Property Summary

NCBI Gene PubMed Count 16
Grant Count 8
R01 Count 2
Funding $1,119,206.75
PubMed Score 170.78
PubTator Score 21.85

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

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.
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