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COL12A1 Q99715

XII型胶原α-1链

蛋白质信息 (UniProt)

XII型胶原α-1链

Q99715

功能描述

XII型胶原与含I型胶原的原纤维相互作用,COL1结构域可能结合于原纤维表面,而COL2和NC3结构域可能定位于原纤维周围基质中。 {ECO:0000250}。

组织特异性

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.

亚细胞定位

Secreted, extracellular space, extracellular matrix

关键词

Alternative splicing Cell adhesion Collagen Congenital muscular dystrophy Direct protein sequencing Disease variant Disulfide bond Extracellular matrix Glycoprotein Hydroxylation