DSE - dermatan sulfate epimerase Gene
Also Known as DSEP; DSEPI; SART2; EDSMC2; SART-2; DS-epi1
Species: Homo sapiens (human)
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]
DSE Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_001322941.2 | NP_001309870.1 | dermatan-sulfate epimerase isoform c |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables chondroitin-glucuronate 5-epimerase activity |
IDA
IDA: Inferred from direct assay
|
16505484 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in dermatan sulfate biosynthetic process |
IDA
IDA: Inferred from direct assay
|
16505484 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in Golgi apparatus |
IDA
IDA: Inferred from direct assay
|
10679095 | GOA |
| located in endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
10679095 | GOA |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
dermatan-sulfate epimerase |
|
|