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TYMP (gene)
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<h2 id="structure">Structure</h2> <p>The <i>TYMP</i> gene is located on chromosome 22 in humans and contains 10 exons spanning more than 4.3 kb. </p> <h2 id="function">Function</h2> <p><i>TYMP</i> encodes for the enzyme <a href="/facts/Thymidine_phosphorylase/uQAwpFHw">thymidine phosphorylase</a>. <i>TYMP</i> and thymidine phosphorylase are associated with <a href="/facts/Angiogenesis/h0HF9IUd">angiogenesis</a>, growth of <a href="/facts/Endothelial_cell/L4ENFVnw">endothelial cells</a>, and <a href="/facts/Mitochondrial_neurogastrointestinal_encephalopathy_syndrome/kCsoGgtT">mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)</a>. </p><p>Thymidine phosphorylase is angiogenic <a href="/facts/Growth_factor/D1xnRbcH">growth factor</a> which promotes <a href="/facts/Angiogenesis/h0HF9IUd">angiogenesis</a> in vivo and stimulates the in vitro growth of a variety of endothelial cells. Thymidine phosphorylase has a highly restricted target cell specificity acting only on <a href="/facts/Endothelial_cell/L4ENFVnw">endothelial cells</a>, hence its alternative name of ECGF1. Because it limits glial cell proliferation, thymidine phosphorylase is also known as gliostatin. Thymidine phosphorylase activity in leukocytes from <a href="/facts/Mitochondrial_neurogastrointestinal_encephalopathy_syndrome/kCsoGgtT">mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)</a> patients was less than 5 percent of controls, indicating that loss-of-function mutations in <i>TYMP</i> cause MNGIE.<a class="footnote-ref" id="fnref:4" href="#fn:4"><sup>4</sup></a> </p> <h2 id="interactive-pathway-map">Interactive pathway map</h2> <p><i>Click on genes, proteins and metabolites below to link to respective articles.</i><a class="footnote-ref" id="fnref:5" href="#fn:5"><sup>5</sup></a> </p> <h2 id="further-reading">Further reading</h2> <ul><li>Yang Q, Yoshimura G, Mori I, et al. (2002). "Thymidine phosphorylase and breast carcinoma". <i>Anticancer Res</i>. 22 (4): 2355–60. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12174926">12174926</a>.</li> <li>Asai K, Nakanishi K, Isobe I, et al. (1992). <a href="https://doi.org/10.1016%2FS0021-9258%2819%2988703-3">"Neurotrophic action of gliostatin on cortical neurons. Identity of gliostatin and platelet-derived endothelial cell growth factor"</a>. <i>J. Biol. Chem</i>. 267 (28): 20311–6. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2FS0021-9258%2819%2988703-3">10.1016/S0021-9258(19)88703-3</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/1400349">1400349</a>.</li> <li>Furukawa T, Yoshimura A, Sumizawa T, et al. (1992). <a href="https://doi.org/10.1038%2F356668a0">"Angiogenic factor"</a>. <i>Nature</i>. 356 (6371): 668. <a href="/facts/Bibcode_(identifier)/9HtdQSGB">Bibcode</a>:<a href="https://ui.adsabs.harvard.edu/abs/1992Natur.356..668F">1992Natur.356..668F</a>. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2F356668a0">10.1038/356668a0</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/1570012">1570012</a>.</li> <li>Stenman G, Sahlin P, Dumanski JP, et al. (1992). "Regional localization of the human platelet-derived endothelial cell growth factor (ECGF1) gene to chromosome 22q13". <i>Cytogenet. Cell Genet</i>. 59 (1): 22–3. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1159%2F000133191">10.1159/000133191</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/1733667">1733667</a>.</li> <li>Hagiwara K, Stenman G, Honda H, et al. (1991). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC359900">"Organization and chromosomal localization of the human platelet-derived endothelial cell growth factor gene"</a>. <i>Mol. Cell. Biol</i>. 11 (4): 2125–32. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1128%2FMCB.11.4.2125">10.1128/MCB.11.4.2125</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC359900">359900</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/2005900">2005900</a>.</li> <li>Ishikawa F, Miyazono K, Hellman U, et al. (1989). "Identification of angiogenic activity and the cloning and expression of platelet-derived endothelial cell growth factor". <i>Nature</i>. 338 (6216): 557–62. <a href="/facts/Bibcode_(identifier)/9HtdQSGB">Bibcode</a>:<a href="https://ui.adsabs.harvard.edu/abs/1989Natur.338..557I">1989Natur.338..557I</a>. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2F338557a0">10.1038/338557a0</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/2467210">2467210</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:4337444">4337444</a>.</li> <li>Bardosi A, Creutzfeldt W, DiMauro S, et al. (1987). "Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder". <i>Acta Neuropathol</i>. 74 (3): 248–58. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1007%2FBF00688189">10.1007/BF00688189</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/2823522">2823522</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:20379299">20379299</a>.</li> <li>Miyazono K, Okabe T, Urabe A, et al. (1987). <a href="https://doi.org/10.1016%2FS0021-9258%2818%2961316-X">"Purification and properties of an endothelial cell growth factor from human platelets"</a>. <i>J. Biol. Chem</i>. 262 (9): 4098–103. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2FS0021-9258%2818%2961316-X">10.1016/S0021-9258(18)61316-X</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/3549724">3549724</a>.</li> <li>Usuki K, Gonez LJ, Wernstedt C, et al. (1994). "Structural properties of 3.0 kb and 3.2 kb transcripts encoding platelet-derived endothelial cell growth factor/thymidine phosphorylase in A431 cells". <i>Biochim. Biophys. Acta</i>. 1222 (3): 411–4. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2F0167-4889%2894%2990049-3">10.1016/0167-4889(94)90049-3</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/8038210">8038210</a>.</li> <li>Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". <i>Gene</i>. 138 (1–2): 171–4. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2F0378-1119%2894%2990802-8">10.1016/0378-1119(94)90802-8</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/8125298">8125298</a>.</li> <li>Hirano M, Silvestri G, Blake DM, et al. (1994). "Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder". <i>Neurology</i>. 44 (4): 721–7. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1212%2Fwnl.44.4.721">10.1212/wnl.44.4.721</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/8164833">8164833</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:31980361">31980361</a>.</li> <li>Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". <i>Gene</i>. 200 (1–2): 149–56. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2FS0378-1119%2897%2900411-3">10.1016/S0378-1119(97)00411-3</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/9373149">9373149</a>.</li> <li>Stevenson DP, Milligan SR, Collins WP (1998). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1858429">"Effects of platelet-derived endothelial cell growth factor/thymidine phosphorylase, substrate, and products in a three-dimensional model of angiogenesis"</a>. <i>Am. J. Pathol</i>. 152 (6): 1641–6. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1858429">1858429</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/9626068">9626068</a>.</li> <li>Nishino I, Spinazzola A, Hirano M (1999). "Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder". <i>Science</i>. 283 (5402): 689–92. <a href="/facts/Bibcode_(identifier)/9HtdQSGB">Bibcode</a>:<a href="https://ui.adsabs.harvard.edu/abs/1999Sci...283..689N">1999Sci...283..689N</a>. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1126%2Fscience.283.5402.689">10.1126/science.283.5402.689</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/9924029">9924029</a>.</li> <li>Asgari MM, Haggerty JG, McNiff JM, et al. (1999). "Expression and localization of thymidine phosphorylase/platelet-derived endothelial cell growth factor in skin and cutaneous tumors". <i>J. Cutan. Pathol</i>. 26 (6): 287–94. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1111%2Fj.1600-0560.1999.tb01846.x">10.1111/j.1600-0560.1999.tb01846.x</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/10472757">10472757</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:32158847">32158847</a>.</li> <li>Loftus BJ, Kim UJ, Sneddon VP, et al. (1999). "Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q". <i>Genomics</i>. 60 (3): 295–308. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1006%2Fgeno.1999.5927">10.1006/geno.1999.5927</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/10493829">10493829</a>.</li> <li>Sivridis E, Giatromanolaki A, Koukourakis MI, et al. (2000). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1731246">"Thymidine phosphorylase expression in normal and hyperplastic endometrium"</a>. <i>J. Clin. Pathol</i>. 53 (9): 704–8. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1136%2Fjcp.53.9.704">10.1136/jcp.53.9.704</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1731246">1731246</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11041061">11041061</a>.</li> <li>Komatsu T, Yamazaki H, Shimada N, et al. (2001). "Involvement of microsomal cytochrome P450 and cytosolic thymidine phosphorylase in 5-fluorouracil formation from tegafur in human liver". <i>Clin. Cancer Res</i>. 7 (3): 675–81. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11297264">11297264</a>.</li> <li>Kojima H, Shijubo N, Abe S (2002). "Thymidine phosphorylase and vascular endothelial growth factor in patients with Stage I lung adenocarcinoma". <i>Cancer</i>. 94 (4): 1083–93. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1002%2Fcncr.10352">10.1002/cncr.10352</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11920479">11920479</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:35877612">35877612</a>.</li></ul> <h2 id="external-links">External links</h2> <ul><li><a href="https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mngie">GeneReviews/NIH/NCBI/UW entry on Mitochondrial Neurogastrointestinal Encephalopathy Disease (MNGIE)</a></li></ul> <h2 id="references">References</h2> <ol> <li id="fn:1"><p>Usuki K, Saras J, Waltenberger J, Miyazono K, Pierce G, Thomason A, Heldin CH (Jun 1992). "Platelet-derived endothelial cell growth factor has thymidine phosphorylase activity". Biochem Biophys Res Commun. 184 (3): 1311–6. doi:10.1016/S0006-291X(05)80025-7. PMID 1590793. <a href="/wiki/Doi_(identifier)" target="_blank">/wiki/Doi_(identifier)</a> <a href="#fnref:1" class="footnote-back-ref">↩</a></p></li> <li id="fn:2"><p>Spinazzola A, Marti R, Nishino I, Andreu AL, Naini A, Tadesse S, Pela I, Zammarchi E, Donati MA, Oliver JA, Hirano M (Feb 2002). "Altered thymidine metabolism due to defects of thymidine phosphorylase". J Biol Chem. 277 (6): 4128–33. doi:10.1074/jbc.M111028200. PMID 11733540. <a href="https://doi.org/10.1074%2Fjbc.M111028200" target="_blank">https://doi.org/10.1074%2Fjbc.M111028200</a> <a href="#fnref:2" class="footnote-back-ref">↩</a></p></li> <li id="fn:3"><p>"Gene symbol report | HUGO Gene Nomenclature Committee". <a href="https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3148" target="_blank">https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3148</a> <a href="#fnref:3" class="footnote-back-ref">↩</a></p></li> <li id="fn:4"><p>"Entrez Gene: ECGF1 endothelial cell growth factor 1 (platelet-derived)". <a href="https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1890" target="_blank">https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1890</a> <a href="#fnref:4" class="footnote-back-ref">↩</a></p></li> <li id="fn:5"><p>The interactive pathway map can be edited at WikiPathways: "FluoropyrimidineActivity_WP1601". <a href="http://www.wikipathways.org/index.php/Pathway:WP1601" target="_blank">http://www.wikipathways.org/index.php/Pathway:WP1601</a> <a href="#fnref:5" class="footnote-back-ref">↩</a></p></li> </ol>