Property Summary

NCBI Gene PubMed Count 18
Grant Count 4
R01 Count 4
Funding $431,072
PubMed Score 44.33
PubTator Score 31.66

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (15)

Disease log2 FC p
Multiple myeloma 1.069 0.003
glioblastoma 1.900 0.000
posterior fossa group A ependymoma 1.300 0.000
sonic hedgehog group medulloblastoma 1.700 0.000
juvenile dermatomyositis 1.566 0.000
acute quadriplegic myopathy 1.043 0.000
primary pancreatic ductal adenocarcinoma 1.967 0.012
active Crohn's disease 1.144 0.018
fibroadenoma 1.100 0.005
lung adenocarcinoma -1.100 0.000
ulcerative colitis 1.800 0.000
ovarian cancer 1.600 0.001
pituitary cancer -1.500 0.000
pancreatic cancer 2.100 0.008
dermatomyositis 1.800 0.002

Synonym

Accession Q86X52 Q6UX38 Q7LFU5 Q9Y2J5
Symbols CHSY
CSS1
TPBS
ChSy-1

Gene

PANTHER Protein Class (2)

Gene RIF (7)

PMID Text
26997434 CHSY1 expression is closely associated with malignant potential of soft tissue sarcomas with myxoid substance.
24269551 A novel missense mutation (c.1897 G > A) in the CHSY1 gene in two Temtamy preaxial brachydactyly syndrome patients from a consanguineous Pakistani family.
23811343 elongation of chondroitin sulfate chains may be tightly regulated by the cooperative expression of chondroitin synthase-1 and chondroitin N-acetylgalactosaminyltransferase-1 in peripheral neurons and peripheral neuropathies
21468578 The present study focused on the expression of chondroitin-synthesizing enzymes in colorectal cancer.
21129728 unrestricted Bmp2b signaling or loss of Dan activity leads to reduced chsy1 expression and, during epithelial morphogenesis, defects similar to those that occur upon Chsy1 inactivation
21129727 conclude that CHSY1 is a secreted FRINGE enzyme required for adjustment of NOTCH signaling throughout human and fish embryogenesis and particularly during limb patterning
12716890 chondroitin polymerizing activity requires concomitant expression of a ChPF with ChSy; coexpression of the ChPF and ChSy yielded markedly augmented glycosyltransferase activities, whereas simple mixing of the two separately expressed proteins did not.

AA Sequence

MAARGRRAWLSVLLGLVLGFVLASRLVLPRASELKRAGPRRRASPEGCRSGQAAASQAGGARGDARGAQL      1 - 70
WPPGSDPDGGPRDRNFLFVGVMTAQKYLQTRAVAAYRTWSKTIPGKVQFFSSEGSDTSVPIPVVPLRGVD     71 - 140
DSYPPQKKSFMMLKYMHDHYLDKYEWFMRADDDVYIKGDRLENFLRSLNSSEPLFLGQTGLGTTEEMGKL    141 - 210
ALEPGENFCMGGPGVIMSREVLRRMVPHIGKCLREMYTTHEDVEVGRCVRRFAGVQCVWSYEMQQLFYEN    211 - 280
YEQNKKGYIRDLHNSKIHQAITLHPNKNPPYQYRLHSYMLSRKISELRHRTIQLHREIVLMSKYSNTEIH    281 - 350
KEDLQLGIPPSFMRFQPRQREEILEWEFLTGKYLYSAVDGQPPRRGMDSAQREALDDIVMQVMEMINANA    351 - 420
KTRGRIIDFKEIQYGYRRVNPMYGAEYILDLLLLYKKHKGKKMTVPVRRHAYLQQTFSKIQFVEHEELDA    421 - 490
QELAKRINQESGSLSFLSNSLKKLVPFQLPGSKSEHKEPKDKKINILIPLSGRFDMFVRFMGNFEKTCLI    491 - 560
PNQNVKLVVLLFNSDSNPDKAKQVELMRDYRIKYPKADMQILPVSGEFSRALALEVGSSQFNNESLLFFC    561 - 630
DVDLVFTTEFLQRCRANTVLGQQIYFPIIFSQYDPKIVYSGKVPSDNHFAFTQKTGFWRNYGFGITCIYK    631 - 700
GDLVRVGGFDVSIQGWGLEDVDLFNKVVQAGLKTFRSQEVGVVHVHHPVFCDPNLDPKQYKMCLGSKAST    701 - 770
YGSTQQLAEMWLEKNDPSYSKSSNNNGSVRTA                                          771 - 802
//

Text Mined References (19)

PMID Year Title
26997434 2016 Chondroitin sulfate synthase 1 expression is associated with malignant potential of soft tissue sarcomas with myxoid substance.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24269551 2014 A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family.
24068947 2013 Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.
23811343 2013 A chondroitin synthase-1 (ChSy-1) missense mutation in a patient with neuropathy impairs the elongation of chondroitin sulfate chains initiated by chondroitin N-acetylgalactosaminyltransferase-1.
23322567 2013 Identification of a candidate gene for astigmatism.
23291589 2013 Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
21468578 Chondroitin synthases I, II, III and chondroitin sulfate glucuronyltransferase expression in colorectal cancer.
21129728 2010 Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling.
21129727 2010 Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling.
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