| Gene Symbol |
COL12A1
|
| Entrez Gene |
1303
|
| Alt Symbol |
BA209D8.1, COL12A1L, DJ234P15.1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
collagen, type XII, alpha 1
|
| Other Description |
collagen alpha-1(XII) chain|collagen type XII proteoglycan
|
| Swissprots |
Q5VYK2 Q71UR3 O43853 Q15955 Q99715 Q5VYK1 Q99716
|
| Accessions |
AAC83578 EAW48748 EAW48749 EAW48750 Q99715 AI752603 AJ420501 AK057081 AK307558 BC034534 BC034715 BC050587 AAH50587 BC146868 AAI46869 BP286308 DA661773 U68139 AAC01506 U73778 AAC51244 U73779 AAD40483 XM_011535434 XP_011533736 XM_011535435 XP_011533737 XM_011535436 XP_011533738 NM_004370 NP_004361 NM_080645 NP_542376
|
| Function |
Type XII collagen interacts with type I collagen- containing fibrils, the COL1 domain could be associated with the surface of the fibrils, and the COL2 and NC3 domains may be localized in the perifibrillar matrix. {ECO:0000250}.
|
| Subcellular Location |
Secreted, extracellular space, extracellular matrix {ECO:0000250}.
|
| 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}.
|
| Top Pathways |
Protein digestion and absorption
|