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    ABCD3 ATP binding cassette subfamily D member 3 [ Homo sapiens (human) ]

    Gene ID: 5825, updated on 3-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Peroxisomal ABC Transporters: An Update.

    Peroxisomal ABC Transporters: An Update.
    Tawbeh A, Gondcaille C, Trompier D, Savary S., Free PMC Article

    07/17/2021
    In HEK293 cells, the D-bifunctional protein (HSD17B4) and the peroxisomal ABC transporter ABCD3 are essential in peroxisomal oxidation of lauric and palmitic acid.

    Peroxisomes can oxidize medium- and long-chain fatty acids through a pathway involving ABCD3 and HSD17B4.
    Violante S, Achetib N, van Roermund CWT, Hagen J, Dodatko T, Vaz FM, Waterham HR, Chen H, Baes M, Yu C, Argmann CA, Houten SM., Free PMC Article

    05/16/2020
    ABCD1 and ABCD2 are involved in the transport of long and very long chain fatty acids (VLCFA) or their CoA-derivatives into peroxisomes with different substrate specificities, while ABCD3 is involved in the transport of branched chain acyl-CoA into peroxisomes.ABCD4 is deduced to take part in the transport of vitamin B12 from lysosomes into the cytosol.

    ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human Disease.
    Kawaguchi K, Morita M., Free PMC Article

    02/18/2017
    Data show that ACBD3 can recruit PI4KB to model membranes as well as redirect PI4KB to cellular membranes where it is not naturally found. Also, results show that ACBD3 regulates the enzymatic activity of PI4KB kinase through membrane recruitment rather than allostery.

    Structural insights and in vitro reconstitution of membrane targeting and activation of human PI4KB by the ACBD3 protein.
    Klima M, Tóth DJ, Hexnerova R, Baumlova A, Chalupska D, Tykvart J, Rezabkova L, Sengupta N, Man P, Dubankova A, Humpolickova J, Nencka R, Veverka V, Balla T, Boura E., Free PMC Article

    02/4/2017
    The N-terminal motif of PMP70 suppresses cotranslational targeting to the endoplasmic reticulum.

    The N-terminal motif of PMP70 suppresses cotranslational targeting to the endoplasmic reticulum.
    Sakaue H, Iwashita S, Yamashita Y, Kida Y, Sakaguchi M.

    02/4/2017
    Increased ABCD3 expression correlates with Gleason Score.

    Immunohistological analysis of ABCD3 expression in Caucasian and African American prostate tumors.
    Reams RR, Jones-Triche J, Chan OT, Hernandez BY, Soliman KF, Yates C., Free PMC Article

    01/16/2016
    Deficiency of peroxisomal ABCD3 resulted in bile acid biosynthesis defect.

    A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3.
    Ferdinandusse S, Jimenez-Sanchez G, Koster J, Denis S, Van Roermund CW, Silva-Zolezzi I, Moser AB, Visser WF, Gulluoglu M, Durmaz O, Demirkol M, Waterham HR, Gökcay G, Wanders RJ, Valle D.

    09/26/2015
    We postulate a role for human ABCD3 in the oxidation of dicarboxylic acids and a role in buffering fatty acids that are overflowing from the mitochondrial beta-oxidation system

    A role for the human peroxisomal half-transporter ABCD3 in the oxidation of dicarboxylic acids.
    van Roermund CW, Ijlst L, Wagemans T, Wanders RJ, Waterham HR.

    05/31/2014
    Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)

    Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article

    09/15/2010
    investigation of organelle-targeting properties of N-terminal portions of peroxisomal PMP70; amino acid sequence and domain structure of human form discussed

    Multiple organelle-targeting signals in the N-terminal portion of peroxisomal membrane protein PMP70.
    Iwashita S, Tsuchida M, Tsukuda M, Yamashita Y, Emi Y, Kida Y, Komori M, Kashiwayama Y, Imanaka T, Sakaguchi M.

    07/19/2010
    Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

    Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article

    06/30/2010
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (5) articles

    Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ.

    Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes.
    Matsukawa T, Asheuer M, Takahashi Y, Goto J, Suzuki Y, Shimozawa N, Takano H, Onodera O, Nishizawa M, Aubourg P, Tsuji S.

    Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium.

    Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
    Saito A, Kawamoto M, Kamatani N.

    Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
    Lu Y, Dollé ME, Imholz S, van 't Slot R, Verschuren WM, Wijmenga C, Feskens EJ, Boer JM.

    09/24/2008
    Testosterone metabolites did not alter expression of ABCD3 mRNA in fibroblasts from X-linked adrenoleukodystrophy patients.

    Effect of testosterone metabolites on ABC half-transporter relative gene expression in X-linked adrenoleukodystrophy.
    Petroni A, Cappa M, Carissimi R, Blasevich M, Uziel G.

    01/21/2010
    Pex19p binds to PMP70 co-translationally and keeps PMP70 in a proper conformation for the localization to peroxisome.

    Role of Pex19p in the targeting of PMP70 to peroxisome.
    Kashiwayama Y, Asahina K, Shibata H, Morita M, Muntau AC, Roscher AA, Wanders RJ, Shimozawa N, Sakaguchi M, Kato H, Imanaka T.

    01/21/2010
    ALDRP interacts with PMP70. This interaction occurs via the ALDRP C-terminus [374-740] and the PMP70 C-terminus [338-659]. This interaction was demonstrated using human PMP70 and mouse ALDRP.

    Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.
    Liu LX, Janvier K, Berteaux-Lecellier V, Cartier N, Benarous R, Aubourg P, Liu LX, Janvier K, Berteaux-Lecellier V, Cartier N, Benarous R, Aubourg P, Liu LX, Janvier K, Berteaux-Lecellier V, Cartier N, Benarous R, Aubourg P.

    06/20/2003
    PMP70 (ABCD3) homodimerizes via the carboxy terminal half [338-659].

    Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.
    Liu LX, Janvier K, Berteaux-Lecellier V, Cartier N, Benarous R, Aubourg P, Liu LX, Janvier K, Berteaux-Lecellier V, Cartier N, Benarous R, Aubourg P, Liu LX, Janvier K, Berteaux-Lecellier V, Cartier N, Benarous R, Aubourg P.

    06/19/2003
    ALDP interacts with PMP70. This interaction occurs via the C-terminus of ALDP [361-745] and the C-terminus of PMP70 [338-659]. ALDP mutations P484R and R591Q abolish the interaction.

    Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.
    Liu LX, Janvier K, Berteaux-Lecellier V, Cartier N, Benarous R, Aubourg P, Liu LX, Janvier K, Berteaux-Lecellier V, Cartier N, Benarous R, Aubourg P, Liu LX, Janvier K, Berteaux-Lecellier V, Cartier N, Benarous R, Aubourg P.

    06/19/2003
    MP70 interacts with PEX19 splice variants PEX19-delta-E2 and PEX19p-delta-E8.

    Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly.
    Mayerhofer PU, Kattenfeld T, Roscher AA, Muntau AC.

    06/21/2003
    MP70 (ABCD3) interacts with both farnesylated wild-type and farnesylation-deficient mutant PEX19.

    Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p.
    Gloeckner CJ, Mayerhofer PU, Landgraf P, Muntau AC, Holzinger A, Gerber JK, Kammerer S, Adamski J, Roscher AA.

    06/20/2003
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