COL27A1

COL27A1

Target · Fibrillar collagen

COL27A1 Collagen type XXVII alpha 1 chain · Collagen alpha-1(XXVII) chain

COL27A1 (collagen type XXVII alpha 1 chain, also known as KIAA1870) is a secreted fibrillar collagen of the extracellular matrix. It plays a role in the calcification of cartilage and the transition of cartilage to bone. Browse Assay Genie's current range of COL27A1 research reagents below, or read on for the biology behind the target.

Extracellular matrix proteinFibrillar collagen familyLinked to Steel syndrome
1860 aa
Protein length
~187 kDa
Molecular weight
9q32
Gene locus
Fibrillar collagen
Protein family
Target information

What is COL27A1 (collagen type XXVII alpha 1 chain)?

COL27A1 is a member of the fibrillar collagen family and is secreted into the extracellular matrix. Its recognised function is in the calcification of cartilage and in the transition of cartilage to bone, which makes the COL27A1 protein a point of interest in skeletal development and matrix biology.

The COL27A1 gene encodes a preproprotein. This begins with an N-terminal signal peptide, followed by an N-terminal propeptide, the mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide forms a major triple-helical region. The C-terminal propeptide, also called the COLFI domain, plays crucial roles in tissue growth and repair. Alternatively spliced transcript variants have been reported, although the full-length nature of some of them has not been determined.

The protein is also listed as collagen alpha-1(XXVII) chain, and earlier names include collagen, type XXVII, alpha 1. Other aliases are KIAA1870, MGC11337 and FLJ11895. HGNC places the gene in the fibrillar collagens group and also in the group of microRNA protein coding host genes. Mutations in COL27A1 cause Steel syndrome. Orthologues are found in mouse and rat, both named Col27a1.

Cartilage to bone transition

COL27A1 contributes to cartilage calcification and the transition of cartilage to bone, so it is relevant to studies of endochondral ossification.

Extracellular matrix biology

As a secreted fibrillar collagen, COL27A1 is studied alongside other matrix components to understand collagen assembly and tissue structure.

Steel syndrome genetics

Mutations in COL27A1 cause Steel syndrome, making the gene a focus for work on the genetic basis of this condition.

Tissue growth and repair

The C-terminal COLFI propeptide plays crucial roles in tissue growth and repair, which links COL27A1 to research on collagen processing.

Background

COL27A1 frequently asked questions

What does COL27A1 do?

COL27A1 is a secreted fibrillar collagen of the extracellular matrix. It plays a role in the calcification of cartilage and the transition of cartilage to bone. Its C-terminal propeptide, the COLFI domain, plays crucial roles in tissue growth and repair.

What other names and forms does COL27A1 have?

COL27A1 is also called collagen alpha-1(XXVII) chain, KIAA1870, MGC11337 and FLJ11895, and was formerly named collagen, type XXVII, alpha 1. It is made as a preproprotein, and alternatively spliced transcript variants have been found.

Is COL27A1 linked to disease and conserved in other species?

Mutations in the COL27A1 gene cause Steel syndrome. Orthologues named Col27a1 exist in mouse and rat, so rodent models can be used to study the gene. Check the datasheet of any product for its validated reactivity.

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Related targets

Other collagen family members, including fibrillar collagens and cartilage-associated collagens, with products at Assay Genie.

Gene and protein annotations from HGNC, NCBI Gene and UniProt Q8IZC6; product specifications from Assay Genie datasheets.

COL27A1 Product listing