View source for 7vr1


==Cryo-EM structure of the ATP-binding cassette sub-family D member 1 from Homo sapiens==
<StructureSection load='7vr1' size='340' side='right'caption='[[7vr1]], [[Resolution|resolution]] 3.40&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[7vr1]] is a 2 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=7VR1 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=7VR1 FirstGlance]. <br>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Electron Microscopy, [[Resolution|Resolution]] 3.4&#8491;</td></tr>
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=7vr1 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7vr1 OCA], [https://pdbe.org/7vr1 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7vr1 RCSB], [https://www.ebi.ac.uk/pdbsum/7vr1 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7vr1 ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/ABCD1_HUMAN ABCD1_HUMAN] X-linked cerebral adrenoleukodystrophy;Adrenomyeloneuropathy;CADDS. The disease is caused by variants affecting the gene represented in this entry.  The promoter region of ABCD1 is deleted in the chromosome Xq28 deletion syndrome which involves ABCD1 and the neighboring gene BCAP31.<ref>PMID:11992258</ref> 
== Function ==
[https://www.uniprot.org/uniprot/ABCD1_HUMAN ABCD1_HUMAN] ATP-dependent transporter of the ATP-binding cassette (ABC) family involved in the transport of very long chain fatty acid (VLCFA)-CoA from the cytosol to the peroxisome lumen (PubMed:11248239, PubMed:15682271, PubMed:16946495, PubMed:18757502, PubMed:21145416, PubMed:23671276, PubMed:29397936, PubMed:33500543). Coupled to the ATP-dependent transporter activity has also a fatty acyl-CoA thioesterase activity (ACOT) and hydrolyzes VLCFA-CoA into VLCFA prior their ATP-dependent transport into peroxisomes, the ACOT activity is essential during this transport process (PubMed:33500543, PubMed:29397936). Thus, plays a role in regulation of VLCFAs and energy metabolism namely, in the degradation and biosynthesis of fatty acids by beta-oxidation, mitochondrial function and microsomal fatty acid elongation (PubMed:23671276, PubMed:21145416). Involved in several processes; namely, controls the active myelination phase by negatively regulating the microsomal fatty acid elongation activity and may also play a role in axon and myelin maintenance. Controls also the cellular response to oxidative stress by regulating mitochondrial functions such as mitochondrial oxidative phosphorylation and depolarization. And finally controls the inflammatory response by positively regulating peroxisomal beta-oxidation of VLCFAs (By similarity).[UniProtKB:P48410]<ref>PMID:11248239</ref> <ref>PMID:15682271</ref> <ref>PMID:16946495</ref> <ref>PMID:18757502</ref> <ref>PMID:21145416</ref> <ref>PMID:23671276</ref> <ref>PMID:29397936</ref> <ref>PMID:33500543</ref> 
== References ==
<references/>
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Jia YT]]
[[Category: Yang GH]]
[[Category: Zhang YM]]