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FLASH GENE
Symbol GAN contributors: mct/npt - updated : 09-07-2009
HGNC name gigaxonin
HGNC id 4137
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveesophagus   highly
Nervousbrain    
Reproductivefemale systembreastmammary gland highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal BTB/POZ domain (broad complex, tramtrack and bric a brac) domain
  • six kelch repeats which are predicted to adopt a beta-propeller shape
    • HOMOLOGY
    Homologene
    FAMILY
  • BTB/Kelch family
    • CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microfilament
    basic FUNCTION
  • putative link between actin and intermediate filaments
  • playing a role in neurofilament architecture
  • controls protein degradation, and is essential for neuronal function and survival
  • ubiquitin scaffolding protein that controls MAP1B-LC degradation
  • play an important role in cytoskeletal functions and dynamics by directing ubiquitin-mediated degradations of cytoskeletal proteins (Yang 2007)
  • playing an an essential role in neuronal maintenance (Cleveland 2009)
  • controls vimentin organization through a tubulin chaperone-independent pathway (Cleveland 2009)
    • CELLULAR PROCESS protein, degradation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • substrate adaptor for an E3 ubiquitin ligase, which affects proteasome-dependent degradation of microtubule-related proteins including MAP1B, MAP8 and the tubulin folding chaperone TBCB (Cleveland 2009)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GAN
    related resource Mutation Database of Inherited Peripheral Neuropathies
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS