Human Gene ABCD3 (ENST00000370214.9_9) from GENCODE V47lift37
  Description: ATP binding cassette subfamily D member 3, transcript variant 1 (from RefSeq NM_002858.4)
Gencode Transcript: ENST00000370214.9_9
Gencode Gene: ENSG00000117528.14_17
Transcript (Including UTRs)
   Position: hg19 chr1:94,883,945-94,984,219 Size: 100,275 Total Exon Count: 23 Strand: +
Coding Region
   Position: hg19 chr1:94,884,035-94,982,685 Size: 98,651 Coding Exon Count: 23 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:94,883,945-94,984,219)mRNA (may differ from genome)Protein (659 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ABCD3_HUMAN
DESCRIPTION: RecName: Full=ATP-binding cassette sub-family D member 3; AltName: Full=70 kDa peroxisomal membrane protein; Short=PMP70;
FUNCTION: Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity.
SUBUNIT: Can form heterodimers with ABCD1/ALD and ABCD2/ALDR. Dimerization is necessary to form an active transporter. Interacts with PEX19.
INTERACTION: P33897:ABCD1; NbExp=2; IntAct=EBI-80992, EBI-81045; P40855:PEX19; NbExp=2; IntAct=EBI-80992, EBI-594747;
SUBCELLULAR LOCATION: Peroxisome membrane; Multi-pass membrane protein.
MISCELLANEOUS: 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.
SIMILARITY: Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily.
SIMILARITY: Contains 1 ABC transmembrane type-1 domain.
SIMILARITY: Contains 1 ABC transporter domain.
WEB RESOURCE: Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=P28288";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ABCD3
Diseases sorted by gene-association score: bile acid synthesis defect, congenital, 5* (1050), zellweger syndrome (34), adrenoleukodystrophy (17), congenital bile acid synthesis defect (8), cerebral degeneration (5), peroxisomal disease (5), peroxisome biogenesis disorder 1b (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.52 RPKM in Liver
Total median expression: 335.51 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -32.0090-0.356 Picture PostScript Text
3' UTR -350.301534-0.228 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003593 - AAA+_ATPase
IPR010509 - ABC_Ald_N
IPR003439 - ABC_transporter-like
IPR017871 - ABC_transporter_CS
IPR017940 - ABC_transporter_type1
IPR011527 - ABC_transptrTM_dom_typ1
IPR005283 - FA_transporter

Pfam Domains:
PF00005 - ABC transporter
PF06472 - ABC transporter transmembrane region 2

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases
53795 - PEP carboxykinase-like
90123 - ABC transporter transmembrane region

ModBase Predicted Comparative 3D Structure on P28288
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005324 long-chain fatty acid transporter activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016887 ATPase activity
GO:0042626 ATPase activity, coupled to transmembrane movement of substances
GO:0042803 protein homodimerization activity
GO:0043621 protein self-association

Biological Process:
GO:0006633 fatty acid biosynthetic process
GO:0006635 fatty acid beta-oxidation
GO:0007031 peroxisome organization
GO:0014070 response to organic cyclic compound
GO:0015910 peroxisomal long-chain fatty acid import
GO:0042493 response to drug
GO:0042760 very long-chain fatty acid catabolic process
GO:0055085 transmembrane transport

Cellular Component:
GO:0005739 mitochondrion
GO:0005777 peroxisome
GO:0005778 peroxisomal membrane
GO:0005782 peroxisomal matrix
GO:0005829 cytosol
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  AK296791 - Homo sapiens cDNA FLJ53353 complete cds, highly similar to ATP-binding cassette sub-family D member 3.
AK302714 - Homo sapiens cDNA FLJ54042 complete cds, highly similar to ATP-binding cassette sub-family D member 3.
AK308159 - Homo sapiens cDNA, FLJ98107.
BC068509 - Homo sapiens ATP-binding cassette, sub-family D (ALD), member 3, mRNA (cDNA clone MGC:87282 IMAGE:5265201), complete cds.
BC009712 - Homo sapiens ATP-binding cassette, sub-family D (ALD), member 3, mRNA (cDNA clone IMAGE:3895175), complete cds.
X58528 - Human PMP70 mRNA for a peroxisomal membrane protein.
AB529219 - Synthetic construct DNA, clone: pF1KB6181, Homo sapiens ABCD3 gene for ATP-binding cassette, sub-family D (ALD), member 3, without stop codon, in Flexi system.
KJ905886 - Synthetic construct Homo sapiens clone ccsbBroadEn_15556 ABCD3 gene, encodes complete protein.
CU679455 - Synthetic construct Homo sapiens gateway clone IMAGE:100016844 5' read ABCD3 mRNA.
BT006644 - Homo sapiens ATP-binding cassette, sub-family D (ALD), member 3 mRNA, complete cds.
M81182 - Homo sapiens peroxisomal 70 kD membrane protein mRNA, complete cds.
JD407770 - Sequence 388794 from Patent EP1572962.
BX648715 - Homo sapiens mRNA; cDNA DKFZp686E02117 (from clone DKFZp686E02117).
AK126440 - Homo sapiens cDNA FLJ44476 fis, clone UTERU2031611.
JD561827 - Sequence 542851 from Patent EP1572962.
JD363071 - Sequence 344095 from Patent EP1572962.
JD089711 - Sequence 70735 from Patent EP1572962.
JD555949 - Sequence 536973 from Patent EP1572962.
JD521824 - Sequence 502848 from Patent EP1572962.
JD027401 - Sequence 8425 from Patent EP1572962.
JD280340 - Sequence 261364 from Patent EP1572962.
JD026633 - Sequence 7657 from Patent EP1572962.
JD034370 - Sequence 15394 from Patent EP1572962.
JD031269 - Sequence 12293 from Patent EP1572962.
JD488864 - Sequence 469888 from Patent EP1572962.
JD168178 - Sequence 149202 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_nuclearRsPathway - Nuclear Receptors in Lipid Metabolism and Toxicity

Reactome (by CSHL, EBI, and GO)

Protein P28288 (Reactome details) participates in the following event(s):

R-HSA-382613 PEX-19 docks ABCD1/D2/D3 to peroximal membrane
R-HSA-382575 ABCD1-3 dimers transfer LCFAs from cytosol to peroxisomal matrix
R-HSA-1369062 ABC transporters in lipid homeostasis
R-HSA-382556 ABC-family proteins mediated transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: ABCD3 , ABCD3_HUMAN, D3DT46, ENST00000370214.1, ENST00000370214.2, ENST00000370214.3, ENST00000370214.4, ENST00000370214.5, ENST00000370214.6, ENST00000370214.7, ENST00000370214.8, NM_002858, P28288, PMP70, PXMP1 , Q15271, Q6NUN5, Q96DA3, Q9H529, uc318ieu.1, uc318ieu.2
UCSC ID: ENST00000370214.9_9
RefSeq Accession: NM_002858.4
Protein: P28288 (aka ABCD3_HUMAN or ABD3_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.