Homo sapiens Gene: DSE
Summary
InnateDB Gene IDBG-95662.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DSE
Gene Name dermatan sulfate epimerase
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000111817
Encoded Proteins
dermatan sulfate epimerase
dermatan sulfate epimerase
dermatan sulfate epimerase
dermatan sulfate epimerase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is 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. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:116254173-116441261
Strand Forward strand
Band q22.1
Transcripts
ENST00000359564 ENSP00000352567
ENST00000331677 ENSP00000332151
ENST00000452085 ENSP00000404049
ENST00000430252 ENSP00000397597
ENST00000607094
ENST00000606265
ENST00000606712
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0047757 chondroitin-glucuronate 5-epimerase activity
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0015012 heparan sulfate proteoglycan biosynthetic process
GO:0030203 glycosaminoglycan metabolic process
GO:0030204 chondroitin sulfate metabolic process
GO:0030206 chondroitin sulfate biosynthetic process
GO:0030208 dermatan sulfate biosynthetic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0000139 Golgi membrane
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Mucopolysaccharidoses pathway
Myoclonic epilepsy of Lafora pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective PAPSS2 causes SEMD-PA pathway
Metabolism of carbohydrates pathway
MPS IIID - Sanfilippo syndrome D pathway
Defective SLC26A2 causes chondrodysplasias pathway
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Defective CHST14 causes EDS, musculocontractural type pathway
MPS IV - Morquio syndrome B pathway
Defective B3GAT3 causes JDSSDHD pathway
Dermatan sulfate biosynthesis pathway
Defective CHST3 causes SEDCJD pathway
MPS IV - Morquio syndrome A pathway
Defective EXT2 causes exostoses 2 pathway
Diseases associated with glycosaminoglycan metabolism pathway
MPS II - Hunter syndrome pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
Glycosaminoglycan metabolism pathway
Diseases of glycosylation pathway
Chondroitin sulfate/dermatan sulfate metabolism pathway
MPS VII - Sly syndrome pathway
Defective CHSY1 causes TPBS pathway
Metabolism pathway
MPS I - Hurler syndrome pathway
MPS IIIA - Sanfilippo syndrome A pathway
MPS IIIC - Sanfilippo syndrome C pathway
Disease pathway
Glycogen storage diseases pathway
MPS IIIB - Sanfilippo syndrome B pathway
KEGG
Glycosaminoglycan biosynthesis pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q9UL01
TrEMBL B3KY37 B7Z765 X6REM1
UniProt Splice Variant
Entrez Gene 29940
UniGene Hs.611694 Hs.694548 Hs.740115
RefSeq NM_001080976 NM_013352 XM_005266953
HUGO HGNC:21144
OMIM 605942
CCDS CCDS5107
HPRD 05807
IMGT
EMBL AF098066 AK128607 AK301513 AL050331 AL590542 BC039245 Z84488
GenPept AAF00087 AAH39245 BAG54699 BAH13501 CAI23407 CAI23408
RNA Seq Atlas 29940