ACAN Gene Summary [Human]
This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | ACAN |
| Official Name | aggrecan [Source:HGNC Symbol;Acc:HGNC:319] |
| Ensembl ID | ENSG00000157766 |
| Bio databases IDs | |
| Aliases | aggrecan, aggrecan proteoglycan |
| Synonyms | Agc, AGC1, AGCAN, Agg, Aggrecan, b2b183Clo, cmd, Cspcp, CSPG1, CSPGCP, MSK16, SEDK, SSOAOD |
| 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 ACAN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- interglobular domain
- B loop
- globular domain
- G1-domain
- EGF_CA
- Laminin-type epidermal growth factor-like domai
- Immunoglobulin like
- Immunoglobulin V-set domain
- SUSHI repeat
- C-type lectin (CTL)/C-type lectin-like (CTLD) domain
- Immunoglobulin V-Type
- immunoglobulin domain
- B' loop
- Human growth factor-like EGF
- calcium ion binding
- Immunoglobulin I-set domain
- extracellular matrix structural constituent
- Extracellular link domain
- protein binding
- EGF-like domain
- CCP
- A loop
- Link_Domain
- neo-epitope
- Lectin C-type domain
- Sushi repeat (SCR repeat)
Pathways
Biological processes and signaling networks where the ACAN gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- osteosarcoma
- short stature and advanced bone age
- short stature and advanced bone age with early-onset osteoarthritis
- rheumatoid arthritis
- short stature and advanced bone age with early-onset osteoarthritis and osteochondritis dissecans
- congenital heart disease
- hereditary disorder
- aortic valve calcification
- osteochondritis dissecans
- preeclampsia
role in cell
- expression in
- migration
- quantity
- growth
- inhibition
- development
- differentiation
- number
- organization
- growth in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- soluble fraction
- Golgi lumen
- interterritorial matrix
- glutaminergic synapse
- lysosomal compartment
- synapse
- extracellular matrix
- perikaryon
- perineuronal net
- basement membrane
- cartilage matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ACAN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- central nervous system development
- skeletal system development
- proteolysis
- positive regulation of neuroblast proliferation
- cell adhesion
- glial cell differentiation
Cellular Component
Where in the cell the gene product is active
- extracellular space
- lysosomal lumen
- perineuronal net
- synapse
- Golgi lumen
- extracellular region
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- extracellular matrix structural constituent conferring compression resistance
- hyaluronic acid binding
- carbohydrate binding
- extracellular matrix structural constituent