DSE (gene)

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
Gene location (Human)
Chr.	Chromosome 6 (human)
End	116,444,861 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	34,083,711 bp
RNA expression pattern
	Top expressed in
	parietal pleura; ; Achilles tendon; ; germinal epithelium; ; pericardium; ; synovial joint; ; visceral pleura; ; synovial membrane; ; right lung; ; adipose tissue; ; tibia;
	Top expressed in
	hand; ; dermis; ; intercostal muscle; ; abdominal wall; ; calvaria; ; vas deferens; ; white adipose tissue; ; foot; ; subcutaneous adipose tissue; ; pineal gland;
	More reference expression data
	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
	29940
	212898
	ENSG00000111817
	ENSMUSG00000039497
	Q9UL01
	Q8BLI4
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
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
	Wikidata
View/Edit Human	View/Edit Mouse

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

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 2 3 GRCh38: Ensembl release 89: ENSG00000111817 - Ensembl, May 2017
1 2 3 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.
1 2 "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, 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. PMC 1163673. PMID 7092807.

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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000111817 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid11920522-5] 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.

[pmid16505484-6] 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.

[entrez-7] 1 2 "Entrez Gene: DSE dermatan sulfate epimerase".

[autogenerated2-8] 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.

[autogenerated1-9] 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.

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Clinical significance

References

Further reading