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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 111 - 120 of 175 in total
DO ID Disease Name Source
DOID:0110563 autosomal dominant nonsyndromic deafness 36
DOID:0110564 autosomal dominant nonsyndromic deafness 3A
DOID:0110565 autosomal dominant nonsyndromic deafness 3B
DOID:0110566 autosomal dominant nonsyndromic deafness 40
DOID:0110567 autosomal dominant nonsyndromic deafness 41
DOID:0110568 autosomal dominant nonsyndromic deafness 43
DOID:0110569 autosomal dominant nonsyndromic deafness 44
DOID:0110570 autosomal dominant nonsyndromic deafness 47
DOID:0110571 autosomal dominant nonsyndromic deafness 48
DOID:0110572 autosomal dominant nonsyndromic deafness 49
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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