Col4a1 - collagen, type IV, alpha 1 Gene
Also Known as Bru; Raw; Svc; Col4a-1
Species: Mus musculus
Summary
This gene encodes the alpha-1 subunit of the type IV collagens, an essential component of basement membranes. The encoded protein forms a triple helical heterotrimer comprised of two alpha-1 and one alpha-2 subunits that assembles into a type IV Collagen network. This gene is located adjacent to the gene encoding alpha-2 subunit. Mice lacking both the alpha-1 and alpha-2 subunits of Collagen IV die in utero due to structural deficiencies in the basement membranes and certain mutations in this gene cause perinatal cerebral hemorrhage and porencephaly. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2015]
Col4a1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_009931.2 | NP_034061.2 | collagen alpha-1(IV) chain precursor |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within cellular response to amino acid stimulus |
IDA
IDA: Inferred from direct assay
|
20548288 | MGI |
| acts upstream of or within collagen-activated tyrosine kinase receptor signaling pathway |
IGI
IGI: Inferred from genetic interaction
|
10970885 | MGI |
| acts upstream of or within neuromuscular junction development |
IMP
IMP: Inferred from mutant phenotype
|
17418794 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in basement membrane |
IDA
IDA: Inferred from direct assay
|
11511678 | MGI |
| part of collagen type IV trimer |
IDA
IDA: Inferred from direct assay
|
12101409 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
collagen alpha-1(IV) chain |
|
|