ヒポキサンチン-グアニンホスホリボシルトランスフェラーゼ
| ヒポキサンチンホスホリボシルトランスフェラーゼ | |||||||||
|---|---|---|---|---|---|---|---|---|---|
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| 識別子 | |||||||||
| EC番号 | 2.4.2.8 | ||||||||
| CAS登録番号 | 9016-12-0 | ||||||||
| データベース | |||||||||
| IntEnz | IntEnz view | ||||||||
| BRENDA | BRENDA entry | ||||||||
| ExPASy | NiceZyme view | ||||||||
| KEGG | KEGG entry | ||||||||
| MetaCyc | metabolic pathway | ||||||||
| PRIAM | profile | ||||||||
| PDB構造 | RCSB PDB PDBj PDBe PDBsum | ||||||||
| 遺伝子オントロジー | AmiGO / QuickGO | ||||||||
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ヒポキサンチン-グアニンホスホリボシルトランスフェラーゼ（英: Hypoxanthine-guanine phosphoribosyltransferase; HGPRT[1]はプリン代謝に関わる酵素の1つ。酵素学的にはヒポキサンチンホスホリボシルトランスフェラーゼ(hypoxanthine phosphoribosyltransferase, HPRT)と呼び、系統名はIMP:diphosphate phospho-D-ribosyltransferaseである。
反応
[編集]- イノシン酸 + 二リン酸 ヒポキサンチン + ホスホリボシル二リン酸
- グアニル酸 + 二リン酸 グアニン + ホスホリボシル二リン酸
- キサンチル酸 + 二リン酸 キサンチン + ホスホリボシル二リン酸
通常は1番目と2番目の反応を触媒することから、HGPRTと呼ばれることが多い。
機能
[編集]この酵素は主に上記反応式の左向きの反応により、DNA、RNAなどの代謝分解によって生じたプリン塩基を再利用してヌクレオチドの再合成を行う。
突然変異
[編集]遺伝子の突然変異は高尿酸血症を誘引する。
- レッシュ・ナイハン症候群はHPRTの突然変異で起こる。
- いくつかの変異は痛風に繋がる。
関連項目
[編集]脚注
[編集]参考文献
[編集]- Sculley DG, Dawson PA, Emmerson BT, Gordon RB (1993). "A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.". Hum. Genet. 90 (3): 195-207. PMID 1487231.
- Davidson BL, Tarlé SA, Van Antwerp M, et al. (1991). "Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.". Am. J. Hum. Genet. 48 (5): 951-8. PMID 2018042.
- Stout JT, Caskey CT (1986). "HPRT: gene structure, expression, and mutation.". Annu. Rev. Genet. 19: 127-48. doi:10.1146/annurev.ge.19.120185.001015. PMID 3909940.
- Sege-Peterson K, Chambers J, Page T, et al. (1993). "Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency.". Hum. Mol. Genet. 1 (6): 427-32. PMID 1301916.
- Lightfoot T, Joshi R, Nuki G, Snyder FF (1992). "The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction.". Hum. Genet. 88 (6): 695-6. PMID 1551676.
- Yamada Y, Goto H, Ogasawara N (1992). "Identification of two independent Japanese mutant HPRT genes using the PCR technique.". Adv. Exp. Med. Biol. 309B: 121-4. PMID 1840476.
- Sculley DG, Dawson PA, Beacham IR, et al. (1991). "Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification.". Hum. Genet. 87 (6): 688-92. PMID 1937471.
- Tarlé SA, Davidson BL, Wu VC, et al. (1991). "Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects.". Genomics 10 (2): 499-501. PMID 2071157.
- Gordon RB, Sculley DG, Dawson PA, et al. (1991). "Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE).". J. Inherit. Metab. Dis. 13 (5): 692-700. PMID 2246854.
- Edwards A, Voss H, Rice P, et al. (1990). "Automated DNA sequencing of the human HPRT locus.". Genomics 6 (4): 593-608. PMID 2341149.
- Gibbs RA, Nguyen PN, Edwards A, et al. (1990). "Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.". Genomics 7 (2): 235-44. PMID 2347587.
- Skopek TR, Recio L, Simpson D, et al. (1990). "Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures.". Hum. Genet. 85 (1): 111-6. PMID 2358296.
- Davidson BL, Tarlé SA, Palella TD, Kelley WN (1989). "Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts.". J. Clin. Invest. 84 (1): 342-6. PMID 2738157.
- Ogasawara N, Stout JT, Goto H, et al. (1989). "Molecular analysis of a female Lesch-Nyhan patient.". J. Clin. Invest. 84 (3): 1024-7. PMID 2760209.
- Yang TP, Stout JT, Konecki DS, et al. (1988). "Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement.". Somat. Cell Mol. Genet. 14 (3): 293-303. PMID 2835825.
- Fujimori S, Hidaka Y, Davidson BL, et al. (1988). "Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor).". Hum. Genet. 79 (1): 39-43. PMID 2896620.
- Davidson BL, Pashmforoush M, Kelley WN, Palella TD (1989). "Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville).". J. Biol. Chem. 264 (1): 520-5. PMID 2909537.
- Fujimori S, Davidson BL, Kelley WN, Palella TD (1989). "Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.". J. Clin. Invest. 83 (1): 11-3. PMID 2910902.