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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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)
| GO Term |
|---|
| Golgi cisterna membrane |
| Golgi membrane |
| extracellular region |
| membrane |
Sequence
MAARGRRAWLSVLLGLVLGFVLASRLVLPRASELKRAGPRRRASPEGCRSGQAAASQAGGARGDARGAQLWPPGSDPDGGPRDRNFLFVGVMTAQKYLQTRAVAAYRTWSKTIPGKVQFFSSEGSDTSVPIPVVPLRGVDDSYPPQKKSFMMLKYMHDHYLDKYEWFMRADDDVYIKGDRLENFLRSLNSSEPLFLGQTGLGTTEEMGKLALEPGENFCMGGPGVIMSREVLRRMVPHIGKCLREMYTTHEDVEVGRCVRRFAGVQCVWSYEMQQLFYENYEQNKKGYIRDLHNSKIHQAITLHPNKNPPYQYRLHSYMLSRKISELRHRTIQLHREIVLMSKYSNTEIHKEDLQLGIPPSFMRFQPRQREEILEWEFLTGKYLYSAVDGQPPRRGMDSAQREALDDIVMQVMEMINANAKTRGRIIDFKEIQYGYRRVNPMYGAEYILDLLLLYKKHKGKKMTVPVRRHAYLQQTFSKIQFVEHEELDAQELAKRINQESGSLSFLSNSLKKLVPFQLPGSKSEHKEPKDKKINILIPLSGRFDMFVRFMGNFEKTCLIPNQNVKLVVLLFNSDSNPDKAKQVELMRDYRIKYPKADMQILPVSGEFSRALALEVGSSQFNNESLLFFCDVDLVFTTEFLQRCRANTVLGQQIYFPIIFSQYDPKIVYSGKVPSDNHFAFTQKTGFWRNYGFGITCIYKGDLVRVGGFDVSIQGWGLEDVDLFNKVVQAGLKTFRSQEVGVVHVHHPVFCDPNLDPKQYKMCLGSKASTYGSTQQLAEMWLEKNDPSYSKSSNNNGSVRTA
Glycosylation Sites
| 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 | |||
|
|
G41247ZX
G57321FI
G15205QB
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Chondroitin sulfate biosynthesis | Homo sapiens |
| Defective CHSY1 causes TPBS | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110463 | autosomal recessive nonsyndromic deafness 102 | |
| DOID:0110464 | autosomal recessive nonsyndromic deafness 103 | |
| DOID:0110465 | autosomal recessive nonsyndromic deafness 104 | |
| DOID:0110466 | obsolete autosomal recessive nonsyndromic deafness 105 | |
| DOID:0110467 | autosomal recessive nonsyndromic deafness 12 | |
| DOID:0110468 | autosomal recessive nonsyndromic deafness 13 | |
| DOID:0110469 | autosomal recessive nonsyndromic deafness 14 | |
| DOID:0110470 | autosomal recessive nonsyndromic deafness 15 | |
| DOID:0110471 | autosomal recessive nonsyndromic deafness 16 | |
| DOID:0110472 | autosomal recessive nonsyndromic deafness 17 |
