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ASTN1 astrotactin 1 [ Homo sapiens (human) ]

Gene ID: 460, updated on 1-Jun-2020

Summary

Official Symbol
ASTN1provided by HGNC
Official Full Name
astrotactin 1provided by HGNC
Primary source
HGNC:HGNC:773
See related
Ensembl:ENSG00000152092 MIM:600904
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ASTN
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]
Expression
Biased expression in brain (RPKM 17.5), adrenal (RPKM 5.3) and 1 other tissue See more
Orthologs

Genomic context

See ASTN1 in Genome Data Viewer
Location:
1q25.2
Exon count:
26
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (176855117..177164904, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (176826441..177134024, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene mortality factor 4 like 1 pseudogene 7 Neighboring gene pappalysin 2 Neighboring gene PTP4A1 pseudogene 7 Neighboring gene GATA motif-containing MPRA enhancer 65 Neighboring gene microRNA 488 Neighboring gene uncharacterized LOC105371625 Neighboring gene BMP/retinoic acid inducible neural specific 2 Neighboring gene long intergenic non-protein coding RNA 1645

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1747

Gene Ontology Provided by GOA

Process Evidence Code Pubs
locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
neuron cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron cell-cell adhesion IEA
Inferred from Electronic Annotation
more info
 
neuron migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron migration IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
clathrin-coated vesicle IEA
Inferred from Electronic Annotation
more info
 
endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endosome IEA
Inferred from Electronic Annotation
more info
 
external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
perikaryon IEA
Inferred from Electronic Annotation
more info
 

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001286164.1NP_001273093.1  astrotactin-1 isoform 3 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and uses an alternate exon in the 3' coding region. The encoded isoform (3) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AL021398, AL022145, AL031290, BC032870
    Consensus CDS
    CCDS65732.1
    UniProtKB/TrEMBL
    B1AJS1
    Related
    ENSP00000356629.3, ENST00000367657.7
    Conserved Domains (2) summary
    smart00457
    Location:804991
    MACPF; membrane-attack complex / perforin
    pfam14670
    Location:652699
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  2. NM_001364856.1NP_001351785.1  astrotactin-1 isoform 4 precursor

    Status: VALIDATED

    Source sequence(s)
    AL021398, AL022145, AL031290, AL136983
    Conserved Domains (2) summary
    smart00457
    Location:812999
    MACPF; membrane-attack complex / perforin
    pfam14670
    Location:660707
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  3. NM_004319.3NP_004310.1  astrotactin-1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_004310.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and it encodes the longest isoform (1).
    Source sequence(s)
    AL021398, AL031290, BC146795, BF507471
    Consensus CDS
    CCDS1319.1
    UniProtKB/TrEMBL
    A6H8Y4
    Related
    ENSP00000354536.2, ENST00000361833.7
    Conserved Domains (2) summary
    smart00457
    Location:804991
    MACPF; membrane-attack complex / perforin
    pfam14670
    Location:652699
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  4. NM_207108.2NP_996991.1  astrotactin-1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_996991.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses a different splice site in the 3' coding region and 3' UTR, compared to variant 1. The resulting protein (isoform 2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AL021398, AL031290, BC142697
    Consensus CDS
    CCDS44280.1
    UniProtKB/Swiss-Prot
    O14525
    Related
    ENSP00000395041.2, ENST00000424564.2
    Conserved Domains (2) summary
    smart00457
    Location:804991
    MACPF; membrane-attack complex / perforin
    pfam14670
    Location:652699
    FXa_inhibition; Coagulation Factor Xa inhibitory site

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    176855117..177164904 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001341.2XP_016856830.1  astrotactin-1 isoform X2

RNA

  1. XR_001737194.1 RNA Sequence

  2. XR_001737193.2 RNA Sequence

  3. XR_921796.3 RNA Sequence

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