COL17A1
COL17A1 (collagen type XVII alpha 1 chain) encodes the alpha chain of collagen XVII, a transmembrane collagen also known as BP180 or BPAG2. It is a structural component of hemidesmosomes and contributes to dermal-epidermal cohesion. Browse Assay Genie's current range of COL17A1 research reagents below, or read on for the biology behind the target.
COL17A1 encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. It is a structural component of hemidesmosomes, the multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. UniProt describes it as an anchoring filament component involved in dermal-epidermal cohesion, and its annotated locations include the hemidesmosome, the membrane and the basement membrane of the extracellular matrix.
Two homotrimeric forms of type XVII collagen exist. The full-length form is the transmembrane protein. A soluble form, referred to as the ectodomain or LAD-1, is generated by proteolytic processing of the full-length form. The 120 kDa linear IgA disease antigen described in UniProt corresponds to this shed ectodomain. Researchers studying the COL17A1 gene or the COL17A1 protein therefore need to consider both the membrane-bound and soluble forms.
The protein is also called BP180 and BPAG2, and the gene was previously named collagen, type XVII, alpha 1. HGNC places it among the transmembrane collagens and among the microRNA protein coding host genes. Mutations in the gene are associated with both generalised atrophic benign and junctional epidermolysis bullosa, and the protein is the target of autoantibodies in linear IgA bullous dermatosis. These disease links make it a frequent subject in skin biology and autoimmune blistering research.
Collagen XVII is a structural component of hemidesmosomes, making it central to studies of keratinocyte adhesion to the basement membrane.
Mutations in COL17A1 are associated with generalised atrophic benign and junctional epidermolysis bullosa, so the gene is studied in inherited skin fragility.
The soluble ectodomain, the linear IgA disease antigen, is the target of autoantibodies in linear IgA bullous dermatosis.
A soluble ectodomain, LAD-1, is generated by proteolytic processing of the full-length protein, allowing study of membrane protein processing.
COL17A1 encodes the alpha chain of collagen XVII, a structural component of hemidesmosomes at the dermal-epidermal basement membrane zone. These complexes mediate adhesion of keratinocytes to the underlying membrane, and collagen XVII contributes to dermal-epidermal cohesion as an anchoring filament component.
BP180 and BPAG2 are alternative names for collagen XVII, encoded by COL17A1. LAD-1 refers to the soluble ectodomain released by proteolytic processing of the full-length transmembrane protein. UniProt also calls this fragment the 120 kDa linear IgA disease antigen.
Mutations in COL17A1 are associated with generalised atrophic benign and junctional epidermolysis bullosa, and the protein is an autoantibody target in linear IgA bullous dermatosis. A mouse ortholog, Col17a1, exists; check the datasheet of any product for its validated reactivity.
Other collagens, including transmembrane and basement membrane-associated family members, with products at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt Q9UMD9; product specifications from Assay Genie datasheets.