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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
Corresponding disease
SPG7 spastic paraplegia 7
Location 16q24.3      Physical location : 89.574.804 - 89.624.173
Synonym name
  • cell adhesion regulator
  • cell matrix adhesion regulator
  • paraplegin
    • Synonym symbol(s) FLJ37308, PGN, CAR, CMAR, SPG5C, MGC126331, MGC126332
    EC.number 3.4.24.-
    DNA
    TYPE functioning gene
    STRUCTURE 49.39 kb     17 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Text CMAR cDNA with a 5'region highly homolog to the 5'utr of murine variant in kinase (vik)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 3076 - 795 - 1999 10480368
    10 - 2296 - 489 - 1999 10480368
    18 - 3301 - 809 - 1999 10480368
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary  highly
    Nervousbraindiencephalonamygdala  
     brainbasal nucleicaudate nucleus  
     braindiencephalonthalamus  
     nerve   highly
     spinal cord    
    Reproductivefemale systemovary  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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