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 21 - 30 of 175 in total
DO ID Disease Name Source
DOID:0110473 autosomal recessive nonsyndromic deafness 18A
DOID:0110474 autosomal recessive nonsyndromic deafness 18B
DOID:0110475 autosomal recessive nonsyndromic deafness 1A
DOID:0110476 autosomal recessive nonsyndromic deafness 1B
DOID:0110477 autosomal recessive nonsyndromic deafness 2
DOID:0110478 autosomal recessive nonsyndromic deafness 20
DOID:0110479 autosomal recessive nonsyndromic deafness 21
DOID:0110480 autosomal recessive nonsyndromic deafness 22
DOID:0110481 autosomal recessive nonsyndromic deafness 23
DOID:0110482 autosomal recessive nonsyndromic deafness 24
The Human Phenotype Ontology
Displaying entry 61 - 61 of 61 in total
HPO ID HPO Term
HP:0100347 Tibial deviation of the 5th toe
Displaying all 2 entries
Disease ID Disease Name
OMIM:605282
  • temtamy preaxial brachydactyly syndrome
ORPHA:363417
  • temtamy preaxial brachydactyly syndrome
Ortholog
Displaying entries 71 - 72 of 72 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
116450683 CORMO02523
115612810 STRHB23034

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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