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ABCD3
HPA
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  • ABCD3
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

ABCD3
Synonyms PMP70, PXMP1, ZWS2
Gene descriptioni

Full gene name according to HGNC.

ATP binding cassette subfamily D member 3
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Human disease related genes
Metabolic proteins
Potential drug targets
Transporters
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Membrane
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 1
Cytoband p21.3
Chromosome location (bp) 94418389 - 94518666
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

3
Ensembl ENSG00000117528 (version 109)
Entrez gene 5825
HGNC HGNC:67
UniProt P28288 (UniProt - Evidence at protein level)
neXtProt NX_P28288
GeneCards ABCD3
Antibodypedia ABCD3 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Broad substrate specificity ATP-dependent transporter of the ATP-binding cassette (ABC) family that catalyzes the transport of long-chain fatty acids (LCFA)-CoA, dicarboxylic acids-CoA, long-branched-chain fatty acids-CoA and bile acids from the cytosol to the peroxisome lumen for beta-oxydation 1, 2, 3, 4. Has fatty acyl-CoA thioesterase and ATPase activities 5. Probably hydrolyzes fatty acyl-CoAs into free fatty acids prior to their ATP-dependent transport into peroxisomes (By similarity). Thus, play a role in regulation of LCFAs and energy metabolism namely, in the degradation and biosynthesis of fatty acids by beta-oxidation 6, 7.... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Hydrolase, Translocase
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Transport
Ligand (UniProt)i

Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.

ATP-binding, Nucleotide-binding
Gene summary (Entrez)i

Useful information about the gene from Entrez

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]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
ABCD3-201
ENSP00000326880
ENST00000315713
P28288
[Direct mapping] ATP-binding cassette sub-family D member 3
Show all
Metabolic proteins
Transporters
   Primary Active Transporters
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   3TM proteins predicted by MDM
Disease related genes
Potential drug targets
Human disease related genes
   Congenital disorders of metabolism
   Congenital disorders of lipid/glycolipid metabolism
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
Show all
GO:0000038 [very long-chain fatty acid metabolic process]
GO:0000166 [nucleotide binding]
GO:0005324 [long-chain fatty acid transporter activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005777 [peroxisome]
GO:0005778 [peroxisomal membrane]
GO:0005782 [peroxisomal matrix]
GO:0005829 [cytosol]
GO:0006633 [fatty acid biosynthetic process]
GO:0006635 [fatty acid beta-oxidation]
GO:0006699 [bile acid biosynthetic process]
GO:0007031 [peroxisome organization]
GO:0015721 [bile acid and bile salt transport]
GO:0015910 [long-chain fatty acid import into peroxisome]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016787 [hydrolase activity]
GO:0016887 [ATP hydrolysis activity]
GO:0042626 [ATPase-coupled transmembrane transporter activity]
GO:0042760 [very long-chain fatty acid catabolic process]
GO:0042803 [protein homodimerization activity]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0047617 [acyl-CoA hydrolase activity]
GO:0055085 [transmembrane transport]
GO:0140359 [ABC-type transporter activity]
GO:1903512 [phytanic acid metabolic process]
Show all
236 aa
27.1 kDa
No 3
ABCD3-202
ENSP00000359233
ENST00000370214
P28288
[Direct mapping] ATP-binding cassette sub-family D member 3
Show all
Metabolic proteins
Transporters
   Primary Active Transporters
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   4TM proteins predicted by MDM
Disease related genes
Potential drug targets
Human disease related genes
   Congenital disorders of metabolism
   Congenital disorders of lipid/glycolipid metabolism
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
Show all
GO:0000038 [very long-chain fatty acid metabolic process]
GO:0000166 [nucleotide binding]
GO:0005324 [long-chain fatty acid transporter activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005739 [mitochondrion]
GO:0005777 [peroxisome]
GO:0005778 [peroxisomal membrane]
GO:0005782 [peroxisomal matrix]
GO:0005829 [cytosol]
GO:0006633 [fatty acid biosynthetic process]
GO:0006635 [fatty acid beta-oxidation]
GO:0006699 [bile acid biosynthetic process]
GO:0006869 [lipid transport]
GO:0007031 [peroxisome organization]
GO:0009410 [response to xenobiotic stimulus]
GO:0014070 [response to organic cyclic compound]
GO:0015721 [bile acid and bile salt transport]
GO:0015910 [long-chain fatty acid import into peroxisome]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016787 [hydrolase activity]
GO:0016887 [ATP hydrolysis activity]
GO:0042626 [ATPase-coupled transmembrane transporter activity]
GO:0042760 [very long-chain fatty acid catabolic process]
GO:0042803 [protein homodimerization activity]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0043621 [protein self-association]
GO:0047617 [acyl-CoA hydrolase activity]
GO:0055085 [transmembrane transport]
GO:0140359 [ABC-type transporter activity]
GO:1903512 [phytanic acid metabolic process]
Show all
659 aa
75.5 kDa
No 4
ABCD3-207
ENSP00000497921
ENST00000647998
A0A3B3ITW3
[Direct mapping] ATP-binding cassette sub-family D member 3
Show all
Metabolic proteins
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   5TM proteins predicted by MDM
Human disease related genes
   Congenital disorders of metabolism
   Congenital disorders of lipid/glycolipid metabolism
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
Show all
GO:0000166 [nucleotide binding]
GO:0005324 [long-chain fatty acid transporter activity]
GO:0005524 [ATP binding]
GO:0005777 [peroxisome]
GO:0005778 [peroxisomal membrane]
GO:0015910 [long-chain fatty acid import into peroxisome]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016887 [ATP hydrolysis activity]
GO:0042626 [ATPase-coupled transmembrane transporter activity]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0055085 [transmembrane transport]
GO:0140359 [ABC-type transporter activity]
Show all
659 aa
75.4 kDa
No 5

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