| Gene Information | |
|---|---|
| Gene Name | COL12A1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 3063 |
| Protein Names | Collagen alpha-1(XII) chain |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 645 ( ENSG00000111799 ) |
| Evolutionary Stage | Vertebrata |
| AlphaFoldDB | NA |
| Gene Card | COL12A1 |
| Uniprot ID | Q99715 |
| Pfam | PF01391; PF00041; PF00092 |
| In ASD | no |
| Allosteric Prediction | no (-1.003112222) |
| Ortholog in Animals | Alpaca_ COL12A1 ( ortholog_one2one ) Dog_ COL12A1 ( ortholog_one2one ) GuineaPig_ COL12A1 ( ortholog_one2one ) Macaque_ COL12A1 ( ortholog_one2one ) Mouse_ Col12a1 ( ortholog_one2one ) Pig_ COL12A1 ( ortholog_one2one ) Rat_ Col12a1 ( ortholog_one2one ) Rabbit_ COL12A1 ( ortholog_one2one ) |
| Ohnologs | COL14A1, FN1 |
| Paralogs | COL6A6, MATN2, MATN3, MATN4, VIT, VWA1, COL6A3, MATN1, COL14A1, COL6A5, COCH, VWA2 |
| Tissue | NA |
| Tissue Specificity | Found in collagen I-containing tissues: both isoform 1 and isoform 2 appear in amnion, chorion, skeletal muscle, small intestine, and in cell culture of dermal fibroblasts, keratinocytes and endothelial cells. Only isoform 2 is found in lung, placenta, kidney and a squamous cell carcinoma cell line. Isoform 1 is also present in the corneal epithelial Bowman's membrane (BM) and the interfibrillar matrix of the corneal stroma, but it is not detected in the limbal BM. {ECO:0000269|PubMed:9344363}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs34730529 rs240736 rs200487396 rs34438461 rs35523808 rs796052093 rs35710072 rs796052094 rs57396313 rs970547 |
| Subcellular location [CC] | Secreted, extracellular space, extracellular matrix {ECO:0000250}. |
| Mouse PG classification | NA |
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