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Aliases for ASTN1 Gene

Aliases for ASTN1 Gene

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

External Ids for ASTN1 Gene

Previous HGNC Symbols for ASTN1 Gene

  • ASTN

Previous GeneCards Identifiers for ASTN1 Gene

  • GC01M175093
  • 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. Diseases associated with ASTN1 include Schimke Immunoosseous Dysplasia. Among its related pathways are Ectoderm Differentiation. An important paralog of this gene is ASTN2.

UniProtKB/Swiss-Prot 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.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASTN1 Gene

Genomics for ASTN1 Gene

Regulatory Elements for ASTN1 Gene

Enhancers for ASTN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G177208 1.5 FANTOM5 Ensembl ENCODE 10.8 -44.6 -44592 1.7 PKNOX1 SIN3A FEZF1 ZNF2 YY1 FOS TSHZ1 ZNF518A MAFF SMARCA4 BRINP2 ASTN1 LOC105371625
GH01G177181 1.5 FANTOM5 Ensembl ENCODE 3.8 -16.8 -16814 1.2 RB1 KLF17 ZNF2 RAD21 ZNF143 PCBP1 EGR2 ZNF263 ZNF654 SP3 BRINP2 ASTN1 LOC105371625
GH01G176816 0.4 ENCODE 10 +348.6 348554 0.2 ZNF316 MIR488 ASTN1 GC01M176762 GC01P176674
GH01G176995 0.3 FANTOM5 12 +169.8 169782 0.1 ASTN1 MIR488 GC01M177011 GC01M176931
GH01G176815 0.2 ENCODE 10 +349.1 349114 0.2 MIR488 ASTN1 GC01M176762 GC01P176674
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ASTN1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ASTN1 Gene

Chromosome:
1
Start:
176,857,302 bp from pter
End:
177,164,973 bp from pter
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=Translation N-terminally shortened.; 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 posLast=115115, Asn226, Asn382, posLast=453453, posLast=729729, posLast=742742, 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

Protein Domains for ASTN1 Gene

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 for ASTN1 Gene

genes like me logo Genes that share phenotypes with ASTN1: view

Animal Models for ASTN1 Gene

MGI Knock Outs for ASTN1:

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

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

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:0016337 single organismal cell-cell adhesion 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

Unigene Clusters for ASTN1 Gene

Astrotactin 1:
Representative Sequences:

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
ASTN1

Expression for ASTN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of ASTN1 Gene:

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

Primer Products

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 34 35
  • 99.64 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ASTN1 35
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ASTN1 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ASTN1 34 35
  • 92.83 (n)
cow
(Bos Taurus)
Mammalia ASTN1 34 35
  • 91.42 (n)
rat
(Rattus norvegicus)
Mammalia Astn1 34
  • 90.92 (n)
mouse
(Mus musculus)
Mammalia Astn1 34 16 35
  • 90.81 (n)
chicken
(Gallus gallus)
Aves ASTN1 34 35
  • 83.22 (n)
lizard
(Anolis carolinensis)
Reptilia ASTN1 35
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia astn1 34
  • 74.2 (n)
zebrafish
(Danio rerio)
Actinopterygii astn1 34 35
  • 74.03 (n)
Dr.14729 34
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)

Paralogs for ASTN1 Gene

Paralogs for ASTN1 Gene

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

genes like me logo Genes that share paralogs with ASTN1: view

Variants for ASTN1 Gene

Sequence variations from dbSNP and Humsavar for ASTN1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000006158 -- 177,124,504(+) CATGG(C/T)GCTTT intron-variant
rs1000009331 -- 177,103,770(+) AGTGG(C/G)TATTA intron-variant
rs1000024736 -- 176,991,481(+) AGAAA(C/T)GCTAT intron-variant
rs1000026233 -- 177,059,902(+) ATACA(C/T)GGCTT intron-variant
rs1000039501 -- 176,855,296(+) CAACA(A/C/T)CTTAT utr-variant-3-prime

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)

Relevant External Links for ASTN1 Gene

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

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

Disorders for ASTN1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ASTN1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
schimke immunoosseous dysplasia
  • immunoosseous dysplasia, schimke type
- elite association - COSMIC cancer census association via MalaCards
Search ASTN1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ASTN1

Genetic Association Database (GAD)
ASTN1
Human Genome Epidemiology (HuGE) Navigator
ASTN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ASTN1
genes like me logo Genes that share disorders with ASTN1: view

No data available for 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 J.M. … Ross M.E. (Genomics 1997) 2 3 22 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  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) GratacA^s M. … Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009) 3 46 64
  4. Association analysis of schizophrenia on 18 genes involved in neuronal migration: MDGA1 as a new susceptibility gene. (PMID: 18384059) KAohler A.K. … Andreassen O.A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008) 3 46 64
  5. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PMID: 18519826) Uhl G.R. … Lerman C. (Arch. Gen. Psychiatry 2008) 3 46 64

Products for ASTN1 Gene

Sources for ASTN1 Gene

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