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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ASTN1
astrotactin 1
Chromosome 1 · 1q25.2
NCBI Gene: 460Ensembl: ENSG00000152092.17HGNC: HGNC:773UniProt: A6H8Y4
21PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
neuron migrationneuron cell-cell adhesionendosomemembranemajor depressive disordermathematical abilitysmoking initiationblood coagulation disease
✦AI Summary

ASTN1 (astrotactin 1) is a neuronal-glial adhesion molecule essential for brain development. Its primary function is promoting neuronal migration along radial glial fibers during early brain development, particularly in the cerebellum, cerebral cortex, and hippocampus 1. ASTN1 facilitates the movement of postmitotic neuroblasts and granule cells, which is critical for normal cerebellar development and laminar brain organization 1. Mechanistically, ASTN1 operates through cell adhesion pathways and interacts with ASTN2 to implement radial-glia-guided neuronal migration 1. Beyond neurodevelopment, a circular RNA form (circ-Astn1) functions in non-neuronal tissues by regulating the miR-138-5p/SIRT1 axis, protecting endothelial cells from hyperglycemia-induced damage and promoting autophagy in spinal cord repair [PMID:40014196; 29]. In hepatocellular carcinoma, ASTN1 suppresses cancer cell migration and invasion via Wnt/β-catenin pathway inhibition 3. Bi-allelic ASTN1 variants cause diverse neurodevelopmental disorders ranging from mild to profound intellectual disability, often accompanied by autism spectrum disorder, ADHD, epilepsy, ataxia, and variable brain malformations including cerebellar dysgenesis, thin corpus callosum, polymicrogyria, and lissencephaly 1. ASTN1 variants also associate with alcohol dependence risk 4. Additionally, ASTN1 methylation status serves as a biomarker in gynecological cancer screening [PMID:35460075; 51].

Sources cited
1
ASTN1 promotes neuronal migration along radial glia in laminar brain structures; bi-allelic variants cause neurodevelopmental disorders with variable clinical presentations and brain morphologies
PMID: 41544630
2
Circular ASTN1 (circ-Astn1) protects endothelial cells from hyperglycemia damage via the miR-138-5p/SIRT1 axis
PMID: 40014196
3
Circ-Astn1 in exosomes promotes spinal cord repair after injury through the miR-138-5p/Atg7 pathway and autophagy activation
PMID: 40049089
4
ASTN1 suppresses hepatocellular carcinoma cell migration and invasion via Wnt/β-catenin pathway inhibition and is associated with immune infiltration patterns
PMID: 32945491
5
ASTN1 gene variants are significantly associated with alcohol dependence in family-based studies
PMID: 22488871
6
ASTN1 methylation is part of a diagnostic panel for cervical dysplasia detection in HPV-positive women
PMID: 35460075
7
ASTN1 methylation markers show promise in detecting vulvar neoplasia with high sensitivity
PMID: 40022051
Disease Associationsⓘ20
major depressive disorderOpen Targets
0.46Moderate
mathematical abilityOpen Targets
0.43Moderate
smoking initiationOpen Targets
0.38Weak
blood coagulation diseaseOpen Targets
0.36Weak
schizophreniaOpen Targets
0.32Weak
cutaneous melanomaOpen Targets
0.31Weak
bipolar disorderOpen Targets
0.30Weak
trauma complicationOpen Targets
0.27Weak
Abnormal brain morphologyOpen Targets
0.27Weak
cataractOpen Targets
0.26Weak
autism spectrum disorderOpen Targets
0.25Weak
obsessive-compulsive disorderOpen Targets
0.24Weak
hypotensionOpen Targets
0.23Weak
attention deficit hyperactivity disorderOpen Targets
0.23Weak
anorexia nervosaOpen Targets
0.22Weak
Tourette syndromeOpen Targets
0.22Weak
frozen shoulderOpen Targets
0.22Weak
Epidermal Inclusion CystOpen Targets
0.21Weak
Intellectual disabilityOpen Targets
0.19Weak
Abnormal corpus callosum morphologyOpen Targets
0.15Weak
Pathogenic Variants2
NM_004319.3(ASTN1):c.3334C>T (p.Arg1112Ter)Likely pathogenic
not specified
★☆☆☆2024→ Residue 1112
NM_004319.3(ASTN1):c.2224G>C (p.Gly742Arg)Likely pathogenic
Abnormal brain morphology
★☆☆☆→ Residue 742
View on ClinVar ↗
Related Genes
ASTN2Shared pathway68%CEP85LShared pathway50%KIAA0319LShared pathway50%NCAM2Shared pathway33%ACAP3Shared pathway25%POMGNT2Shared pathway25%
Tissue Expression6 tissues
Brain
100%
Ovary
21%
Heart
7%
Liver
1%
Lung
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
ASTN1ASTN2CEP85LKIAA0319LNCAM2ACAP3POMGNT2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O14525
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.39Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.30 [0.23–0.39]
RankingsWhere ASTN1 stands among ~20K protein-coding genes
  • #13,831of 20,598
    Most Researched21
  • #4,548of 5,498
    Most Pathogenic Variants2
  • #1,925of 17,882
    Most Constrained (LOEUF)0.39 · top quartile
Genes detectedASTN1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Mice lacking
PMID: 39150780
Proc Natl Acad Sci U S A · 2024
1.00
2
Triage performance and predictive value of the human gene methylation panel among women positive on self-collected HPV test: Results from a prospective cohort study.
PMID: 35460075
Int J Cancer · 2022
0.90
3
Overexpression of Circ-Astn1 Suppresses Hyperglycemia-Induced Endothelial Cell Damage via the miR-138-5p/SIRT1 Axis.
PMID: 40014196
Curr Med Sci · 2025
0.80
4
Administration of hypoxic pretreated adipose-derived mesenchymal stem cell exosomes promotes spinal cord repair after injury via delivery of circ-Astn1 and activation of autophagy.
PMID: 40049089
Int Immunopharmacol · 2025
0.70
5
Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.
PMID: 41544630
Am J Hum Genet · 2026
0.60