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    Atl1 atlastin GTPase 1 [ Mus musculus (house mouse) ]

    Gene ID: 73991, updated on 23-Dec-2024

    Summary

    Official Symbol
    Atl1provided by MGI
    Official Full Name
    atlastin GTPase 1provided by MGI
    Primary source
    MGI:MGI:1921241
    See related
    Ensembl:ENSMUSG00000021066 AllianceGenome:MGI:1921241
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Fsp1; Spg3; Adfsp; Spg3a; 4930435M24Rik
    Summary
    This gene encodes a member of the dynamin family of GTPases. The encoded protein interacts with tubule-shaping proteins of the endoplasmic reticulum. Mutations in the homologous human gene can cause hereditary spastic paraplegia. [provided by RefSeq, Feb 2010]
    Expression
    Biased expression in CNS E18 (RPKM 20.0), frontal lobe adult (RPKM 19.8) and 11 other tissues See more
    Orthologs
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    Genomic context

    See Atl1 in Genome Data Viewer
    Location:
    12 C2; 12 28.94 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (69939879..70010859)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (69893105..69964085)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4930512B01 gene Neighboring gene mitogen-activated protein kinase kinase kinase kinase 5 Neighboring gene STARR-seq mESC enhancer starr_32378 Neighboring gene ribosomal protein S2 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E8487 Neighboring gene RIKEN cDNA 4931403G20 gene Neighboring gene CapStarr-seq enhancer MGSCv37_chr12:70968432-70968671 Neighboring gene STARR-seq mESC enhancer starr_32379 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene STARR-seq mESC enhancer starr_32381 Neighboring gene RuvB-like protein 1 pseudogene Neighboring gene predicted gene, 52003 Neighboring gene synaptotagmin binding, cytoplasmic RNA interacting protein pseudogene Neighboring gene salvador family WW domain containing 1 Neighboring gene predicted gene, 19221

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (5) 
    • Targeted (3)  1 citation

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTP binding  
    enables GTP binding  
    enables GTP binding  
    enables GTPase activity  
    enables GTPase activity  
    enables GTPase activity  
    enables identical protein binding  
    enables identical protein binding  
    enables protein binding PubMed 
    Process Evidence Code Pubs
    involved_in axonogenesis  
    involved_in axonogenesis  
    involved_in endoplasmic reticulum organization  
    involved_in endoplasmic reticulum organization  
    involved_in endoplasmic reticulum organization  
    involved_in endoplasmic reticulum tubular network membrane organization  
    involved_in endoplasmic reticulum tubular network membrane organization  
    involved_in protein homooligomerization  
    involved_in protein homooligomerization  
    involved_in protein homooligomerization  
    Component Evidence Code Pubs
    located_in Golgi apparatus  
    located_in Golgi apparatus  
    located_in Golgi cis cisterna  
    located_in Golgi cis cisterna  
    located_in Golgi membrane  
    located_in axon  
    located_in cytoplasm PubMed 
    located_in endoplasmic reticulum  
    located_in endoplasmic reticulum  
    located_in endoplasmic reticulum membrane  
    located_in endoplasmic reticulum membrane  
    located_in endoplasmic reticulum tubular network PubMed 
    located_in endoplasmic reticulum tubular network membrane  
    located_in endoplasmic reticulum tubular network membrane  
    located_in membrane  
    located_in membrane  

    General protein information

    Preferred Names
    atlastin-1
    Names
    spastic paraplegia 3A homolog
    NP_848743.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_178628.5NP_848743.1  atlastin-1

      See identical proteins and their annotated locations for NP_848743.1

      Status: REVIEWED

      Source sequence(s)
      AC166827, AK046919, AK050339, CX236218
      Consensus CDS
      CCDS36465.1
      UniProtKB/Swiss-Prot
      Q8BH66, Q8BJH5
      Related
      ENSMUSP00000021466.9, ENSMUST00000021466.10
      Conserved Domains (1) summary
      pfam02263
      Location:43314
      GBP; Guanylate-binding protein, N-terminal domain

    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_000078.7 Reference GRCm39 C57BL/6J

      Range
      69939879..70010859
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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