{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nCOL17A1 encodes collagen XVII, a type II transmembrane glycoprotein that is a critical component of hemidesmosomes in basal keratinocytes. It functions to anchor the epidermis to the underlying basement membrane and is essential for maintaining epithelial integrity and stem cell homeostasis (for example, in regulating hair follicle stem cell aging). In addition, collagen XVII undergoes constitutive ectodomain shedding mediated by metalloproteinases and serine proteases—a process that modulates keratinocyte motility and extracellular matrix organization, thereby participating in tissue regeneration and remodeling (see also the detailed biochemical insights into its shedding and glycosylation dynamics)."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "8"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAutoimmune targeting of collagen XVII plays a central role in the pathogenesis of bullous pemphigoid. In this disorder, pathogenic IgG and IgE autoantibodies recognise epitopes not only within the immunodominant extracellular NC16A domain but also in additional regions of COL17A1. Such binding triggers internalization of the protein—often by macropinocytosis—which results in depletion of cell surface collagen XVII and compromises epithelial adhesion. Moreover, serial analyses of epitope-specific humoral responses have revealed that antibody titers correlate with disease activity, underscoring collagen XVII’s importance as a major autoantigen in blistering skin diseases."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "9", "end_ref": "20"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMutational and expression analyses have broadened our understanding of COL17A1 beyond autoimmunity. Genetic alterations—including missense mutations, premature termination codons, and splicing defects—can impair collagen XVII’s proper folding, glycosylation, and proteolytic processing, thereby disrupting hemidesmosome assembly and predisposing to junctional epidermolysis bullosa and related blistering disorders. Furthermore, aberrant expression of collagen XVII has been detected in other tissues such as the brain, kidney, and cornea, and in various malignancies including melanoma, colorectal carcinoma, and breast cancer. In these contexts, dysregulated COL17A1 influences cell adhesion, migration, invasion, and even tumor initiation, highlighting its multifaceted role in both normal tissue homeostasis and disease."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "21", "end_ref": "33"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nRegulation of COL17A1 function further involves post‐translational modifications and structural integrity that govern its shedding and intracellular signaling. Extracellular phosphorylation, for example, can inhibit proteolytic cleavage by masking sheddase-binding sites, while specific glycine substitutions or deletions may destabilize its collagenous triple helix and impair hemidesmosome formation. Such molecular insights have revealed that disruptions in COL17A1’s intracellular and extracellular domains contribute to a spectrum of clinical phenotypes ranging from mild blistering disorders to enhanced tumor invasiveness. In turn, these findings offer promising avenues for targeted therapies aimed at modulating cell proliferation, inflammation, and adhesion in both autoimmune and neoplastic diseases."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "34", "end_ref": "41"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Hiroyuki Matsumura, Yasuaki Mohri, Nguyen Thanh Binh, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Hair follicle aging is driven by transepidermal elimination of stem cells via COL17A1 proteolysis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Science (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/science.aad4395"}], "href": "https://doi.org/10.1126/science.aad4395"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26912707"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26912707"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Claus-Werner Franzke, Kaisa Tasanen, Heike Schäcke, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Transmembrane collagen XVII, an epithelial adhesion protein, is shed from the cell surface by ADAMs."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO J (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/emboj/cdf532"}], "href": "https://doi.org/10.1093/emboj/cdf532"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12356719"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12356719"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Kaisa Tasanen, Lucy Tunggal, Gretel Chometon, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Keratinocytes from patients lacking collagen XVII display a migratory phenotype."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Pathol (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/S0002-9440(10)63762-5"}], "href": "https://doi.org/10.1016/S0002-9440(10"}, {"type": "t", "text": "63762-5) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15161638"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15161638"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Claus-Werner Franzke, Kaisa Tasanen, Luca Borradori, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Epitope-Dependent Pathogenicity of Antibodies Targeting a Major Bullous Pemphigoid Autoantigen Collagen XVII/BP180."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Invest Dermatol (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jid.2015.11.030"}], "href": "https://doi.org/10.1016/j.jid.2015.11.030"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26827765"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26827765"}]}, {"type": "r", "ref": 19, "children": [{"type": "t", "text": "Hiroaki Iwata, Mayumi Kamaguchi, Hideyuki Ujiie, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Collagen XVII is expressed in human CNS neurons."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Matrix Biol (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.matbio.2005.11.004"}], "href": "https://doi.org/10.1016/j.matbio.2005.11.004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16387484"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16387484"}]}, {"type": "r", "ref": 22, "children": [{"type": "t", "text": "T Krenacs, G Kiszner, E Stelkovics, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Collagen XVII is expressed in malignant but not in benign melanocytic tumors and it can mediate antibody induced melanoma apoptosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Histochem Cell Biol (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00418-012-0981-9"}], "href": "https://doi.org/10.1007/s00418-012-0981-9"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22688676"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22688676"}]}, {"type": "r", "ref": 23, "children": [{"type": "t", "text": "Allan Seppänen, Tiina Suuronen, Silke C Hofmann, et al. 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