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DSE dermatan sulfate epimerase [ Homo sapiens (human) ]

Gene ID: 29940, updated on 21-Oct-2014
Official Symbol
DSEprovided by HGNC
Official Full Name
dermatan sulfate epimeraseprovided by HGNC
Primary source
HGNC:HGNC:21144
See related
Ensembl:ENSG00000111817; HPRD:05807; MIM:605942; Vega:OTTHUMG00000015434
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DSEP; DSEPI; SART2; EDSMC2; SART-2
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]
Location:
6q22
Exon count:
8
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 6 NC_000006.12 (116280120..116441259)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (116601231..116762422)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein S5 pseudogene Neighboring gene ribosomal protein S5 pseudogene 1 Neighboring gene TSPY-like 1 Neighboring gene uncharacterized LOC100287467 Neighboring gene keratin 18 pseudogene 22 Neighboring gene chromobox homolog 3 pseudogene 9

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Chondroitin sulfate/dermatan sulfate metabolism, organism-specific biosystem (from REACTOME)
    Chondroitin sulfate/dermatan sulfate metabolism, organism-specific biosystemChondroitin sulfate (CS) is a sulfated glycosaminoglycan (GAG). CS chains are unbranched polysaccharides of varying length containing two alternating monosaccharides: D-glucuronic acid (GlcA) and N-a...
  • Dermatan sulfate biosynthesis, organism-specific biosystem (from REACTOME)
    Dermatan sulfate biosynthesis, organism-specific biosystemDermatan sulfate (DS) consists of N-acetylgalactosamine (GalNAc) residues alternating in glycosidic linkages with glucuronic acid (GlcA) or iduronic acid (IdoA) residues. As with CS, GalNAc residues ...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Glycogen storage diseases, organism-specific biosystem (from REACTOME)
    Glycogen storage diseases, organism-specific biosystemThe regulated turnover of glycogen plays a central, tissue-specific role in the maintenance of blood glucose levels and in the provision of glucose to tissues such as muscle and brain in response to ...
  • Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate, organism-specific biosystem (from KEGG)
    Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate, organism-specific biosystemGlycosaminoglycans (GAGs) are linear polysaccharide chains consisting of repeating disaccharide units and form proteglycans by covalently attaching to their core proteins. Chondroitin sulfate (CS) is...
  • Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate, conserved biosystem (from KEGG)
    Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate, conserved biosystemGlycosaminoglycans (GAGs) are linear polysaccharide chains consisting of repeating disaccharide units and form proteglycans by covalently attaching to their core proteins. Chondroitin sulfate (CS) is...
  • Glycosaminoglycan metabolism, organism-specific biosystem (from REACTOME)
    Glycosaminoglycan metabolism, organism-specific biosystemGlycosaminoglycans (GAGs) are long, unbranched polysaccharides containing a repeating disaccharide unit composed of a hexosamine (either N-acetylgalactosamine (GalNAc) or N-acetylglucosamine (GlcNAc)...
  • MPS I - Hurler syndrome, organism-specific biosystem (from REACTOME)
    MPS I - Hurler syndrome, organism-specific biosystemMucopolysaccharidosis type I (MPS I, Hurler syndrome, Hurler's disease, gargoylism, Scheie, Hirler-Scheie syndrome; MIM:607014, 607015 and 607016) is an autosomal recessive genetic disorder where th...
  • MPS II - Hunter syndrome, organism-specific biosystem (from REACTOME)
    MPS II - Hunter syndrome, organism-specific biosystemMucopolysaccharidosis II (MPS II, Hunter syndrome, MIM:309900) is an X-linked, recessive genetic disorder which therefore primarily affects males. MPS II was first described in 1917, by Major Charles...
  • MPS IIIA - Sanfilippo syndrome A, organism-specific biosystem (from REACTOME)
    MPS IIIA - Sanfilippo syndrome A, organism-specific biosystemMucopolysaccharidosis III (MPS III, Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837-838, 1963, no reference). Mucopolysaccharidosis IIIA (M...
  • MPS IIIB - Sanfilippo syndrome B, organism-specific biosystem (from REACTOME)
    MPS IIIB - Sanfilippo syndrome B, organism-specific biosystemMucopolysaccharidosis III (Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837838, 1963, no reference). MPS IIIB (Mucopolysaccharidosis type II...
  • MPS IIIC - Sanfilippo syndrome C, organism-specific biosystem (from REACTOME)
    MPS IIIC - Sanfilippo syndrome C, organism-specific biosystemMucopolysaccharidosis III (Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837838, 1963, no reference). Mucopolysaccharidosis type IIIC (MPS II...
  • MPS IIID - Sanfilippo syndrome D, organism-specific biosystem (from REACTOME)
    MPS IIID - Sanfilippo syndrome D, organism-specific biosystemMucopolysaccharidosis III (Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837-838, 1963, no reference). Mucopolysaccharidosis type IIID (MPS I...
  • MPS IV - Morquio syndrome A, organism-specific biosystem (from REACTOME)
    MPS IV - Morquio syndrome A, organism-specific biosystemMucopolysaccharidosis IV A (MPS IVA, MPS4A, Morquio's syndrome, Morquio's; MIM:253000) is a rare, autosomal recessive mucopolysaccharide storage disease, first described simultaneously in 1929 by L M...
  • MPS IV - Morquio syndrome B, organism-specific biosystem (from REACTOME)
    MPS IV - Morquio syndrome B, organism-specific biosystemDefects in beta-galactosidase (GLB1; MIM:611458) can result in GM1 gangliosidosis (GM1; MIM:230500) (Nishimoto et al. 1991) (not described here), with several phenotypes indicating mental deteriorati...
  • MPS IX - Natowicz syndrome, organism-specific biosystem (from REACTOME)
    MPS IX - Natowicz syndrome, organism-specific biosystemMucopolysaccharidosis type IX (MPS IX, Natowicz syndrome, Hyaluronidase deficiency, MIM:601492) is a rare lysosomal storage disease characterized by high hyaluronan (HA) concentration in the serum re...
  • MPS VI - Maroteaux-Lamy syndrome, organism-specific biosystem (from REACTOME)
    MPS VI - Maroteaux-Lamy syndrome, organism-specific biosystemMucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome, polydystrophic dwarfism; MIM:253200) is an autosomal recessive lysosomal storage disorder caused by a deficiency in arylsulfatase B (AR...
  • MPS VII - Sly syndrome, organism-specific biosystem (from REACTOME)
    MPS VII - Sly syndrome, organism-specific biosystemMucopolysaccharidosis type VII (MPS VII, Sly syndrome, beta-glucuronidase deficiency; MIM:253220) is an autosomal recessive lysosomal storage disease characterized by a deficiency of the enzyme beta-...
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
  • Mucopolysaccharidoses, organism-specific biosystem (from REACTOME)
    Mucopolysaccharidoses, organism-specific biosystemThe mucopolysaccharidoses (MPS) are a group of rare, inherited lysosomal storage disorders caused by deficiencies of enzymes catalyzing the stepwise degradation of glycosaminoglycans (GAGs, originall...
  • Myoclonic epilepsy of Lafora, organism-specific biosystem (from REACTOME)
    Myoclonic epilepsy of Lafora, organism-specific biosystemLafora disease is a progressive neurodegenerative disorder with onset typically late in childhood, characterized by seizures and progressive neurological deterioration and death within ten years of o...
  • dermatan sulfate biosynthesis, organism-specific biosystem (from BIOCYC)
    dermatan sulfate biosynthesis, organism-specific biosystem
    dermatan sulfate biosynthesis
  • dermatan sulfate biosynthesis, conserved biosystem (from BIOCYC)
    dermatan sulfate biosynthesis, conserved biosystem|FRAME: Dermatan-Sulfate "Dermatan sulfate"| is a sulfated |FRAME: Glycosaminoglycans "glycosaminoglycan"| composed of alternating units of sulfated |FRAME: CPD-3604| and |FRAME: CPD-12515| (and some...
  • dermatan sulfate biosynthesis (late stages), organism-specific biosystem (from BIOCYC)
    dermatan sulfate biosynthesis (late stages), organism-specific biosystemGeneral Background : Dermatan-Sulfate "Dermatan sulfate" is a sulfated : Glycosaminoglycans "glycosaminoglycan" composed of alternating units of sulfated : CPD-3604 N-acetyl-alpha-D-galactosamine an...
  • dermatan sulfate biosynthesis (late stages), conserved biosystem (from BIOCYC)
    dermatan sulfate biosynthesis (late stages), conserved biosystemGeneral Background |FRAME: Dermatan-Sulfate "Dermatan sulfate"| is a sulfated |FRAME: Glycosaminoglycans "glycosaminoglycan"| composed of alternating units of sulfated |FRAME: CPD-3604| and |FRAME: ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
chondroitin-glucuronate 5-epimerase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
carbohydrate metabolic process TAS
Traceable Author Statement
more info
 
chondroitin sulfate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
chondroitin sulfate metabolic process TAS
Traceable Author Statement
more info
 
dermatan sulfate biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
dermatan sulfate biosynthetic process TAS
Traceable Author Statement
more info
 
glycosaminoglycan metabolic process TAS
Traceable Author Statement
more info
 
heparan sulfate proteoglycan biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane TAS
Traceable Author Statement
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
dermatan-sulfate epimerase
Names
dermatan-sulfate epimerase
DS epimerase
chondroitin-glucuronate 5-epimerase
squamous cell carcinoma antigen recognized by T-cells 2
NP_001074445.1
NP_037484.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033266.1 

    Range
    5001..163160
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001080976.1NP_001074445.1  dermatan-sulfate epimerase precursor

    See proteins identical to NP_001074445.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AF098066, BC039245
    Consensus CDS
    CCDS5107.1
    UniProtKB/Swiss-Prot
    Q9UL01
  2. NM_013352.2NP_037484.1  dermatan-sulfate epimerase precursor

    See proteins identical to NP_037484.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AF098066, DB282412
    Consensus CDS
    CCDS5107.1
    UniProtKB/Swiss-Prot
    Q9UL01
    Related
    ENSP00000352567, ENST00000359564

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 

    Range
    116280120..116441259
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005266953.1XP_005267010.1  

    See proteins identical to XP_005267010.1

    UniProtKB/Swiss-Prot
    Q9UL01
    Related
    ENSP00000404049, OTTHUMP00000017060, ENST00000452085, OTTHUMT00000041941

Alternate HuRef

Genomic

  1. AC_000138.1 

    Range
    114181450..114339311
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 

    Range
    116865191..117023085
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)