effector gene for T2D susceptibility through splicing QTL analysis
PMID: 36109769
3
DCLRE1B identified as hub gene associated with diabetic retinopathy progression to proliferative diabetic retinopathy
PMID: 39719581
4
DCLRE1B identified as novel prognostic biomarker for hepatocellular carcinoma with role in tumor progression
PMID: 39864538
5
DCLRE1B shows distinct expression patterns, prognostic significance across cancers, particularly in melanoma, and associates with immune infiltration
PMID: 39738287
6
DCLRE1B mutations cause dyskeratosis congenita; p53-DREAM pathway represses DCLRE1B in bone marrow failure syndromes
PMID: 37834388
7
DCLRE1B genetic variants show inverse associations with prostate, lung, colorectal, breast, and ovarian cancer risk
PMID: 27459707
8
DCLRE1B promotes pancreatic cancer cell proliferation and migration; regulated by METTL3-mediated m6A modification; impacts immunotherapy response
PMID: 37936074
Disease Associationsβ“˜21
dyskeratosis congenita, autosomal recessive 8Open Targets
0.60Moderate
coronary artery diseaseOpen Targets
0.48Moderate
breast carcinomaOpen Targets
0.47Moderate
Severe intellectual disability and progressive spastic paraplegiaOpen Targets
0.45Moderate
Spastic paraplegiaOpen Targets
0.45Moderate
basal cell carcinomaOpen Targets
0.43Moderate
myocardial infarctionOpen Targets
0.43Moderate
Fanconi anemia complementation group COpen Targets
0.43Moderate
heart diseaseOpen Targets
0.42Moderate
skin neoplasmOpen Targets
0.40Moderate
congestive heart failureOpen Targets
0.39Weak
type 1 diabetes mellitusOpen Targets
0.36Weak
rheumatoid arthritisOpen Targets
0.36Weak
coronary atherosclerosisOpen Targets
0.35Weak
Epidermal Inclusion CystOpen Targets
0.35Weak
thyroid cancerOpen Targets
0.34Weak
benign neoplasm of skinOpen Targets
0.34Weak
luminal A breast carcinomaOpen Targets
0.28Weak
neoplasmOpen Targets
0.28Weak
neurodegenerative diseaseOpen Targets
0.26Weak
Dyskeratosis congenita, autosomal recessive, 8UniProt
Pathogenic Variants5
NM_022836.4(DCLRE1B):c.248A>G (p.Asp83Gly)Pathogenic
Fanconi anemia complementation group C
β˜…β˜†β˜†β˜†β†’ Residue 83
NM_022836.4(DCLRE1B):c.807C>T (p.His269=)Pathogenic
Fanconi anemia complementation group C
β˜…β˜†β˜†β˜†β†’ Residue 269
NM_022836.4(DCLRE1B):c.426A>T (p.Leu142Phe)Pathogenic
Dyskeratosis congenita, autosomal recessive 8
β˜†β˜†β˜†β˜†2024β†’ Residue 142
NM_022836.4(DCLRE1B):c.364C>T (p.Arg122Ter)Pathogenic
Dyskeratosis congenita, autosomal recessive 8
β˜†β˜†β˜†β˜†2024β†’ Residue 122
NM_022836.4(DCLRE1B):c.425T>C (p.Leu142Ser)Pathogenic
Dyskeratosis congenita, autosomal recessive 8
β˜†β˜†β˜†β˜†2024β†’ Residue 142
View on ClinVar β†—
Related Genes
TERF1Protein interaction100%POT1Protein interaction100%TINF2Protein interaction100%ERCC4Protein interaction100%SLX4Protein interaction100%MUS81Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
49%
Lung
34%
Heart
22%
Ovary
22%
Liver
14%
Gene Interaction Network
Click a node to explore
DCLRE1BTERF1POT1TINF2ERCC4SLX4MUS81
PROTEIN STRUCTURE
Preparing viewer…
PDB7A1F Β· 1.80 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.55Moderately Constrained
pLIβ“˜
0.94Intolerant
Observed/Expected LoF0.28 [0.15–0.55]
RankingsWhere DCLRE1B stands among ~20K protein-coding genes
  • #8,663of 20,598
    Most Researched51
  • #3,579of 5,498
    Most Pathogenic Variants5
  • #3,475of 17,882
    Most Constrained (LOEUF)0.55 Β· top quartile
Genes detectedDCLRE1B
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
DNA-PK controls Apollo's access to leading-end telomeres.
PMID: 38407308
Nucleic Acids Res Β· 2024
1.00
2
Genetic regulation of RNA splicing in human pancreatic islets.
PMID: 36109769
Genome Biol Β· 2022
0.90
3
Integration of multi-omics transcriptome-wide analysis for the identification of novel therapeutic drug targets in diabetic retinopathy.
PMID: 39719581
J Transl Med Β· 2024
0.80
4
Efficient discovery of robust prognostic biomarkers and signatures in solid tumors.
PMID: 39864538
Cancer Lett Β· 2025
0.70
5
DCLRE1B as a novel prognostic biomarker associated with immune infiltration: a pancancer analysis.
PMID: 39738287
Sci Rep Β· 2024
0.60