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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
chondroitin sulfate synthase 1
Summary
- Gene Symbol
-
- CHSY1
- Aliases
-
- CSS1
- KIAA0990
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Disease variant
- Glycoprotein
- Golgi apparatus
- Metal-binding
- Reference proteome
- Secreted
- Signal-anchor
- Transferase
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| Q86X52 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| negative regulation of ossification | ||
| proximal/distal pattern formation | ||
| sulfation | ||
| response to nutrient levels | ||
| chondrocyte development |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| membrane | ||
| extracellular region | ||
| Golgi cisterna membrane | ||
| Golgi membrane |
| GO Term | Evidence Code | PMID |
|---|---|---|
| metal ion binding | ||
| N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity | ||
| glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity |
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- chondroitin sulfate
- Functional Category
-
- G: Carbohydrate transport and metabolism
- Q: Secondary metabolites biosynthesis, transport and catabolism
- T: Signal transduction mechanisms
| InterPro |
|---|
| Chondroitin N-acetylgalactosaminyltransferase |
| Nucleotide-diphospho-sugar transferases |
GlycoGene Database (GGDB)
- GGDB ID
- gg163
- Gene Symbol
-
- CHSY1
- Reactions
G76533UX
G70907ST
G33235EO
G78706WI
G86399RV
G87877ES
G60511GB
- Orthologous Gene
| Species | Protein | mRNA |
|---|---|---|
| Drosophila melanogaster | NP_996440 | NM_206717 |
| Rattus norvegicus | XP_218759 | XM_218759 |
| Caenorhabditis elegans | BAC76780 | AB088397 |
| Mus musculus | XP_194358 | XM_194358 |
KEGG BRITE Database
G09318DC
G95036CM
G40609EP
G91368UC
G66923HV
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050814 | temtamy preaxial brachydactyly syndrome |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0008368 | Tarsal synostosis |
| HP:0008619 | Bilateral sensorineural hearing impairment |
| HP:0008625 | Severe sensorineural hearing impairment |
| HP:0009466 | Radial deviation of finger |
| HP:0009608 | Complete duplication of proximal phalanx of the thumb |
| HP:0009702 | Carpal synostosis |
| HP:0009942 | Duplication of thumb phalanx |
| HP:0009944 | Partial duplication of thumb phalanx |
| HP:0009966 | Complete duplication of the middle phalanx of the 3rd finger |
| HP:0009970 | Partial duplication of the proximal phalanx of the 3rd finger |
| Disease ID | Disease Name |
|---|---|
| OMIM:605282 |
|
| ORPHA:363417 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 32497 | FB:FBgn0030662 | |||
| 172851 | WB:WBGene00005023 | |||
| 269941 | MGI:2681120 | MOUSE52043 | ||
| 281690 | BOVIN16296 | |||
| 292999 | RGD:1311904 | RATNO18427 | ||
| 324407 | ZFIN:ZDB-GENE-030131-3127 | DANRE40590 | ||
| 488704 | CANLF12003 | |||
| 694481 | MACMU39918 | |||
| 100020781 | MONDO08518 | |||
| 100036707 | Xenbase:XB-GENE-961883 |
