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9 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ASTE1
asteroid structure-specific endonuclease 1
Chromosome 3 · 3q22.1
NCBI Gene: 28990Ensembl: ENSG00000034533.12HGNC: HGNC:25021UniProt: D6RG30
12PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Homologous Recombination
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
single-stranded DNA endonuclease activityprotein binding3' overhang single-stranded DNA endonuclease activitydouble-strand break repair via homologous recombinationinsomniacervical carcinomagenetic disorderhead and neck malignant neoplasia
✦AI Summary

ASTE1 (asteroid structure-specific endonuclease 1) is a structure-specific DNA endonuclease that specifically cleaves single-stranded DNA and 3' overhang DNA structures 1. As a downstream effector of the shieldin complex, ASTE1 is recruited to DNA double-strand breaks (DSBs) in a SHLD2-dependent manner and functions to promote non-homologous end-joining (NHEJ) while antagonizing homologous recombination (HR) 1. Mechanistically, ASTE1 cleaves 3' exposed DNA ends, thereby inhibiting DNA end resection—a process necessary for HR—and promoting DNA end protection required for NHEJ 1. Loss of ASTE1 impairs NHEJ, causes hyper-resection, and leads to defective immunoglobulin class switch recombination 1. In BRCA1-deficient cells, ASTE1 deficiency restores homologous recombination capacity and confers resistance to poly(ADP-ribose) polymerase inhibitors 1. Clinically, ASTE1 is frequently mutated in microsatellite-instable (MSI) cancers, particularly colorectal cancer, where frameshift mutations in ASTE1 occur in ~80% of MSI tumors and generate immunogenic neopeptides recognized by CD8+ T cells 234. These ASTE1-derived frameshift peptide neoantigens correlate with tumor-infiltrating lymphocyte density and have been evaluated in phase I/IIa neoantigen vaccine trials for MMR-deficient cancers 4.

Sources cited
1
ASTE1 is a structure-specific endonuclease that cleaves single-stranded DNA and 3' overhang DNA, localizes to DSBs in a shieldin-dependent manner, promotes NHEJ by cleaving 3' ends to inhibit resection, and its loss impairs NHEJ and causes HR restoration in BRCA1-deficient cells
PMID: 34354233
2
ASTE1/HT001 frameshift mutations occur in 80% of MSI colorectal cancers and correlate with tumor-infiltrating lymphocyte density
PMID: 19503063
3
CD8+ T cell density correlates with frameshift mutations in ASTE1, and peptides derived from ASTE1 frameshift mutations stimulate peripheral cytotoxic T cells from colorectal cancer patients
PMID: 26060019
4
ASTE1 (HT001) frameshift peptide neoantigen-based vaccine for MMR-deficient cancers is well-tolerated and induces humoral and cellular immune responses in phase I/IIa trial
PMID: 32540851
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
insomniaOpen Targets
0.20Weak
cervical carcinomaOpen Targets
0.14Weak
genetic disorderOpen Targets
0.12Weak
head and neck malignant neoplasiaOpen Targets
0.08Suggestive
ovarian neoplasmOpen Targets
0.07Suggestive
Progressive supranuclear palsy - pure akinesia with gait freezingOpen Targets
0.03Suggestive
progressive supranuclear palsy-pure akinesia with gait freezing syndromeOpen Targets
0.03Suggestive
placenta praeviaOpen Targets
0.03Suggestive
complex regional pain syndromeOpen Targets
0.02Suggestive
fibromatosisOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
cardiomyopathyOpen Targets
0.01Suggestive
Plantar FibromatosisOpen Targets
0.01Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.00Suggestive
severe malarial anemiaOpen Targets
0.00Suggestive
Leigh syndromeOpen Targets
0.00Suggestive
Lynch syndromeOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TAF1BProtein interaction81%PALB2Shared pathway33%RAD54LShared pathway33%SEM1Shared pathway33%RECQLShared pathway33%EXD2Shared pathway29%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
66%
Ovary
65%
Brain
64%
Heart
55%
Lung
38%
Gene Interaction Network
Click a node to explore
ASTE1TAF1BPALB2RAD54LSEM1RECQLEXD2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q2TB18
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.29LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.02 [0.81–1.29]
RankingsWhere ASTE1 stands among ~20K protein-coding genes
  • #16,393of 20,598
    Most Researched12
  • #13,593of 17,882
    Most Constrained (LOEUF)1.29
Genes detectedASTE1
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
Overlapping ATP2C1 and ASTE1 genes in human genome: implications for SPCA1 expression?
PMID: 23344038
Int J Mol Sci · 2013
1.00
2
Identification and selective degradation of neopeptide-containing truncated mutant proteins in the tumors with high microsatellite instability.
PMID: 23674496
Clin Cancer Res · 2013
0.89
3
Mismatch repair-deficient crypt foci in Lynch syndrome--molecular alterations and association with clinical parameters.
PMID: 25816162
PLoS One · 2015
0.78
4
ASTE1 frameshift mutation triggers the immune response in Epstein-Barr virus-associated gastric cancer.
PMID: 34983924
Signal Transduct Target Ther · 2022
0.67
5
Tumor-infiltrating lymphocytes in colorectal cancers with microsatellite instability are correlated with the number and spectrum of frameshift mutations.
PMID: 19503063
Mod Pathol · 2009
0.56