InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ABCD1

Summary

InnateDB Protein

IDBP-89888.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ABCD1

Protein Name

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

Synonyms

ABC42; ALD; ALDP; AMN;

Species

Homo sapiens

Ensembl Protein

ENSP00000218104

InnateDB Gene

IDBG-89886 (ABCD1)

Protein Structure

UniProt Annotation

Function

Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity. {ECO:0000269PubMed:11248239}.

Subcellular Localization

Peroxisome membrane; Multi-pass membrane protein.

Disease Associations

Adrenoleukodystrophy (ALD) [MIM:300100]: A peroxisomal metabolic disorder characterized by progressive multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency (Addison disease). It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical manifestations exist like: cerebral childhood ALD (CALD), adult cerebral ALD (ACALD), adrenomyeloneuropathy (AMN) and 'Addison disease only' (ADO) phenotype. {ECO:0000269PubMed:10369742, ECO:0000269PubMed:10480364, ECO:0000269PubMed:10737980, ECO:0000269PubMed:10980539, ECO:0000269PubMed:11438993, ECO:0000269PubMed:11810273, ECO:0000269PubMed:15643618, ECO:0000269PubMed:21700483, ECO:0000269PubMed:21889498, ECO:0000269PubMed:7581394, ECO:0000269PubMed:7717396, ECO:0000269PubMed:7825602, ECO:0000269PubMed:7849723, ECO:0000269PubMed:7904210, ECO:0000269PubMed:8040304, ECO:0000269PubMed:8566952, ECO:0000269PubMed:8651290, ECO:0000269PubMed:9452087}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=The promoter region of ABCD1 is deleted in the chromosome Xq28 deletion syndrome which involves ABCD1 and the neighboring gene BCAP31. {ECO:0000269PubMed:11992258}.

Tissue Specificity

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR003439 ABC transporter-like
IPR003593 AAA+ ATPase domain
IPR005283 Peroxysomal long chain fatty acyl transporter
IPR010509 Peroxisomal fatty acyl CoA transporter, transmembrane domain
IPR011527 ABC transporter type 1, transmembrane domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00005
PF06472

PRINTS

PIRSF

SMART

SM00382

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P33897