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Astn1 astrotactin 1 [ Mus musculus (house mouse) ]

Gene ID: 11899, updated on 11-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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See Astn1 in Genome Data Viewer
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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