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    SPAST spastin [ Bos taurus (cattle) ]

    Gene ID: 521442, updated on 2-May-2013
    Gene symbol
    SPAST
    Gene description
    spastin
    Locus tag
    BOS_11425
    See related
    Ensembl:ENSBTAG00000021694
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Bos taurus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Cetartiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
    Also known as
    SPG4
    Location :
    chromosome: 11
    Sequence :
    Chromosome: 11; AC_000168.1 (14714304..14769812)
    See SPAST in MapViewer

    Chromosome 11 - AC_000168.1Genomic Context describing neighboring genes Neighboring gene mediator of cell motility 1 Neighboring gene dpy-30 homolog (C. elegans) Neighboring gene solute carrier family 30 (zinc transporter), member 6 Neighboring gene uncharacterized LOC100847644 Neighboring gene NLR family, CARD domain containing 4

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene. Thomsen B, et al. Neurogenetics, 2010 May. PMID 19714378.
    2. A whole-genome assembly of the domestic cow, Bos taurus. Zimin AV, et al. Genome Biol, 2009. PMID 19393038.

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Results demonstrate a causal relationship between the SPAST mutation and bovine spinal dysmyelination.
      Title: Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene.
    2. A defective SPAST gene in cattle is associated with a recessive, congenital neurodegenerative disease, which is characterized by pathological changes of the myelin sheaths in the spinal cord.
      Title: Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene.
    Submit: New GeneRIF Correction

    Genotypes

    Homology

    Clone Names

    • MGC143109

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    alpha-tubulin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    beta-tubulin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    microtubule binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    microtubule-severing ATPase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    ER to Golgi vesicle-mediated transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    axonogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytokinesis, completion of separation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    microtubule bundle formation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    microtubule severing ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    positive regulation of microtubule depolymerization IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein hexamerization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    protein homooligomerization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    colocalizes_with endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    colocalizes_with endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    colocalizes_with microtubule cytoskeleton ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    colocalizes_with midbody ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    spindle IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    spastin
    Names
    spastin
    NP_001075060.1

    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_001081591.1 → NP_001075060.1  spastin

      Status: PROVISIONAL

      Source sequence(s)
      BC133327
      UniProtKB/Swiss-Prot
      A2VDN5
      Related
      ENSBTAP00000044166, ENSBTAT00000046919
      Conserved Domains (4) summary
      cd02679
      Location:114 – 193
      Blast Score: 256
      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 ...
      cd00009
      Location:343 – 506
      Blast Score: 248
      AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
      smart00382
      Location:372 – 508
      Blast Score: 192
      AAA; ATPases associated with a variety of cellular activities
      smart00745
      Location:114 – 191
      Blast Score: 167
      MIT; Microtubule Interacting and Trafficking molecule domain

    RefSeqs of Annotated Genomes: Build 6.1

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

    Reference Bos_taurus_UMD_3.1 Primary Assembly

    Genomic

    1. AC_000168.1 Reference Bos_taurus_UMD_3.1 Primary Assembly

      Range
      14714304..14769812
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate Btau_4.6.1

    Genomic

    1. NC_007309.5 Alternate Btau_4.6.1

      Range
      15427677..15482753
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    genomic AAFC03044312.1 None
    genomic AAFC03051127.1 (5140..5663) None
    genomic AAFC03051128.1 None
    genomic AAFC03051129.1 (19061..34959) None
    genomic DAAA02030438.1 None
    genomic DAAA02030439.1 (10893..50203) None
    genomic GJ062008.1 DAA24809.1 Hereford
    mRNA BC133327.1 AAI33328.1 L1 Hereford
    Protein Accession Links
    GenPept Link UniProtKB Link
    A2VDN5.1 GenPept UniProtKB/Swiss-Prot:A2VDN5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • BioProjects
        BioProjects related to a gene
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • Nucleotide
        Link to related Nucleotide entry
      • OMIA
        Related OMIA articles
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).

      Links to other resources

      General information

      Related sites

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