ASPN Gene Summary [Human]
This gene encodes a cartilage extracellular protein that is member of the small leucine-rich proteoglycan family. The encoded protein may regulate chondrogenesis by inhibiting transforming growth factor-beta 1-induced gene expression in cartilage. This protein also binds collagen and calcium and may induce collagen mineralization. Polymorphisms in the aspartic acid repeat region of this gene are associated with a susceptibility to osteoarthritis, and also with intervertebral disc disease. Alternative splicing of this gene results in multiple transcript variants.[provided by RefSeq, Jul 2014]
Details
| Type | Protein Coding |
| Official Symbol | ASPN |
| Official Name | asporin [Source:HGNC Symbol;Acc:HGNC:14872] |
| Ensembl ID | ENSG00000106819 |
| Bio databases IDs | |
| Aliases | asporin, asporin proteoglycan |
| Synonyms | 4631401G09Rik, Aspnl1, Asporin, OS3, PLAP-1, SLRR1C |
| 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 ASPN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein phosphatase 1 regulatory subunit 42
- calcium ion binding
- Leucine rich repeat
- protein binding
- Leucine rich repeat N-terminal domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- colorectal cancer
- gastric cancer
- gastric adenocarcinoma
- neoplasia
- colorectal neoplasm
- keratocystic odontogenic tumor
- keratocystic odontogenic tumors
- gastric epithelial cancer
- adenoma formation
- organismal death
role in cell
- differentiation
- apoptosis
- activation in
- binding in
- number
- morphology
- abnormal morphology
- colony formation by
- mineralization
- diameter
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
- cell surface
- extracellular matrix
- cellular protrusions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ASPN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of tooth mineralization
- bone mineralization
- negative regulation of transforming growth factor beta receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- extracellular space
- extracellular matrix
- cell projection
Molecular Function
What the gene product does at the molecular level
- calcium ion binding
- extracellular matrix structural constituent conferring compression resistance