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Standards Ontologies Notations
Chondroitin sulfate synthase 1

Summary
UniProt ID
Q86X52
Gene Symbol
  • CHSY1
  • CHSY
  • CSS1
  • KIAA0990
Organism
Homo sapiens (human)
External Links
GlyGen
Q86X52
PubChem
Q86X52
The Human Metabolome Database
HMDBP01105
The O-GlcNAc Database
Q86X52
Annotation
Keyword
  • Disease variant
  • Glycoprotein
  • Golgi apparatus
  • Metal-binding
  • Reference proteome
  • Secreted
  • Signal-anchor
  • Transferase
  • Transmembrane helix
Gene Ontology (GO)
Annotation information from UniProt.
Sequence
MAARGRRAWLSVLLGLVLGFVLASRLVLPRASELKRAGPRRRASPEGCRSGQAAASQAGGARGDARGAQLWPPGSDPDGGPRDRNFLFVGVMTAQKYLQTRAVAAYRTWSKTIPGKVQFFSSEGSDTSVPIPVVPLRGVDDSYPPQKKSFMMLKYMHDHYLDKYEWFMRADDDVYIKGDRLENFLRSLNSSEPLFLGQTGLGTTEEMGKLALEPGENFCMGGPGVIMSREVLRRMVPHIGKCLREMYTTHEDVEVGRCVRRFAGVQCVWSYEMQQLFYENYEQNKKGYIRDLHNSKIHQAITLHPNKNPPYQYRLHSYMLSRKISELRHRTIQLHREIVLMSKYSNTEIHKEDLQLGIPPSFMRFQPRQREEILEWEFLTGKYLYSAVDGQPPRRGMDSAQREALDDIVMQVMEMINANAKTRGRIIDFKEIQYGYRRVNPMYGAEYILDLLLLYKKHKGKKMTVPVRRHAYLQQTFSKIQFVEHEELDAQELAKRINQESGSLSFLSNSLKKLVPFQLPGSKSEHKEPKDKKINILIPLSGRFDMFVRFMGNFEKTCLIPNQNVKLVVLLFNSDSNPDKAKQVELMRDYRIKYPKADMQILPVSGEFSRALALEVGSSQFNNESLLFFCDVDLVFTTEFLQRCRANTVLGQQIYFPIIFSQYDPKIVYSGKVPSDNHFAFTQKTGFWRNYGFGITCIYKGDLVRVGGFDVSIQGWGLEDVDLFNKVVQAGLKTFRSQEVGVVHVHHPVFCDPNLDPKQYKMCLGSKASTYGSTQQLAEMWLEKNDPSYSKSSNNNGSVRTA
  • N : N-glycosylation Site
  • ___ : Potential Sequon
Glycosylation Sites
Displaying all 7 entries
Position Description PubMed ID GlyTouCan ID Source
189 N-linked (GlcNAc...) asparagine
623 N-linked (GlcNAc...) asparagine
768
769
770
796 N-linked (GlcNAc...) asparagine
Feature
  • ProtVista GlyGen : Glycosylation Site from GlyGen
  • ProtVista UniProt : Glycosylation Site from UniProt
Pathway
Displaying all 2 entries
Pathway Name Organism
Chondroitin sulfate biosynthesis Homo sapiens
Defective CHSY1 causes TPBS Homo sapiens
Disease
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
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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