DSE (gene)

Dermatan-sulfate epimerase is an enzyme that in humans is encoded by the DSE gene.^{[5][6][7][8][9]}

DSE
Identifiers
Aliases	DSE, DSEP, DSEPI, EDSMC2, SART-2, SART2, DS-epi1, dermatan sulfate epimerase
External IDs	OMIM: 605942; MGI: 2443455; HomoloGene: 8354; GeneCards: DSE; OMA:DSE - orthologs
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6q22.1 Start 116,254,173 bp[1] End 116,444,861 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10|10 B1 Start 34,027,389 bp[2] End 34,083,711 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in parietal pleura Achilles tendon germinal epithelium cartilage tissue pericardium synovial joint visceral pleura synovial membrane Epithelium of choroid plexus right lung Top expressed in hand stroma of bone marrow decidua dermis intercostal muscle Gonadal ridge lumbar spinal ganglion abdominal wall calvaria mesenteric lymph nodes More reference expression data BioGPS More reference expression data
Gene ontology Molecular function isomerase activity chondroitin-glucuronate 5-epimerase activity Cellular component integral component of membrane Golgi membrane Golgi apparatus endoplasmic reticulum membrane nucleoplasm cytosol Biological process chondroitin sulfate biosynthetic process heparan sulfate proteoglycan biosynthetic process dermatan sulfate biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 29940 212898 Ensembl ENSG00000111817 ENSMUSG00000039497 UniProt Q9UL01 Q8BLI4 RefSeq (mRNA) NM_001080976 NM_001322937 NM_001322938 NM_001322939 NM_001322940 NM_001322941 NM_001322943 NM_001322944 NM_013352 NM_001374520 NM_001374521 NM_001374522 NM_172508 RefSeq (protein) NP_001074445 NP_001309866 NP_001309867 NP_001309868 NP_001309869 NP_001309870 NP_001309872 NP_001309873 NP_037484 NP_001361449 NP_001361450 NP_001361451 NP_766096 Location (UCSC) Chr 6: 116.25 – 116.44 Mb Chr 10: 34.03 – 34.08 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]

Clinical significance

• Ehlers-Danlos syndrome Musculocontractural type is associated with mutations in the DSE gene.

References

1. GRCh38: Ensembl release 89: ENSG00000111817 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000039497 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. "Entrez Gene: DSE dermatan sulfate epimerase".
8. 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.
9. 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.
10. 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

• 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. 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.