HAPLN1 Gene Summary [Human]
Predicted to enable hyaluronic acid binding activity. Predicted to be an extracellular matrix structural constituent conferring compression resistance. Predicted to be involved in central nervous system development and skeletal system development. Colocalizes with collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | HAPLN1 |
| Official Name | hyaluronan and proteoglycan link protein 1 [Source:HGNC Symbol;Acc:HGNC:2380] |
| Ensembl ID | ENSG00000145681 |
| Bio databases IDs | |
| Aliases | hyaluronan and proteoglycan link protein 1, Cartilage link protein |
| Synonyms | BB099155, CLP, CRT1, CRTL1, Crtl1l, hyaluronan and proteoglycan link protein 1, Link, LP, LP-1 |
| 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 HAPLN1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- B loop
- Link_Domain
- Immunoglobulin V-Type
- immunoglobulin domain
- B' loop
- Immunoglobulin like
- Extracellular link domain
- hyaluronic acid binding
- structural molecule
- Immunoglobulin V-set domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- prostate cancer
- epithelial cancer
- organismal death
- diabetic nephropathy
- Hutchinson-Gilford progeria syndrome
- prostatic carcinoma
- platyspondyly
- aortic valve calcification
- survival
- disproportionate dwarfism
regulated by
- LY294002
- U0126
- forskolin
- tetradecanoylphorbol acetate
- dexamethasone
- wortmannin
- sirolimus
- H89
- thapsigargin
- TNF
role in cell
- expression in
- cell viability
- number
- epithelial-mesenchymal transition
- invasion by
- sphere formation by
- colonization 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.
- Extracellular Space
- interterritorial matrix
- Cytoplasm
- synapse
- extracellular matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HAPLN1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- skeletal system development
- central nervous system development
- positive regulation of neuroblast proliferation
- cell adhesion
- glial cell differentiation
Cellular Component
Where in the cell the gene product is active
- extracellular space
- perineuronal net
- synapse
- extracellular matrix
- extracellular region
Molecular Function
What the gene product does at the molecular level
- extracellular matrix structural constituent conferring compression resistance
- hyaluronic acid binding