CHSY1 Gene Summary [Human]
This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. These enzymes possess dual glucuronyltransferase and galactosaminyltransferase activity and play critical roles in the biosynthesis of chondroitin sulfate, a glycosaminoglycan involved in many biological processes including cell proliferation and morphogenesis. Decreased expression of this gene may play a role in colorectal cancer, and mutations in this gene are a cause of temtamy preaxial brachydactyly syndrome. [provided by RefSeq, Dec 2011]
Details
| Type | Protein Coding |
| Official Symbol | CHSY1 |
| Official Name | chondroitin sulfate synthase 1 [Source:HGNC Symbol;Acc:HGNC:17198] |
| Ensembl ID | ENSG00000131873 |
| Bio databases IDs | |
| Aliases | chondroitin sulfate synthase 1 |
| Synonyms | CHONDROITIN SULFATE SYNTHASE, chondroitin sulfate synthase 1, CHONDROITIN sulphATE SYNTHASE, chondroitin sulphate synthase 1, CHSY, CSS1, skt, TPBS |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CHSY1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase
- Chondroitin N-acetylgalactosaminyltransferase
- galactosyltransferase
- N-terminal domain of galactosyltransferase
- glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase
- enzyme
- glycosyltransferase
- glucuronyl-N-acetylgalactosaminylproteoglycan beta-1,4-N-acetylgalactosaminyltransferase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- arthritis
- hereditary disorder
- temtamy preaxial brachydactyly syndrome
- prostate cancer
- Dupuytren contracture
- fracture of bone
- prostatic carcinoma
- aortic valve calcification
- microgliosis
regulates
- mineral
- NOTCH2
role in cell
- development
- cell death
- ossification by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Extracellular Space
- cellular membrane
- Golgi Apparatus
- Golgi membrane
- Golgi stacks
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CHSY1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- chondroitin sulfate biosynthetic process
- positive regulation of smoothened signaling pathway
- bone morphogenesis
- chondrocyte development
- sulfation
- negative regulation of ossification
- response to nutrient levels
- proximal/distal pattern formation
Cellular Component
Where in the cell the gene product is active
- Golgi cisterna membrane
- membrane
- Golgi membrane
- extracellular region
Molecular Function
What the gene product does at the molecular level
- N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity
- metal ion binding
- glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity