Human Gene DSE (ENST00000644252.3_5) from GENCODE V47lift37
  Description: dermatan sulfate epimerase, transcript variant 1 (from RefSeq NM_013352.4)
Gencode Transcript: ENST00000644252.3_5
Gencode Gene: ENSG00000111817.19_17
Transcript (Including UTRs)
   Position: hg19 chr6:116,692,110-116,766,024 Size: 73,915 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr6:116,720,414-116,758,508 Size: 38,095 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:116,692,110-116,766,024)mRNA (may differ from genome)Protein (958 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DSE_HUMAN
DESCRIPTION: RecName: Full=Dermatan-sulfate epimerase; Short=DS epimerase; EC=5.1.3.19; AltName: Full=Chondroitin-glucuronate 5-epimerase; AltName: Full=Squamous cell carcinoma antigen recognized by T-cells 2; Short=SART-2; Flags: Precursor;
FUNCTION: Converts D-glucuronic acid to L-iduronic acid (IdoUA) residues.
CATALYTIC ACTIVITY: Chondroitin D-glucuronate = dermatan L- iduronate.
PATHWAY: Glycan metabolism; chondroitin sulfate biosynthesis.
PATHWAY: Glycan metabolism; heparan sulfate biosynthesis.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).
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).
SIMILARITY: Belongs to the dermatan-sulfate isomerase family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DSE
Diseases sorted by gene-association score: ehlers-danlos syndrome, musculocontractural type 2* (1380), musculocontractural ehlers-danlos syndrome* (261), esophagus squamous cell carcinoma (22), ehlers-danlos syndrome (18), anisometropia (12), amblyopia (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -106.30228-0.466 Picture PostScript Text
3' UTR -1940.407516-0.258 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF16332 - Domain of unknown function (DUF4962)

SCOP Domains:
48230 - Chondroitin AC/alginate lyase

ModBase Predicted Comparative 3D Structure on Q9UL01
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0016853 isomerase activity
GO:0047757 chondroitin-glucuronate 5-epimerase activity

Biological Process:
GO:0015012 heparan sulfate proteoglycan biosynthetic process
GO:0030206 chondroitin sulfate biosynthetic process
GO:0030208 dermatan sulfate biosynthetic process

Cellular Component:
GO:0000139 Golgi membrane
GO:0005654 nucleoplasm
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK293872 - Homo sapiens cDNA FLJ59186 complete cds.
AK095123 - Homo sapiens cDNA FLJ37804 fis, clone BRSSN2001213, highly similar to Homo sapiens squamous cell carcinoma antigen recognized by T cell (SART-2) mRNA.
BC039245 - Homo sapiens dermatan sulfate epimerase, mRNA (cDNA clone MGC:33055 IMAGE:5272885), complete cds.
FW339971 - Screening.
AK301513 - Homo sapiens cDNA FLJ56258 complete cds, highly similar to Squamous cell carcinoma antigen recognized by T-cells 2 precursor.
AF098066 - Homo sapiens squamous cell carcinoma antigen recognized by T cell (SART-2) mRNA, complete cds.
JD192796 - Sequence 173820 from Patent EP1572962.
JD056378 - Sequence 37402 from Patent EP1572962.
DQ894447 - Synthetic construct Homo sapiens clone IMAGE:100008907; FLH170515.01L; RZPDo839G0397D squamous cell carcinoma antigen recognized by T cells 2 (SART2) gene, encodes complete protein.
DQ891261 - Synthetic construct clone IMAGE:100003891; FLH170519.01X; RZPDo839G0398D squamous cell carcinoma antigen recognized by T cells 2 (SART2) gene, encodes complete protein.
CU691690 - Synthetic construct Homo sapiens gateway clone IMAGE:100017857 5' read DSE mRNA.
KJ893719 - Synthetic construct Homo sapiens clone ccsbBroadEn_03113 DSE gene, encodes complete protein.
AK128607 - Homo sapiens cDNA FLJ46766 fis, clone TRACH3024671, highly similar to Squamous cell carcinoma antigen recognized by T-cells 2 precursor.
AL832471 - Homo sapiens mRNA; cDNA DKFZp313J1221 (from clone DKFZp313J1221).
DQ573767 - Homo sapiens piRNA piR-41879, complete sequence.
JD367389 - Sequence 348413 from Patent EP1572962.
JD061585 - Sequence 42609 from Patent EP1572962.
JD245859 - Sequence 226883 from Patent EP1572962.
JD551786 - Sequence 532810 from Patent EP1572962.
JD349708 - Sequence 330732 from Patent EP1572962.
JD359225 - Sequence 340249 from Patent EP1572962.
JD074203 - Sequence 55227 from Patent EP1572962.
JD297194 - Sequence 278218 from Patent EP1572962.
JD355163 - Sequence 336187 from Patent EP1572962.
JD445092 - Sequence 426116 from Patent EP1572962.
JD444127 - Sequence 425151 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-6568 - dermatan sulfate biosynthesis (late stages)
PWY-6571 - dermatan sulfate biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein Q9UL01 (Reactome details) participates in the following event(s):

R-HSA-2022052 Dermatan-sulfate epimerase (DSE) converts chondroitin sulfate (CS) to dermatan sulfate (DS)
R-HSA-2022923 Dermatan sulfate biosynthesis
R-HSA-1793185 Chondroitin sulfate/dermatan sulfate metabolism
R-HSA-1630316 Glycosaminoglycan metabolism
R-HSA-71387 Metabolism of carbohydrates
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: DSE_HUMAN, ENST00000644252.1, ENST00000644252.2, NM_013352, Q5R3K6, Q9UL01, SART2, uc328kln.1, uc328kln.2
UCSC ID: ENST00000644252.3_5
RefSeq Accession: NM_013352.4
Protein: Q9UL01 (aka DSE_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.