Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol SPG7 contributors: mct/npt - updated : 10-10-2009
HGNC name spastic paraplegia 7, paraplegin (pure and complicated autosomal recessive)
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) PGN, CAR, CMAR, SPG5C, MGC126331, MGC126332
    EC.number 3.4.24.-
    DNA
    TYPE functioning gene
    STRUCTURE 49.37 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)
    Physical map
    LOC197322 16q24.3 hypothetical protein LOC197322 FLJ36701 16q24.3 hypothetical protein FLJ36701 CDH15 16q24.3 cadherin 15, M-cadherin (myotubule) LOC388308 16 similar to Brain-type organic cation transporter FLJ31875 16q24.3 hypothetical protein FLJ31875 ANKRD11 16q24.3 ankyrin repeat domain 16 LOC390750 16 similar to Hypothetical protein CBG22662 LOC390751 16 LOC390751 SPG7 16q24.3 spastic paraplegia 7, paraplegin (pure and complicated autosomal recessive) RPL13 16q24.3 ribosomal protein L13 CPNE7 16q24.3 copine VII DPEP1 16q24.3 dipeptidase 1 (renal) PCOLN3 16q24.3 procollagen (type III) N-endopeptidase FLJ31606 16q24.3 hypothetical protein FLJ31606 LOC388309 16 LOC388309 CDK10 16q24.3 cyclin-dependent kinase (CDC2-like) 10 MGC26885 16q24.3 hypothetical protein MGC26885 C16orf7 16q24 chromosome 16 open reading frame 7 ZFP276 16q24.3 zinc finger protein 276 homolog (mouse) FANCA 16q24.3 Fanconi anemia, complementation group A LOC197317 16q24.3 hypothetical LOC197317 Spir-2 16q24 Spir-2 protein KIAA1049 16q24.3 Spir-2 protein FLJ12547 16q24.3 hypothetical protein FLJ12547 MC1R 16q24.3 melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) TUBB4 16q24.3 tubulin, beta, 4
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 3096 - 795 - Brugman (2008)
    10 - 2319 - 489 - Brugman (2008)
    EXPRESSION
    Type widely
    constitutive of
       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)
  • 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
    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