Gene Gene information from NCBI Gene database.
Entrez ID 460
Gene name Astrotactin 1
Gene symbol ASTN1
Synonyms (NCBI Gene)
ASTN
Chromosome 1
Chromosome location 1q25.2
Summary Astrotactin is a neuronal adhesion molecule required for glial-guided migration of young postmitotic neuroblasts in cortical regions of developing brain, including cerebrum, hippocampus, cerebellum, and olfactory bulb (Fink et al., 1995).[supplied by OMIM
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs138686233 C>G,T Likely-pathogenic Non coding transcript variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
174
miRTarBase ID miRNA Experiments Reference
MIRT019216 hsa-miR-335-5p Microarray 18185580
MIRT446124 hsa-miR-4324 PAR-CLIP 22100165
MIRT446123 hsa-miR-544b PAR-CLIP 22100165
MIRT446122 hsa-miR-3928-3p PAR-CLIP 22100165
MIRT446121 hsa-miR-6804-5p PAR-CLIP 22100165
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0001764 Process Neuron migration IBA
GO:0001764 Process Neuron migration IEA
GO:0001764 Process Neuron migration IEA
GO:0005515 Function Protein binding IPI 31169361, 32296183
GO:0005768 Component Endosome IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600904 773 ENSG00000152092
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14525
Protein name Astrotactin-1
Protein function 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 ce
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14670 FXa_inhibition 660 707 Domain
PF18411 Annexin_like 1153 1245 Annexin-like domain Domain
Sequence
MALAGLCALLACCWGPAAVLATAAGDVDPSKELECKLKSITVSALPFLRENDLSIMHSPS
ASEPKLLFSVRNDFPGEMVVVDDLENTELPYFVLEISGNTEDIPLVRWRQQWLENGTLLF
HIHHQDGAPSLPGQDPTEEPQHESAEEELRILHISVMGGMIALLLSILCLVMILYTRRRW
CKRRRVPQPQKSASAEAANEIHYIPSVLIGGHGRESLRNARVQGHNSSGTLSIRETPILD
GYEYDITDLRHHLQRECMNGGEDFASQVTRTLDSLQGCNEKSGMDLTPGSDNAKLSLMNK
YKDNIIATSPVDSNHQQATLLSHTSSSQRKRINNKARAGSAFLNPEGDSGTEAENDPQLT
FYTDPSRSRRRSRVGSPRSPVNKTTLTLISITSCVIGLVCSSHVNCPLVVKITLHVPEHL
IADGSRFILLEGSQLDASDWLNPAQVVLFSQQNSSGPWAMDLCARRLLDPCEHQCDPETG
RREHRAAGECLCYEGYMKDPVHKHLCIRNEWGTNQGPWPYTIFQRGFDLVLGEQPSDKIF
RFTYTLGEGMWLPLSKSFVIPPAELAINPSAKCKTDMTVMEDAVEVREELMTSSSFDSLE
VLLDSFGPVRDCSKDNGGCSKNFRCISDRKLDSTGCVCPSGLSPMKDSSGCYDRHIGVDC
SDGFNGGCEQLCLQQMAPFPDDPTLYNILMFCGCIEDYKLGVDGRSC
QLITETCPEGSDC
GESRELPMNQTLFGEMFFGYNNHSKEVAAGQVLKGTFRQNNFARGLDQQLPDGLVVATVP
LENQCLEEISEPTPDPDFLTGMVNFSEVSGYPVLQHWKVRSVMYHIKLNQVAISQALSNA
LHSLDGATSRADFVALLDQFGNHYIQEAIYGFEESCSIWYPNKQVQRRLWLEYEDISKGN
SPSDESEERERDPKVLTFPEYITSLSDSGTKHMAAGVRMECHSKGRCPSSCPLCHVTSSP
DTPAEPVLLEVTKAAPIYELVTNNQTQRLLQEATMSSLWCSGTGDVIEDWCRCDSTAFGA
DGLPTCAPLPQPVLRLSTVHEPSSTLVVLEWEHSEPPIGVQIVDYLLRQEKVTDRMDHSK
VETETVLSFVDDIISGAKSPCAMPSQVPDKQLTTISLIIRCLEPDTIYMFTLWGVDNTGR
RSRPSDVIVKTPCPVVDDVKAQEIADKIYNLFNGYTSGKEQQTAYNTLLDLGSPTLHRVL
YHYNQHYESFGEFTWRCEDELGPRKAGLILSQLGDLSSWCNGLLQ
EPKISLRRSSLKYLG
CRYSEIKPYGLDWAELSRDLRKTCEEQTLSIPYNDYGDSKEI
Sequence length 1302
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormal brain morphology Likely pathogenic rs138686233 RCV000454328
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Abnormal corpus callosum morphology Conflicting classifications of pathogenicity; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTN1-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN INJURIES CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autistic Disorder Autism BEFREE 30242134
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 22488871
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar disorder Pubtator 22488871 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 32945491 Inhibit
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 30509219
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 30509219
★☆☆☆☆
Found in Text Mining only
Dermatitis Dermatitis BEFREE 28456618
★☆☆☆☆
Found in Text Mining only
Dermatitis, Atopic Dermatitis BEFREE 28456618
★☆☆☆☆
Found in Text Mining only
Eczema Eczema BEFREE 28456618
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy GENOMICS_ENGLAND_DG 26539891
★☆☆☆☆
Found in Text Mining only