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dermatan sulfate epimerase

Summary

Gene Symbol

Aliases

DS-Epi1
DSEPI

Organism

Homo sapiens (human)

External Links

NCBI Gene

29940

HGNC

21144

KEGG Gene ID

hsa:29940

PubChem

29940

Alliance of Genome Resources

HGNC:21144

Annotation

Keyword

3D-structure
Cytoplasmic vesicle
Disease variant
Ehlers-Danlos syndrome
Glycoprotein
Golgi apparatus
Isomerase
Manganese
Metal-binding
Microsome
Reference proteome
Signal
Transmembrane helix

Proteins

Displaying **all 5** entries
UniProt	Protein Name
B7Z1T3
B7Z765
A0A2R8YE23
A0A2U3TZJ0
Q9UL01	Chondroitin-glucuronate 5-epimerase Squamous cell carcinoma antigen recognized by T-cells 2

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 5** entries
GO Term	Evidence Code	PMID
dermatan sulfate biosynthetic process	IDA TAS	16505484
dermatan sulfate metabolic process	IBA
heparan sulfate proteoglycan biosynthetic process	IEA
chondroitin sulfate metabolic process	IBA
chondroitin sulfate biosynthetic process	IEA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process [inference]

mucopolysaccharide metabolic process [inference]

chondroitin sulfate metabolic process

chondroitin sulfate biosynthetic process

dermatan sulfate metabolic process

dermatan sulfate biosynthetic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

dermatan sulfate biosynthetic process

sulfur compound biosynthetic process [inference]

small molecule biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

dermatan sulfate biosynthetic process

monosaccharide biosynthetic process [inference]

dermatan sulfate biosynthetic process

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

carbohydrate biosynthetic process [inference]

monosaccharide biosynthetic process [inference]

dermatan sulfate biosynthetic process

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

dermatan sulfate biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

cellular metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

dermatan sulfate biosynthetic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

dermatan sulfate metabolic process

dermatan sulfate biosynthetic process

monocarboxylic acid biosynthetic process [inference]

dermatan sulfate biosynthetic process

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

dermatan sulfate biosynthetic process

sulfur compound metabolic process [inference]

chondroitin sulfate metabolic process

chondroitin sulfate biosynthetic process

dermatan sulfate metabolic process

dermatan sulfate biosynthetic process

sulfur compound biosynthetic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

dermatan sulfate biosynthetic process

sulfur compound biosynthetic process [inference]

primary metabolic process [inference]

carbohydrate metabolic process [inference]

monosaccharide metabolic process [inference]

dermatan sulfate metabolic process

dermatan sulfate biosynthetic process

monosaccharide biosynthetic process [inference]

dermatan sulfate biosynthetic process

carbohydrate biosynthetic process [inference]

monosaccharide biosynthetic process [inference]

dermatan sulfate biosynthetic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

small molecule metabolic process [inference]

monosaccharide metabolic process [inference]

dermatan sulfate metabolic process

dermatan sulfate biosynthetic process

monosaccharide biosynthetic process [inference]

dermatan sulfate biosynthetic process

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

dermatan sulfate biosynthetic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

dermatan sulfate metabolic process

dermatan sulfate biosynthetic process

monocarboxylic acid biosynthetic process [inference]

dermatan sulfate biosynthetic process

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

dermatan sulfate biosynthetic process

small molecule biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

dermatan sulfate biosynthetic process

monosaccharide biosynthetic process [inference]

dermatan sulfate biosynthetic process

organic substance metabolic process [inference]

carbohydrate metabolic process [inference]

monosaccharide metabolic process [inference]

dermatan sulfate metabolic process

dermatan sulfate biosynthetic process

monosaccharide biosynthetic process [inference]

dermatan sulfate biosynthetic process

carbohydrate biosynthetic process [inference]

monosaccharide biosynthetic process [inference]

dermatan sulfate biosynthetic process

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

dermatan sulfate biosynthetic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

dermatan sulfate metabolic process

dermatan sulfate biosynthetic process

monocarboxylic acid biosynthetic process [inference]

dermatan sulfate biosynthetic process

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

dermatan sulfate biosynthetic process

macromolecule metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process [inference]

mucopolysaccharide metabolic process [inference]

chondroitin sulfate metabolic process

chondroitin sulfate biosynthetic process

dermatan sulfate metabolic process

dermatan sulfate biosynthetic process

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

carbohydrate derivative metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process [inference]

mucopolysaccharide metabolic process [inference]

chondroitin sulfate metabolic process

chondroitin sulfate biosynthetic process

dermatan sulfate metabolic process

dermatan sulfate biosynthetic process

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

amino disaccharide metabolic process [inference]

dermatan sulfate metabolic process

dermatan sulfate biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

organonitrogen compound metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process [inference]

mucopolysaccharide metabolic process [inference]

chondroitin sulfate metabolic process

chondroitin sulfate biosynthetic process

dermatan sulfate metabolic process

dermatan sulfate biosynthetic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

carbohydrate biosynthetic process [inference]

monosaccharide biosynthetic process [inference]

dermatan sulfate biosynthetic process

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

dermatan sulfate biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

dermatan sulfate biosynthetic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

dermatan sulfate metabolic process

dermatan sulfate biosynthetic process

monocarboxylic acid biosynthetic process [inference]

dermatan sulfate biosynthetic process

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

dermatan sulfate biosynthetic process

sulfur compound metabolic process [inference]

chondroitin sulfate metabolic process

chondroitin sulfate biosynthetic process

dermatan sulfate metabolic process

dermatan sulfate biosynthetic process

sulfur compound biosynthetic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

dermatan sulfate biosynthetic process

sulfur compound biosynthetic process [inference]

Displaying **all 5** entries
GO Term	Evidence Code	PMID
Golgi apparatus	IDA	10679095
cytoplasmic vesicle membrane	IEA
endoplasmic reticulum membrane	IEA
Golgi membrane	TAS
endoplasmic reticulum	IDA	10679095

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane [inference]

organelle membrane [inference]

endoplasmic reticulum membrane

vesicle membrane [inference]

cytoplasmic vesicle membrane

bounding membrane of organelle [inference]

Golgi membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

Displaying **all 2** entries
GO Term	Evidence Code	PMID
chondroitin-glucuronate 5-epimerase activity	IBA IDA TAS	16505484
metal ion binding	IEA

GO Hierarchy

molecular function

catalytic activity [inference]

isomerase activity [inference]

racemase and epimerase activity [inference]

racemase and epimerase activity, acting on carbohydrates and derivatives [inference]

chondroitin-glucuronate 5-epimerase activity

binding [inference]

ion binding [inference]

cation binding [inference]

metal ion binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

dermatan sulfate epimerase

Functional Category

G: Carbohydrate transport and metabolism
M: Cell wall/membrane/envelope biogenesis
O: Posttranslational modification, protein turnover, chaperones

Displaying **all 3** entries
Gene Ontology
chondroitin sulfate metabolic process
chondroitin-glucuronate 5-epimerase activity
dermatan sulfate metabolic process

Displaying 1 entry
InterPro
Chondroitin AC/alginate lyase

KEGG BRITE Database

Orthology

K01794

Name

chondroitin-glucuronate 5-epimerase [EC:5.1.3.19]

References

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0080737	Ehlers-Danlos syndrome musculocontractural type 2	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 85 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000009	Functional abnormality of the bladder
HP:0000023	Inguinal hernia
HP:0000028	Cryptorchidism
HP:0000085	Horseshoe kidney
HP:0000126	Hydronephrosis
HP:0000160	Narrow mouth
HP:0000175	Cleft palate
HP:0000218	High palate
HP:0000219	Thin upper lip vermilion

Displaying **all 2** entries
Disease ID	Disease Name
OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type 2
ORPHA:2953	Ehlers-Danlos syndrome, musculocontractural type

PubChem Disease

MedGen Diseases

Ehlers-Danlos syndrome, musculocontractural type 2

OMIM Phenotypes

EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

KEGG Diseases

Ehlers-Danlos syndrome musculocontractural type

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

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Species	Gene ID	OrthoDB	Alliance of Genome Resources	Orthologous MAtrix
Mus musculus	212898		MGI:2443455	MOUSE00341
Rattus norvegicus	365583		RGD:1305079	RATNO22598
Pan troglodytes	462957	9598_0:001de4		PANTR38918
Canis lupus familiaris	476271			CANLF00289
Bos taurus	514028			BOVIN35497
Danio rerio	568713		ZFIN:ZDB-GENE-041001-202	DANRE19594
Monodelphis domestica	100022925			MONDO11908
Equus caballus	100072666			HORSE02047
Ornithorhynchus anatinus	100093092			ORNAN15055
Xenopus tropicalis	100145321		Xenbase:XB-GENE-1013167

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GlyComb

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UniCarb-DR

LM-GlycoRepo

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Other Information

Tools

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Summary

External Links

Annotation

OrthoDB (Group)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements