数据库克隆人类δ 1-吡咯-5-羧酸合成酶(P5CS) cDNA:催化脯氨酸生物合成前2步的双功能酶。

B Aral, J S Schlenzig, G Liu, P Kamoun
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引用次数: 0

摘要

δ 1-吡啶-5-羧酸合成酶(P5CS)催化ATP和NAD(P) h依赖的l -谷氨酸转化为谷氨酸-半醛(GSA), GSA是脯氨酸生物合成的代谢前体。采用数据库克隆策略克隆了一段人类P5CS cDNA,测序结果为2907 bp,该cDNA具有2385 bp的封闭开放阅读框(ORF),编码795个氨基酸残基的多肽。该cDNA编码一种双功能酶,具有γ -谷氨酰激酶(γ - gk)和γ -谷氨酰磷酸还原酶(γ - gpr)活性,催化脯氨酸生物合成的前两个步骤,并与来自各种组织的4.5 kb mRNA杂交。一种由P5CS缺陷引起的人类遗传疾病已被确认。P5CS缺乏的表型特征包括关节过度松弛、皮肤过度弹性、白内障和智力低下,伴有高氨血症和血浆脯氨酸、瓜氨酸和鸟氨酸水平低。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Database cloning human delta 1-pyrroline-5-carboxylate synthetase (P5CS) cDNA: a bifunctional enzyme catalyzing the first 2 steps in proline biosynthesis.

delta 1-pyrroline-5-carboxylate synthetase (P5CS) catalyzes the ATP and the NAD(P)H-dependent conversion of L-glutamate to glutamic gamma-semialdehyde (GSA) which is the metabolic precursor for proline biosynthesis. We cloned a human P5CS cDNA by database cloning strategy and sequenced 2,907 bp from this cDNA which has a closed open reading frame (ORF) of 2,385 bp coding for a polypeptide of 795 amino acid residues. This cDNA, as its plant counterpart, encodes a bifunctional enzyme, with both gamma-glutamyl kinase (gamma-GK) and gamma-glutamyl phosphate reductase (gamma-GPR) activities that catalyzes the first 2 steps in proline biosynthesis and it hybridizes to a 4.5 kb mRNA from various tissues. A human genetic disease caused by a deficient P5CS has been recognized. The phenotypic features for deficiency of P5CS include joint hyperlaxity, skin hyperelasticity, cataract and mental retardation with hyperammonemia and low plasma levels of proline, citrulline and ornithine.

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