Wexler I D, Du Y, Lisgaris M V, Mandal S K, Freytag S O, Yang B S, Liu T C, Kwon M, Patel M S, Kerr D S
Department of Biochemistry, Case Western Reserve University School of Medicine, Rainbow Babies and Childrens Hospital, Cleveland, OH 44106.
Biochim Biophys Acta. 1994 Oct 21;1227(1-2):46-52. doi: 10.1016/0925-4439(94)90105-8.
Pyruvate carboxylase (PC) (pyruvate:carbon dioxide ligase (ADP-forming), EC 6.4.1.1.), a nuclear-encoded mitochondrial enzyme, catalyzes the conversion of pyruvate to oxaloacetate. We have isolated and characterized cDNAs spanning the entire coding region of human PC. The sequence of human PC has an open reading frame of 3537 nucleotides which encodes for a polypeptide with a length of 1178 amino acids. The identity of the cDNA as PC is confirmed by comparison to PC cDNAs of other species and sequenced peptide fragments of mammalian PC. The M(r) of the full length precursor protein is 129,576 and that of the mature apoprotein is 127,370. RNA blot analysis from a variety of human tissues demonstrates that the highest level of PC mRNA is found in liver corresponding to this tissue's high level of PC activity. Based on homology with other biotin-containing proteins, the ATP, pyruvate, and biotin-binding sites can be identified. One of two patients with documented PC deficiency was found to be missing PC mRNA, further confirming the identity of this cDNA.
丙酮酸羧化酶（PC）（丙酮酸：二氧化碳连接酶（生成ADP），EC 6.4.1.1.）是一种核编码的线粒体酶，催化丙酮酸转化为草酰乙酸。我们已经分离并鉴定了跨越人类PC整个编码区的cDNA。人类PC的序列有一个3537个核苷酸的开放阅读框，编码一个长度为1178个氨基酸的多肽。通过与其他物种的PC cDNA以及哺乳动物PC的测序肽片段进行比较，证实了该cDNA就是PC。全长前体蛋白的相对分子质量为129576，成熟脱辅基蛋白的相对分子质量为127370。对多种人类组织进行的RNA印迹分析表明，在肝脏中发现PC mRNA的水平最高，这与该组织中PC的高活性相对应。基于与其他含生物素蛋白的同源性，可以确定ATP、丙酮酸和生物素结合位点。在两名有记录的PC缺乏症患者中，有一名被发现缺失PC mRNA，这进一步证实了该cDNA的身份。
