Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
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)
    Physical map
    LOC390742 16 similar to 40S ribosomal protein S3 MAF 16q22-q23 v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian) LOC339143 16q23.1 hypothetical LOC339143 LOC388300 16 LOC388300 DNCL2B 16q23.3 dynein, cytoplasmic, light polypeptide 2B CDYL2 16q23.2 chromodomain protein, Y-like 2 DC13 16q23.2 DC13 protein BM039 16q23.2 uncharacterized bone marrow protein BM039 KIAA0431 16q23.3 uncharacterized bone marrow protein BM039 FLJ32702 16q23.2 hypothetical protein FLJ32702 PKD1L2 16q23.2 polycystic kidney disease 1-like 2 BCDO1 16q21-q23 beta-carotene 15, 15'-dioxygenase GAN 16q24.1 giant axonal neuropathy (gigaxonin) CMIP 16q23 c-Maf-inducing protein FLJ14327 16q23.2 hypothetical protein FLJ14327 LOC388301 16 LOC388301 PLCG2 16q24.1 phospholipase C, gamma 2 (phosphatidylinositol-specific) HSPC105 16q23.2 NAD(P) dependent steroid dehydrogenase-like HSD17B2 16q24.1-q24.2 hydroxysteroid (17-beta) dehydrogenase 2 MPHOSPH6 16q23.1 M-phase phosphoprotein 6 CDH13 16q24.2 cadherin 13, H-cadherin (heart) HSBP1 16q23.3 heat shock factor binding protein 1 MLYCD 16q23-q24 malonyl-CoA decarboxylase OKL38 16q24.1 malonyl-CoA decarboxylase NECAB2 LOC146167 16q24.1 similar to hypothetical protein FLJ10815 MBTPS1 16q24 membrane-bound transcription factor protease, site 1 LOC390743 16 similar to Serine/Threonine protein kinase LOC83693 16q24.1 steroid dehydrogenase-like LOC123872 16q24.1 similar to RIKEN cDNA 4930457P18 TAF1C 16q24 TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa
    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