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
223504112012Dermatan sulfate is involved in the tumorigenic properties of esophagus squamous cell carcinoma.23
237043292013Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome.21
190048332009Identification of the active site of DS-epimerase 1 and requirement of N-glycosylation for enzyme function.17
299767582018Dermatan sulfate epimerase 1 and dermatan 4-O-sulfotransferase 1 form complexes that generate long epimerized 4-O-sulfated blocks.5
298641582018DSE promotes aggressive glioma cell phenotypes by enhancing HB-EGF/ErbB signaling.4

Citation

Dessen P

DSE (dermatan sulfate epimerase)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

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