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PYCR1

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{Infobox_gene}}

Pyrroline-5-carboxylate reductase 1, mitochondrial is an enzyme that in humans is encoded by the PYCR1 gene.{{cite journal | vauthors = Dougherty KM, Brandriss MC, Valle D | title = Cloning human pyrroline-5-carboxylate reductase cDNA by complementation in Saccharomyces cerevisiae | journal = The Journal of Biological Chemistry | volume = 267 | issue = 2 | pages = 871–5 | date = January 1992 | doi = 10.1016/S0021-9258(18)48364-0 | pmid = 1730675 | doi-access = free }}{{cite web | title = Entrez Gene: PYCR1 pyrroline-5-carboxylate reductase 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5831}}

This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes to the mitochondrion. Alternate splicing results in two transcript variants encoding different isoforms. As reported by Bruno Reversade and colleagues, PYCR1 deficiency in humans causes a progeroid disease known as De Barsy Syndrome mainly affecting connective tissues with dermis thinning and bone fragility.{{cite journal | vauthors = Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Schmidt-von Kegler M, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Hausser I, Budde B, Nürnberg G, Nürnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U | display-authors = 6 | title = Mutations in PYCR1 cause cutis laxa with progeroid features | journal = Nature Genetics | volume = 41 | issue = 9 | pages = 1016–21 | date = September 2009 | pmid = 19648921 | doi = 10.1038/ng.413 | s2cid = 10221927 }}

References

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Further reading

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  • {{cite journal | vauthors = Herzfeld A, Legg MA, Greengard O | title = Human colon tumors: enzymic and histological characteristics | journal = Cancer | volume = 42 | issue = 3 | pages = 1280–3 | date = September 1978 | pmid = 212173 | doi = 10.1002/1097-0142(197809)42:3<1280::AID-CNCR2820420337>3.0.CO;2-P | s2cid = 38290701 }}
  • {{cite journal | vauthors = Merrill MJ, Yeh GC, Phang JM | title = Purified human erythrocyte pyrroline-5-carboxylate reductase. Preferential oxidation of NADPH | journal = The Journal of Biological Chemistry | volume = 264 | issue = 16 | pages = 9352–8 | date = June 1989 | doi = 10.1016/S0021-9258(18)60538-1 | pmid = 2722838 | doi-access = free }}
  • {{cite journal | vauthors = Yeh GC, Roth EF, Phang JM, Harris SC, Nagel RL, Rinaldi A | title = The effect of pyrroline-5-carboxylic acid on nucleotide metabolism in erythrocytes from normal and glucose-6-phosphate dehydrogenase-deficient subjects | journal = The Journal of Biological Chemistry | volume = 259 | issue = 9 | pages = 5454–8 | date = May 1984 | doi = 10.1016/S0021-9258(18)91032-X | pmid = 6201483 | doi-access = free }}
  • {{cite journal | vauthors = Herzfeld A, Greengard O | title = Enzyme activities in human fetal and neoplastic tissues | journal = Cancer | volume = 46 | issue = 9 | pages = 2047–54 | date = November 1980 | pmid = 6253048 | doi = 10.1002/1097-0142(19801101)46:9<2047::AID-CNCR2820460924>3.0.CO;2-Q | doi-access = free }}
  • {{cite journal | vauthors = Yeh GC, Harris SC, Phang JM | title = Pyrroline-5-carboxylate reductase in human erythrocytes | journal = The Journal of Clinical Investigation | volume = 67 | issue = 4 | pages = 1042–6 | date = April 1981 | pmid = 6894153 | pmc = 370662 | doi = 10.1172/JCI110115 }}
  • {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1–2 | pages = 171–4 | date = January 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
  • {{cite journal | vauthors = Basch JJ, Wickham ED, Farrell HM | title = Pyrroline-5-carboxylate reductase in lactating bovine mammary glands | journal = Journal of Dairy Science | volume = 79 | issue = 8 | pages = 1361–8 | date = August 1996 | pmid = 8880459 | doi = 10.3168/jds.S0022-0302(96)76493-7 | doi-access = free }}
  • {{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | title = Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library | journal = Gene | volume = 200 | issue = 1–2 | pages = 149–56 | date = October 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
  • {{cite journal | vauthors = Meng Z, Lou Z, Liu Z, Li M, Zhao X, Bartlam M, Rao Z | title = Crystal structure of human pyrroline-5-carboxylate reductase | journal = Journal of Molecular Biology | volume = 359 | issue = 5 | pages = 1364–77 | date = June 2006 | pmid = 16730026 | doi = 10.1016/j.jmb.2006.04.053 }}

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External links

  • [https://www.ebi.ac.uk/pdbe/pdbe-kb/proteins/P32322 PDBe-KB] provides an overview of all the structure information available in the PDB for Human Pyrroline-5-carboxylate reductase 1, mitochondrial (PYCR1)

{{PDB Gallery|geneid=5831}}

{{Amino acid metabolism enzymes}}

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