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FLASH GENE
Symbol ABCD3 contributors: mct - updated : 23-05-2015
HGNC name ATP-binding cassette, sub-family D (ALD), member 3
HGNC id 67
Corresponding disease
ZWS2 Zellweger cerebrohepatorenal syndrome, variant type 1
Location 1p21.3      Physical location : 94.883.932 - 94.984.218
Synonym name
  • peroxisomal membrane protein 1, 70kD
  • peroxisomal membrane protein 1 (70kD, Zellweger syndrome)
  • Synonym symbol(s) PMP1, PMP70, PXMP1, ABC43, ABD3
    DNA
    TYPE like-sequence
    STRUCTURE 100.29 kb     23 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    text
  • two alternative messengers PEX19deltaE2 and deltaE8, leeding to considerable functional diversite
  • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    23 - 3616 - 659 - 2002 12176987
    9 - 967 - 236 - 2002 12176987
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately
    Digestiveliver   moderately
    Endocrinepancreas   moderately
    Reproductivemale systemtestis    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone   
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    ReproductiveSertoli cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text in all tissues
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal 80 AAs (N80)-segment preceding transmembrane segment (TM) 1, critical for suppressing the ER-targeting function to allow the TM1-TM2 region to localize to the peroxisome , and this N-terminal hydrophobic region is targeted to peroxisomes
  • one ATP binding domain
  • one transmembrane domain (1 TM, six segments)
  • mono polymer homomer , heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Abcd3
    Homologene
    FAMILY ATP binding cassette superfamily, subfamily D (ALD)
    CATEGORY signaling , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,peroxisome
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic
    text
  • associates with the Golgi Apparatus (localizing to the cytoplasmic face of the Golgi membranes)
  • becomes cytosolic only during mitosis
  • basic FUNCTION
  • half ABC transporter, traffic ATPase, involved in early steps of peroxisomal membrane synthesis
  • specific involvement of ABCD2 and ABCD3 in polyunsaturated fatty acids metabolism
  • having partial functional redundancy with ABCD1
  • could affect the clinical course of X-linked adrenoleukodystrophy
  • involved in the transport of long and branched chain acyl-CoA
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component homo- and heterodimerizing with other ATP binding cassette half-transporters
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PEX19 keeping ABCD3 as a proper conformation for the localization to peroxisome
  • interacting with ABCD1 for regulation of fatty acid transport into peroxisomes
  • interaction of ASPSCR1 with Golgi proteins, including ACBD3 (acyl-CoA binding domain-containing 3)
  • ACBD3 is capable of recruiting PI4KB to membranes , and membrane recruitment of PI4KB by ACBD3 increases its enzymatic activity
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ZWS2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS