Col5a1 - collagen, type V, alpha 1 Gene
Species: Mus musculus
Summary
An extracellular matrix structural constituent. Acts upstream of or within several processes, including circulatory system development; Collagen fibril organization; and tendon development. Located in basement membrane. Part of Collagen trimer. Is expressed in several structures, including embryo mesenchyme; extraembryonic component; genitourinary system; heart; and skeleton. Used to study Ehlers-Danlos syndrome classic type 1. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome and Ehlers-Danlos syndrome classic type 1. Orthologous to human COL5A1 (Collagen type V alpha 1 chain). [provided by Alliance of Genome Resources, Apr 2022]
Col5a1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_015734.2 | NP_056549.2 | collagen alpha-1(V) chain precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables extracellular matrix structural constituent |
IDA
IDA: Inferred from direct assay
|
15383546 | MGI |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
14676276 | MGI |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within blood vessel development |
IMP
IMP: Inferred from mutant phenotype
|
16492673 | MGI |
| acts upstream of or within collagen fibril organization |
IGI
IGI: Inferred from genetic interaction
|
17029294 | MGI |
| acts upstream of or within collagen fibril organization |
IMP
IMP: Inferred from mutant phenotype
|
15383546 | MGI |
| acts upstream of or within heart morphogenesis |
IGI
IGI: Inferred from genetic interaction
|
17029294 | MGI |
| acts upstream of or within regulation of cellular component organization |
IMP
IMP: Inferred from mutant phenotype
|
15383546 | MGI |
| acts upstream of or within skin development |
IMP
IMP: Inferred from mutant phenotype
|
15383546 | MGI |
| acts upstream of or within tendon development |
IGI
IGI: Inferred from genetic interaction
|
21467034 | MGI |
| acts upstream of or within tendon development |
IMP
IMP: Inferred from mutant phenotype
|
21467034 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in basement membrane |
IDA
IDA: Inferred from direct assay
|
14676276 | MGI |
| part of collagen trimer |
IDA
IDA: Inferred from direct assay
|
15383546 | MGI |
| part of collagen trimer |
IMP
IMP: Inferred from mutant phenotype
|
16492673 | MGI |
| located in extracellular matrix |
IDA
IDA: Inferred from direct assay
|
17029294 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
collagen alpha-1(V) chain |
|
|