DSE (dermatan sulfate epimerase)

2003-06-01  

Identity

HGNC
DSE
LOCATION
6q22.1
LOCUSID
29940
ALIAS
DS-epi1,DSEP,DSEPI,EDSMC2,SART-2,SART2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 29940
MIM: 605942
HGNC: 21144
Ensembl: ENSG00000111817

Variants:

dbSNP: 29940
ClinVar: 29940
TCGA: ENSG00000111817
COSMIC: DSE

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000111817ENST00000331677Q9UL01
ENSG00000111817ENST00000359564A0A2U3TZJ0
ENSG00000111817ENST00000430252X6REM1
ENSG00000111817ENST00000452085Q9UL01
ENSG00000111817ENST00000643175A0A2R8Y6Y4
ENSG00000111817ENST00000644252Q9UL01
ENSG00000111817ENST00000645988A0A2R8Y4N7
ENSG00000111817ENST00000646710A0A2R8YE23
ENSG00000111817ENST00000647244A0A2R8YE23

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfateKEGGko00532
Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfateKEGGhsa00532
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glycosaminoglycan metabolismREACTOMER-HSA-1630316
Chondroitin sulfate/dermatan sulfate metabolismREACTOMER-HSA-1793185
Dermatan sulfate biosynthesisREACTOMER-HSA-2022923

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166123407abirateroneChemicalClinicalAnnotationassociatedPD
PA445425Prostatic NeoplasmsDiseaseClinicalAnnotationassociatedPD
PA451096prednisoloneChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
319724382020Dermatan sulfate epimerase 1 expression and mislocalization may interfere with dermatan sulfate synthesis and breast cancer cell growth.6
319724382020Dermatan sulfate epimerase 1 expression and mislocalization may interfere with dermatan sulfate synthesis and breast cancer cell growth.6
298641582018DSE promotes aggressive glioma cell phenotypes by enhancing HB-EGF/ErbB signaling.19
299767582018Dermatan sulfate epimerase 1 and dermatan 4-O-sulfotransferase 1 form complexes that generate long epimerized 4-O-sulfated blocks.17
298641582018DSE promotes aggressive glioma cell phenotypes by enhancing HB-EGF/ErbB signaling.19
299767582018Dermatan sulfate epimerase 1 and dermatan 4-O-sulfotransferase 1 form complexes that generate long epimerized 4-O-sulfated blocks.17
237043292013Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome.40
237043292013Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome.40
223504112012Dermatan sulfate is involved in the tumorigenic properties of esophagus squamous cell carcinoma.38
223504112012Dermatan sulfate is involved in the tumorigenic properties of esophagus squamous cell carcinoma.38
190048332009Identification of the active site of DS-epimerase 1 and requirement of N-glycosylation for enzyme function.20
190048332009Identification of the active site of DS-epimerase 1 and requirement of N-glycosylation for enzyme function.20

Citation

Dessen P

DSE (dermatan sulfate epimerase)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/42204