1. Gene
  2. DSE - dermatan sulfate epimerase Gene

DSE - dermatan sulfate epimerase Gene

Homo sapiens (human)

Also known as DSEP; DSEPI; SART2; EDSMC2; SART-2; DS-epi1

Gene ID: 29940 | Gene type: protein coding

About DSE

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables chondroitin-glucuronate 5-epimerase activity IDA
IDA: Inferred from direct assay
16505484 GOA
Biological Process GO Annotation Evidence Reference Source
involved in dermatan sulfate biosynthetic process IDA
IDA: Inferred from direct assay
16505484 GOA
Cellular Component GO Annotation Evidence Reference 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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

dermatan-sulfate epimerase

DS epimerase

chondroitin-glucuronate 5-epimerase

squamous cell carcinoma antigen recognized by T-cells 2