InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DSE

Summary

InnateDB Protein

IDBP-95664.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DSE

Protein Name

dermatan sulfate epimerase

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000352567

InnateDB Gene

IDBG-95662 (DSE)

Protein Structure

UniProt Annotation

Function

Converts D-glucuronic acid to L-iduronic acid (IdoUA) residues. {ECO:0000269PubMed:16505484}.

Subcellular Localization

Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.

Disease Associations

Ehlers-Danlos syndrome, musculocontractural type 2 (EDSMC2) [MIM:615539]: A form of Ehlers-Danlos syndrome characterized by progressive multisystem manifestations, including joint dislocations and deformities, skin hyperextensibility, skin bruisability and fragility with recurrent large subcutaneous hematomas, cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications. Motor developmental delay is associated with muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood. {ECO:0000269PubMed:23704329}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitously expressed with higher expression in kidney and ovary and lower expression in brain, colon and thymus. Also expressed in renal cell carcinomas, brain tumors, and in a part of melanomas and adenocarcinomas from organs other than the breast. Expressed in squamous cell carcinomas (SCC), glioma, and some adenocarcinoma cell lines, but not in breast cancer cell lines or any normal tissues (at protein level). {ECO:0000269PubMed:10679095}.

Comments

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