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
phenotypes
- abnormal adipose tissue distribution
- abnormal aorta elastic tissue morphology
- abnormal aorta tunica adventitia morphology
- abnormal autopod morphology
- abnormal blood gas level
- abnormal blood vessel morphology
- abnormal bone collagen fibril morphology
- abnormal bone healing
- abnormal bone mineralization
- abnormal bone trabecula morphology
- abnormal cardiovascular system physiology
- abnormal cell cycle checkpoint function
- abnormal cell morphology
- abnormal chest morphology
- abnormal coat/hair pigmentation
- abnormal compact bone lamellar structure
- abnormal compact bone morphology
- abnormal cranium morphology
- abnormal cutaneous collagen fibril morphology
- abnormal dental pulp cavity morphology
- abnormal dentin mineralization
- abnormal dermal layer morphology
- abnormal digestive system morphology
- abnormal digit morphology
- abnormal endoplasmic reticulum morphology
- abnormal enzyme/coenzyme level
- abnormal extracellular matrix morphology
- abnormal femur morphology
- abnormal fertility/fecundity
- abnormal fibula morphology
- abnormal forelimb morphology
- abnormal forelimb zeugopod morphology
- abnormal gait
- abnormal heart electrocardiography waveform feature
- abnormal heart septum morphology
- abnormal hormone level
- abnormal humerus morphology
- abnormal ischium morphology
- abnormal limb bone morphology
- abnormal limb morphology
- abnormal liver morphology
- abnormal locomotor behavior
- abnormal long bone morphology
- abnormal maxilla morphology
- abnormal mechanical nociception
- abnormal mitosis
- abnormal mitotic spindle morphology
- abnormal motor coordination/ balance
- abnormal myocardium layer morphology
- abnormal myometrium morphology
- abnormal neurocranium morphology
- abnormal olecranon morphology
- abnormal osteoblast differentiation
- abnormal osteoblast morphology
- abnormal osteoblast physiology
- abnormal osteoclast physiology
- abnormal osteocyte lacuna morphology
- abnormal osteocyte morphology
- abnormal pelvic girdle bone morphology
- abnormal pubis morphology
- abnormal rib morphology
- abnormal skeleton morphology
- abnormal tail movements
- abnormal tendon collagen fibril morphology
- abnormal thoracic cage shape
- abnormal tibia morphology
- abnormal trabecular bone morphology
- abnormal turbinate morphology
- abnormal uterus morphology
- abnormal vertebral body morphology
- abnormal vertebral column morphology
- aneuploidy
- aneurysm
- aortic dissection
- arthritis
- atlanto-occipital joint dislocation
- big ears
- broad face
- chromosomal instability
- coarse hair
- decreased body length
- decreased body size
- decreased body weight
- decreased bone mass
- decreased bone mineral content
- decreased bone mineral density
- decreased bone mineralization
- decreased bone ossification
- decreased bone strength
- decreased bone trabecula number
- decreased bone trabecular spacing
- decreased bone volume
- decreased circulating alkaline phosphatase level
- decreased circulating glucose level
- decreased circulating insulin level
- decreased collagen level
- decreased compact bone thickness
- decreased diameter of femur
- decreased hydroxyproline level
- decreased length of long bones
- decreased litter size
- decreased neuronal stem cell self-renewal
- decreased percent body fat/body weight
- decreased skin tensile strength
- decreased susceptibility to age related obesity
- decreased susceptibility to diet-induced obesity
- decreased susceptibility to hepatic steatosis
- decreased susceptibility to injury
- decreased tendon stiffness
- decreased thermal nociceptive threshold
- decreased total body fat amount
- decreased trabecular bone thickness
- decreased trabecular bone volume
- decreased ventricle muscle contractility
- decreased vertical activity
- delayed bone ossification
- delayed female fertility
- delayed sexual maturation
- delayed vaginal opening
- embryonic growth arrest
- embryonic lethality during organogenesis complete penetrance
- embryonic lethality complete penetrance
- failure of bone resorption
- focal hair loss
- fragile skeleton
- fused carpal bones
- heart right ventricle hypertrophy
- hemorrhage
- hindlimb paralysis
- hypoactivity
- impaired hearing
- improved glucose tolerance
- increased QRS amplitude
- increased body length
- increased body size
- increased body weight
- increased bone mineral density
- increased bone resorption
- increased bone trabecular spacing
- increased cell proliferation
- increased circulating parathyroid hormone level
- increased growth rate
- increased hepatocyte proliferation
- increased insulin sensitivity
- increased lean body mass
- increased litter size
- increased lung tumor incidence
- increased osteoblast apoptosis
- increased osteoblast cell number
- increased osteocyte apoptosis
- increased susceptibility to age-related hearing loss
- increased tumor incidence
- intracranial hemorrhage
- joint contracture
- kyphoscoliosis
- kyphosis
- liver hyperplasia
- lung hemorrhage
- lung inflammation
- myocardium hypertrophy
- neonatal lethality complete penetrance
- neonatal lethality incomplete penetrance
- no abnormal phenotype detected
- ocular hypertension
- oligodactyly
- osteoarthritis
- osteopetrosis
- osteophytes
- postnatal lethality incomplete penetrance
- premature death
- prenatal lethality complete penetrance
- preweaning lethality incomplete penetrance
- pulmonary alveolar hemorrhage
- respiratory distress
- rib fractures
- scoliosis
- short femur
- short limbs
- short vertebral body
- skin hyperplasia
- small pancreatic islets
- spinal hemorrhage
- syndactyly
- thick dermal layer
- thick neurocranium
- thick skin
- thin body
- thin neurocranium
- thin ribs
- thin tail
- weakness
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