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FLASH GENE
Symbol GAN contributors: mct/npt - updated : 09-07-2009
HGNC name gigaxonin
HGNC id 4137
Corresponding disease
GAN giant axonal neuropathy
Location 16q23.2      Physical location : 81.348.570 - 81.413.801
Synonym name
  • giant axonal neuropathy (gigaxonin)
  • kelch-like protein 16
    • Synonym symbol(s) FLJ38059, GAN1, KLHL16
    DNA
    TYPE functioning gene
    STRUCTURE 65.23 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status provisional
    Map cen - GCSH - KIAA0431 - D16S3098 - D16S505 - qter
    Authors Bomont (00)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 4544 - 597 - Bomont (2000)
    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