Property Summary

NCBI Gene PubMed Count 23
PubMed Score 324.74
PubTator Score 12.22

Knowledge Summary

Patent

No data available

TINX Plot

Expression

  Differential Expression (23)

Disease log2 FC p
chronic lymphocytic leukemia -1.627 1.9e-04
malignant mesothelioma -3.000 5.8e-09
psoriasis 1.400 3.5e-04
astrocytoma 1.100 2.4e-08
glioblastoma 2.900 7.4e-05
osteosarcoma 1.559 3.2e-03
posterior fossa group A ependymoma 1.500 1.8e-06
sonic hedgehog group medulloblastoma 1.500 7.1e-04
adrenocortical carcinoma -1.119 4.0e-04
tuberculosis and treatment for 3 months -2.400 1.9e-06
primary pancreatic ductal adenocarcinoma 1.271 4.6e-03
intraductal papillary-mucinous adenoma (... -2.000 3.1e-02
intraductal papillary-mucinous carcinoma... -2.300 1.3e-02
lung cancer -1.800 1.9e-04
active Crohn's disease 1.973 3.0e-02
ulcerative colitis 3.000 1.4e-07
adult high grade glioma 1.100 3.3e-02
pilocytic astrocytoma 1.400 1.1e-05
primary Sjogren syndrome 1.100 1.1e-02
lung carcinoma -1.200 4.5e-22
gastric carcinoma 1.800 3.5e-03
ovarian cancer -5.000 1.4e-12
pancreatic cancer 1.300 1.8e-03

 GWAS Trait (1)

Protein-protein Interaction (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.
21480325 2011 Comparative analysis of various tumor-associated antigen-specific t-cell responses in patients with hepatocellular carcinoma.
20929582 2010 The chondroitin/dermatan sulfate synthesizing and modifying enzymes in laryngeal cancer: expressional and epigenetic studies.
19188366 2009 Two dermatan sulfate epimerases form iduronic acid domains in dermatan sulfate.
19004833 2009 Identification of the active site of DS-epimerase 1 and requirement of N-glycosylation for enzyme function.
16505484 2006 Biosynthesis of dermatan sulfate: chondroitin-glucuronate C5-epimerase is identical to SART2.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11920522 2002 Expression of tumor rejection antigens in colorectal carcinomas.
11092984 2000 Expression of tumor-rejection antigens in gynecologic cancers.
10679095 2000 Identification of a gene coding for a new squamous cell carcinoma antigen recognized by the CTL.