Col1a1 Gene Summary [Mouse]
This gene encodes the alpha-1 subunit of the fibril-forming type I collagen, the most abundant protein of bone, skin and tendon extracellular matrices. The encoded protein, in association with alpha-2 subunit, forms heterotrimeric type I procollagen that undergoes proteolytic processing during fibril formation. Mice lacking the encoded protein die in utero caused by the rupture of a major blood vessel. Transgenic mice expressing significantly lower levels of this gene exhibit morphological and functional defects in mineralized and non-mineralized connective tissue and, progressive loss of hearing. [provided by RefSeq, Nov 2015]
Details
| Type | Protein Coding |
| Official Symbol | Col1a1 |
| Official Name | collagen, type I, alpha 1 [Source:MGI Symbol;Acc:MGI:88467] |
| Ensembl ID | ENSMUSG00000001506 |
| Bio databases IDs | |
| Aliases | collagen, type I, alpha 1 |
| Synonyms | Alpha1-1 Collagen, alpha 1(I) COLLAGEN, alpha 1 (I) PROCOLLAGEN, Alpha1 type i collagen, Alpha1 Type I Procollagen, CAFYD, CO1A1, COL1, Col1a, Cola-1, COL I, COLIA1, COLLAGEN 1 alpha1, Collagen alpha1, COLLAGEN alpha1 (I), Collagen alpha 1(I) chain precursor, Collagen I, Collagen i-alpha, COLLAGEN I alpha1, Collagen i-α, Collagen Type1 Alpha1, Collagen type I, COLLAGEN type I alpha 1, collagen, type I, alpha 1, collagen type I alpha 1 chain, Collagen type I pro α 1, COLLAGEN type I α 1, collagen, type I, α 1, collagen type I α 1 chain, Collagen α1(I), Collagen α 1(I) chain precursor, EDSARTH1, EDSC, Mov-13, OI1, OI2, OI3, OI4, PREPRO COLLAGEN alpha1(I), PROCOLLAGEN 1alpha1, PROCOLLAGEN 1(I), Procollagen alpha1 (1), PROCOLLAGEN alpha1(I), Procollagen alpha1 type I, PROCOLLAGEN-IALPHA1, Procollagen type 1, Procollagen α 1(i), type1 alpha 1 COLLAGEN, type1 alpha1 PROCOLLAGEN, type1 α 1 COLLAGEN, Type I (alpha 1) procollagen, Type I (α 1) procollagen, α 1(I) COLLAGEN, α 1 (I) PROCOLLAGEN |
| Species | Mouse, Mus musculus |
| 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 mouse Col1a1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular matrix structural constituent conferring tensile strength
- C-propeptide domain
- protease binding
- extracellular matrix structural constituent
- signal peptide
- protein binding
- identical protein binding
- triple helical domain
- von Willebrand factor type C domain
- Fibrillar collagen C-terminal domain
- Collagen triple helix repeat (20 copies)
- MMP cleavage site
- growth factor binding
- 8-9 Fibronectin conserved module type I binding sequence
Pathways
Biological processes and signaling networks where the Col1a1 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
- Apelin Liver Signaling Pathway
- Atherosclerosis Signaling
- Dendritic Cell Maturation
- FAK Signaling
- GP6 Signaling Pathway
- Hepatic Fibrosis / Hepatic Stellate Cell Activation
- IL-12 Signaling and Production in Macrophages
- IL-17A Signaling in Fibroblasts
- IL-4 Signaling
- IL-6 Signaling
- Intrinsic Prothrombin Activation Pathway
- Natural Killer Cell Signaling
- RAR Activation
- Role of Osteoblasts, Osteoclasts and Chondrocytes in Rheumatoid Arthritis
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast cancer
- neoplasia
- adenoma formation
- epithelial neoplasia
- epithelial cancer
- cancer
- digestive system cancer
- abdominal cancer
- lung adenocarcinoma formation
- osteogenesis imperfecta type IVB
role in cell
- expression in
- number
- phosphorylation in
- quantity
- cell death
- morphology
- proliferation
- survival
- activation in
- synthesis 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
- Cytoplasm
- myofilaments
- endoplasmic reticulum lumen
- secretory granules
- extracellular matrix
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Col1a1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to hyperoxia
- protein transport
- response to cAMP
- response to xenobiotic stimulus
- skin morphogenesis
- bone trabecula formation
- skin development
- face morphogenesis
- response to mechanical stimulus
- positive regulation of epithelial to mesenchymal transition
- sensory perception of sound
- cellular response to amino acid stimulus
- skeletal system development
- response to insulin stimulus
- blood vessel development
- negative regulation of cell-substrate adhesion
- ossification
- positive regulation of transcription, DNA-dependent
- cellular response to glucose stimulus
- osteoblast differentiation
- cellular response to tumor necrosis factor
- collagen biosynthetic process
- tooth mineralization
- protein localization to nucleus
- cartilage development involved in endochondral bone morphogenesis
- positive regulation of canonical Wnt receptor signaling pathway
- cellular response to fibroblast growth factor stimulus
- response to steroid hormone stimulus
- response to hydrogen peroxide
- collagen-activated tyrosine kinase receptor signaling pathway
- embryonic skeletal system development
- visual perception
- cellular response to transforming growth factor beta stimulus
- cellular response to mechanical stimulus
- cellular response to retinoic acid
- cellular response to epidermal growth factor stimulus
- response to estradiol stimulus
- extracellular matrix organization
- intramembranous ossification
- endochondral ossification
- collagen fibril organization
- positive regulation of cell migration
- cellular response to vitamin E
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular space
- cytoplasm
- secretory granule
- collagen type I
- extracellular region
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- metal ion binding
- extracellular matrix structural constituent conferring tensile strength
- protease binding
- platelet-derived growth factor binding