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FLASH GENE
Symbol GDAP1 contributors: mct - updated : 30-08-2013
HGNC name ganglioside-induced differentiation-associated protein 1
HGNC id 15968
Corresponding disease
CMT2K Charcot-Marie-Tooth disease, axonal, type 2K
CMT4A Charcot-Marie-Tooth disease, type 4A
Location 8q21.11      Physical location : 75.262.617 - 75.279.333
Synonym symbol(s) CMTRIA, CMT2K5
DNA
TYPE functioning gene
STRUCTURE 16.72 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
cytosine-phosphate-guanine/HTF
Binding site
text structure
  • promoter region appeared as a TATA-less, GC-rich region without canonical transcription initiation site
  • consensus YY1 binding site in the GDAP1 core promoter
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 3899 - 358 - 2009 19720140
    6 - 3734 - 290 - 2009 19720140
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly Homo sapiens
    Nervousbrain   highly Homo sapiens
     gangliasensory gangliadorsal root highly Homo sapiens
     spinal cordanterior horn  highly Homo sapiens
     spinal cordposterior horn  highly Homo sapiens
    Reproductivefemale systemovary  highly Homo sapiens
    Respiratoryrespiratory tractlarynx  highly Homo sapiens
    Urinarykidney   highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousmitral cell Homo sapiens
    Nervousneuron Homo sapiens
    NervousPurkinje cell Homo sapiens
    Nervouspyramidal cell Homo sapiens
    NervousSchwann cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • glutathione S-transferase N terminal domain
  • transmembrane domains necessary for the localization in mitochondria
  • two putative transmembrane domains
  • GST-like domain, glutathione S-transferase C terminal domain
  • secondary structure alpha helical domain 2
    HOMOLOGY
    interspecies homolog to murine Gdap1
    Homologene
    FAMILY
  • GST superfamily
  • CATEGORY signaling
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,outer
    intracellular,cytoplasm,organelle,membrane
    text
  • located in the outer mitochondrial membrane and induces fragmentation of mitochondria
  • basic FUNCTION
  • may be functioning in a signal transduction pathway responsible for ganglioside-induced neurite
  • differentiation
  • may be related to the maintenance of the mitochondrial network
  • may have a role in the fission pathway of the mitochondrial dynamics
  • mitochondrial fission factor whose activity is dependent on the fission factors CRMP1 and FIS1
  • promotes fission without increasing the risk of apoptosis
  • essential for the viability of cells in the peripheral nervous system
  • novel function of GDAP1 in the defense against oxidative stress
  • might act as a glutathione sensor, which transmits information about the cytosolic glutathione content through its GST-like domains to the mitochondria, leading to changes in mitochondrial form and function
  • tail-anchored protein of mitochondria and induces mitochondrial fragmentation
  • regulates mitochondrial and peroxisomal fission by a similar mechanism
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text neuronal development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with YY1 (YY1 acts to induce GDAP1 gene expression, decreasing YY1 levels should repress it)
  • interacts with the vesicle-organelle trafficking proteins RAB6B, suggesting that GDAP1 may participate in the mitochondrial movement within the cell
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMT4A , CMT2K
    related resource Mutation Database of Inherited Peripheral Neuropathies
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS