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Aliases for ABCD3 Gene

Aliases for ABCD3 Gene

  • ATP-Binding Cassette, Sub-Family D (ALD), Member 3 2 3
  • PXMP1 3 4 6
  • PMP70 3 4 6
  • 70 KDa Peroxisomal Membrane Protein 3 4
  • DJ824O18.1 (ATP-Binding Cassette, Sub-Family D (ALD), Member 3 (PMP70, PXMP1)) 3
  • Peroxisomal Membrane Protein 1 (70kD, Zellweger Syndrome) 3
  • ATP-Binding Cassette Sub-Family D Member 3 3
  • Peroxisomal Membrane Protein-1 (70kD) 3
  • ABC43 3
  • CBAS5 3
  • ZWS2 3

External Ids for ABCD3 Gene

Previous HGNC Symbols for ABCD3 Gene

  • PXMP1

Previous GeneCards Identifiers for ABCD3 Gene

  • GC01P095285
  • GC01P094089
  • GC01P094234
  • GC01P094596
  • GC01P094656
  • GC01P094883
  • GC01P093005

Summaries for ABCD3 Gene

Entrez Gene Summary for ABCD3 Gene

  • The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for ABCD3 Gene

ABCD3 (ATP-Binding Cassette, Sub-Family D (ALD), Member 3) is a Protein Coding gene. Diseases associated with ABCD3 include zellweger syndrome and peroxisomal disease. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Peroxisome. GO annotations related to this gene include protein homodimerization activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCD1.

UniProtKB/Swiss-Prot for ABCD3 Gene

  • Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity.

Gene Wiki entry for ABCD3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCD3 Gene

Genomics for ABCD3 Gene

Regulatory Elements for ABCD3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ABCD3 Gene

94,418,377 bp from pter
94,518,666 bp from pter
100,290 bases
Plus strand

Genomic View for ABCD3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ABCD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCD3 Gene

Proteins for ABCD3 Gene

  • Protein details for ABCD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    ATP-binding cassette sub-family D member 3
    Protein Accession:
    Secondary Accessions:
    • D3DT46
    • Q15271
    • Q6NUN5
    • Q96DA3
    • Q9H529

    Protein attributes for ABCD3 Gene

    659 amino acids
    Molecular mass:
    75476 Da
    Quaternary structure:
    • Can form heterodimers with ABCD1/ALD and ABCD2/ALDR. Dimerization is necessary to form an active transporter. Interacts with PEX19.
    • Mutation in ABCD3 have been found in two individuals affected by Zellweger syndrome. However, the role of ABCD3 in the causation of Zellweger syndrome remains uncertain

    Alternative splice isoforms for ABCD3 Gene


neXtProt entry for ABCD3 Gene

Proteomics data for ABCD3 Gene at MOPED

Post-translational modifications for ABCD3 Gene

  • Ubiquitination at Lys6, Lys260, Lys286, Lys347, Lys479, and Lys576
  • Glycosylation at Asn12, Asn106, and Asn206
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCD3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for ABCD3 Gene

Domains for ABCD3 Gene

Gene Families for ABCD3 Gene

  • ABCD :ATP binding cassette transporters / subfamily D

Suggested Antigen Peptide Sequences for ABCD3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • P28288
  • Contains 1 ABC transmembrane type-1 domain.
  • Contains 1 ABC transporter domain.
  • Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily.
genes like me logo Genes that share domains with ABCD3: view

Function for ABCD3 Gene

Molecular function for ABCD3 Gene

GENATLAS Biochemistry:
ATP binding cassette superfamily,subfamily D (ALD),member 3,peroxisomal membrane protein,involved in the peroxisomal import of fatty acid or fatty acyl coA,see ZWS2
UniProtKB/Swiss-Prot Function:
Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity.

Gene Ontology (GO) - Molecular Function for ABCD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10551832
GO:0005524 ATP binding IDA 11248239
GO:0016887 ATPase activity IDA 11248239
GO:0042626 ATPase activity, coupled to transmembrane movement of substances IEA --
GO:0042803 protein homodimerization activity IDA 17609205
genes like me logo Genes that share ontologies with ABCD3: view

Phenotypes for ABCD3 Gene

GenomeRNAi human phenotypes for ABCD3:
genes like me logo Genes that share phenotypes with ABCD3: view

Animal Model Products

miRNA for ABCD3 Gene

miRTarBase miRNAs that target ABCD3

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for ABCD3 Gene

Localization for ABCD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCD3 Gene

Peroxisome membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for ABCD3 Gene COMPARTMENTS Subcellular localization image for ABCD3 gene
Compartment Confidence
peroxisome 5
cytosol 4
mitochondrion 2
extracellular 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ABCD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005777 peroxisome IDA 10704444
GO:0005778 peroxisomal membrane TAS --
GO:0005782 peroxisomal matrix IDA 9765053
genes like me logo Genes that share ontologies with ABCD3: view

Pathways for ABCD3 Gene

genes like me logo Genes that share pathways with ABCD3: view

Pathways by source for ABCD3 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for ABCD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0006635 fatty acid beta-oxidation IGI 9425230
GO:0006810 transport --
GO:0007031 peroxisome organization IMP 9765053
GO:0042760 very long-chain fatty acid catabolic process IGI 9425230
genes like me logo Genes that share ontologies with ABCD3: view

Compounds for ABCD3 Gene

(4) Novoseek inferred chemical compound relationships for ABCD3 Gene

Compound -log(P) Hits PubMed IDs
acyl-coa 70 6
fatty acid 44 3
lipid 7.14 1
atp 0 2
genes like me logo Genes that share compounds with ABCD3: view

Transcripts for ABCD3 Gene

Unigene Clusters for ABCD3 Gene

ATP-binding cassette, sub-family D (ALD), member 3:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ABCD3

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABCD3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22
SP1: - -
SP2: - - - - - -
SP3: -

Relevant External Links for ABCD3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ABCD3 Gene

mRNA expression in normal human tissues for ABCD3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for ABCD3 Gene

This gene is overexpressed in Nasal epithelium (51.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ABCD3 Gene

SOURCE GeneReport for Unigene cluster for ABCD3 Gene Hs.700576

genes like me logo Genes that share expressions with ABCD3: view

Expression partners for ABCD3 Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ABCD3 Gene

Orthologs for ABCD3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCD3 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia ABCD3 35
  • 92.48 (n)
  • 94.82 (a)
ABCD3 36
  • 95 (a)
(Canis familiaris)
Mammalia ABCD3 35
  • 93.47 (n)
  • 96.34 (a)
ABCD3 36
  • 95 (a)
(Mus musculus)
Mammalia Abcd3 35
  • 89.43 (n)
  • 95.45 (a)
Abcd3 16
Abcd3 36
  • 95 (a)
(Rattus norvegicus)
Mammalia Abcd3 35
  • 90.44 (n)
  • 95.45 (a)
(Monodelphis domestica)
Mammalia ABCD3 36
  • 92 (a)
(Ornithorhynchus anatinus)
Mammalia ABCD3 36
  • 95 (a)
(Pan troglodytes)
Mammalia ABCD3 36
  • 96 (a)
(Gallus gallus)
Aves ABCD3 35
  • 81.89 (n)
  • 88.89 (a)
ABCD3 36
  • 88 (a)
(Anolis carolinensis)
Reptilia ABCD3 36
  • 87 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia abcd3 35
  • 77.85 (n)
  • 88.21 (a)
Str.14736 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.1498 35
(Danio rerio)
Actinopterygii abcd3a 35
  • 72.76 (n)
  • 83.23 (a)
Dr.3614 35
abcd3a 36
  • 83 (a)
abcd3b 36
  • 77 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4773 35
fruit fly
(Drosophila melanogaster)
Insecta CG12703 37
  • 59 (a)
Pmp70 35
  • 55.64 (n)
  • 58.54 (a)
Pmp70 36
  • 58 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000440 35
  • 54.89 (n)
  • 58.49 (a)
(Caenorhabditis elegans)
Secernentea C44B7.8 37
  • 59 (a)
C44B7.9 37
  • 61 (a)
pmp-2 35
  • 61.48 (n)
  • 61.7 (a)
pmp-1 36
  • 56 (a)
pmp-2 36
  • 59 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PXA1 36
  • 23 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons PXA1 35
  • 47.5 (n)
  • 38.79 (a)
(Oryza sativa)
Liliopsida Os.28988 35
Os05g0107600 35
  • 47.34 (n)
  • 38.96 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4944 35
Species with no ortholog for ABCD3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABCD3 Gene

Gene Tree for ABCD3 (if available)
Gene Tree for ABCD3 (if available)

Paralogs for ABCD3 Gene

Paralogs for ABCD3 Gene

Selected SIMAP similar genes for ABCD3 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ABCD3: view

Variants for ABCD3 Gene

Sequence variations from dbSNP and Humsavar for ABCD3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs16946 -- 94,464,789(+) AAAAA(A/G)GAGCG synonymous-codon, reference
rs337592 -- 94,517,254(+) AAATT(A/G)ACTAG utr-variant-3-prime
rs337596 -- 94,505,463(+) cctgc(A/G)acaac intron-variant
rs475110 -- 94,429,214(-) tgaat(G/T)ctttg intron-variant
rs479627 -- 94,466,080(-) AAGTG(C/T)CATTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ABCD3 Gene

Variant ID Type Subtype PubMed ID
nsv871097 CNV Loss 21882294
nsv871764 CNV Loss 21882294
esv2714951 CNV Deletion 23290073
esv1930968 CNV Deletion 18987734
esv3120 CNV Deletion 18987735
esv2714962 CNV Deletion 23290073
esv2714973 CNV Deletion 23290073

Relevant External Links for ABCD3 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCD3 Gene

Disorders for ABCD3 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for ABCD3 Gene in MalaCards »

(3) Diseases for ABCD3 Gene including...

(2) University of Copenhagen DISEASES for ABCD3 Gene

(2) Novoseek inferred disease relationships for ABCD3 Gene

Disease -log(P) Hits PubMed IDs
adrenoleukodystrophy 91.5 11
zellweger syndrome 85 7

Relevant External Links for ABCD3

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with ABCD3: view

No data available for OMIM , UniProtKB/Swiss-Prot and Genatlas for ABCD3 Gene

Publications for ABCD3 Gene

  1. Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. (PMID: 1301993) Gaertner J. … Valle D. (Nat. Genet. 1992) 2 3 4 23
  2. Nucleotide sequence of the human 70 kDa peroxisomal membrane protein: a member of ATP-binding cassette transporters. (PMID: 1536884) Kamijo K. … Hashimoto T. (Biochim. Biophys. Acta 1992) 3 4 23
  3. Genomic organization of the 70-kDa peroxisomal membrane protein gene (PXMP1). (PMID: 9521874) Gaertner J. … Valle D. (Genomics 1998) 3 4 23
  4. Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p. (PMID: 10777694) Gloeckner C.J. … Roscher A.A. (Biochem. Biophys. Res. Commun. 2000) 3 4 23
  5. Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters. (PMID: 11248239) Roerig P. … Gaertner J. (FEBS Lett. 2001) 3 4 23

Products for ABCD3 Gene

Sources for ABCD3 Gene

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