1. Gene
  2. ASTN1 - astrotactin 1 Gene

ASTN1 - astrotactin 1 Gene

Homo sapiens

Also known as ASTN

Gene ID: 460 | Gene type: protein coding

About ASTN1

Cytogenetic location: 1q25.2 Genomic coordinates (GRCh38): 1:176,857,321-177,164,712 (from NCBI)

This gene has 5 transcripts (splice variants), 215 orthologues and 1 paralogue. Biased expression in brain (RPKM 17.5), adrenal (RPKM 5.3) and 1 other tissue.

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, Jun 2009]

ASTN1 Products(4)

mRNA Protein Name
NM_001286164.2 NP_001273093.1 astrotactin-1 isoform 3 precursor
NM_001364856.2 NP_001351785.1 astrotactin-1 isoform 4 precursor
NM_004319.3 NP_004310.1 astrotactin-1 isoform 1 precursor
NM_207108.3 NP_996991.1 astrotactin-1 isoform 2 precursor
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
31169361 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ASTN1 Protein Structure

FXa_inhibition

FXa_inhibition: Coagulation Factor Xa inhibitory site (652 - 699)

  • 0
  • 200
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  • 800
  • 1000
  • 1200
  • 1294 a.a.
Protein Preferred Names Protein Names

astrotactin-1

Related Diseases

Diseases Alias
Ritscher-Schinzel Syndrome 1

3c Syndrome

Craniocerebellocardiac Dysplasia

RTSC1

Dandy-Walker-Like Malformation With Atrioventricular Septal Defect

Dandy-Walker Like Malformation With Atrioventricular Septal Defect

Cranio-Cerebello-Cardiac Dysplasia

Dandy-Walker-Like Malformation With Asd

Ritscher Schinzel Syndrome

Ritscher-Schinzel Cranio-Cerebello-Cardiac Syndrome

Ritscher-Schinzel Syndrome

3c

Migraine, Familial Hemiplegic, 1

FHM1

Mhp1

Fhm

Familial Hemiplegic Migraine 1

Migraine, Familial Hemiplegic, 1, With Progressive Cerebellar Ataxia

Familial Hemiplegic Migraine1 With Progressive Cerebellar Ataxia

Migraine Familial Hemiplegic With Progressive Cerebellar Ataxia

Migraine, Hemiplegic, Familial, Type 1

Hemiplegic Migraine, Familial Type 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta ASTN1 VGNC VGNC:70167
Felis catus ASTN1 VGNC VGNC:68452
Canis familiaris ASTN1 VGNC VGNC:38194
Bos taurus ASTN1 VGNC VGNC:26227
Rattus norvegicus ASTN1 RGD RGD:727799
Mus musculus ASTN1 MGD MGI:1098567