Fields »
ABOUT
HELP
BLOG
ABCD1

GENERAL INFORMATION

Gene name

 ABCD1

Gene description

 ATP-binding cassette, sub-family D (ALD), member 1

Protein class

 Disease related genes
Potential drug targets
Predicted membrane proteins
Transporters

Predicted localization

 Membrane

Number of transcripts

 2
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Expressed in all
HPA (cell line):Cell line enhanced (EFO-21)
HPA (normal tissue):Expressed in all

Protein evidence

 Evidence at protein level

ANTIBODY IHC RELIABILITY

Reliability score

 Pending cancer tissue analysis.

PROGNOSTIC SUMMARY
Prognostic marker in renal cancer (unfavourable).
Renal cancer p<0.001
Show all

RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Expressed in all

PROTEIN EXPRESSION

Pending cancer tissue analysis

STAINING SUMMARY

 

GENE INFORMATION

Gene name

 ABCD1 (HGNC Symbol)

Synonyms

 adrenoleukodystrophy, ALD, ALDP, AMN

Description

 ATP-binding cassette, sub-family D (ALD), member 1 (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 is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq, Jul 2008]

Chromosome

 X

Cytoband

 q28

Chromosome location (bp)

 153724868 - 153744762

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000101986 (version 83.38)

Entrez gene

 215

UniProt

 P33897 (UniProt - Evidence at protein level)

neXtProt

 NX_P33897

Antibodypedia

 ABCD1 antibodies

PROTEIN BROWSER
ABCD1-001
ABCD1-003

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ABCD1-001
ENSP00000218104
ENST00000218104
P33897 [Direct mapping]
ATP-binding cassette sub-family D member 1
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
   # 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:0005215 [transporter activity]
GO:0005324 [long-chain fatty acid transporter activity]
GO:0005325 [peroxisomal fatty-acyl-CoA transporter activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005777 [peroxisome]
GO:0005778 [peroxisomal membrane]
GO:0005779 [integral component of peroxisomal membrane]
GO:0005829 [cytosol]
GO:0006635 [fatty acid beta-oxidation]
GO:0006810 [transport]
GO:0007031 [peroxisome organization]
GO:0015910 [peroxisomal long-chain fatty acid import]
GO:0015919 [peroxisomal membrane transport]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016887 [ATPase activity]
GO:0019899 [enzyme binding]
GO:0033540 [fatty acid beta-oxidation using acyl-CoA oxidase]
GO:0033559 [unsaturated fatty acid metabolic process]
GO:0036109 [alpha-linolenic acid metabolic process]
GO:0042626 [ATPase activity, coupled to transmembrane movement of substances]
GO:0042758 [long-chain fatty acid catabolic process]
GO:0042760 [very long-chain fatty acid catabolic process]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0043651 [linoleic acid metabolic process]
GO:0044255 [cellular lipid metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0048471 [perinuclear region of cytoplasm]
GO:0055085 [transmembrane transport]
Show all
 745 aa
82.9 kDa 		Yes 5
ABCD1-003
ENSP00000359147
ENST00000370129
A6NEP8 [Direct mapping]
ATP-binding cassette sub-family D member 1
Show all
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
   2TM proteins predicted by MDM
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005524 [ATP binding]
GO:0005778 [peroxisomal membrane]
GO:0006635 [fatty acid beta-oxidation]
GO:0006810 [transport]
GO:0016021 [integral component of membrane]
GO:0042626 [ATPase activity, coupled to transmembrane movement of substances]
GO:0055085 [transmembrane transport]
Show all
 227 aa
24.8 kDa 		No 2

Contact

The Project

The Human Protein Atlas

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