MitoProteome Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins

MT000025

UniProt Annotations

Entry Information

Gene Name	ATP-binding cassette, sub-family D (ALD), member 1
Protein Entry	ABCD1_HUMAN
UniProt ID	P33897
Species	Human

Comments

Comment type	Description
Disease	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: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.
Disease	Note=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}.
Function	Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity. {ECO:0000269\|PubMed:11248239}.
Interaction	Self; 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;
Similarity	Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily. {ECO:0000305}.
Similarity	Contains 1 ABC transmembrane type-1 domain. {ECO:0000255\|PROSITE-ProRule:PRU00441}.
Similarity	Contains 1 ABC transporter domain. {ECO:0000255\|PROSITE-ProRule:PRU00434}.
Subcellular Location	Peroxisome membrane; Multi-pass membrane protein.
Subunit	Can 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 Resource	Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=P33897";
Web Resource	Name=X-ALD gene mutation database; URL="http://www.x-ald.nl/";