The protein encoded by this gene is an epimerase required for biosynthesis of dermatan sulfate[10] and a tumor-rejection antigen. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. This gene product is localized to the endoplasmic reticulum. Two transcript variants encoding the same protein have been found for this gene.[7]
^Sasatomi T, Suefuji Y, Matsunaga K, Yamana H, Miyagi Y, Araki Y, Ogata Y, Itoh K, Shirouzu K (March 2002). "Expression of tumor rejection antigens in colorectal carcinomas". Cancer. 94 (6): 1636–41. doi:10.1002/cncr.10421. PMID 11920522. S2CID 33045822.
^Maccarana M, Olander B, Malmström J, Tiedemann K, Aebersold R, Lindahl U, Li JP, Malmström A (April 2006). "Biosynthesis of dermatan sulfate: chondroitin-glucuronate C5-epimerase is identical to SART2". J. Biol. Chem. 281 (17): 11560–8. doi:10.1074/jbc.M513373200. PMID 16505484.
^Malstrom, Anders (1982). "Biosynthesis of dermatan sulphate: Assay and properties of the uronosyl C-5 epimerase". Biochem. J. 201 (3): 489–93. doi:10.1042/bj2010489. PMC1163673. PMID 7092807.
Further readingEdit
Nakao M, Shichijo S, Imaizumi T, et al. (2000). "Identification of a gene coding for a new squamous cell carcinoma antigen recognized by the CTL". J. Immunol. 164 (5): 2565–74. doi:10.4049/jimmunol.164.5.2565. PMID 10679095.
Tanaka S, Tsuda N, Kawano K, et al. (2001). "Expression of tumor-rejection antigens in gynecologic cancers". Jpn. J. Cancer Res. 91 (11): 1177–84. doi:10.1111/j.1349-7006.2000.tb00902.x. PMC5926290. PMID 11092984.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC139241. PMID 12477932.
Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. Bibcode:2003Natur.425..805M. doi:10.1038/nature02055. PMID 14574404.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC528928. PMID 15489334.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC1356129. PMID 16344560.
This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by expanding it.
gene, dermatan, sulfate, epimerase, enzyme, that, humans, encoded, gene, dseidentifiersaliasesdse, dsep, dsepi, edsmc2, sart, sart2, epi1, dermatan, sulfate, epimeraseexternal, idsomim, 605942, 2443455, homologene, 8354, genecards, dsegene, location, human, ch. Dermatan sulfate epimerase is an enzyme that in humans is encoded by the DSE gene 5 6 7 8 9 DSEIdentifiersAliasesDSE DSEP DSEPI EDSMC2 SART 2 SART2 DS epi1 dermatan sulfate epimeraseExternal IDsOMIM 605942 MGI 2443455 HomoloGene 8354 GeneCards DSEGene location Human Chr Chromosome 6 human 1 Band6q22 1Start116 254 173 bp 1 End116 444 861 bp 1 Gene location Mouse Chr Chromosome 10 mouse 2 Band10 10 B1Start34 027 389 bp 2 End34 083 711 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inparietal pleuraAchilles tendongerminal epitheliumpericardiumsynovial jointvisceral pleurasynovial membraneright lungadipose tissuetibiaTop expressed inhanddermisintercostal muscleabdominal wallcalvariavas deferenswhite adipose tissuefootsubcutaneous adipose tissuepineal glandMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionisomerase activity chondroitin glucuronate 5 epimerase activityCellular componentintegral component of membrane Golgi membrane Golgi apparatus endoplasmic reticulum membrane nucleoplasm cytosolBiological processchondroitin sulfate biosynthetic process heparan sulfate proteoglycan biosynthetic process dermatan sulfate biosynthetic processSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez29940212898EnsemblENSG00000111817ENSMUSG00000039497UniProtQ9UL01Q8BLI4RefSeq mRNA NM 001080976NM 001322937NM 001322938NM 001322939NM 001322940NM 001322941NM 001322943NM 001322944NM 013352NM 001374520NM 001374521NM 001374522NM 172508RefSeq protein NP 001074445NP 001309866NP 001309867NP 001309868NP 001309869NP 001309870NP 001309872NP 001309873NP 037484NP 001361449NP 001361450NP 001361451NP 766096Location UCSC Chr 6 116 25 116 44 MbChr 10 34 03 34 08 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseThe protein encoded by this gene is an epimerase required for biosynthesis of dermatan sulfate 10 and a tumor rejection antigen This antigen possesses tumor epitopes capable of inducing HLA A24 restricted and tumor specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy This gene product is localized to the endoplasmic reticulum Two transcript variants encoding the same protein have been found for this gene 7 Clinical significance EditEhlers Danlos syndrome Musculocontractural type is associated with mutations in the DSE gene References Edit a b c GRCh38 Ensembl release 89 ENSG00000111817 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000039497 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Sasatomi T Suefuji Y Matsunaga K Yamana H Miyagi Y Araki Y Ogata Y Itoh K Shirouzu K Mar 2002 Expression of tumor rejection antigens in colorectal carcinomas Cancer 94 6 1636 41 doi 10 1002 cncr 10421 PMID 11920522 S2CID 33045822 Maccarana M Olander B Malmstrom J Tiedemann K Aebersold R Lindahl U Li JP Malmstrom A Apr 2006 Biosynthesis of dermatan sulfate chondroitin glucuronate C5 epimerase is identical to SART2 J Biol Chem 281 17 11560 8 doi 10 1074 jbc M513373200 PMID 16505484 a b Entrez Gene DSE dermatan sulfate epimerase Sasatomi T Suefuji Y Matsunaga K Yamana H Miyagi Y Araki Y Ogata Y Itoh K Shirouzu K March 2002 Expression of tumor rejection antigens in colorectal carcinomas Cancer 94 6 1636 41 doi 10 1002 cncr 10421 PMID 11920522 S2CID 33045822 Maccarana M Olander B Malmstrom J Tiedemann K Aebersold R Lindahl U Li JP Malmstrom A April 2006 Biosynthesis of dermatan sulfate chondroitin glucuronate C5 epimerase is identical to SART2 J Biol Chem 281 17 11560 8 doi 10 1074 jbc M513373200 PMID 16505484 Malstrom Anders 1982 Biosynthesis of dermatan sulphate Assay and properties of the uronosyl C 5 epimerase Biochem J 201 3 489 93 doi 10 1042 bj2010489 PMC 1163673 PMID 7092807 Further reading EditNakao M Shichijo S Imaizumi T et al 2000 Identification of a gene coding for a new squamous cell carcinoma antigen recognized by the CTL J Immunol 164 5 2565 74 doi 10 4049 jimmunol 164 5 2565 PMID 10679095 Tanaka S Tsuda N Kawano K et al 2001 Expression of tumor rejection antigens in gynecologic cancers Jpn J Cancer Res 91 11 1177 84 doi 10 1111 j 1349 7006 2000 tb00902 x PMC 5926290 PMID 11092984 Strausberg RL Feingold EA Grouse LH et al 2003 Generation and initial analysis of more than 15 000 full length human and mouse cDNA sequences Proc Natl Acad Sci U S A 99 26 16899 903 Bibcode 2002PNAS 9916899M doi 10 1073 pnas 242603899 PMC 139241 PMID 12477932 Mungall AJ Palmer SA Sims SK et al 2003 The DNA sequence and analysis of human chromosome 6 Nature 425 6960 805 11 Bibcode 2003Natur 425 805M doi 10 1038 nature02055 PMID 14574404 Ota T Suzuki Y Nishikawa T et al 2004 Complete sequencing and characterization of 21 243 full length human cDNAs Nat Genet 36 1 40 5 doi 10 1038 ng1285 PMID 14702039 Gerhard DS Wagner L Feingold EA et al 2004 The Status Quality and Expansion of the NIH Full Length cDNA Project The Mammalian Gene Collection MGC Genome Res 14 10B 2121 7 doi 10 1101 gr 2596504 PMC 528928 PMID 15489334 Kimura K Wakamatsu A Suzuki Y et al 2006 Diversification of transcriptional modulation Large scale identification and characterization of putative alternative promoters of human genes Genome Res 16 1 55 65 doi 10 1101 gr 4039406 PMC 1356129 PMID 16344560 nbsp This article on a gene on human chromosome 6 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title DSE gene amp oldid 1142703032, wikipedia, wiki, book, books, library,
