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FLASH GENE
Symbol SPG7 contributors: mct/npt - updated : 09-04-2020
HGNC name SPG7 matrix AAA peptidase subunit, paraplegin
HGNC id 11237
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies homolog to yeast AFG3 (of the AAA family adenosine triphosphatases associated with diverse activities)
homolog to to murine variant in kinase (vik)
Homologene
FAMILY
  • peptidase family M41
    • CATEGORY adhesion , chaperone/stress , enzyme , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • nuclear-encoded mitochondrial metalloprotease
  • potentially involved in the turnover of mitochondrial proteins
  • cell matrix adhesion regulator influencing cell adhesion to collagen
  • important role of the homo-oligomeric AFG3L2 m-AAA complex in neuronal degeneration (Martinelli 2009)
  • SPG7 assembles with AFG3L2 into the mAAA protease at the inner membrane of mitochondria, degrades damaged proteins, and regulates the synthesis of mitochondrial ribosomes
  • is an essential and conserved component of the mitochondrial permeability transition pore
  • does not constitute a core component of the mitochondrial permeability transition pore (mPTP) but can modulate mPTP through regulation of the basal mitochondrial Ca2+ concentration
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text neuronal development
    PATHWAY
    metabolism
    signaling
    a component
  • component of the m-AAA protease, a high molecular weight complex in the inner mitochondrial membrane evolutionary conserved from yeast to mammals (exists in a hetero-oligomeric form, composed of paraplegin and AFG3L2)(Martinelli 2009)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with MRPL32 for importing of MRPL32 into mitochondria
    • cell & other
    REGULATION
    Other
  • SPG7 is cleaved and activated by AFG3L2 upon assembly
    • ASSOCIATED DISORDERS
    corresponding disease(s) SPG7
    related resource MITOP database
    Susceptibility to sporadic spastic paraparesis
    Variant & Polymorphism other mutations are a frequent cause of sporadic spastic paraparesis (Brugman 2008)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Drosophila Spg7 mutants exhibited shortened lifespan, progressive locomotor defects, sensitivity to chemical and environmental stress, and muscular and neuronal degeneration
  • mouse model of Spg7-linked hereditary spastic paraplegia is an isoform-specific knock-out, in which mitochondrial paraplegin is specifically ablated, while expression of paraplegin-2 is retained