Property Summary

NCBI Gene PubMed Count 18
PubMed Score 27.12
PubTator Score 14.39

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (19)

Disease log2 FC p
Rheumatoid Arthritis 1.400 2.7e-02
chronic lymphocytic leukemia -3.513 8.8e-09
malignant mesothelioma -5.700 4.2e-09
group 4 medulloblastoma -4.000 4.0e-08
cystic fibrosis 1.323 5.9e-03
atypical teratoid / rhabdoid tumor -3.600 5.7e-07
glioblastoma -1.600 1.9e-02
medulloblastoma, large-cell -5.300 1.3e-06
Duchenne muscular dystrophy 1.476 6.8e-08
autosomal dominant Emery-Dreifuss muscul... 1.122 4.4e-03
non-small cell lung cancer -1.325 2.3e-11
lung cancer -1.800 2.6e-03
posterior fossa group A ependymoma -1.300 7.3e-05
aldosterone-producing adenoma -1.410 1.8e-02
lung adenocarcinoma -1.022 1.2e-03
Breast cancer -1.400 1.8e-04
ulcerative colitis 2.800 2.1e-05
ovarian cancer -4.600 2.8e-14
pituitary cancer -1.800 2.1e-04

Gene RIF (8)

PMID Text
23748413 CSGalNAcT-1 and Hapln-1 may play important roles in the pathogenesis of Kashin-Beck disease and osteoarthritis.
22156920 CSGalNAcT-1 exhibited higher enzymatic efficiency toward monosulfated trisaccharides substituted at C4 or C6 position of Gal1, and at C6 of Gal2 compared with the unsulfated oligosaccharide.
21160489 CSGALNACT1 missense mutations are associated with neuropathies.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19730683 Observational study of gene-disease association. (HuGE Navigator)
19701759 higher expression in the fetal skin than in adult skin
12446672 plays a role in the initiation and elongation in the synthesis of chondroitin sulfate
12163485 These results suggest that this enzyme has N-acetylgalactosaminyltransferase activity in both the elongation and initiation of chondroitin sulfate synthesis.

AA Sequence

MMMVRRGLLAWISRVVVLLVLLCCAISVLYMLACTPKGDEEQLALPRANSPTGKEGYQAVLQEWEEQHRN      1 - 70
YVSSLKRQIAQLKEELQERSEQLRNGQYQASDAAGLGLDRSPPEKTQADLLAFLHSQVDKAEVNAGVKLA     71 - 140
TEYAAVPFDSFTLQKVYQLETGLTRHPEEKPVRKDKRDELVEAIESALETLNSPAENSPNHRPYTASDFI    141 - 210
EGIYRTERDKGTLYELTFKGDHKHEFKRLILFRPFGPIMKVKNEKLNMANTLINVIVPLAKRVDKFRQFM    211 - 280
QNFREMCIEQDGRVHLTVVYFGKEEINEVKGILENTSKAANFRNFTFIQLNGEFSRGKGLDVGARFWKGS    281 - 350
NVLLFFCDVDIYFTSEFLNTCRLNTQPGKKVFYPVLFSQYNPGIIYGHHDAVPPLEQQLVIKKETGFWRD    351 - 420
FGFGMTCQYRSDFINIGGFDLDIKGWGGEDVHLYRKYLHSNLIVVRTPVRGLFHLWHEKRCMDELTPEQY    421 - 490
KMCMQSKAMNEASHGQLGMLVFRHEIEAHLRKQKQKTSSKKT                                491 - 532
//

Text Mined References (20)

PMID Year Title
25201988 2014 Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
23748413 2013 Abnormal expression of chondroitin sulphate N-acetylgalactosaminyltransferase 1 and Hapln-1 in cartilage with Kashin-Beck disease and primary osteoarthritis.
23726668 2013 A genome-wide association study of a sustained pattern of antidepressant response.
22156920 2012 Chondroitin sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) involved in chondroitin sulfate initiation: Impact of sulfation on activity and specificity.
21160489 2011 Chondroitin beta-1,4-N-acetylgalactosaminyltransferase-1 missense mutations are associated with neuropathies.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19730683 2009 The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors.
19701759 2010 Comparison between human fetal and adult skin.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17145758 2007 Chondroitin sulfate N-acetylgalactosaminyltransferase-1 plays a critical role in chondroitin sulfate synthesis in cartilage.
16421571 2006 DNA sequence and analysis of human chromosome 8.
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.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12446672 2003 Differential roles of two N-acetylgalactosaminyltransferases, CSGalNAcT-1, and a novel enzyme, CSGalNAcT-2. Initiation and elongation in synthesis of chondroitin sulfate.
12163485 2002 Enzymatic synthesis of chondroitin with a novel chondroitin sulfate N-acetylgalactosaminyltransferase that transfers N-acetylgalactosamine to glucuronic acid in initiation and elongation of chondroitin sulfate synthesis.
11788602 2002 Molecular cloning and expression of human chondroitin N-acetylgalactosaminyltransferase: the key enzyme for chain initiation and elongation of chondroitin/dermatan sulfate on the protein linkage region tetrasaccharide shared by heparin/heparan sulfate.
11514575 2001 Molecular cloning and expression of a human chondroitin synthase.