Andreoletti Pierre, Raas Quentin, Gondcaille Catherine, Cherkaoui-Malki Mustapha, Trompier Doriane, Savary Stéphane
Laboratoire Bio-PeroxIL EA7270, University of Bourgogne Franche-Comté, 6 Bd Gabriel, 21000 Dijon, France.
Int J Mol Sci. 2017 Jul 22;18(7):1593. doi: 10.3390/ijms18071593.
The peroxisomal ATP-binding Cassette (ABC) transporters, which are called ABCD1, ABCD2 and ABCD3, are transmembrane proteins involved in the transport of various lipids that allow their degradation inside the organelle. Defective ABCD1 leads to the accumulation of very long-chain fatty acids and is associated with a complex and severe neurodegenerative disorder called X-linked adrenoleukodystrophy (X-ALD). Although the nucleotide-binding domain is highly conserved and characterized within the ABC transporters family, solid data are missing for the transmembrane domain (TMD) of ABCD proteins. The lack of a clear consensus on the secondary and tertiary structure of the TMDs weakens any structure-function hypothesis based on the very diverse ABCD1 mutations found in X-ALD patients. Therefore, we first reinvestigated thoroughly the structure-function data available and performed refined alignments of ABCD protein sequences. Based on the 2.85 Å resolution crystal structure of the mitochondrial ABC transporter ABCB10, here we propose a structural model of peroxisomal ABCD proteins that specifies the position of the transmembrane and coupling helices, and highlight functional motifs and putative important amino acid residues.
过氧化物酶体ATP结合盒(ABC)转运蛋白,即ABCD1、ABCD2和ABCD3,是跨膜蛋白,参与多种脂质的转运,使它们能够在细胞器内降解。ABCD1功能缺陷会导致极长链脂肪酸积累,并与一种名为X连锁肾上腺脑白质营养不良(X-ALD)的复杂严重神经退行性疾病相关。尽管核苷酸结合结构域在ABC转运蛋白家族中高度保守且具有特征,但关于ABCD蛋白跨膜结构域(TMD)的可靠数据仍然缺失。由于对TMD的二级和三级结构缺乏明确的共识,基于在X-ALD患者中发现的非常多样的ABCD1突变所提出的任何结构-功能假说都受到削弱。因此,我们首先彻底重新研究了现有的结构-功能数据,并对ABCD蛋白序列进行了精细比对。基于线粒体ABC转运蛋白ABCB10 2.85 Å分辨率的晶体结构,我们在此提出过氧化物酶体ABCD蛋白的结构模型,该模型确定了跨膜螺旋和偶联螺旋的位置,并突出了功能基序和推定的重要氨基酸残基。