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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 |
|---|---|---|
| positive regulation of smoothened signaling pathway | ||
| bone morphogenesis | ||
| chondroitin sulfate biosynthetic process |
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
G73480MV
G14371GV
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:0001159 | Syndactyly |
| HP:0001234 | Hitchhiker thumb |
| HP:0001249 | Intellectual disability |
| HP:0001263 | Global developmental delay |
| HP:0001328 | Specific learning disability |
| HP:0001357 | Plagiocephaly |
| HP:0001510 | Growth delay |
| HP:0001566 | Widely-spaced maxillary central incisors |
| HP:0001773 | Short foot |
| HP:0001999 | Abnormal facial shape |
| 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 |
|---|---|---|---|---|
| 105724974 | AOTNA32816 | |||
| 105871286 | MICMU12071 | |||
| 106839479 | EQUAS12875 | |||
| 107553812 | SINGR49310 | |||
| 107562679 | SINGR14049 | |||
| 107972286 | 9598_0:003f60 | |||
| 108271046 | ICTPU01170 | |||
| 108522937 | RHIBE31860 | |||
| 108711484 | Xenbase:XB-GENE-6487752 | |||
| 108712816 | Xenbase:XB-GENE-17339959 |
