PYCR1 Gene

Name	pyrroline-5-carboxylate reductase 1
Description	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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nPYCR1 is a mitochondrial enzyme that catalyomatically reduces Δ¹‐pyrroline‐5‐carboxylate (P5C) to proline using NAD(P)H. This key step in proline biosynthesis is vital not only for amino acid metabolism and maintenance of intracellular redox balance but also for preserving mitochondrial integrity. Mutations in PYCR1 have been linked to autosomal recessive cutis laxa and related progeroid syndromes, in which patients exhibit wrinkled, inelastic skin, growth retardation, and connective tissue abnormalities—findings that correlate with altered mitochondrial morphology, disrupted membrane potential, and enhanced apoptosis in affected fibroblasts."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "6"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn various cancers—including those of the breast, prostate, lung, colorectum, bladder, nasopharynx, liver, and kidney—PYCR1 is frequently up‐regulated and its high expression is associated with poor patient outcomes. Elevated PYCR1 promotes tumor cell proliferation, migration, invasion, and epithelial–mesenchymal transition (EMT) by modulating critical signaling pathways such as p38 MAPK, STAT3, NF‐κB, and Akt, while also facilitating metabolic reprogramming under hypoxic conditions through enhanced proline production and NADH oxidation. Moreover, PYCR1 regulation by microRNAs contributes to altered drug sensitivity and chemoresistance, underscoring its potential as both a prognostic biomarker and a therapeutic target in oncology."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "7", "end_ref": "24"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAt the molecular level, detailed structural and biochemical investigations have characterized the catalytic mechanism of PYCR1—including the identification of a Rossmann fold for cofactor binding and the detrimental impact of missense mutations on enzyme stability and multimerization. Furthermore, PYCR1 interacts with mitochondrial chaperones (for example, the Lon protease) as well as regulatory factors such as DJ‐1 and deacetylases like SIRT3; these interactions, along with microRNA-mediated modulation, fine-tune its enzymatic activity and confer cellular protection against oxidative stress. Such multifaceted regulation not only enables tumor cells to adapt to hypoxic and redox‐challenged microenvironments but also identifies PYCR1 as a promising candidate for targeted therapeutic intervention."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "25"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Duane L Guernsey, Haiyan Jiang, Susan C Evans, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2009.06.008"}], "href": "https://doi.org/10.1016/j.ajhg.2009.06.008"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19576563"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19576563"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Bruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in PYCR1 cause cutis laxa with progeroid features."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.413"}], "href": "https://doi.org/10.1038/ng.413"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19648921"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19648921"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Yeşerin Yildirim, Aslihan Tolun, Beyhan Tüysüz "}, {"type": "b", "children": [{"type": "t", "text": "The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.33747"}], "href": "https://doi.org/10.1002/ajmg.a.33747"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21204221"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21204221"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Rita Kretz, Bita Bozorgmehr, Mohamad Hasan Kariminejad, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Inherit Metab Dis (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10545-011-9319-3"}], "href": "https://doi.org/10.1007/s10545-011-9319-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21487760"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21487760"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Linhua Li, Yujia Ye, Peng Sang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Effect of R119G Mutation on Human P5CR1 Dynamic Property and Enzymatic Activity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biomed Res Int (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1155/2017/4184106"}], "href": "https://doi.org/10.1155/2017/4184106"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28194412"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28194412"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Davor Lessel, Ayse Bilge Ozel, Susan E Campbell, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-018-1957-1"}], "href": "https://doi.org/10.1007/s00439-018-1957-1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30450527"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30450527"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Tatsuki Yasuda, Yusuke Kaji, Tomohiro Agatsuma, et al. "}, {"type": "b", "children": [{"type": "t", "text": "DJ-1 cooperates with PYCR1 in cell protection against oxidative stress."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2013.05.095"}], "href": "https://doi.org/10.1016/j.bbrc.2013.05.095"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23743200"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23743200"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Eduard A Struys, Erwin E W Jansen, Gajja S Salomons "}, {"type": "b", "children": [{"type": "t", "text": "Human pyrroline-5-carboxylate reductase (PYCR1) acts on Δ(1)-piperideine-6-carboxylate generating L-pipecolic acid."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Inherit Metab Dis (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10545-013-9673-4"}], "href": "https://doi.org/10.1007/s10545-013-9673-4"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24431009"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24431009"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Mei-Ling Kuo, Mabel Bin-Er Lee, Michelle Tang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PYCR1 and PYCR2 Interact and Collaborate with RRM2B to Protect Cells from Overt Oxidative Stress."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/srep18846"}], "href": "https://doi.org/10.1038/srep18846"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26733354"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26733354"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Peng Sang, Wei Hu, Yu-Jia Ye, et al. "}, {"type": "b", "children": [{"type": "t", "text": "In silico screening, molecular docking, and molecular dynamics studies of SNP-derived human P5CR mutants."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biomol Struct Dyn (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1080/07391102.2016.1222967"}], "href": "https://doi.org/10.1080/07391102.2016.1222967"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27677826"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27677826"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Tengyue Zeng, Libing Zhu, Min Liao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Knockdown of PYCR1 inhibits cell proliferation and colony formation via cell cycle arrest and apoptosis in prostate cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Med Oncol (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s12032-016-0870-5"}], "href": "https://doi.org/10.1007/s12032-016-0870-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28078560"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28078560"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Jiefeng Ding, Mei-Ling Kuo, Leila Su, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Human mitochondrial pyrroline-5-carboxylate reductase 1 promotes invasiveness and impacts survival in breast cancers."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Carcinogenesis (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/carcin/bgx022"}], "href": "https://doi.org/10.1093/carcin/bgx022"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28379297"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28379297"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Kate E R Hollinshead, Haydn Munford, Katherine L Eales, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Oncogenic IDH1 Mutations Promote Enhanced Proline Synthesis through PYCR1 to Support the Maintenance of Mitochondrial Redox Homeostasis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Rep (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.celrep.2018.02.084"}], "href": "https://doi.org/10.1016/j.celrep.2018.02.084"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29562167"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29562167"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Shuaiyi Chen, Xin Yang, Miao Yu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SIRT3 regulates cancer cell proliferation through deacetylation of PYCR1 in proline metabolism."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neoplasia (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neo.2019.04.008"}], "href": "https://doi.org/10.1016/j.neo.2019.04.008"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31108370"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31108370"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Yawen Gao, Lihua Luo, Yangchun Xie, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PYCR1 knockdown inhibits the proliferation, migration, and invasion by affecting JAK/STAT signaling pathway in lung adenocarcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Carcinog (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/mc.23174"}], "href": "https://doi.org/10.1002/mc.23174"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32133692"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32133692"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Shuangkuan Du, Yongjie Sui, Wei Ren, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PYCR1 promotes bladder cancer by affecting the Akt/Wnt/β-catenin signaling."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Bioenerg Biomembr (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10863-021-09887-3"}], "href": "https://doi.org/10.1007/s10863-021-09887-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33689096"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33689096"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "Jiancong Lu, Junhong Lin, Yu Zhou, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MiR-328-3p inhibits lung adenocarcinoma-genesis by downregulation PYCR1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2021.02.029"}], "href": "https://doi.org/10.1016/j.bbrc.2021.02.029"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33706104"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33706104"}]}, {"type": "r", "ref": 18, "children": [{"type": "t", "text": "Haixia Xu, Yan He, Lin Lin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MiR-1207-5p targets PYCR1 to inhibit the progression of prostate cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2021.08.037"}], "href": "https://doi.org/10.1016/j.bbrc.2021.08.037"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34461437"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34461437"}]}, {"type": "r", "ref": 19, "children": [{"type": "t", "text": "Zhiqun Li, Xiaoliu Zhou, Jiajun Huang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MicroRNA hsa-miR-150-5p inhibits nasopharyngeal carcinogenesis by suppressing PYCR1 (pyrroline-5-carboxylate reductase 1)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Bioengineered (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1080/21655979.2021.1995102"}], "href": "https://doi.org/10.1080/21655979.2021.1995102"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34696668"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34696668"}]}, {"type": "r", "ref": 20, "children": [{"type": "t", "text": "Rebecca L Westbrook, Esther Bridges, Jennie Roberts, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Proline synthesis through PYCR1 is required to support cancer cell proliferation and survival in oxygen-limiting conditions."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Rep (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.celrep.2022.110320"}], "href": "https://doi.org/10.1016/j.celrep.2022.110320"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35108535"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35108535"}]}, {"type": "r", "ref": 21, "children": [{"type": "t", "text": "Borong Zhou, Zhongchao Mai, Ying Ye, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The role of PYCR1 in inhibiting 5-fluorouracil-induced ferroptosis and apoptosis through SLC25A10 in colorectal cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Cell (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s13577-022-00775-5"}], "href": "https://doi.org/10.1007/s13577-022-00775-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "36104652"}], "href": "https://pubmed.ncbi.nlm.nih.gov/36104652"}]}, {"type": "r", "ref": 22, "children": [{"type": "t", "text": "Zhuo Li, Jian Liu, Huifeng Fu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SENP3 affects the expression of PYCR1 to promote bladder cancer proliferation and EMT transformation by deSUMOylation of STAT3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Aging (Albany NY) (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.18632/aging.204333"}], "href": "https://doi.org/10.18632/aging.204333"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "36227136"}], "href": "https://pubmed.ncbi.nlm.nih.gov/36227136"}]}, {"type": "r", "ref": 23, "children": [{"type": "t", "text": "Xianglai Xu, Ying Wang, Xinyu Hu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Effects of PYCR1 on prognosis and immunotherapy plus tyrosine kinase inhibition responsiveness in metastatic renal cell carcinoma patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neoplasia (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neo.2023.100919"}], "href": "https://doi.org/10.1016/j.neo.2023.100919"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37517099"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37517099"}]}, {"type": "r", "ref": 24, "children": [{"type": "t", "text": "Bai Cui, Bin He, Yanping Huang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Pyrroline-5-carboxylate reductase 1 reprograms proline metabolism to drive breast cancer stemness under psychological stress."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Death Dis (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41419-023-06200-5"}], "href": "https://doi.org/10.1038/s41419-023-06200-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37845207"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37845207"}]}, {"type": "r", "ref": 25, "children": [{"type": "t", "text": "Cheng-Liang Kuo, Han-Yu Chou, Yi-Chieh Chiu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mitochondrial oxidative stress by Lon-PYCR1 maintains an immunosuppressive tumor microenvironment that promotes cancer progression and metastasis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Lett (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.canlet.2020.01.019"}], "href": "https://doi.org/10.1016/j.canlet.2020.01.019"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31987921"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31987921"}]}]}]}
Synonyms	PP222, P5CR, ARCL3B, PIG45, PYCR, ARCL2B, PRO3, P5C
Proteins	P5CR1_HUMAN
NCBI Gene ID	5831
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

PYCR1 has 10,969 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 128 datasets.

Click the + buttons to view associations for PYCR1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

PYCR1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of PYCR1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of PYCR1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of PYCR1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of PYCR1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of PYCR1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of PYCR1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of PYCR1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of PYCR1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of PYCR1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of PYCR1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of PYCR1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with PYCR1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with PYCR1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of PYCR1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of PYCR1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of PYCR1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with PYCR1 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with PYCR1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of PYCR1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing PYCR1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing PYCR1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with PYCR1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with PYCR1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of PYCR1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with PYCR1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with PYCR1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with PYCR1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by PYCR1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving PYCR1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with PYCR1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with PYCR1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with PYCR1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with PYCR1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with PYCR1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for PYCR1 protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at PYCR1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of PYCR1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of PYCR1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing PYCR1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of PYCR1 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.