DSE (NM_013352) - dermatan sulfate epimerase
Dermatan-Sulfate Epimerase Isoform A Precursor
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Protein
Kinases
Sites
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PTM Interaction Network Visualisation
Protein summary
The protein encoded by this gene is a tumor-rejection antigen. It is localized to the endoplasmic reticulum and functions to convert D-glucuronic acid to L-iduronic acid during the biosynthesis of dermatan sulfate. 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. Mutations in this gene cause inmusculocontractural Ehlers-Danlos syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 9, and a paralogous gene exists on chromosome 18. [provided by RefSeq, Apr 2016].
- Strand
- +
- Chromosome
- 6
- Protein
- 958 residues
- All mutations
- 159
- PTM sites
- 9
- CDS
- 116,720,413 - 116,758,508
- Transcription
- 116,692,109 - 116,759,442
Usage summary
Network
PTM site
Kinases group
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Kinase, PTM site or protein
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External references
- Entrez
- gene: 29940
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UniProt