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DSE (NM_013352) - dermatan sulfate epimerase

Dermatan-Sulfate Epimerase Isoform A Precursor

PTM Interaction Network Visualisation

Protein summary

This is preferred isoform of DSE protein. View all 2 isoforms
DSE: dermatan-sulfate epimerase isoform a precursor
Description:

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
9.6% of sequence is predicted to be disordered

Usage summary

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Kinase, PTM site or protein

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 29940
UniProt
Ensembl