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MGP002540

UniProt Annotations

Entry Information
Gene NameATP-binding cassette, sub-family D (ALD), member 3
Protein EntryABCD3_HUMAN
UniProt IDP28288
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=P28288-1; Sequence=Displayed; Name=2; IsoId=P28288-2; Sequence=VSP_031189; Note=No experimental confirmation available.; Name=3; IsoId=P28288-3; Sequence=VSP_031187, VSP_031188;
FunctionProbable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity. {ECO:0000269|PubMed:11248239}.
InteractionP33897:ABCD1; NbExp=2; IntAct=EBI-80992, EBI-81045; P40855:PEX19; NbExp=4; IntAct=EBI-80992, EBI-594747;
MiscellaneousMutation in ABCD3 have been found in two individuals affected by Zellweger syndrome. However, the role of ABCD3 in the causation of Zellweger syndrome remains uncertain.
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 {ECO:0000269|PubMed:10704444}; Multi-pass membrane protein {ECO:0000255|PROSITE-ProRule:PRU00441, ECO:0000269|PubMed:10704444}.
SubunitCan form heterodimers with ABCD1/ALD and ABCD2/ALDR. 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=P28288";
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