Loading Pathway...
Error: Pathway image not found.
Hide
Pathway Description
5-Oxoprolinase Deficiency
Rattus norvegicus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-09-15
5-Oxoprolinase deficiency, also called OPLAHD, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of glutathione metabolism caused by a defective 5-oxoprolinase. 5-Oxoprolinase catalyzes the conversion of 5-oxoproline into glutamate which is an important neurotransmitter. This disorder is characterized by a large accumulation of 5-oxoproline in the urine. Symptoms of the disorder include enterocolitis, mental retardation, kidney stone formation, and hypoglycemia. 5-Oxoprolinase deficiency has been reported in approximately 8 people.
References
5-Oxoprolinase Deficiency References
Calpena E, Deshpande AA, Yap S, Kumar A, Manning NJ, Bachhawat AK, Espinos C: New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition. Eur J Pediatr. 2015 Mar;174(3):407-11. doi: 10.1007/s00431-014-2397-0. Epub 2014 Aug 17.
Pubmed: 25129617
Van der Werf P, Stephani RA, Orlowski M, Meister A: Inhibition of 5-oxoprolinase by 2-imidazolidone-4-carboxylic acid. Proc Natl Acad Sci U S A. 1973 Mar;70(3):759-61.
Pubmed: 4514988
Glutathione Metabolism References
Huang CS, He W, Meister A, Anderson ME: Amino acid sequence of rat kidney glutathione synthetase. Proc Natl Acad Sci U S A. 1995 Feb 14;92(4):1232-6. doi: 10.1073/pnas.92.4.1232.
Pubmed: 7862666
Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. doi: 10.1101/gr.2596504.
Pubmed: 15489334
Yoshimura S, Takekoshi S, Watanabe K, Fujii-Kuriyama Y: Determination of nucleotide sequence of cDNA coding rat glutathione peroxidase and diminished expression of the mRNA in selenium deficient rat liver. Biochem Biophys Res Commun. 1988 Aug 15;154(3):1024-8. doi: 10.1016/0006-291x(88)90242-2.
Pubmed: 3408482
Ho YS, Howard AJ, Crapo JD: Nucleotide sequence of a rat glutathione peroxidase cDNA. Nucleic Acids Res. 1988 Jun 10;16(11):5207. doi: 10.1093/nar/16.11.5207.
Pubmed: 3387231
Reddy AP, Hsu BL, Reddy PS, Li NQ, Thyagaraju K, Reddy CC, Tam MF, Tu CP: Expression of glutathione peroxidase I gene in selenium-deficient rats. Nucleic Acids Res. 1988 Jun 24;16(12):5557-68. doi: 10.1093/nar/16.12.5557.
Pubmed: 2838821
Gibbs RA, Weinstock GM, Metzker ML, Muzny DM, Sodergren EJ, Scherer S, Scott G, Steffen D, Worley KC, Burch PE, Okwuonu G, Hines S, Lewis L, DeRamo C, Delgado O, Dugan-Rocha S, Miner G, Morgan M, Hawes A, Gill R, Celera, Holt RA, Adams MD, Amanatides PG, Baden-Tillson H, Barnstead M, Chin S, Evans CA, Ferriera S, Fosler C, Glodek A, Gu Z, Jennings D, Kraft CL, Nguyen T, Pfannkoch CM, Sitter C, Sutton GG, Venter JC, Woodage T, Smith D, Lee HM, Gustafson E, Cahill P, Kana A, Doucette-Stamm L, Weinstock K, Fechtel K, Weiss RB, Dunn DM, Green ED, Blakesley RW, Bouffard GG, De Jong PJ, Osoegawa K, Zhu B, Marra M, Schein J, Bosdet I, Fjell C, Jones S, Krzywinski M, Mathewson C, Siddiqui A, Wye N, McPherson J, Zhao S, Fraser CM, Shetty J, Shatsman S, Geer K, Chen Y, Abramzon S, Nierman WC, Havlak PH, Chen R, Durbin KJ, Egan A, Ren Y, Song XZ, Li B, Liu Y, Qin X, Cawley S, Worley KC, Cooney AJ, D'Souza LM, Martin K, Wu JQ, Gonzalez-Garay ML, Jackson AR, Kalafus KJ, McLeod MP, Milosavljevic A, Virk D, Volkov A, Wheeler DA, Zhang Z, Bailey JA, Eichler EE, Tuzun E, Birney E, Mongin E, Ureta-Vidal A, Woodwark C, Zdobnov E, Bork P, Suyama M, Torrents D, Alexandersson M, Trask BJ, Young JM, Huang H, Wang H, Xing H, Daniels S, Gietzen D, Schmidt J, Stevens K, Vitt U, Wingrove J, Camara F, Mar Alba M, Abril JF, Guigo R, Smit A, Dubchak I, Rubin EM, Couronne O, Poliakov A, Hubner N, Ganten D, Goesele C, Hummel O, Kreitler T, Lee YA, Monti J, Schulz H, Zimdahl H, Himmelbauer H, Lehrach H, Jacob HJ, Bromberg S, Gullings-Handley J, Jensen-Seaman MI, Kwitek AE, Lazar J, Pasko D, Tonellato PJ, Twigger S, Ponting CP, Duarte JM, Rice S, Goodstadt L, Beatson SA, Emes RD, Winter EE, Webber C, Brandt P, Nyakatura G, Adetobi M, Chiaromonte F, Elnitski L, Eswara P, Hardison RC, Hou M, Kolbe D, Makova K, Miller W, Nekrutenko A, Riemer C, Schwartz S, Taylor J, Yang S, Zhang Y, Lindpaintner K, Andrews TD, Caccamo M, Clamp M, Clarke L, Curwen V, Durbin R, Eyras E, Searle SM, Cooper GM, Batzoglou S, Brudno M, Sidow A, Stone EA, Venter JC, Payseur BA, Bourque G, Lopez-Otin C, Puente XS, Chakrabarti K, Chatterji S, Dewey C, Pachter L, Bray N, Yap VB, Caspi A, Tesler G, Pevzner PA, Haussler D, Roskin KM, Baertsch R, Clawson H, Furey TS, Hinrichs AS, Karolchik D, Kent WJ, Rosenbloom KR, Trumbower H, Weirauch M, Cooper DN, Stenson PD, Ma B, Brent M, Arumugam M, Shteynberg D, Copley RR, Taylor MS, Riethman H, Mudunuri U, Peterson J, Guyer M, Felsenfeld A, Old S, Mockrin S, Collins F: Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature. 2004 Apr 1;428(6982):493-521. doi: 10.1038/nature02426.
Pubmed: 15057822
Puente XS, Lopez-Otin C: A genomic analysis of rat proteases and protease inhibitors. Genome Res. 2004 Apr;14(4):609-22. doi: 10.1101/gr.1946304.
Pubmed: 15060002
Watt VM, Yip CC: Amino acid sequence deduced from a rat kidney cDNA suggests it encodes the Zn-peptidase aminopeptidase N. J Biol Chem. 1989 Apr 5;264(10):5480-7.
Pubmed: 2564389
Malfroy B, Kado-Fong H, Gros C, Giros B, Schwartz JC, Hellmiss R: Molecular cloning and amino acid sequence of rat kidney aminopeptidase M: a member of a super family of zinc-metallohydrolases. Biochem Biophys Res Commun. 1989 May 30;161(1):236-41. doi: 10.1016/0006-291x(89)91586-6.
Pubmed: 2567164
Funkhouser JD, Tangada SD, Jones M, O SJ, Peterson RD: p146 type II alveolar epithelial cell antigen is identical to aminopeptidase N. Am J Physiol. 1991 Apr;260(4 Pt 1):L274-9. doi: 10.1152/ajplung.1991.260.4.L274.
Pubmed: 1673322
Juan TS, McNiece IK, Jenkins NA, Gilbert DJ, Copeland NG, Fletcher FA: Molecular characterization of mouse and rat CPP32 beta gene encoding a cysteine protease resembling interleukin-1 beta converting enzyme and CED-3. Oncogene. 1996 Aug 15;13(4):749-55.
Pubmed: 8761296
Ni B, Wu X, Du Y, Su Y, Hamilton-Byrd E, Rockey PK, Rosteck P Jr, Poirier GG, Paul SM: Cloning and expression of a rat brain interleukin-1beta-converting enzyme (ICE)-related protease (IRP) and its possible role in apoptosis of cultured cerebellar granule neurons. J Neurosci. 1997 Mar 1;17(5):1561-9.
Pubmed: 9030616
Yan N, Meister A: Amino acid sequence of rat kidney gamma-glutamylcysteine synthetase. J Biol Chem. 1990 Jan 25;265(3):1588-93.
Pubmed: 1967255
Lundby A, Secher A, Lage K, Nordsborg NB, Dmytriyev A, Lundby C, Olsen JV: Quantitative maps of protein phosphorylation sites across 14 different rat organs and tissues. Nat Commun. 2012 Jun 6;3:876. doi: 10.1038/ncomms1871.
Pubmed: 22673903
This pathway was propagated using PathWhiz -
Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.
Propagated from SMP0000500
Highlighted elements will appear in red.
Highlight Compounds
Highlight Proteins
Enter relative concentration values (without units). Elements will be highlighted in a color gradient where red = lowest concentration and green = highest concentration. For the best results, view the pathway in Black and White.
Visualize Compound Data
Visualize Protein Data
Downloads
Settings