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Description for Protein ASPM

asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
4 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. (PubMed Links)
Domains and Motifs:
  • CH: Calponin homology domain
  • IQ: Short calmodulin-binding motif containing conserved Ile and Gln residues.
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    MCPH5; ASP; Microcephaly, primary autosomal recessive 5; Asp abnormal spindle like microcephaly associated
    Approved Symbol:
    ASPM
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 51
    Human (de-) phosphorylation sites: 51; 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:

  • Microcephaly, primary autosomal recessive, 5(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 08384 Entrez Gene ID: 259266 OMIM ID: 605481 Swissprot Accession: Q8IZT6; B3KWI2;