Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
460
Gene name Gene Name - the full gene name approved by the HGNC.
Astrotactin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ASTN1
Synonyms (NCBI Gene) Gene synonyms aliases
ASTN
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q25.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001764 Process Neuron migration IBA 21873635
GO:0005575 Component Cellular_component ND
GO:0005768 Component Endosome IBA 21873635
GO:0007158 Process Neuron cell-cell adhesion IBA 21873635
GO:0007626 Process Locomotory behavior IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600904 773 ENSG00000152092
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Epilepsy Epilepsy rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670
View all (165 more)
26539891
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
26539891
Narcolepsy Narcolepsy rs104894574, rs387906655 19629137
Unknown
Disease term Disease name Evidence References Source
Mental depression Major Depressive Disorder 29662059 ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Alcoholism Associate 22488871
Bipolar Disorder Associate 22488871
Carcinoma Hepatocellular Inhibit 32945491
Macular dystrophy corneal type 1 Associate 29706646
Neoplasms Inhibit 32945491, 36803573
Precursor Cell Lymphoblastic Leukemia Lymphoma Associate 27650541
Schimke immunoosseous dysplasia Associate 25849153
Schizophrenia Associate 22488871
Small Cell Lung Carcinoma Associate 25863124
Substance Related Disorders Associate 22488871