InnateDB Protein
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IDBP-386333.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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DSE
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Protein Name
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dermatan sulfate epimerase
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000397597
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InnateDB Gene
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IDBG-95662 (DSE)
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Protein Structure
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Function |
Converts D-glucuronic acid to L-iduronic acid (IdoUA) residues. {ECO:0000269PubMed:16505484}.
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Subcellular Localization |
Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
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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.
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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}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
3
[view]
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Protein-Protein |
3
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
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PhosphoSite |
PhosphoSite-Q9UL01
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TrEMBL |
X6REM1
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UniProt Splice Variant |
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Entrez Gene |
29940
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UniGene |
Hs.740115
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RefSeq |
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HUGO |
HGNC:21144
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OMIM |
605942
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CCDS |
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HPRD |
05807
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IMGT |
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EMBL |
AL050331
AL590542
Z84488
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GenPept |
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