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Description for Protein SPAST

spastin
2 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. The encoded ATPase may be involved in the assembly or function of nuclear protein complexes. Two transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their full length sequences have not been determined. Mutations associated with this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • AAA: ATPases associated with a variety of cellular activities
  • LZ: Leucine Zipper
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.6.4.3
    KEGG - Orthology:
    K13254
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    SPG4; KIAA1083; FSP2; ADPSP; Spastic paraplegia 4; Spastin isoform 2; Spastin isoform 1
    Approved Symbol:
    SPAST
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 21
    Human (de-) phosphorylation sites: 21; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Spastic paraplegia 4(Pd);
  • Spastic paraplegia 4, modifier of(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 1
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 05044 Entrez Gene ID: 6683 OMIM ID: 604277 Swissprot Accession: Q9UBP0;