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FLASH GENE
Symbol ABCD1 contributors: mct/npt - updated : 19-10-2014
HGNC name ATP-binding cassette, sub-family D (ALD), member 1
HGNC id 61
PROTEIN
PHYSICAL PROPERTIES Hydrophilic
STRUCTURE
motifs/domains
  • N-terminal hydrophobic region and is targeted to peroxisomes
  • one hydrophilic ATP binding domain
  • one ABC transmembrane domain type 1(6 segments)
  • PEX19-binding sites
    • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Abcd1
    Homologene
    FAMILY
  • ABC transporter superfamily
  • ABCD family
  • peroxisomal fatty acyl CoA transporter subfamily
    • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,peroxisome
    intracellular,cytoplasm,cytosolic
    text region between transmembrane domain 2 and 3 is important for the targeting of ABCD1 to the peroxisome (Takahashi 2007)
    basic FUNCTION
  • dysplaying overlapping functions with 3 other ABC proteins (PMP70, ABCD2, P70R)
  • half ABC transporter, traffic ATPase, enhancing the association of very long chain acyl-CoA synthethase with the peroxisome and involved in metabolic transport of long and very long chain fatty acids (VLCFA) into peroxisomes
  • likely involved in the peroxisomal transport or catabolism of very long chain fatty acids
  • having partial functional redundancy with ABCD3
  • required for fatty acid transport across the peroxisomal membrane
  • ABCD1-independent peroxisomal and mitochondrial beta-oxidation pathways significantly contribute to VLCFA beta-oxidation in astrocytic cells
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • can form homo- and heterodimers with ABCD2/ALDR and ABCD3/PMP70 ( dimerization is necessary to form an active transporter)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with ABCD3 for regulation of fatty acid transport into peroxisomes
  • interacts with PEX19
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ALD , DDCH
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    enhances metabolic distress in oligodendrocytes that are compromised a priori by destabilised myelin (Dumser 2007)
    tumoral     --low  
    in human renal cell carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • ALDP-deficient mice replicate metabolic dysfunctions and develop late-onset axonopathy but lack histological signs of cerebral inflammation and demyelination (Dumser 2007)