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)
Sequence
MAARGRRAWLSVLLGLVLGFVLASRLVLPRASELKRAGPRRRASPEGCRSGQAAASQAGGARGDARGAQLWPPGSDPDGGPRDRNFLFVGVMTAQKYLQTRAVAAYRTWSKTIPGKVQFFSSEGSDTSVPIPVVPLRGVDDSYPPQKKSFMMLKYMHDHYLDKYEWFMRADDDVYIKGDRLENFLRSLNSSEPLFLGQTGLGTTEEMGKLALEPGENFCMGGPGVIMSREVLRRMVPHIGKCLREMYTTHEDVEVGRCVRRFAGVQCVWSYEMQQLFYENYEQNKKGYIRDLHNSKIHQAITLHPNKNPPYQYRLHSYMLSRKISELRHRTIQLHREIVLMSKYSNTEIHKEDLQLGIPPSFMRFQPRQREEILEWEFLTGKYLYSAVDGQPPRRGMDSAQREALDDIVMQVMEMINANAKTRGRIIDFKEIQYGYRRVNPMYGAEYILDLLLLYKKHKGKKMTVPVRRHAYLQQTFSKIQFVEHEELDAQELAKRINQESGSLSFLSNSLKKLVPFQLPGSKSEHKEPKDKKINILIPLSGRFDMFVRFMGNFEKTCLIPNQNVKLVVLLFNSDSNPDKAKQVELMRDYRIKYPKADMQILPVSGEFSRALALEVGSSQFNNESLLFFCDVDLVFTTEFLQRCRANTVLGQQIYFPIIFSQYDPKIVYSGKVPSDNHFAFTQKTGFWRNYGFGITCIYKGDLVRVGGFDVSIQGWGLEDVDLFNKVVQAGLKTFRSQEVGVVHVHHPVFCDPNLDPKQYKMCLGSKASTYGSTQQLAEMWLEKNDPSYSKSSNNNGSVRTA
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 51 - 60 of 175 in total
DO ID Disease Name Source
DOID:0110503 autosomal recessive nonsyndromic deafness 46
DOID:0110504 autosomal recessive nonsyndromic deafness 47
DOID:0110505 autosomal recessive nonsyndromic deafness 48
DOID:0110506 autosomal recessive nonsyndromic deafness 49
DOID:0110507 autosomal recessive nonsyndromic deafness 5
DOID:0110508 autosomal recessive nonsyndromic deafness 51
DOID:0110509 autosomal recessive nonsyndromic deafness 53
DOID:0110510 autosomal recessive nonsyndromic deafness 55
DOID:0110511 autosomal recessive nonsyndromic deafness 59
DOID:0110512 autosomal recessive nonsyndromic deafness 6

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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