Gene Ontology annotation through association of InterPro records with GO terms
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Combined Automated Annotation using Multiple IEA Methods
CNS gene encoding astrotactin, which supports neuronal migration along glial fibers.
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Antibodies to astrotactin block granule-cell migration on glia.
"Fab fragments of antibodies to a recombinant astrotactin peptide blocked migration of cerebellar granule neurons in vitro along astroglial fibers."
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Astrotactin acts as a neuron-glia binding ligand.
"Transfection of astrotactin complementary DNA into 3T3 cells indicated that astrotactin acts as a ligand for neuron-glia binding during neuronal migration."
Mice that lack astrotactin have slowed neuronal migration.
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Astn1-null granule cells show less glial binding and slower migration.
"In vitro and in vivo cerebellar granule cell assays show a decrease in neuron-glial binding, a reduction in migration rates and abnormal development of Purkinje cells."
Astn2, a novel member of the astrotactin gene family, regulates the trafficking of ASTN1 during glial-guided neuronal migration.
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ASTN2 complexes with ASTN1 and regulates its surface level.
"Biochemical and flow cytometry experiments show that ASTN2 forms a complex with ASTN1 and regulates surface expression of ASTN1."
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ASTN1 is trafficked to the leading process.
"Live imaging of Venus-tagged ASTN1 in migrating cerebellar granule cells reveals the intracellular trafficking of ASTN1-Venus, with ASTN1-Venus accumulating in the forward aspect of the leading process where new sites of adhesion will form."
Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.
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Bi-allelic ASTN1 variants cause neurodevelopmental disorders.
"Here, we describe eighteen individuals with NDDs from twelve unrelated families with bi-allelic, ultra-rare, predicted damaging variants in ASTN1 and one individual with heterozygous variants in both ASTN1 and ASTN2 ."
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Patients have cortical and cerebellar malformations.
"Brain malformations appreciated were varied and included mild cerebral atrophy, polymicrogyria, lissencephaly, colpocephaly, malformation of the hippocampus, bilateral periventricular hyperintensities, and dysgenesis of the corpus callosum and cerebellum."
UniProt entry O14525 (ASTN1_HUMAN)
Affinage mechanistic annotation for ASTN1 (human)