Property Summary

NCBI Gene PubMed Count 23
PubMed Score 324.74
PubTator Score 12.22

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count P-value
lung carcinoma 2844 4.47605767272853E-22
ovarian cancer 8492 1.39734653567192E-12
malignant mesothelioma 3163 5.76324968640713E-9
astrocytoma 1493 2.44702258193837E-8
ulcerative colitis 2087 1.35702502221711E-7
posterior fossa group A ependymoma 1511 1.79238892464208E-6
tuberculosis and treatment for 3 months 327 1.94881638133802E-6
pilocytic astrocytoma 3086 1.14219641348475E-5
glioblastoma 5572 7.38680957258427E-5
chronic lymphocytic leukemia 244 1.85619546119697E-4
lung cancer 4473 1.85680439458798E-4
psoriasis 6685 3.51442316339283E-4
adrenocortical carcinoma 1427 4.0121513245874E-4
sonic hedgehog group medulloblastoma 1482 7.10863269254737E-4
pancreatic cancer 2300 0.00178668929910173
osteosarcoma 7933 0.00324722394242034
gastric carcinoma 832 0.00352093510287558
primary pancreatic ductal adenocarcinoma 1271 0.00457995041122856
primary Sjogren syndrome 789 0.0111837178338535
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.0131445293376151
active Crohn's disease 918 0.0300896933324794
intraductal papillary-mucinous adenoma (IPMA) 2956 0.0310491419020311
adult high grade glioma 2148 0.033332454388141
Disease Target Count Z-score Confidence
Ehlers-Danlos syndrome 42 0.0 4.0

Expression

Synonym

Accession Q9UL01 Q5R3K6 DS epimerase
Symbols DSEP
DSEPI
SART2
EDSMC2
SART-2
DS-epi1

Gene

DSE

  Ortholog (14)

 GWAS Trait (1)

Gene RIF (3)

PMID Text
23704329 study identified a homozygous DSE missense mutation (c.803C>T, p.S268L) in a male child with musculocontractural type of Ehlers-Danlos syndrome; data indicate mutation affects the epimerase activity, resulting in reduced dermatan sulfate (DS) biosynthesis and an increased synthesis or an accumulation or reduced conversion of chondroitin sulfate
22350411 Dermatan sulfate epimerase 1 was highly upregulated in esophagus squamous cell carcinoma
19004833 Identification of the active site of DS-epimerase 1 and requirement of N-glycosylation for enzyme function.

AA Sequence

MRTHTRGAPSVFFIYLLCFVSAYITDENPEVMIPFTNANYDSHPMLYFSRAEVAELQLRAASSHEHIAAR      1 - 70
LTEAVHTMLSSPLEYLPPWDPKDYSARWNEIFGNNLGALAMFCVLYPENIEARDMAKDYMERMAAQPSWL     71 - 140
VKDAPWDEVPLAHSLVGFATAYDFLYNYLSKTQQEKFLEVIANASGYMYETSYRRGWGFQYLHNHQPTNC    141 - 210
MALLTGSLVLMNQGYLQEAYLWTKQVLTIMEKSLVLLREVTDGSLYEGVAYGSYTTRSLFQYMFLVQRHF    211 - 280
NINHFGHPWLKQHFAFMYRTILPGFQRTVAIADSNYNWFYGPESQLVFLDKFVMRNGSGNWLADQIRRNR    281 - 350
VVEGPGTPSKGQRWCTLHTEFLWYDGSLKSVPPPDFGTPTLHYFEDWGVVTYGSALPAEINRSFLSFKSG    351 - 420
KLGGRAIYDIVHRNKYKDWIKGWRNFNAGHEHPDQNSFTFAPNGVPFITEALYGPKYTFFNNVLMFSPAV    421 - 490
SKSCFSPWVGQVTEDCSSKWSKYKHDLAASCQGRVVAAEEKNGVVFIRGEGVGAYNPQLNLKNVQRNLIL    491 - 560
LHPQLLLLVDQIHLGEESPLETAASFFHNVDVPFEETVVDGVHGAFIRQRDGLYKMYWMDDTGYSEKATF    561 - 630
ASVTYPRGYPYNGTNYVNVTMHLRSPITRAAYLFIGPSIDVQSFTVHGDSQQLDVFIATSKHAYATYLWT    631 - 700
GEATGQSAFAQVIADRHKILFDRNSAIKSSIVPEVKDYAAIVEQNLQHFKPVFQLLEKQILSRVRNTASF    701 - 770
RKTAERLLRFSDKRQTEEAIDRIFAISQQQQQQSKSKKNRRAGKRYKFVDAVPDIFAQIEVNEKKIRQKA    771 - 840
QILAQKELPIDEDEEMKDLLDFADVTYEKHKNGGLIKGRFGQARMVTTTHSRAPSLSASYTRLFLILNIA    841 - 910
IFFVMLAMQLTYFQRAQSLHGQRCLYAVLLIDSCILLWLYSSCSQSQC                          911 - 958
//

Text Mined References (23)

PMID Year Title
26900446 2016 Deciphering the Mode of Action of the Processive Polysaccharide Modifying Enzyme Dermatan Sulfate Epimerase 1 by Hydrogen-Deuterium Exchange Mass Spectrometry.
26373698 2016 The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.
25703627 2015 Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis.
25186462 2014 Dermatan sulfate epimerase 1 deficient mice as a model for human abdominal wall defects.
25130324 2014 A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
24324885 2013 Defects in tendon, ligament, and enthesis in response to genetic alterations in key proteoglycans and glycoproteins: a review.
23704329 2013 Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome.
23441919 2013 Biological functions of iduronic acid in chondroitin/dermatan sulfate.
22366580 2012 In vitro induction of specific CD8+ T lymphocytes by tumor-associated antigenic peptides in patients with oral squamous cell carcinoma.
22350411 2012 Dermatan sulfate is involved in the tumorigenic properties of esophagus squamous cell carcinoma.
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