Property Summary

NCBI Gene PubMed Count 23
Grant Count 46
R01 Count 27
Funding $4,030,137.94
PubMed Score 324.74
PubTator Score 12.22

Knowledge Summary

Patent

No data available

Expression

 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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