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    Spast spastin [ Mus musculus (house mouse) ]

    Gene ID: 50850, updated on 22-Aug-2021

    Summary

    Official Symbol
    Spastprovided by MGI
    Official Full Name
    spastinprovided by MGI
    Primary source
    MGI:MGI:1858896
    See related
    Ensembl:ENSMUSG00000024068
    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
    Sp; Spg4; mKIAA1083
    Expression
    Broad expression in CNS E18 (RPKM 14.2), whole brain E14.5 (RPKM 14.2) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Spast in Genome Data Viewer
    Location:
    17; 17 E2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (74643805..74698110)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (74337923..74391115)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 17 NC_000083.5 (74738327..74790453)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene predicted gene 9349 Neighboring gene ribosomal protein L32 pseudogene Neighboring gene solute carrier family 30 (zinc transporter), member 6 Neighboring gene NLR family, CARD domain containing 4 Neighboring gene predicted gene 4708

    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)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables alpha-tubulin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables beta-tubulin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables isomerase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables microtubule binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables microtubule-severing ATPase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in anterograde axonal transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in axonal transport of mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cytokinetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in exit from mitosis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in membrane fission ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in microtubule bundle formation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within microtubule severing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within microtubule severing IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within microtubule severing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in microtubule severing ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in mitotic cytokinesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in mitotic spindle disassembly ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nuclear membrane reassembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cytokinesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein hexamerization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein homooligomerization ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasmic vesicle ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endoplasmic reticulum tubular network ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with endosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lipid droplet IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in microtubule cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with microtubule cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with midbody ISO
    Inferred from Sequence Orthology
    more info
     
    located_in midbody ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nuclear membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    spastin
    Names
    spastic paraplegia 4 homolog
    NP_001156342.1
    NP_001344667.1
    NP_058658.2
    XP_006524673.1
    XP_036016574.1

    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_001162870.1NP_001156342.1  spastin isoform 1

      See identical proteins and their annotated locations for NP_001156342.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC169506, AJ246002, CF531661, CJ047532
      Consensus CDS
      CCDS50181.1
      UniProtKB/Swiss-Prot
      Q9QYY8
      Related
      ENSMUSP00000024869.7, ENSMUST00000024869.8
      Conserved Domains (5) summary
      smart00382
      Location:372508
      AAA; ATPases associated with a variety of cellular activities
      cd02679
      Location:114193
      MIT_spastin; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be ...
      pfam00004
      Location:376506
      AAA; ATPase family associated with various cellular activities (AAA)
      pfam09336
      Location:578610
      Vps4_C; Vps4 C terminal oligomerization domain
      cl21455
      Location:339395
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    2. NM_001357738.1NP_001344667.1  spastin isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC169506, AI666403
      Consensus CDS
      CCDS89152.1
      Related
      ENSMUSP00000156393.2, ENSMUST00000233611.2
      Conserved Domains (2) summary
      COG0464
      Location:262562
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
      cd02679
      Location:114192
      MIT_spastin; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be ...
    3. NM_016962.2NP_058658.2  spastin isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. This results in a shorter protein (isoform 2) compared to isoform 1.
      Source sequence(s)
      AC169506, AK007793, CF531661
      Consensus CDS
      CCDS89151.1
      UniProtKB/Swiss-Prot
      Q9QYY8
      UniProtKB/TrEMBL
      A0A286YE25
      Related
      ENSMUSP00000153469.2, ENSMUST00000224711.2
      Conserved Domains (5) summary
      smart00382
      Location:371507
      AAA; ATPases associated with a variety of cellular activities
      cd02679
      Location:114192
      MIT_spastin; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be ...
      pfam00004
      Location:375505
      AAA; ATPase family associated with various cellular activities (AAA)
      pfam09336
      Location:577609
      Vps4_C; Vps4 C terminal oligomerization domain
      cl21455
      Location:338394
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000083.7 Reference GRCm39 C57BL/6J

      Range
      74643805..74698110
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006524610.5XP_006524673.1  spastin isoform X1

      Conserved Domains (2) summary
      COG0464
      Location:263563
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
      cd02679
      Location:114193
      MIT_spastin; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be ...
    2. XM_036160681.1XP_036016574.1  spastin isoform X2

      Conserved Domains (4) summary
      pfam09336
      Location:518550
      Vps4_C; Vps4 C terminal oligomerization domain
      pfam17862
      Location:471525
      AAA_lid_3; AAA+ lid domain
      cd19524
      Location:281444
      RecA-like_spastin; ATPase domain of spastin
      cl00299
      Location:114182
      MIT; domain contained within Microtubule Interacting and Trafficking molecules. The MIT domain is found in sorting nexins, the nuclear thiol protease PalBH, the AAA protein spastin and archaebacterial proteins with similar domain architecture, vacuolar ...

    RNA

    1. XR_001782088.3 RNA Sequence

    2. XR_004939548.1 RNA Sequence

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