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
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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.