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    Astn1 astrotactin 1 [ Mus musculus (house mouse) ]

    Gene ID: 11899, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Astn1provided by MGI
    Official Full Name
    astrotactin 1provided by MGI
    Primary source
    MGI:MGI:1098567
    See related
    Ensembl:ENSMUSG00000026587 AllianceGenome:MGI:1098567
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Astn; GC14; mKIAA0289
    Summary
    Acts upstream of or within locomotory behavior; neuron cell-cell adhesion; and neuron migration. Located in endosome and external side of plasma membrane. Is integral component of membrane. Is expressed in central nervous system and retina. Orthologous to human ASTN1 (astrotactin 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in frontal lobe adult (RPKM 19.5), cortex adult (RPKM 15.6) and 6 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    1 68.35 cM; 1 H1
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (158189647..158519351)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (158362102..158691786)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 39686 Neighboring gene STARR-seq mESC enhancer starr_02774 Neighboring gene STARR-seq mESC enhancer starr_02775 Neighboring gene VISTA enhancer mm1369 Neighboring gene bone morphogenic protein/retinoic acid inducible neural-specific 2 Neighboring gene STARR-seq mESC enhancer starr_02777 Neighboring gene predicted gene, 37679 Neighboring gene microRNA 488 Neighboring gene STARR-seq mESC enhancer starr_02778 Neighboring gene predicted gene, 53639 Neighboring gene STARR-seq mESC enhancer starr_02779 Neighboring gene pappalysin 2 Neighboring gene STARR-seq mESC enhancer starr_02780 Neighboring gene RIKEN cDNA 1600012P17 gene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Murine astrotactins 1 and 2 have a similar membrane topology and mature via endoproteolytic cleavage catalyzed by a signal peptidase. Lara P, et al. J Biol Chem, 2019 Mar 22. PMID 30696770, Free PMC Article
    2. Mice that lack astrotactin have slowed neuronal migration. Adams NC, et al. Development, 2002 Feb. PMID 11861479
    3. Astrotactin (ASTN), a gene for glial-guided neuronal migration, maps to human chromosome 1q25.2. Fink JM, et al. Genomics, 1997 Feb 15. PMID 9070947
    4. CNS gene encoding astrotactin, which supports neuronal migration along glial fibers. Zheng C, et al. Science, 1996 Apr 19. PMID 8602532
    5. Astrotactin provides a receptor system for CNS neuronal migration. Fishell G, et al. Development, 1991 Nov. PMID 1821847

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Differences in the degree of Astn1 and Astn2 maturation possibly contribute to the higher levels of the C-terminal domain of Astn1 detected on neuronal membranes of the central nervous system
      Title: Murine astrotactins 1 and 2 have a similar membrane topology and mature via endoproteolytic cleavage catalyzed by a signal peptidase.
    2. astrotactin is required for appropriate and timely migration of cerebellar granule cells.
      Title: Mice that lack astrotactin have slowed neuronal migration.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (1)  1 citation
    • Endonuclease-mediated (3) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cell-cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within locomotory behavior IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neuron cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within neuron cell-cell adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in neuron migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within neuron migration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within neuron migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    astrotactin-1
    Names
    neuronal migration protein GC14

    NCBI Reference Sequences (RefSeq)

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    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_001205204.2 → NP_001192133.1  astrotactin-1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001192133.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC091266, AC118728, AC119867, AC158910
      Consensus CDS
      CCDS56648.1
      UniProtKB/Swiss-Prot
      G5E8A1, Q505A0, Q61137, Q7TQG3, Q8CHH2
      UniProtKB/TrEMBL
      A0A0A6YWE6
      Related
      ENSMUSP00000142322.2, ENSMUST00000193042.6
      Conserved Domains (3) summary
      smart00457
      Location:812 → 999
      MACPF; membrane-attack complex / perforin
      cd00063
      Location:1030 → 1151
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam14670
      Location:660 → 707
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    2. NM_007495.5 → NP_031521.2  astrotactin-1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_031521.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC091266, AC118728, AC119867, AC158910
      Consensus CDS
      CCDS78721.1
      UniProtKB/TrEMBL
      A0A0A6YWE6, Q3UHD7
      Related
      ENSMUSP00000039711.11, ENSMUST00000046110.16
      Conserved Domains (3) summary
      smart00457
      Location:804 → 991
      MACPF; membrane-attack complex / perforin
      cd00063
      Location:1022 → 1143
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam14670
      Location:652 → 699
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      158189647..158519351
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011238739.4 → XP_011237041.1  astrotactin-1 isoform X1

      UniProtKB/TrEMBL
      A0A0A6YWE6
      Conserved Domains (4) summary
      smart00457
      Location:812 → 1015
      MACPF; membrane-attack complex / perforin
      pfam14670
      Location:660 → 707
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      pfam18411
      Location:1169 → 1261
      Annexin_like; Annexin-like domain
      pfam18577
      Location:1265 → 1310
      ASTN_2_hairpin; Astrotactin-2 C-terminal beta-hairpin domain

    2. XM_011238740.3 → XP_011237042.1  astrotactin-1 isoform X2

      UniProtKB/TrEMBL
      A0A0A6YWE6
      Conserved Domains (4) summary
      smart00457
      Location:804 → 1007
      MACPF; membrane-attack complex / perforin
      pfam14670
      Location:652 → 699
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      pfam18411
      Location:1161 → 1253
      Annexin_like; Annexin-like domain
      pfam18577
      Location:1257 → 1302
      ASTN_2_hairpin; Astrotactin-2 C-terminal beta-hairpin domain

    3. XM_036155379.1 → XP_036011272.1  astrotactin-1 isoform X3

      UniProtKB/TrEMBL
      A0A0A6YWE6
      Related
      ENSMUSP00000141518.2, ENSMUST00000195311.6
      Conserved Domains (2) summary
      smart00457
      Location:812 → 1015
      MACPF; membrane-attack complex / perforin
      pfam14670
      Location:660 → 707
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    4. XM_036155405.1 → XP_036011298.1  astrotactin-1 isoform X4

      UniProtKB/TrEMBL
      A0A0A6YXJ4
      Conserved Domains (2) summary
      pfam14670
      Location:660 → 707
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl02616
      Location:812 → 907
      MACPF; MAC/Perforin domain

    5. XM_036155409.1 → XP_036011302.1  astrotactin-1 isoform X5

      UniProtKB/TrEMBL
      A0A0A6YXJ4
      Conserved Domains (2) summary
      pfam14670
      Location:652 → 699
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl02616
      Location:804 → 899
      MACPF; MAC/Perforin domain

    6. XM_036155415.1 → XP_036011308.1  astrotactin-1 isoform X6

      UniProtKB/TrEMBL
      A0A0A6YXJ4, Q3TPU9
      Related
      ENSMUSP00000127428.2, ENSMUST00000170718.7
      Conserved Domains (1) summary
      pfam14670
      Location:660 → 707
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    7. XM_036155426.1 → XP_036011319.1  astrotactin-1 isoform X7

      UniProtKB/TrEMBL
      A0A0A6YXJ4
      Related
      ENSMUSP00000142017.2, ENSMUST00000194369.6
      Conserved Domains (1) summary
      pfam14670
      Location:652 → 699
      FXa_inhibition; Coagulation Factor Xa inhibitory site
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q61137.4 GenPept UniProtKB/Swiss-Prot:Q61137

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