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FLASH GENE
Symbol SPG11 contributors: mct/shn - updated : 14-10-2014
HGNC name spastic paraplegia 11 (autosomal recessive)
HGNC id 11226
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • three LRR (leucine-rich) repeats
  • predicted to have secondary structures containing alpha-solenoids and an N-terminal beta-propeller-like domain
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    intracellular,nucleus
    text
  • localizes on a late endosomal/lysosomal compartments
  • intense staining in peripheral portions and occasionally in the central cores of brain from patients with Parkinson's diseasedementia with Lewy bodies
  • present in glial cytoplasmic inclusionsand a small fraction of neuronal cytoplasmic inclusions of brain from patients with multiple system atrophy
  • basic FUNCTION
  • important for proper development of the axons of spinal motor neurons
  • may be involved in the pathogenesis of alpha-synucleinopathies
  • a component of brain Lewy bodies and glial cytoplasmic inclusions
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • KIAA0415
  • AP-5 subunits
  • alpha-synuclein
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPG11 , CMT2X , ALS5
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • SPG11 knock-down in zebrafish by morpholino antisense oligonucleotides lead to locomotor impairment and abnormal branching of spinal cord motor neurons at the neuromuscular junction
  • SPG11 knockdown causeS the cation-independent mannose 6-phosphate receptor to become trapped in clusters of early endosomes of HeLa cells