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MGP000115

UniProt Annotations

Entry Information
Gene NameATP-binding cassette, sub-family D (ALD), member 1
Protein EntryABCD1_HUMAN
UniProt IDP33897
SpeciesHuman
Comments
Comment typeDescription
DiseaseAdrenoleukodystrophy (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:0000269|PubMed:10369742, ECO:0000269|PubMed:10480364, ECO:0000269|PubMed:10737980, ECO:0000269|PubMed:10980539, ECO:0000269|PubMed:11438993, ECO:0000269|PubMed:11810273, ECO:0000269|PubMed:15643618, ECO:0000269|PubMed:21700483, ECO:0000269|PubMed:21889498, ECO:0000269|PubMed:7581394, ECO:0000269|PubMed:7717396, ECO:0000269|PubMed:7825602, ECO:0000269|PubMed:7849723, ECO:0000269|PubMed:7904210, ECO:0000269|PubMed:8040304, ECO:0000269|PubMed:8566952, ECO:0000269|PubMed:8651290, ECO:0000269|PubMed:9452087}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseNote=The promoter region of ABCD1 is deleted in the chromosome Xq28 deletion syndrome which involves ABCD1 and the neighboring gene BCAP31. {ECO:0000269|PubMed:11992258}.
FunctionProbable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity. {ECO:0000269|PubMed:11248239}.
InteractionSelf; NbExp=2; IntAct=EBI-81045, EBI-81045; P48410:Abcd1 (xeno); NbExp=2; IntAct=EBI-81045, EBI-81118; P28288:ABCD3; NbExp=2; IntAct=EBI-81045, EBI-80992; P40855:PEX19; NbExp=3; IntAct=EBI-81045, EBI-594747;
SimilarityBelongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily. {ECO:0000305}.
SimilarityContains 1 ABC transmembrane type-1 domain. {ECO:0000255|PROSITE-ProRule:PRU00441}.
SimilarityContains 1 ABC transporter domain. {ECO:0000255|PROSITE-ProRule:PRU00434}.
Subcellular LocationPeroxisome membrane; Multi-pass membrane protein.
SubunitCan form homodimers and heterodimers with ABCD2/ALDR and ABCD3/PMP70. Dimerization is necessary to form an active transporter. Interacts with PEX19. {ECO:0000269|PubMed:10551832, ECO:0000269|PubMed:10704444, ECO:0000269|PubMed:10777694}.
Web ResourceName=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=P33897";
Web ResourceName=X-ALD gene mutation database; URL="http://www.x-ald.nl/";
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