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] See more...

Aliases for ASTN1 Gene

Aliases for ASTN1 Gene

  • Astrotactin 1 2 3 5
  • Astrotactin-1 3 4
  • ASTN 3 4
  • Astrotactin 2
  • KIAA0289 4

External Ids for ASTN1 Gene

Previous HGNC Symbols for ASTN1 Gene

  • ASTN

Previous GeneCards Identifiers for ASTN1 Gene

  • GC01M175093
  • GC01M176826
  • GC01M148056

Summaries for ASTN1 Gene

Entrez Gene Summary for ASTN1 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, Jun 2009]

GeneCards Summary for ASTN1 Gene

ASTN1 (Astrotactin 1) is a Protein Coding gene. Among its related pathways are Ectoderm Differentiation. An important paralog of this gene is ASTN2.

UniProtKB/Swiss-Prot Summary for ASTN1 Gene

  • 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.

Additional gene information for ASTN1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ASTN1 Gene

Genomics for ASTN1 Gene

GeneHancer (GH) Regulatory Elements for ASTN1 Gene

Promoters and enhancers for ASTN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J177166 Promoter 1.6 EPDnew Ensembl CraniofacialAtlas 500.7 +1.1 1051 2.6 ZSCAN5C ZBTB26 HDAC2 EZH2 KLF9 CREB1 SMC3 ZBTB17 MXI1 ZNF76 ASTN1 piR-45035-014
GH01J177032 Promoter 0.6 EPDnew 500.1 +132.4 132371 0.1 ZBTB11 ATF2 CREM E2F1 ATF1 ASTN1 MIR488 piR-45035-014
GH01J177206 Enhancer 1.2 FANTOM5 Ensembl ENCODE 10.8 -43.8 -43828 3.6 ZSCAN5C TCF12 FOS ZNF639 ZIC2 TRIM28 EP300 ZEB1 ZNF341 ZNF274 BRINP2 ASTN1 LOC105371625
GH01J176544 Enhancer 0.8 Ensembl 10.3 +619.9 619872 1.4 ZNF354C ZNF623 ZNF510 ZNF341 ZNF266 ZBTB11 ZNF426 ZNF213 ZNF189 ZNF654 COP1 ASTN1 TNR piR-53531 PTP4A1P7 PAPPA2 lnc-PAPPA2-4
GH01J177142 Enhancer 0.6 Ensembl 11.8 +22.0 21972 0.8 ZNF341 OSR2 ZBTB17 TCF7L2 PRDM6 FEZF1 PRDM4 INSM2 ZBTB12 PRDM10 piR-45035-014 ASTN1 BRINP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASTN1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ASTN1

Top Transcription factor binding sites by QIAGEN in the ASTN1 gene promoter:
  • AP-4
  • CBF(2)
  • NF-Y
  • Nkx2-5
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v4
  • Pbx1a
  • SRY

Genomic Locations for ASTN1 Gene

Genomic Locations for ASTN1 Gene
chr1:176,857,302-177,164,973
(GRCh38/hg38)
Size:
307,672 bases
Orientation:
Minus strand
chr1:176,826,438-177,134,109
(GRCh37/hg19)
Size:
307,672 bases
Orientation:
Minus strand

Genomic View for ASTN1 Gene

Genes around ASTN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASTN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASTN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASTN1 Gene

Proteins for ASTN1 Gene

  • Protein details for ASTN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14525-ASTN1_HUMAN
    Recommended name:
    Astrotactin-1
    Protein Accession:
    O14525
    Secondary Accessions:
    • A5PL12
    • B4DHI9
    • E9PFR8
    • O60799
    • Q5W0V7
    • Q5W0V8

    Protein attributes for ASTN1 Gene

    Size:
    1302 amino acids
    Molecular mass:
    144913 Da
    Quaternary structure:
    • Interacts with ASTN2; the interaction is not calcium-dependent.
    SequenceCaution:
    • Sequence=BAA22958.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for ASTN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASTN1 Gene

Post-translational modifications for ASTN1 Gene

  • Glycosylation at Asn115, Asn453, Asn729, Asn742, Asn804, and Asn984
  • Modification sites at PhosphoSitePlus

Other Protein References for ASTN1 Gene

No data available for DME Specific Peptides for ASTN1 Gene

Domains & Families for ASTN1 Gene

Gene Families for ASTN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for ASTN1 Gene

Blocks:
  • Type I EGF
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ASTN1 Gene

GenScript: Design optimal peptide antigens:
  • Astrotactin, isoform CRA_c (A5PL12_HUMAN)
  • Astrotactin, isoform CRA_b (A6H8Y4_HUMAN)
  • Astrotactin-1 (ASTN1_HUMAN)
  • Astrotactin 1 (B1AJS5_HUMAN)
  • Astrotactin 1 (B1AK12_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O14525

UniProtKB/Swiss-Prot:

ASTN1_HUMAN :
  • Belongs to the astrotactin family.
Family:
  • Belongs to the astrotactin family.
genes like me logo Genes that share domains with ASTN1: view

Function for ASTN1 Gene

Molecular function for ASTN1 Gene

UniProtKB/Swiss-Prot 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 cerebellum development.

Phenotypes From GWAS Catalog for ASTN1 Gene

Gene Ontology (GO) - Molecular Function for ASTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with ASTN1: view
genes like me logo Genes that share phenotypes with ASTN1: view

Animal Models for ASTN1 Gene

MGI Knock Outs for ASTN1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASTN1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ASTN1 Gene

Localization for ASTN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASTN1 Gene

Cell membrane; Multi-pass membrane protein. Perikaryon. Endosome. Cytoplasmic vesicle, clathrin-coated vesicle. Note=Detected close to the anterior pole and at the base of the leading process in migrating neurons. Is internalized from the membrane via clathrin-coated vesicles and endosomes, and recycled to the anterior pole of the migrating cell. {ECO:0000250 UniProtKB:Q61137}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ASTN1 gene
Compartment Confidence
plasma membrane 4
endosome 3
extracellular 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ASTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005768 endosome IEA --
GO:0005886 plasma membrane IEA --
GO:0009897 external side of plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ASTN1: view

Pathways & Interactions for ASTN1 Gene

PathCards logo

SuperPathways for ASTN1 Gene

SuperPathway Contained pathways
1 Ectoderm Differentiation
genes like me logo Genes that share pathways with ASTN1: view

Pathways by source for ASTN1 Gene

1 BioSystems pathway for ASTN1 Gene

Interacting Proteins for ASTN1 Gene

;

Gene Ontology (GO) - Biological Process for ASTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration IEA --
GO:0007155 cell adhesion IEA --
GO:0007158 neuron cell-cell adhesion IEA --
GO:0007626 locomotory behavior IEA --
GO:0016477 cell migration IEA --
genes like me logo Genes that share ontologies with ASTN1: view

No data available for SIGNOR curated interactions for ASTN1 Gene

Drugs & Compounds for ASTN1 Gene

No Compound Related Data Available

Transcripts for ASTN1 Gene

mRNA/cDNA for ASTN1 Gene

4 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASTN1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ASTN1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
SP1: - - -
SP2:
SP3: -
SP4:

ExUns: 22 ^ 23 ^ 24 ^ 25a · 25b ^ 26
SP1: -
SP2:
SP3:
SP4:

Relevant External Links for ASTN1 Gene

GeneLoc Exon Structure for
ASTN1

Expression for ASTN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ASTN1 Gene

mRNA differential expression in normal tissues according to GTEx for ASTN1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x5.5), Brain - Anterior cingulate cortex (BA24) (x5.4), Brain - Cortex (x5.3), Brain - Nucleus accumbens (basal ganglia) (x5.0), and Brain - Amygdala (x4.3).

Protein differential expression in normal tissues from HIPED for ASTN1 Gene

This gene is overexpressed in Ovary (21.1), Brain (18.0), Fetal Brain (15.5), and Frontal cortex (11.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ASTN1 Gene



Protein tissue co-expression partners for ASTN1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ASTN1

SOURCE GeneReport for Unigene cluster for ASTN1 Gene:

Hs.495897

Evidence on tissue expression from TISSUES for ASTN1 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with ASTN1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASTN1 Gene

Orthologs for ASTN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ASTN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASTN1 31 30
  • 99.64 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASTN1 31
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ASTN1 31
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ASTN1 31 30
  • 92.83 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ASTN1 31 30
  • 91.42 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Astn1 30
  • 90.92 (n)
mouse
(Mus musculus)
Mammalia Astn1 17 31 30
  • 90.81 (n)
chicken
(Gallus gallus)
Aves ASTN1 31 30
  • 83.22 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ASTN1 31
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia astn1 30
  • 74.2 (n)
zebrafish
(Danio rerio)
Actinopterygii astn1 31 30
  • 74.03 (n)
OneToOne
Dr.14729 30
Species where no ortholog for ASTN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ASTN1 Gene

ENSEMBL:
Gene Tree for ASTN1 (if available)
TreeFam:
Gene Tree for ASTN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ASTN1: view image

Paralogs for ASTN1 Gene

Paralogs for ASTN1 Gene

(1) SIMAP similar genes for ASTN1 Gene using alignment to 4 proteins:

  • ASTN1_HUMAN
  • A6H8Y4_HUMAN
  • B1AJS1_HUMAN
  • Q96BL7_HUMAN
genes like me logo Genes that share paralogs with ASTN1: view

Variants for ASTN1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ASTN1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
719893 Likely Benign: not provided 176,965,234(-) T/C SYNONYMOUS_VARIANT
rs12118933 -. - p.Gly1270Argp.Arg1278Gly
rs138686233 Likely Pathogenic: Abnormality of brain morphology 176,945,951(-) C/G MISSENSE_VARIANT
rs151246825 Uncertain Significance: Abnormality of the corpus callosum 176,882,938(-) T/G MISSENSE_VARIANT
rs1553217993 Not Provided: not provided 176,868,976(-) T/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ASTN1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ASTN1 Gene

Variant ID Type Subtype PubMed ID
esv2673141 CNV deletion 23128226
esv3588008 CNV loss 21293372
esv3588011 CNV loss 21293372
nsv1000611 CNV gain 25217958
nsv1068718 CNV deletion 25765185
nsv3677 CNV deletion 18451855
nsv476444 CNV novel sequence insertion 20440878

Variation tolerance for ASTN1 Gene

Residual Variation Intolerance Score: 8.72% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.84; 67.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASTN1 Gene

Human Gene Mutation Database (HGMD)
ASTN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASTN1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASTN1 Gene

Disorders for ASTN1 Gene

Additional Disease Information for ASTN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ASTN1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ASTN1 Gene

Publications for ASTN1 Gene

  1. Astrotactin (ASTN), a gene for glial-guided neuronal migration, maps to human chromosome 1q25.2. (PMID: 9070947) Fink JM … Ross ME (Genomics 1997) 2 3 23 54
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  3. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PMID: 19086053) Gratacòs M … Psychiatric Genetics Network Group (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 41 54
  4. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PMID: 18519826) Uhl GR … Lerman C (Archives of general psychiatry 2008) 3 41 54
  5. Association analysis of schizophrenia on 18 genes involved in neuronal migration: MDGA1 as a new susceptibility gene. (PMID: 18384059) Kähler AK … Andreassen OA (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008) 3 41 54

Products for ASTN1 Gene

Sources for ASTN1 Gene