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Aliases for ABCD3 Gene

Aliases for ABCD3 Gene

  • ATP Binding Cassette Subfamily D Member 3 2 3 5
  • ATP-Binding Cassette, Sub-Family D (ALD), Member 3 2 3
  • 70 KDa Peroxisomal Membrane Protein 3 4
  • PXMP1 3 4
  • PMP70 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 Subfamily D Member 3) is a Protein Coding gene. Diseases associated with ABCD3 include Bile Acid Synthesis Defect, Congenital, 5 and Zellweger Syndrome. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Peroxisome. Gene Ontology (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 ABCD2.

UniProtKB/Swiss-Prot for ABCD3 Gene

  • Probable transporter involved in the transport of branched-chain fatty acids and C27 bile acids into the peroxisome; the latter function is a crucial step in bile acid biosynthesis (PubMed:25168382). The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity (PubMed:11248239).

Gene Wiki entry for ABCD3 Gene

Additional gene information for ABCD3 Gene

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

Genomics for ABCD3 Gene

GeneHancer (GH) Regulatory Elements for ABCD3 Gene

Promoters and enhancers for ABCD3 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I094416 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 572 +0.2 209 3.6 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ABCD3 CNN3 MIG7 RWDD3 ENSG00000228852 DNTTIP2 SLC44A3 GC01P094517
GH01I094383 Enhancer 1.2 Ensembl ENCODE 16.6 -33.1 -33089 3.5 PKNOX1 FOXA2 MLX ZNF133 ARID4B SIN3A ZNF48 ETS1 YY1 ATF7 ABCD3 LOC107985092 RPL21P26 GC01M094333
GH01I094321 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -92.7 -92741 7.3 FOXA2 SIN3A FEZF1 GLIS2 FOS SP3 REST TSHZ1 ZNF518A SREBF1 LOC107985092 ABCD3 ABCA4 ARHGAP29 F3 LOC105378859 GAPDHP29
GH01I094463 Enhancer 0.7 ENCODE 23.6 +45.8 45759 0.7 ELF3 CTCF SAP130 ARID4B MAX RAD21 ZNF7 ARID2 ZNF143 SMC3 ABCD3 SLC44A3 SLC44A3-AS1 GC01P094517
GH01I094537 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.6 +123.8 123802 8 ARID4B SIN3A GLIS2 FOS DEK SP3 SP5 REST SMARCB1 NFIL3 F3 GC01P094541 SLC44A3 SLC44A3-AS1 ABCD3 GC01P094538
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ABCD3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABCD3 gene promoter:

Genomic Locations for ABCD3 Gene

Genomic Locations for ABCD3 Gene
100,581 bases
Plus strand

Genomic View for ABCD3 Gene

Genes around ABCD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for ABCD3 Gene

  • Ubiquitination at posLast=66, posLast=286286, Lys347, posLast=479479, and posLast=576576
  • Glycosylation at Asn12, posLast=106106, and posLast=206206
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCD3 Gene

No data available for DME Specific Peptides for ABCD3 Gene

Domains & Families for ABCD3 Gene

Gene Families for ABCD3 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for ABCD3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily.
  • 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 involved in the transport of branched-chain fatty acids and C27 bile acids into the peroxisome; the latter function is a crucial step in bile acid biosynthesis (PubMed:25168382). The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity (PubMed:11248239).

Phenotypes From GWAS Catalog for ABCD3 Gene

Gene Ontology (GO) - Molecular Function for ABCD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005324 long-chain fatty acid transporter activity TAS --
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 --
genes like me logo Genes that share ontologies with ABCD3: view
genes like me logo Genes that share phenotypes with ABCD3: view

Human Phenotype Ontology for ABCD3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ABCD3 Gene

MGI Knock Outs for ABCD3:

Animal Model Products

CRISPR Products

miRNA for ABCD3 Gene

miRTarBase miRNAs that target ABCD3

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABCD3 gene
Compartment Confidence
peroxisome 5
cytosol 5
mitochondrion 4
plasma membrane 1
extracellular 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ABCD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005777 peroxisome IDA,IEA 9425230
GO:0005778 peroxisomal membrane TAS --
GO:0005782 peroxisomal matrix IDA 9765053
genes like me logo Genes that share ontologies with ABCD3: view

Pathways & Interactions for ABCD3 Gene

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

Pathways by source for ABCD3 Gene

Gene Ontology (GO) - Biological Process for ABCD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006633 fatty acid biosynthetic process IMP 25168382
GO:0006635 fatty acid beta-oxidation IGI 9425230
GO:0006810 transport IEA --
GO:0007031 peroxisome organization IMP 9765053
GO:0014070 response to organic cyclic compound IEA --
genes like me logo Genes that share ontologies with ABCD3: view

No data available for SIGNOR curated interactions for ABCD3 Gene

Drugs & Compounds for ABCD3 Gene

(1) Drugs for ABCD3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for ABCD3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for ABCD3 Gene

Protein differential expression in normal tissues from HIPED for ABCD3 Gene

This gene is overexpressed in Nasal epithelium (51.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ABCD3 Gene

Protein tissue co-expression partners for ABCD3 Gene

NURSA nuclear receptor signaling pathways regulating expression of ABCD3 Gene:


SOURCE GeneReport for Unigene cluster for ABCD3 Gene:


Evidence on tissue expression from TISSUES for ABCD3 Gene

  • Nervous system(4.9)
  • Liver(4.6)
  • Lung(4.4)
  • Adrenal gland(2.7)
  • Kidney(2.6)
  • Stomach(2.5)
  • Gall bladder(2.2)
  • Intestine(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCD3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • outer ear
  • skull
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • thymus
  • kidney
  • liver
  • spleen
  • pelvis
  • testicle
  • vagina
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ABCD3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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
(Pan troglodytes)
Mammalia ABCD3 34
  • 96 (a)
(Ornithorhynchus anatinus)
Mammalia ABCD3 34
  • 95 (a)
(Canis familiaris)
Mammalia ABCD3 33 34
  • 93.47 (n)
(Bos Taurus)
Mammalia ABCD3 33 34
  • 92.48 (n)
(Monodelphis domestica)
Mammalia ABCD3 34
  • 92 (a)
(Rattus norvegicus)
Mammalia Abcd3 33
  • 90.44 (n)
(Mus musculus)
Mammalia Abcd3 33 16 34
  • 89.43 (n)
(Gallus gallus)
Aves ABCD3 33 34
  • 81.89 (n)
(Anolis carolinensis)
Reptilia ABCD3 34
  • 87 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia abcd3 33
  • 77.85 (n)
Str.14736 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.1498 33
(Danio rerio)
Actinopterygii abcd3b 34
  • 77 (a)
abcd3a 33 34
  • 72.76 (n)
Dr.3614 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4773 33
fruit fly
(Drosophila melanogaster)
Insecta CG12703 35
  • 59 (a)
Pmp70 33 34
  • 55.64 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000440 33
  • 54.89 (n)
(Caenorhabditis elegans)
Secernentea pmp-2 33 34
  • 61.48 (n)
C44B7.9 35
  • 61 (a)
C44B7.8 35
  • 59 (a)
pmp-1 34
  • 56 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PXA1 34
  • 23 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons PXA1 33
  • 47.5 (n)
(Oryza sativa)
Liliopsida Os05g0107600 33
  • 47.34 (n)
Os.28988 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4944 33
Species where no ortholog for ABCD3 was found in the sources mined by GeneCards:
  • 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

(4) 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 Variation AA Info Type
rs121917999 uncertain-significance, Zellweger syndrome 2 94,418,528(+) G/A 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant
rs786200917 uncertain-significance, Zellweger syndrome 2 94,515,203(+) G/A genic_downstream_transcript_variant, splice_donor_variant
rs147055150 likely-benign, not specified 94,517,078(+) C/G coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant
rs16946 benign, not specified 94,464,789(+) G/A/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, synonymous_variant
rs1000016176 -- 94,394,573(+) T/C genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
esv1930968 CNV deletion 18987734
esv2714951 CNV deletion 23290073
esv2714962 CNV deletion 23290073
esv2714973 CNV deletion 23290073
esv3120 CNV loss 18987735
esv3578013 CNV loss 25503493
nsv1122378 CNV deletion 24896259
nsv546851 CNV loss 21841781

Variation tolerance for ABCD3 Gene

Residual Variation Intolerance Score: 16.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.05; 21.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABCD3 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for ABCD3 Gene

MalaCards: The human disease database

(6) MalaCards diseases for ABCD3 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bile acid synthesis defect, congenital, 5
  • cbas5
zellweger syndrome
  • cerebrohepatorenal syndrome
  • ald
congenital bile acid synthesis defect
  • bile acid synthesis defect, congenital, 1
cerebral degeneration
  • brain degeneration
- elite association - COSMIC cancer census association via MalaCards
Search ABCD3 in MalaCards View complete list of genes associated with diseases


  • Congenital bile acid synthesis defect 5 (CBAS5) [MIM:616278]: An autosomal recessive disorder characterized by hepatosplenomegaly, hepatic fibrosis, progressive liver failure, and accumulation of peroxisomal C27-bile acid intermediates in plasma. {ECO:0000269 PubMed:25168382}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ABCD3

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ABCD3: view

No data available for Genatlas for ABCD3 Gene

Publications for ABCD3 Gene

  1. Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. (PMID: 1301993) Gärtner J … Valle D (Nature genetics 1992) 2 3 4 22 58
  2. Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters. (PMID: 11248239) Roerig P … Gärtner J (FEBS letters 2001) 3 4 22 58
  3. Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p. (PMID: 10777694) Gloeckner CJ … Roscher AA (Biochemical and biophysical research communications 2000) 3 4 22 58
  4. Genomic organization of the 70-kDa peroxisomal membrane protein gene (PXMP1). (PMID: 9521874) Gärtner J … Valle D (Genomics 1998) 3 4 22 58
  5. Nucleotide sequence of the human 70 kDa peroxisomal membrane protein: a member of ATP-binding cassette transporters. (PMID: 1536884) Kamijo K … Hashimoto T (Biochimica et biophysica acta 1992) 3 4 22 58

Products for ABCD3 Gene

Sources for ABCD3 Gene

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