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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
chondroitin sulfate biosynthetic process	IEA
heparan sulfate proteoglycan biosynthetic process	IEA
chondroitin sulfate metabolic process	IBA
dermatan sulfate biosynthetic process	IDA TAS	16505484
dermatan sulfate metabolic process	IBA

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
endoplasmic reticulum	IDA	10679095
cytoplasmic vesicle membrane	IEA
endoplasmic reticulum membrane	IEA
Golgi apparatus	IDA	10679095
Golgi membrane

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.

KEGG BRITE Database

Orthology

K01794

Name

chondroitin-glucuronate 5-epimerase [EC:5.1.3.19]

References

Disease

Disease Ontology

Displaying entries **1 - 10** of 35 in total

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DO ID	Disease Name	Source
DOID:0060320	inguinal hernia	DisGeNET
DOID:0080737	Ehlers-Danlos syndrome musculocontractural type 2	Alliance of Genome Resources
DOID:0110106	atrial heart septal defect 1	DisGeNET
DOID:0110107	atrial heart septal defect 2	DisGeNET
DOID:0110108	atrial heart septal defect 3	DisGeNET
DOID:0110109	atrial heart septal defect 4	DisGeNET
DOID:0110110	atrial heart septal defect 5	DisGeNET
DOID:0110111	atrial heart septal defect 6	DisGeNET
DOID:0110112	atrial heart septal defect 7	DisGeNET
DOID:0110113	atrial heart septal defect 8	DisGeNET

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
ORPHA:2953	Ehlers-Danlos syndrome, musculocontractural type
OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type 2

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

Displaying entries **1 - 10** of 87 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Callorhinchus milii	103182570		CALMI25287
Latimeria chalumnae	102365874		LATCH04181
Danio rerio	568713	ZFIN:ZDB-GENE-041001-202	DANRE19594
Electrophorus electricus	113590559		ELEEL45221
Salmo salar	106571323		SALSA76117
Salmo salar	106607725		SALSA35851
Salmo trutta	115174906		SALTR53952
Salmo trutta	115194213		SALTR27734
Oryzias latipes	101165527		ORYLA11936
Oreochromis niloticus	100712134		ORENI19926

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements