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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
Corresponding disease
ALS5 familial amyotrophic lateral sclerosis 5
CMT2X Charcot-Marie-Tooth disease, axonal, type 2X
SPG11 spastic paraplegia 11
Location 15q21.1      Physical location : 44.854.894 - 44.955.876
Synonym name
  • spatacsin
  • colorectal carcinoma-associated protein
  • spastic paraplegia 11 protein
    • Synonym symbol(s) FLJ21439, KIAA1840, SPATACSIN, DKFZp762B1512
    DNA
    TYPE functioning gene
    STRUCTURE 100.98 kb     40 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    40 - 7817 - 2443 - - 18408091
    38 - 7478 - 2330 - -
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivepharynx   highly
    Endocrineadrenal gland   highly
     thyroid   highly
    Nervousbrainhindbraincerebellum  
     brainlimbic systemhippocampus  
     brainforebraincerebral cortex  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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