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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 tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 General cytoplasmic expression with a granular pattern.

DATA 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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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

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
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
   5TM 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: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.