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FLASH GENE
Symbol ABCD3 contributors: mct - updated : 23-05-2018
HGNC name ATP-binding cassette, sub-family D (ALD), member 3
HGNC id 67
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
  • suppression of oxidative stress could be involved in the INTS7/ABCD3 co-regulatory mechanisms for bone marrow mesenchymal stem cells (BM-MSCs) proliferation and differentiation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ZWS2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS