Col27a1 - collagen, type XXVII, alpha 1 Gene
Also Known as 5730512J02Rik
Species: Mus musculus
Summary
This gene encodes the alpha-1 subunit of type XXVII Collagen, one of the low abundance fibril-forming collagens found in cartilage. The encoded protein forms a homotrimeric triple helical procollagen that undergoes proteolytic processing during fibril formation. Transgenic mice lacking a portion of the collagenous domain in the encoded protein exhibit skeletal abnormalities, chondrodysplasia and die at birth because of a lung defect. [provided by RefSeq, Dec 2015]
Col27a1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_025685.3 | NP_079961.3 | collagen alpha-1(XXVII) chain preproprotein |
| Molecular Function GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| enables extracellular matrix structural constituent |
IDA
IDA: Inferred from direct assay
|
22206015 | MGI |
| Biological Process GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| acts upstream of or within extracellular matrix organization |
IMP
IMP: Inferred from mutant phenotype
|
22206015 | MGI |
| acts upstream of or within growth plate cartilage chondrocyte development |
IMP
IMP: Inferred from mutant phenotype
|
22206015 | MGI |
| Cellular Component GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| part of fibrillar collagen trimer |
IDA
IDA: Inferred from direct assay
|
17331945 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
collagen alpha-1(XXVII) chain |
|