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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SHLD1
shieldin complex subunit 1
Chromosome 20 · 20p12.3
NCBI Gene: 149840Ensembl: ENSG00000171984.15HGNC: HGNC:26318UniProt: Q5TGA6
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA Repair
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
chromosomeprotein bindingpositive regulation of double-strand break repair via nonhomologous end joiningsite of double-strand breakfacial painHirsutismBlackfan-Diamond anemiaHereditary persistence of fetal hemoglobin - beta-thalassemia
✦AI Summary

SHLD1 is a critical component of the shieldin complex, which plays a pivotal role in DNA double-strand break (DSB) repair pathway choice. The shieldin complex, consisting of SHLD1, SHLD2 (FAM35A), SHLD3, and REV7 (MAD2L2), functions downstream of 53BP1 and RIF1 to promote non-homologous end joining (NHEJ) while suppressing homologous recombination 12. SHLD1 mediates this function by helping to restrict DNA end resection and protecting DNA termini from nucleolytic processing 1. The complex localizes to DSB sites in a 53BP1- and RIF1-dependent manner, with SHLD2 directly binding single-stranded DNA through its OB-fold domains 1. SHLD1 expression is tightly regulated by transcription factors THAP1, YY1, and HCF1, maintaining low basal levels essential for proper DSB repair balance 3. Functionally, SHLD1 promotes immunoglobulin class-switch recombination and facilitates telomere fusion processes 1. The complex acts through recruitment of CST-Polα-primase for fill-in synthesis at DNA breaks 45. Clinically, SHLD1 deficiency confers resistance to PARP inhibitors in BRCA1-deficient cancers by restoring homologous recombination capability 26, making it a potential biomarker for treatment stratification.

Sources cited
1
SHLD1 is part of the shieldin complex that localizes to DSB sites and promotes NHEJ while suppressing DNA end resection
PMID: 30022168
2
SHLD1 forms the Shieldin complex with FAM35A and confers PARP inhibitor resistance when inactivated in BRCA1-deficient cells
PMID: 30022119
3
Shieldin complex functions through CST-Polα-mediated fill-in synthesis downstream of 53BP1-RIF1
PMID: 30022158
4
SHLD1-dependent DSB processing requires CST-Polα-primase fill-in synthesis in BRCA1-deficient cells
PMID: 35027730
5
53BP1/Shieldin complex defects cause PARP inhibitor resistance and sensitivity to Polθ inhibitors
PMID: 34140467
6
SHLD1 expression is controlled by transcription factors THAP1, YY1, and HCF1, and its loss confers treatment resistance in BRCA1-deficient cells
PMID: 33857404
Disease Associationsⓘ20
facial painOpen Targets
0.28Weak
HirsutismOpen Targets
0.23Weak
Blackfan-Diamond anemiaOpen Targets
0.07Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.06Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.06Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.06Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.06Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.06Suggestive
dominant beta-thalassemiaOpen Targets
0.06Suggestive
inosine triphosphatase deficiencyOpen Targets
0.06Suggestive
Hemoglobin C - beta-thalassemiaOpen Targets
0.05Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.05Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
hemoglobin H diseaseOpen Targets
0.05Suggestive
IRIDA syndromeOpen Targets
0.05Suggestive
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.05Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.05Suggestive
gluthathione peroxidase deficiencyOpen Targets
0.05Suggestive
delta-beta-thalassemiaOpen Targets
0.05Suggestive
Rh deficiency syndromeOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TP53BP1Protein interaction96%SHLD2Protein interaction82%CTC1Protein interaction79%SHLD3Protein interaction78%MAD2L2Protein interaction63%RIF1Shared pathway39%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
82%
Brain
78%
Ovary
67%
Lung
53%
Liver
30%
Gene Interaction Network
Click a node to explore
SHLD1TP53BP1SHLD2CTC1SHLD3MAD2L2RIF1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5TGA6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.08LoF Tolerant
pLIⓘ
0.29Tolerant
Observed/Expected LoF0.42 [0.19–1.08]
RankingsWhere SHLD1 stands among ~20K protein-coding genes
  • #14,809of 20,598
    Most Researched18
  • #11,006of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedSHLD1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The shieldin complex mediates 53BP1-dependent DNA repair.
PMID: 30022168
Nature · 2018
1.00
2
Polθ inhibitors elicit BRCA-gene synthetic lethality and target PARP inhibitor resistance.
PMID: 34140467
Nat Commun · 2021
0.90
3
Shieldin complex promotes DNA end-joining and counters homologous recombination in BRCA1-null cells.
PMID: 30022119
Nat Cell Biol · 2018
0.80
4
53BP1-shieldin-dependent DSB processing in BRCA1-deficient cells requires CST-Polα-primase fill-in synthesis.
PMID: 35027730
Nat Cell Biol · 2022
0.70
5
MAD2L2 dimerization and TRIP13 control shieldin activity in DNA repair.
PMID: 34521823
Nat Commun · 2021
0.60