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- Table of Contents
Facts about Collagen alpha-1(XVII) chain.
Human | |
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Gene Name: | COL17A1 |
Uniprot: | Q9UMD9 |
Entrez: | 1308 |
Belongs to: |
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No superfamily |
180 kDa bullous pemphigoid antigen 2; BA16H23.2; BP180; BP180alpha 1 type XVII collagen; BPA-2; BPAG2; BPAG2bA16H23.2 (collagen, type XVII, alpha 1 (BP180)); bullous pemphigoid antigen 2 (180kD); Bullous pemphigoid antigen 2; COL17A1; Collagen 17; collagen alpha-1(XVII) chain; Collagen XVII; collagen XVII, alpha-1 polypeptide; collagen, type XVII, alpha 1; Collagen-17; ERED; FLJ60881; KIAA0204; LAD-1
Mass (kDA):
150.419 kDA
Human | |
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Location: | 10q25.1 |
Sequence: | 10; NC_000010.11 (104031286..104085880, complement) |
Detected in skin (PubMed:8618013). In the cornea, it is detected in the epithelial basement membrane, the epithelial cells, and at a lower level in stromal cells (at protein level) (PubMed:25676728). Stratified squamous epithelia. Found in hemidesmosomes. Expressed in cornea, oral mucosa, esophagus, intestine, kidney collecting ducts, ureter, bladder, urethra and thymus but is absent in lung, blood vessels, skeletal muscle and nerves.
Cell junction, hemidesmosome. Membrane; Single-pass type II membrane protein. Localized along the plasma membrane of the hemidesmosome.; [120 kDa linear IgA disease antigen]: Secreted, extracellular space, extracellular matrix, basement membrane. Exclusively localized to anchoring filaments. Localized to the epidermal side of split skin.; [97 kDa linear IgA disease antigen]: Secreted, extracellular space, extracellular matrix, basement membrane. Localized in the lamina lucida beneath the hemidesmosomes.
PMID: 1324962 by Giudice G.J., et al. Cloning and primary structural analysis of the bullous pemphigoid autoantigen, BP180.
PMID: 9012408 by Gatalica B., et al. Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa.