Property Summary

NCBI Gene PubMed Count 16
PubMed Score 170.78
PubTator Score 21.85

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
posterior fossa group A ependymoma 1.800 1.1e-13
glioblastoma 2.100 3.1e-07
medulloblastoma 1.800 5.5e-07
atypical teratoid / rhabdoid tumor 2.200 2.9e-10
medulloblastoma, large-cell 1.300 2.4e-03
primitive neuroectodermal tumor 1.900 5.2e-06
pediatric high grade glioma 1.700 6.5e-08
pilocytic astrocytoma 1.800 4.1e-09
ovarian cancer 1.100 3.7e-05

Protein-protein Interaction (11)

Gene RIF (10)

PMID Text
26373698 CHST14 gene mutations are associated with musculocontractural type of Ehlers-Danlos syndrome.
22581468 We report on the detailed clinical characterization of two sisters with musculocontractural Ehlers-Danlos syndrome caused by a homozygous mutation in the CHST14 gene.
21309034 Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient adducted thumb-clubfoot syndrome".
20842734 Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.
20533528 A homozygous CHST14 (carbohydrate sulfotransferase 14) mutation in the two familial cases and compound heterozygous mutations in four sporadic cases of Ehlers-Danlos syndrome, were identified.
20004762 dermatan-4-sulfotransferase 1 has a role in adducted thumb-clubfoot syndrome
19661164 D4ST-1 is a key enzyme and is indispensable in the formation of important functional domains in dermatan sulfate and cannot be compensated by other 4-O-sulfotransferases
18976975 Knockdown of carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 (CHST14) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells
12847091 human D4ST-1, C4ST-1, and S4ST-2 have differential roles in dermatan sulfate biosynthesis
11470797 D4ST-1 is encoded by a single exon located on human chromosome 15q14; type II membrane protein of 376 amino acids with a 43-amino acid cytoplasmic domain and a 316-amino acid luminal domain containing two potential N-linked glycosylation sites

AA Sequence

MFPRPLTPLAAPNGAEPLGRALRRAPLGRARAGLGGPPLLLPSMLMFAVIVASSGLLLMIERGILAEMKP      1 - 70
LPLHPPGREGTAWRGKAPKPGGLSLRAGDADLQVRQDVRNRTLRAVCGQPGMPRDPWDLPVGQRRTLLRH     71 - 140
ILVSDRYRFLYCYVPKVACSNWKRVMKVLAGVLDSVDVRLKMDHRSDLVFLADLRPEEIRYRLQHYFKFL    141 - 210
FVREPLERLLSAYRNKFGEIREYQQRYGAEIVRRYRAGAGPSPAGDDVTFPEFLRYLVDEDPERMNEHWM    211 - 280
PVYHLCQPCAVHYDFVGSYERLEADANQVLEWVRAPPHVRFPARQAWYRPASPESLHYHLCSAPRALLQD    281 - 350
VLPKYILDFSLFAYPLPNVTKEACQQ                                                351 - 376
//

Text Mined References (16)

PMID Year Title
26373698 2016 The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.
22581468 2012 Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene.
21309034 2011 Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient adducted thumb-clubfoot syndrome".
20842734 2010 Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.
20533528 2010 Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.
20004762 2009 Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.
19661164 2009 Dermatan 4-O-sulfotransferase 1 is pivotal in the formation of iduronic acid blocks in dermatan sulfate.
19199708 2009 Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT).
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16303743 2005 Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.
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.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12847091 2003 Specificities of three distinct human chondroitin/dermatan N-acetylgalactosamine 4-O-sulfotransferases demonstrated using partially desulfated dermatan sulfate as an acceptor: implication of differential roles in dermatan sulfate biosynthesis.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11470797 2001 Molecular cloning and characterization of a dermatan-specific N-acetylgalactosamine 4-O-sulfotransferase.