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Description for Protein SPG7

spastic paraplegia 7 (pure and complicated autosomal recessive)
6 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a nuclear-encoded mitochondrial metalloprotease protein that is 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. Two transcript variants encoding distinct isoforms have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 7. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • TM: Transmembrane domain
  • CC: Coiled Coil
  • AAA: ATPases associated with a variety of cellular activities
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.4.24.-
    KEGG - Orthology:
    K09552
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Spastic paraplegia 7 gene; PGN; Cell matrix adhesion regulator; CMAR; Cell adhesion regulator; CAR; Spastic paraplegia protein 7; Paraplegin isoform 2; Paraplegin isoform 1
    Approved Symbol:
    SPG7
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; 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 7, autosomal recessive(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 2
  • Isoform 1 : 2
    • Additional Identifiers:

    HPRD: 04149 Entrez Gene ID: 6687 OMIM ID: 602783 Swissprot Accession: Q9UQ90;