Homo sapiens Gene: ABCD1
Summary
InnateDB Gene IDBG-89886.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ABCD1
Gene Name ATP-binding cassette, sub-family D (ALD), member 1
Synonyms ABC42; ALD; ALDP; AMN;
Species Homo sapiens
Ensembl Gene ENSG00000101986
Encoded Proteins
ATP-binding cassette, sub-family D (ALD), member 1
ATP-binding cassette, sub-family D (ALD), member 1
ATP-binding cassette, sub-family D (ALD), member 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:153724868-153744762
Strand Forward strand
Band q28
Transcripts
ENST00000218104 ENSP00000218104
ENST00000370129 ENSP00000359147
ENST00000443684 ENSP00000413695
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 23 [view]
Protein-Protein 23 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005215 transporter activity
GO:0005325 peroxisomal fatty-acyl-CoA transporter activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016887 ATPase activity
GO:0019899 enzyme binding
GO:0042626 ATPase activity, coupled to transmembrane movement of substances
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
Biological Process
GO:0006200 ATP catabolic process
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:0033540 fatty acid beta-oxidation using acyl-CoA oxidase
GO:0033559 unsaturated fatty acid metabolic process
GO:0036109 alpha-linolenic acid metabolic process
GO:0042758 long-chain fatty acid catabolic process
GO:0042760 very long-chain fatty acid catabolic process
GO:0043651 linoleic acid metabolic process
GO:0044255 cellular lipid metabolic process
GO:0044281 small molecule metabolic process
GO:0055085 transmembrane transport
Cellular Component
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005777 peroxisome
GO:0005778 peroxisomal membrane
GO:0005779 integral component of peroxisomal membrane
GO:0005829 cytosol
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0048471 perinuclear region of cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Transmembrane transport of small molecules pathway
Metabolism of lipids and lipoproteins pathway
alpha-linolenic acid (ALA) metabolism pathway
Peroxisomal lipid metabolism pathway
alpha-linolenic (omega3) and linoleic (omega6) acid metabolism pathway
ABCA transporters in lipid homeostasis pathway
ABC-family proteins mediated transport pathway
Linoleic acid (LA) metabolism pathway
Beta-oxidation of very long chain fatty acids pathway
Metabolism pathway
KEGG
ABC transporters pathway
Peroxisome pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.159546
RefSeq NM_000033
HUGO
OMIM
CCDS CCDS14728
HPRD 02300
IMGT
EMBL
GenPept
RNA Seq Atlas