8z0f

Structural highlights

Disease

ABCD3_HUMAN The disease is caused by variants affecting the gene represented in this entry.

Function

ABCD3_HUMAN Broad substrate specificity ATP-dependent transporter of the ATP-binding cassette (ABC) family that catalyzes the transport of long-chain fatty acids (LCFA)-CoA, dicarboxylic acids-CoA, long-branched-chain fatty acids-CoA and bile acids from the cytosol to the peroxisome lumen for beta-oxydation (PubMed:11248239, PubMed:24333844, PubMed:25168382, PubMed:29397936). Has fatty acyl-CoA thioesterase and ATPase activities (PubMed:29397936). Probably hydrolyzes fatty acyl-CoAs into free fatty acids prior to their ATP-dependent transport into peroxisomes (By similarity). Thus, play a role in regulation of LCFAs and energy metabolism namely, in the degradation and biosynthesis of fatty acids by beta-oxidation (PubMed:24333844, PubMed:25944712).[UniProtKB:P33897]^{[1] [2] [3] [4] [5]}

References

1. ↑ Roerig P, Mayerhofer P, Holzinger A, Gartner J. Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters. FEBS Lett. 2001 Mar 9;492(1-2):66-72. doi: 10.1016/s0014-5793(01)02235-9. PMID:11248239 doi:http://dx.doi.org/10.1016/s0014-5793(01)02235-9
2. ↑ van Roermund CW, Ijlst L, Wagemans T, Wanders RJ, Waterham HR. A role for the human peroxisomal half-transporter ABCD3 in the oxidation of dicarboxylic acids. Biochim Biophys Acta. 2014 Apr 4;1841(4):563-8. PMID:24333844 doi:10.1016/j.bbalip.2013.12.001
3. ↑ Ferdinandusse S, Jimenez-Sanchez G, Koster J, Denis S, Van Roermund CW, Silva-Zolezzi I, Moser AB, Visser WF, Gulluoglu M, Durmaz O, Demirkol M, Waterham HR, Gökcay G, Wanders RJ, Valle D. A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3. Hum Mol Genet. 2015 Jan 15;24(2):361-70. PMID:25168382 doi:10.1093/hmg/ddu448
4. ↑ Vaca Jacome AS, Rabilloud T, Schaeffer-Reiss C, Rompais M, Ayoub D, Lane L, Bairoch A, Van Dorsselaer A, Carapito C. N-terminome analysis of the human mitochondrial proteome. Proteomics. 2015 Jul;15(14):2519-24. PMID:25944712 doi:10.1002/pmic.201400617
5. ↑ Okamoto T, Kawaguchi K, Watanabe S, Agustina R, Ikejima T, Ikeda K, Nakano M, Morita M, Imanaka T. Characterization of human ATP-binding cassette protein subfamily D reconstituted into proteoliposomes. Biochem Biophys Res Commun. 2018 Feb 19;496(4):1122-1127. doi:, 10.1016/j.bbrc.2018.01.153. Epub 2018 Feb 3. PMID:29397936 doi:http://dx.doi.org/10.1016/j.bbrc.2018.01.153