Col6a3 - collagen, type VI, alpha 3 Gene
Also Known as Col6a-3
Species: Mus musculus
Summary
Predicted to be an extracellular matrix structural constituent conferring tensile strength. Located in extracellular matrix; extracellular space; and sarcolemma. Part of Collagen trimer. Is expressed in several structures, including brain meninges; cardiovascular system; embryo mesenchyme; genitourinary system; and musculoskeletal system. Used to study Ullrich congenital muscular dystrophy and congenital muscular dystrophy. Human ortholog(s) of this gene implicated in Ullrich congenital muscular dystrophy; dystonia 27; and muscular dystrophy. Orthologous to human COL6A3 (Collagen type VI alpha 3 chain). [provided by Alliance of Genome Resources, Apr 2022]
Col6a3 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001243008.1 | NP_001229937.1 | collagen alpha-3(VI) chain isoform 1 precursor |
| NM_001243009.1 | NP_001229938.1 | collagen alpha-3(VI) chain isoform 2 precursor |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within neuron apoptotic process |
IDA
IDA: Inferred from direct assay
|
21459131 | MGI |
| acts upstream of or within phosphatidylinositol 3-kinase/protein kinase B signal transduction |
IDA
IDA: Inferred from direct assay
|
21459131 | MGI |
| acts upstream of or within response to UV |
IDA
IDA: Inferred from direct assay
|
21459131 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of collagen trimer |
IDA
IDA: Inferred from direct assay
|
24563484 | MGI |
| located in extracellular matrix |
IDA
IDA: Inferred from direct assay
|
8806434 | MGI |
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
10444069 | MGI |
| located in sarcolemma |
IDA
IDA: Inferred from direct assay
|
16810681 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
collagen alpha-3(VI) chain |
|
|