Property Summary

NCBI Gene PubMed Count 46
PubMed Score 63.96
PubTator Score 60.42

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (25)

Disease log2 FC p
gastric cancer 1.100 3.8e-04
Waldenstrons macroglobulinemia 1.182 5.8e-03
astrocytic glioma 1.500 1.5e-02
ependymoma 1.700 3.6e-03
oligodendroglioma 1.100 3.0e-02
osteosarcoma 2.371 1.6e-03
glioblastoma 2.500 2.2e-04
atypical teratoid / rhabdoid tumor 2.300 2.3e-05
medulloblastoma 1.800 1.1e-03
medulloblastoma, large-cell 2.600 3.7e-05
pancreatic ductal adenocarcinoma liver m... -1.621 1.4e-02
intraductal papillary-mucinous adenoma (... 1.200 1.5e-02
Breast cancer 4.100 2.2e-02
interstitial cystitis -1.100 1.7e-03
pediatric high grade glioma 1.800 1.4e-03
aldosterone-producing adenoma -1.272 2.6e-02
psoriasis 2.100 2.7e-10
breast carcinoma 1.100 9.1e-12
Alzheimer's disease -1.200 3.7e-02
Pick disease -1.100 2.0e-03
progressive supranuclear palsy -1.200 1.7e-02
invasive ductal carcinoma 1.700 8.1e-03
ulcerative colitis -1.800 3.3e-06
ovarian cancer -1.200 9.1e-05
dermatomyositis 1.400 2.5e-04

Protein-protein Interaction (1)

Gene RIF (19)

PMID Text
25802834 Increased ABCD3 expression correlates with Gleason Score.
25168382 Deficiency of peroxisomal ABCD3 resulted in bile acid biosynthesis defect.
24333844 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
22190034 HIV-1 Vpr is identified to have a physical interaction with ATP-binding cassette, sub-family D (ALD), member 3 (ABCD3) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses
20877624 Observational study of gene-disease association. (HuGE Navigator)
20661612 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20007743 investigation of organelle-targeting properties of N-terminal portions of peroxisomal PMP70; amino acid sequence and domain structure of human form discussed
19913121 Observational study of gene-disease association. (HuGE Navigator)
19343046 Observational study of gene-disease association. (HuGE Navigator)
18660489 Observational study of gene-disease association. (HuGE Navigator)
17602313 Testosterone metabolites did not alter expression of ABCD3 mRNA in fibroblasts from X-linked adrenoleukodystrophy patients.
16344115 Pex19p binds to PMP70 co-translationally and keeps PMP70 in a proper conformation for the localization to peroxisome.
11883941 MP70 interacts with PEX19 splice variants PEX19-delta-E2 and PEX19p-delta-E8.
10777694 MP70 (ABCD3) interacts with both farnesylated wild-type and farnesylation-deficient mutant PEX19.
10551832 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.
10551832 PMP70 (ABCD3) homodimerizes via the carboxy terminal half [338-659].
10551832 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.

AA Sequence

MAAFSKYLTARNSSLAGAAFLLLCLLHKRRRALGLHGKKSGKPPLQNNEKEGKKERAVVDKVFFSRLIQI      1 - 70
LKIMVPRTFCKETGYLVLIAVMLVSRTYCDVWMIQNGTLIESGIIGRSRKDFKRYLLNFIAAMPLISLVN     71 - 140
NFLKYGLNELKLCFRVRLTKYLYEEYLQAFTYYKMGNLDNRIANPDQLLTQDVEKFCNSVVDLYSNLSKP    141 - 210
FLDIVLYIFKLTSAIGAQGPASMMAYLVVSGLFLTRLRRPIGKMTITEQKYEGEYRYVNSRLITNSEEIA    211 - 280
FYNGNKREKQTVHSVFRKLVEHLHNFILFRFSMGFIDSIIAKYLATVVGYLVVSRPFLDLSHPRHLKSTH    281 - 350
SELLEDYYQSGRMLLRMSQALGRIVLAGREMTRLAGFTARITELMQVLKDLNHGKYERTMVSQQEKGIEG    351 - 420
VQVIPLIPGAGEIIIADNIIKFDHVPLATPNGDVLIRDLNFEVRSGANVLICGPNGCGKSSLFRVLGELW    421 - 490
PLFGGRLTKPERGKLFYVPQRPYMTLGTLRDQVIYPDGREDQKRKGISDLVLKEYLDNVQLGHILEREGG    491 - 560
WDSVQDWMDVLSGGEKQRMAMARLFYHKPQFAILDECTSAVSVDVEGYIYSHCRKVGITLFTVSHRKSLW    561 - 630
KHHEYYLHMDGRGNYEFKQITEDTVEFGS                                             631 - 659
//

Text Mined References (52)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25802834 2015 Immunohistological analysis of ABCD3 expression in Caucasian and African American prostate tumors.
25168382 2015 A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3.
24333844 2014 A role for the human peroxisomal half-transporter ABCD3 in the oxidation of dicarboxylic acids.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
21525035 2011 PEX14 is required for microtubule-based peroxisome motility in human cells.
21269460 2011 Initial characterization of the human central proteome.
21102411 2010 Structural basis for docking of peroxisomal membrane protein carrier Pex19p onto its receptor Pex3p.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20661612 2011 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.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20007743 2010 Multiple organelle-targeting signals in the N-terminal portion of peroxisomal membrane protein PMP70.
19946888 2010 Defining the membrane proteome of NK cells.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19479899 2009 Pex3p-dependent peroxisomal biogenesis initiates in the endoplasmic reticulum of human fibroblasts.
19343046 2009 Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
18660489 2008 Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17609205 2007 Live cell FRET microscopy: homo- and heterodimerization of two human peroxisomal ABC transporters, the adrenoleukodystrophy protein (ALDP, ABCD1) and PMP70 (ABCD3).
17602313 2007 Effect of testosterone metabolites on ABC half-transporter relative gene expression in X-linked adrenoleukodystrophy.
17542813 2007 Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16344115 2005 Role of Pex19p in the targeting of PMP70 to peroxisome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14709540 2004 PEX19 is a predominantly cytosolic chaperone and import receptor for class 1 peroxisomal membrane proteins.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12176987 2002 ATP binding/hydrolysis by and phosphorylation of peroxisomal ATP-binding cassette proteins PMP70 (ABCD3) and adrenoleukodystrophy protein (ABCD1).
11883941 2002 Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly.
11590176 2002 Two different targeting signals direct human peroxisomal membrane protein 22 to peroxisomes.
11453642 2001 Targeting elements in the amino-terminal part direct the human 70-kDa peroxisomal integral membrane protein (PMP70) to peroxisomes.
11248239 2001 Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters.
10777694 2000 Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p.
10704444 2000 PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis.
10551832 1999 Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.
10447258 1999 Identification of a common PEX1 mutation in Zellweger syndrome.
9922452 1999 Peroxisome synthesis in the absence of preexisting peroxisomes.
9765053 1998 Restoration of PEX2 peroxisome assembly defects by overexpression of PMP70.
9521874 1998 Genomic organization of the 70-kDa peroxisomal membrane protein gene (PXMP1).
9425230 1998 Suppression of peroxisomal membrane protein defects by peroxisomal ATP binding cassette (ABC) proteins.
9199576 1997 Absence of mutations raises doubts about the role of the 70-kD peroxisomal membrane protein in Zellweger syndrome.
9126326 1997 Adrenoleukodystrophy protein-deficient mice represent abnormality of very long chain fatty acid metabolism.
8726233 1996 Correction by gene expression of biochemical abnormalities in fibroblasts from Zellweger patients.
8453064 1993 The 70 kDa peroxisomal membrane protein: an ATP-binding cassette transporter protein involved in peroxisome biogenesis.
8449508 1993 Localization of the 70-kDa peroxisomal membrane protein to human 1p21-p22 and mouse 3.
1536884 1992 Nucleotide sequence of the human 70 kDa peroxisomal membrane protein: a member of ATP-binding cassette transporters.
1301993 1992 Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome.
1301179 1992 A polymorphic synonymous mutation (K54K) in the human 70 kD peroxisomal membrane protein gene (PMP1).