chondroitin sulfate synthase 1

Summary
Gene Symbol
  • CHSY1
Aliases
  • CSS1
  • KIAA0990
Organism
Homo sapiens (human)
External Links
NCBI Gene
22856
GGDB ID
HGNC
17198
mRNA
map
  • 15q26.3
Protein
OMIM
KEGG Gene ID
hsa:22856
PubChem
22856
Alliance of Genome Resources
Annotation
Keyword
  • Disease variant
  • Glycoprotein
  • Golgi apparatus
  • Metal-binding
  • Reference proteome
  • Secreted
  • Signal-anchor
  • Transferase
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q86X52
  • Chondroitin glucuronyltransferase 1
  • Chondroitin synthase 1
  • Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase 1
  • N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 1
  • N-acetylgalactosaminyltransferase 1
Gene Ontology (GO)
GO Hierarchy
GlycoGene Database (GGDB)
GGDB ID
gg163
Gene Symbol
  • CHSY1
Reactions
Displaying all 4 entries
Donor Acceptor Product Reference
UDP-GlcUA
G70907ST
G33235EO
UDP-GalNAc
G42573SZ
UDP-GalNAc
G71283UV
UDP-GalNAc
G76533UX
G70907ST
Displaying all 10 entries
Donor Acceptor Product Reference
UDP-GalNAc
G78706WI
UDP-GlcUA
G60511GB
UDP-GalNAc
G86399RV
UDP-GlcUA
G87877ES
UDP-GlcUA
G76533UX
UDP-GalNAc
G70907ST
UDP-GlcUA
G86399RV
UDP-GalNAc
G14371GV
UDP-Gal
G73480MV
UDP-GalNAc
G60511GB
Orthologous Gene
KEGG BRITE Database
Orthology
K13499
Name
chondroitin sulfate synthase [EC:2.4.1.175 2.4.1.226]
References
Reactions
Disease
Disease Ontology
Displaying entries 1 - 10 of 175 in total
DO ID Disease Name Source
DOID:0050387 nonpapillary renal cell carcinoma
DOID:0050564 autosomal dominant nonsyndromic deafness
DOID:0050565 autosomal recessive nonsyndromic deafness
DOID:0050566 X-linked nonsyndromic deafness
DOID:0050591 tooth agenesis
DOID:0050814 temtamy preaxial brachydactyly syndrome
DOID:0060690 autosomal dominant auditory neuropathy 1
DOID:0080199 colorectal carcinoma
DOID:0080534 myxofibrosarcoma
DOID:0110462 autosomal recessive nonsyndromic deafness 101
The Human Phenotype Ontology
Displaying entries 1 - 10 of 61 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000160 Narrow mouth
HP:0000164 Abnormality of the dentition
HP:0000175 Cleft palate
HP:0000311 Round face
HP:0000316 Hypertelorism
HP:0000327 Hypoplasia of the maxilla
HP:0000347 Micrognathia
HP:0000369 Low-set ears
HP:0000517 Abnormal lens morphology
Displaying all 2 entries
Disease ID Disease Name
OMIM:605282
  • temtamy preaxial brachydactyly syndrome
ORPHA:363417
  • temtamy preaxial brachydactyly syndrome

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024