ASTN1

Chr 1q25.2

astrotactin 1

MANE:: ENST00000361833.7

OMIM: 600904 ↗NCBI: 460 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ASTN1 · O14525

v62025-08-01

Predicted Aligned Error matrix for ASTN1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

64.4/ 100

Low

1,302 residues

Confidence breakdown

Very high(≥ 90)19%
Confident(70–90)31%
Low(50–70)16%
Very low(< 50)35%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

major depressive disorder
0.42
mathematical ability
0.39
smoking initiation
0.35
blood coagulation disease
0.34
schizophrenia
0.29
cutaneous melanoma
0.28
Abnormal brain morphology
0.27
trauma complication
0.26
cataract
0.26
bipolar disorder
0.26

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Astrotactin-1

Neuronal adhesion molecule that is required for normal migration of young postmitotic neuroblasts along glial fibers, especially in the cerebellum. Required for normal rate of migration of granule cells during brain development and for normal cerebellum development