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ABCD3

GENERAL INFORMATION

Gene name

 ABCD3

Gene description

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

Protein class

 Disease related genes
Potential drug targets
Predicted membrane proteins
Transporters

Predicted localization

 Membrane

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Expressed in all
HPA (cell line):Expressed in all
HPA (normal tissue):Expressed in all

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 General cytoplasmic expression with a granular pattern.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data.

Reliability score

 Supported based on 4 antibodies.
HPA032026 , HPA032027 , CAB032516 , CAB075749
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PROGNOSTIC SUMMARY
Prognostic marker in colorectal cancer (favourable) and renal cancer (favourable).
Colorectal cancer p<0.001
Renal cancer p<0.001
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Expressed in all

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA032026
HPA032027
CAB032516
CAB075749

GENE INFORMATION

Gene name

 ABCD3 (HGNC Symbol)

Synonyms

 PMP70, PXMP1, ZWS2

Description

 ATP-binding cassette, sub-family D (ALD), member 3 (HGNC Symbol)

Entrez gene summary

 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]

Chromosome

 1

Cytoband

 p21.3

Chromosome location (bp)

 94418455 - 94518666

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000117528 (version 83.38)

Entrez gene

 5825

UniProt

 P28288 (UniProt - Evidence at protein level)

neXtProt

 NX_P28288

Antibodypedia

 ABCD3 antibodies

PROTEIN BROWSER
ABCD3-001
ABCD3-002

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ABCD3-001
ENSP00000359233
ENST00000370214
P28288 [Direct mapping]
ATP-binding cassette sub-family D member 3
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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
   5TM proteins predicted by MDM
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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GO:0005324 [long-chain fatty acid transporter activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
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:0006810 [transport]
GO:0007031 [peroxisome organization]
GO:0014070 [response to organic cyclic compound]
GO:0015910 [peroxisomal long-chain fatty acid import]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016887 [ATPase activity]
GO:0042493 [response to drug]
GO:0042626 [ATPase activity, coupled to transmembrane movement of substances]
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:0055085 [transmembrane transport]
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 659 aa
75.5 kDa 		No 5
ABCD3-002
ENSP00000326880
ENST00000315713
P28288 [Direct mapping]
ATP-binding cassette sub-family D member 3
Show all
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
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
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:0006810 [transport]
GO:0007031 [peroxisome organization]
GO:0015910 [peroxisomal long-chain fatty acid import]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016887 [ATPase activity]
GO:0042626 [ATPase activity, coupled to transmembrane movement of substances]
GO:0042760 [very long-chain fatty acid catabolic process]
GO:0042803 [protein homodimerization activity]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0055085 [transmembrane transport]
Show all
 236 aa
27.1 kDa 		No 3

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.