COL6A1 Gene Summary [Human]
The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | COL6A1 |
| Official Name | collagen type VI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2211] |
| Ensembl ID | ENSG00000142156 |
| Bio databases IDs | |
| Aliases | collagen type VI alpha 1 chain |
| Synonyms | BTHLM1, BTHLM1A, CO6A1, COLLAGEN alpha1(VI), collagen, type VI, alpha 1, collagen type VI alpha 1 chain, collagen, type VI, α 1, collagen type VI α 1 chain, OPLL, PROCOLLAGEN type VI alpha1, RGD1565398, UCHMD1, UCHMD1A |
| 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 COL6A1 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
- NC1 domain
- triple helical domain
- noncollagenous domain
- von Willebrand factor (vWF) type A domain
- vWFA
- collagen binding
- Collagen triple helix repeat (20 copies)
- von Willebrand factor type A domain
- protein binding
- growth factor binding
Pathways
Biological processes and signaling networks where the COL6A1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- cancer
- adenoma formation
- hepatocellular carcinoma
- colorectal cancer
- head and neck squamous cell cancer
- head and neck squamous cell carcinoma
- Dupuytren contracture
- Ullrich congenital muscular dystrophy
- Bethlem myopathy type 1
role in cell
- growth
- apoptosis
- cell death
- differentiation
- proliferation
- migration
- autophagy by
- development
- organization
- size
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
- intracellular membrane-bounded organelle
- sarcoplasmic reticulum
- vesicles
- lysosome
- endoplasmic reticulum lumen
- sperm tail
- myofibrils
- sarcolemma
- extracellular matrix
- basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human COL6A1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lung epithelial cell differentiation
- extracellular matrix assembly
- muscle system process
- single fertilization
- response to toxin
- lung alveolus development
- inflammatory response
- myelination in peripheral nervous system
- mitochondrial depolarization
- hair follicle development
- autophagy
- muscle cell apoptotic process
- sensory perception of mechanical stimulus
- neuron apoptotic process
- collagen metabolic process
- caveola assembly
- apoptotic nuclear change
- cell morphogenesis
- glycolysis
- insulin-like growth factor receptor signaling pathway
- tricarboxylic acid cycle
- circadian rhythm
- response to reactive oxygen species
- respiratory system process
- tissue remodeling
- endodermal cell differentiation
- gene expression
- multicellular organismal locomotion
- cartilage development
- insulin receptor signaling pathway
- regulation of cell size
- uterus development
- response to wounding
- response to UV
- cell adhesion
- response to xenobiotic stimulus
- reduction of food intake in response to dietary excess
- 2-oxoglutarate metabolic process
- skeletal muscle tissue regeneration
- bone development
- response to mechanical stimulus
- lung morphogenesis
- response to pain
- cellular response to amino acid stimulus
- heart development
- protein kinase B signaling cascade
- skeletal muscle fiber development
- protein tetramerization
- fat cell proliferation
- osteoblast differentiation
- basement membrane organization
- canonical Wnt receptor signaling pathway
- transmission of nerve impulse
- response to muscle activity
- bone mineralization
- limb joint morphogenesis
- energy reserve metabolic process
- mitochondrion organization
- adipose tissue development
- reactive oxygen species metabolic process
- homeostasis of number of cells
- skeletal muscle tissue growth
- response to lipopolysaccharide
- collagen fibril organization
Cellular Component
Where in the cell the gene product is active
- sarcoplasmic reticulum
- extracellular region
- collagen type VI
- lysosomal membrane
- endoplasmic reticulum lumen
- basement membrane
- extracellular vesicular exosome
- sarcolemma
- mitochondrion
- membrane
- macromolecular complex
- myofibril
Molecular Function
What the gene product does at the molecular level
- collagen binding
- extracellular matrix structural constituent conferring tensile strength
- platelet-derived growth factor binding