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MT000522

UniProt Annotations

Entry Information

Gene Name	ATP-binding cassette, sub-family D (ALD), member 3
Protein Entry	ABCD3_HUMAN
UniProt ID	P28288
Species	Human

Comments

Comment type	Description
Alternative Products	Event=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;
Function	Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity. {ECO:0000269\|PubMed:11248239}.
Interaction	P33897:ABCD1; NbExp=2; IntAct=EBI-80992, EBI-81045; P40855:PEX19; NbExp=4; IntAct=EBI-80992, EBI-594747;
Miscellaneous	Mutation 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.
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 {ECO:0000269\|PubMed:10704444}; Multi-pass membrane protein {ECO:0000255\|PROSITE-ProRule:PRU00441, ECO:0000269\|PubMed:10704444}.
Subunit	Can 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 Resource	Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=P28288";