Recombinant Human Collagen alpha-1 (XVII) chain (COL17A1), partial

1. Suspension survival mediated by PP2A-STAT3-Col XVII determines tumor initiation and metastasis in cancer stem cells. PMID: 27306323
2. Bullous pemphigoid patients with the HLA-DQB1*03:01 allele show an increased T-cell avidity to several epitopes of BP180, particularly the BP180-NC16a domain. (Review) PMID: 28101965
3. C-terminal processing induces dynamic structural changes and neoepitopes for linear IgA dermatosis autoantibodies on COL17 PMID: 28842325
4. As a consequence of altered maturation and decreased stability of collagen XVII trimers, reduced collagen XVII is incorporated into the cell membrane, resulting in compromised dermal-epidermal adhesion. Taken together, using this genetic model, we provide the first proof that alteration of the coiled-coil structure destabilizes oligomerization and impairs physiological shedding of collagen XVII in vivo. PMID: 28365758
5. Pathogenicity of autoantibodies targeting COL17 is epitope dependent. PMID: 26827765
6. The corneal dystrophy mapped to chromosome 10q23-q24 is associated with the c.3156C>T variant in COL17A1. PMID: 27309958
7. Data suggest that type XVII collagen (COL17) internalization/macropinocytosis by keratinocytes induced by IgG autoantibodies from patients with bullous pemphigoid (BP) is mediated by PKC (protein kinase C) calcium signaling pathway; BP IgG induced overabundant phosphorylation of COL17. PMID: 27775687
8. we have produced five new versatile monoclonal antibodies against the Col 17 endodomain that are superior to ectodomain antibodies in diagnosing and differentiating between JEB-gen intermed and JEB-loc/carriers PMID: 26334130
9. Results show that aberrant epigenetic control is a key driver of COL17A1 gene misexpression and tumor cell invasion in a variety of epithelial neoplasm. These findings have significant clinical implications, suggesting that the COL17A1 promoter methylation status can be used to predict patient outcome. PMID: 27891193
10. Case Report: IgA autoantibodies targeting the NC16A domain rather than the shed ectodomains of COL17 resulted in linear IgA bullous dermatosis in a pregnant woman. PMID: 27786348
11. ELISA for IgE anti-NC16a is a helpful parameter in the modification of current treatment and the assessment of risk of relapse in bullous pemphigoid. PMID: 25791894
12. R1303Q in COL17 hampers C-terminal cleavage of COL17. Increase in remnants of non-cleaved COL17 ectodomain in extracellular matrix (ECM) induces aberrant laminin 332 deposition in ECM, which may be associated with disorganized basement membrane formation. PMID: 26604146
13. The COL17A1 c.3156C-->T variant is the likely causative mutation in our recurrent corneal erosion families, and its presence in 4 independent families suggests that it is prevalent in epithelial recurrent erosion dystrophy. PMID: 26786512
14. Elevated serum levels of BP180 antibodies in the first trimester of pregnancy precede gestational pemphigoid and remain elevated for a long time after remission of the disease. PMID: 25758329
15. Letter/Case Report: IgE BP180 antibodies contribute to the occurrence of urticarial erythema in bullous pemphigoid patients. PMID: 25771164
16. IgE anti-BP180 autoantibody level is increased in some Chinese patients with bullous pemphigoid. PMID: 25797173
17. The aging process can be recapitulated by Col17a1 deficiency and prevented by the forced maintenance of COL17A1 in hair follicle stem cell (HFSCs), demonstrating that COL17A1 in HFSCs orchestrates the stem cell-centric aging program of the epithelial mini-organ. PMID: 26912707
18. Our findings implicate presumed gain-of-function COL17A1 mutations causing dominantly inherited ERED and improve understanding of the underlying pathology. PMID: 25676728
19. Case Reports: two Japanese patients with bullous pemphigoid with only BP230 autoantibodies detected by ELISA. PMID: 24676568
20. Circulating anti-BP180 autoantibodies are not correlated with severity of genital lichen sclerosis or itching. PMID: 24676719
21. study reports for the first time the expression of collagen XVII in colon epithelium and the association of increased collagen XVII immunoexpression with poor outcome in colorectal carcinoma. PMID: 25623077
22. Variants of the PTCH1 and COL17A1 genes may contribute to the development of Ossification of the posterior longitudinal ligament. PMID: 24668667
23. Lack of C17 led to decreased melanin intensity and melanocyte density in the epidermis when compared with the revertant patches. In human skin, melanocyte supply to the epidermis depends on C17 expression in keratinocytes. PMID: 24330315
24. Missense mutation R1303Q in COL17a1 causes junctional epidermolysis bullosa phenotype similar to Kindler syndrome. PMID: 24005051
25. Titers of anti-BP180 autoantibodies were strongly correlated with BPDAI (r = 0.557, P value < 0.0001) and ABSIS (r = 0.570, P value < 0.0001) values. PMID: 23227089
26. The results of this study suggest that BP180 internalization induced by bullous pemphigoid IgG plays an important role in the initiation of disease pathogenesis. PMID: 23337823
27. found the full-length collagen XVII protein in proliferating tissue melanocytes, basal keratinocytes and squamous cell carcinoma whereas resting melanocytes were negative PMID: 22688676
28. Collagen XVII (BP180) modulates keratinocyte expression of the proinflammatory chemokine, IL-8. PMID: 22775995
29. Collagen XVII has a function in the attachment of podocyte foot processes to the glomerular basement membrane. PMID: 22457199
30. migrating keratinocytes shed the Ecto-ColXVII, and this dynamically binds via its C-terminal domain to distinct partners in the ECM PMID: 21801871
31. presence of minor amounts of collagen XVII protein in JEB skin is associated with mild phenotypic manifestations. PMID: 21357940
32. Cell surface COL17 can interact with laminin 332 and, together, participate in the adherence of a cell to the extracellular matrix. PMID: 21034821
33. Alterations in type I hemidesmosome components (BP180 and BP230) are suggestive of epigenetic control in the salivary glands of patients with Sjogren's syndrome. PMID: 21305504
34. small proportion of pregnant women produce protein-specific IgE autoantibodies PMID: 20471095
35. anti-hBPAG2 IgG was initially directed against extracelllar domain epitopes;humoral responses subsequently targeted additional extra and intracellular domain BPAG2 epitopes PMID: 19812601
36. Depletion of CD4-positive T cells as well as CD45R-positive B cells in an immunodeficient transgenic mouse model of bullous pemphigoid inhibits production of anti-human COL17 IgG antibodies in the recipients, resulting in no apparent clinical phenotype. PMID: 20089696
37. The role of collagen XVII in both autoimmune and genetic blistering disorders demonstrates its relevance to dermal-epidermal adhesion PMID: 19945617
38. We describe a Chinese family with generalized atrophic benign epidermolysis bullosa (GABEB). serine to cysteine at position 265. novel polymorphic substitution of C-to-G at nucleotide position 798 in exon 10 of the COL17A1 gene, an I233M change in BPAG2 PMID: 11912005
39. this protein, an epithelial adhesion protein, is shed from the cell surface by ADAMs PMID: 12356719
40. Mutations in the coding sequence of the human collagen XVII (COL17A1) gene are not the cause of Thiel-Behnke Corneal Dystrophy. PMID: 14562173
41. truncation of the intracellular domain of BP180 impairs the organization of hemidesmosomes, affecting both the mechanical stability of basal keratinocytes and dermoepidermal cohesion. PMID: 14962091
42. bullous pemphigoid sera reacted with at least an additional antigenic site other than the NC16A, within the extracellular (37%) and intracellular (28%) domains of BP180. PMID: 14962097
43. genetic variation in COL17A1 shows no association with susceptibility to bullous pemphigoid. PMID: 14987253
44. Dimished, but correctly localised expression of BP180 in epidermolysis bullosa; COL15 mutated BP180 is still partly functional. PMID: 15009107
45. the conformation of the NC16A domain and steric availability of the cleavage site influence shedding and is important for folding of collagen XVII PMID: 15047704
46. C-terminus of collagen XVII binds to laminin 5, revealing the role of collagen XVII in the regulation of keratinocyte migration. PMID: 15161638
47. Data show that the expression of laminin gamma2 chain and collagen type XVII is altered in endometrial adenocarcinomas. PMID: 15609083
48. expression of BP180 is related to clinical severity of bullous pemphigoid PMID: 15734283
49. Epitooe mapping of anti-BP180 immunoglobulin E autoantibodies in bullous pemphigoid. PMID: 16117787
50. Deletions in recombinant proteins affect thermal stability. PMID: 16354180

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Generalized atrophic benign epidermolysis bullosa (GABEB); Epithelial recurrent erosion dystrophy (ERED)

Cell junction, hemidesmosome. Membrane; Single-pass type II membrane protein. Note=Localized along the plasma membrane of the hemidesmosome.; [120 kDa linear IgA disease antigen]: Secreted, extracellular space, extracellular matrix, basement membrane. Note=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. Note=Localized in the lamina lucida beneath the hemidesmosomes.

Detected in skin. 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). Stratified squamous epithelia. Found in hemidesmosomes. Expressed in cornea, oral mucosa,

HGNC: 2194

OMIM: 113811

KEGG: hsa:1308

STRING: 9606.ENSP00000340937

UniGene: Hs.117938