CRTAP Gene Summary [Human]
The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | CRTAP |
| Official Name | cartilage associated protein [Source:HGNC Symbol;Acc:HGNC:2379] |
| Ensembl ID | ENSG00000170275 |
| Bio databases IDs | |
| Aliases | cartilage associated protein, leprecan-like 3, prolyl 3-hydroxylase family member 5 (non-enzymatic) |
| Synonyms | 5730529N23Rik, cartilage associated protein, CASP, Crtapl1, LEPREL3, LOC100653071, LOC100910835, LOC108348127, LOC253263, OI7, P3H5, RGD1565180 |
| 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 CRTAP often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- coiled-coil domain
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- multiple sclerosis
- osteogenesis imperfecta type IIB
- osteogenesis imperfecta
- growth failure
- retinal detachment
- kyphoscoliosis
- hepatitis A
- major depression
- allergic asthma
- osteoporosis
role in cell
- number
- invasion by
- signaling in
- function
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
- perinuclear region
- Endoplasmic Reticulum
- endoplasmic reticulum lumen
- extracellular matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CRTAP gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- spermatogenesis
- chaperone-mediated protein folding
- peptidyl-proline hydroxylation to 3-hydroxy-L-proline
- collagen fibril organization
- protein stabilization
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular space
- endoplasmic reticulum
- macromolecular complex
Molecular Function
What the gene product does at the molecular level
- protein binding
- collagen binding