CHSY1 (chondroitin sulfate synthase 1)

2011-08-01  

Identity

HGNC
LOCATION
15q26.3
LOCUSID
ALIAS
CHSY,CSS1,ChSy-1,TPBS
FUSION GENES

Other Information

Locus ID:

NCBI: 22856
MIM: 608183
HGNC: 17198
Ensembl: ENSG00000131873

Variants:

dbSNP: 22856
ClinVar: 22856
TCGA: ENSG00000131873
COSMIC: CHSY1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131873ENST00000254190Q86X52
ENSG00000131873ENST00000543813A0A2R8Y7B7

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfateKEGGko00532
Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfateKEGGhsa00532
Metabolic pathwaysKEGGhsa01100
Glycosaminoglycan biosynthesis, chondroitin sulfate backboneKEGGhsa_M00058
Glycosaminoglycan biosynthesis, chondroitin sulfate backboneKEGGM00058
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glycosaminoglycan metabolismREACTOMER-HSA-1630316
Chondroitin sulfate/dermatan sulfate metabolismREACTOMER-HSA-1793185
Chondroitin sulfate biosynthesisREACTOMER-HSA-2022870

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
127168902003Molecular cloning of a chondroitin polymerizing factor that cooperates with chondroitin synthase for chondroitin polymerization.40
211297272010Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling.29
211297282010Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling.24
214685782011Chondroitin synthases I, II, III and chondroitin sulfate glucuronyltransferase expression in colorectal cancer.12
286520222017CHSY1 promotes aggressive phenotypes of hepatocellular carcinoma cells via activation of the hedgehog signaling pathway.11
242695512014A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family.3
269974342016Chondroitin sulfate synthase 1 expression is associated with malignant potential of soft tissue sarcomas with myxoid substance.3
238113432013A chondroitin synthase-1 (ChSy-1) missense mutation in a patient with neuropathy impairs the elongation of chondroitin sulfate chains initiated by chondroitin N-acetylgalactosaminyltransferase-1.1

Citation

Dessen P

CHSY1 (chondroitin sulfate synthase 1)

Atlas Genet Cytogenet Oncol Haematol. 2011-08-01

Online version: http://atlasgeneticsoncology.org/gene/52320/chsy1