{ "uniprot_canonical_ac": "O14633-1", "uniprot_ac": "O14633", "uniprot_id": "LCE2B_HUMAN", "mass": { "chemical_mass": 11219.0, "monoisotopic_mass": 11219.0 }, "refseq": { "ac": "NP_055172", "name": "late cornified envelope protein 2B", "summary": "This gene is one of the at least 20 genes expressed during epidermal differentiation and located on chromosomal band 1q21. This gene is involved in epidermal differentiation, and it is expressed at high levels in normal and psoriatic skin, but not in cultured keratinocytes or in any other tested cell types or tissues. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055172" }, "gene_names": [ { "name": "LCE2B", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14633", "id": "O14633" }, { "name": "LCE2B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055172", "id": "NP_055172" }, { "name": "LEP10; SPRL1B; XP5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055172", "id": "NP_055172" }, { "name": "LEP10", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14633", "id": "O14633" }, { "name": "SPRL1B", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14633", "id": "O14633" }, { "name": "XP5", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14633", "id": "O14633" } ], "protein_names": [ { "name": "Late cornified envelope protein 2B", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14633" }, { "name": "Late envelope protein 10", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14633" }, { "name": "Skin-specific protein Xp5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14633" }, { "name": "Small proline-rich-like epidermal differentiation complex protein 1B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14633" }, { "name": "late cornified envelope protein 2B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055172", "id": "NP_055172" }, { "name": "small proline rich-like (epidermal differentiation complex) 1B; late envelope protein 10; skin-specific protein Xp5; small proline-rich-like epidermal differentiation complex protein 1B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055172", "id": "NP_055172" } ], "function": [ { "annotation": "Paper describing nomenclature changes and expression in range of tissues and in response to UV", "evidence": [ { "database": "RefSeq", "id": "NP_055172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055172" }, { "database": "PubMed", "id": "15854049", "url": "https://glygen.org/publication/PubMed/15854049" } ] }, { "annotation": "Precursors of the cornified envelope of the stratum corneum.", "evidence": [ { "database": "UniProtKB", "id": "O14633", "url": "https://www.uniprot.org/uniprot/O14633#function" } ] }, { "annotation": "This gene is one of the at least 20 genes expressed during epidermal differentiation and located on chromosomal band 1q21. This gene is involved in epidermal differentiation, and it is expressed at high levels in normal and psoriatic skin, but not in cultured keratinocytes or in any other tested cell types or tissues. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_055172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055172" } ] }, { "annotation": "XP5 is part of a cluster of genes (LEP genes) whose proteins incorporate into keratinocyte cornified envelopes. Strong skin expression confirmed.", "evidence": [ { "database": "RefSeq", "id": "NP_055172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055172" }, { "database": "PubMed", "id": "11698679", "url": "https://glygen.org/publication/PubMed/11698679" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O14633", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14633" } ], "glycoeffect": [], "start_pos": 5, "end_pos": 5, "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "Q", "sequence_mut": "R", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).", "chr_id": "1", "chr_pos": "152686857", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Q5", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "49.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000159455", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000159455" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "44.89", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000159455", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000159455" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "27.66", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000159455", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000159455" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000159455", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000159455" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "59.14", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000159455", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000159455" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "16.94", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000159455", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000159455" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000159455", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000159455" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "26.53", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000159455", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000159455" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "46.55", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000159455", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000159455" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000159455", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000159455" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "24.08", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000159455", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000159455" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "41.87", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000159455", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000159455" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "39.07", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000159455", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000159455" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O14633", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14633" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": 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"name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O14633", "url": 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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Integration with loricrin.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Candi E, Tarcsa E, Idler WW, Kartasova T, Marekov LN, Steinert PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "10066784", "url": "https://glygen.org/publication/PubMed/10066784" } ] }, { "title": "Involucrin cross-linking by transglutaminase 1. Binding to membranes directs residue specificity.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Nemes Z, Marekov LN, Steinert PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "10196183", "url": "https://glygen.org/publication/PubMed/10196183" } ] }, { "title": "Bricks and mortar of the epidermal barrier.", "journal": "Experimental & molecular medicine", "date": "1999", "authors": "Nemes Z, Steinert PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "10231017", "url": "https://glygen.org/publication/PubMed/10231017" } ] }, { "title": "A novel function for transglutaminase 1: attachment of long-chain omega-hydroxyceramides to involucrin by ester bond formation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Nemes Z, Marekov LN, Fesus L, Steinert PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "10411887", "url": "https://glygen.org/publication/PubMed/10411887" } ] }, { "title": "Initiation of assembly of the cell envelope barrier structure of stratified squamous epithelia.", "journal": "Molecular biology of the cell", "date": "1999", "authors": "Steinert PM, Marekov LN", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "10588656", "url": "https://glygen.org/publication/PubMed/10588656" } ] }, { "title": "SPRR1 gene induction and barrier formation occur as coordinated moving fronts in terminally differentiating epithelia.", "journal": "The Journal of investigative dermatology", "date": "2000", "authors": "Marshall D, Hardman MJ, Byrne C", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "10771479", "url": "https://glygen.org/publication/PubMed/10771479" } ] }, { "title": "Molecular cloning and characterization of a novel mouse epidermal differentiation gene and its promoter.", "journal": "Genomics", "date": "2001", "authors": "Wang A, Johnson DG, MacLeod MC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "11350120", "url": "https://glygen.org/publication/PubMed/11350120" } ] }, { "title": "Proprotein convertase expression and localization in epidermis: evidence for multiple roles and substrates.", "journal": "Experimental dermatology", "date": "2001", "authors": "Pearton DJ, Nirunsuksiri W, Rehemtulla A, Lewis SP, Presland RB, Dale BA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "11380615", "url": "https://glygen.org/publication/PubMed/11380615" } ] }, { "title": "Assembly of the epidermal cornified cell envelope.", "journal": "Journal of cell science", "date": "2001", "authors": "Kalinin A, Marekov LN, Steinert PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "11590230", "url": "https://glygen.org/publication/PubMed/11590230" } ] }, { "title": "Differentially expressed late constituents of the epidermal cornified envelope.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Marshall D, Hardman MJ, Nield KM, Byrne C", "evidence": [ { "database": "RefSeq", "id": "NP_055172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055172" } ], "reference": [ { "type": "PubMed", "id": "11698679", "url": "https://glygen.org/publication/PubMed/11698679" } ] }, { "title": "Fusion of lamellar body with plasma membrane is driven by the dual action of annexin II tetramer and arachidonic acid.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Chattopadhyay S, Sun P, Wang P, Abonyo B, Cross NL, Liu L", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "12902340", "url": "https://glygen.org/publication/PubMed/12902340" } ] }, { "title": "Co-assembly of envoplakin and periplakin into oligomers and Ca(2+)-dependent vesicle binding: implications for cornified cell envelope formation in stratified squamous epithelia.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Kalinin AE, Idler WW, Marekov LN, McPhie P, Bowers B, Steinert PM, Steven AC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "15033990", "url": "https://glygen.org/publication/PubMed/15033990" } ] }, { "title": "Kazrin, a novel periplakin-interacting protein associated with desmosomes and the keratinocyte plasma membrane.", "journal": "The Journal of cell biology", "date": "2004", "authors": "Groot KR, Sevilla LM, Nishi K, DiColandrea T, Watt FM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "15337775", "url": "https://glygen.org/publication/PubMed/15337775" } ] }, { "title": "Perp is a p63-regulated gene essential for epithelial integrity.", "journal": "Cell", "date": "2005", "authors": "Ihrie RA, Marques MR, Nguyen BT, Horner JS, Papazoglu C, Bronson RT, Mills AA, Attardi LD", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "15797384", "url": "https://glygen.org/publication/PubMed/15797384" } ] }, { "title": "The cornified envelope: a model of cell death in the skin.", "journal": "Nature reviews. Molecular cell biology", "date": "2005", "authors": "Candi E, Schmidt R, Melino G", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "15803139", "url": "https://glygen.org/publication/PubMed/15803139" } ] }, { "title": "Late cornified envelope family in differentiating epithelia -- response to calcium and ultraviolet irradiation.", "journal": "J. Invest. Dermatol.", "date": "2005", "authors": "Jackson B, Tilli CM, Hardman MJ, Avilion AA, MacLeod MC, Ashcroft GS, Byrne C", "evidence": [ { "database": "UniProtKB", "id": "O14633", "url": "https://www.uniprot.org/uniprot/O14633" }, { "database": "RefSeq", "id": "NP_055172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055172" } ], "reference": [ { "type": "PubMed", "id": "15854049", "url": "https://glygen.org/publication/PubMed/15854049" } ] }, { "title": "The epidermal barrier function is dependent on the serine protease CAP1/Prss8.", "journal": "The Journal of cell biology", "date": "2005", "authors": "Leyvraz C, Charles RP, Rubera I, Guitard M, Rotman S, Breiden B, Sandhoff K, Hummler E", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "16061697", "url": "https://glygen.org/publication/PubMed/16061697" } ] }, { "title": "Expression and regulation of cornified envelope proteins in human corneal epithelium.", "journal": "Investigative ophthalmology & visual science", "date": "2006", "authors": "Tong L, Corrales RM, Chen Z, Villarreal AL, De Paiva CS, Beuerman R, Li DQ, Pflugfelder SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "16639001", "url": "https://glygen.org/publication/PubMed/16639001" } ] }, { "title": "Caspase-14 protects against epidermal UVB photodamage and water loss.", "journal": "Nature cell biology", "date": "2007", "authors": "Denecker G, Hoste E, Gilbert B, Hochepied T, Ovaere P, Lippens S, Van den Broecke C, Van Damme P, D'Herde K, Hachem JP, Borgonie G, Presland RB, Schoonjans L, Libert C, Vandekerckhove J, Gevaert K, Vandenabeele P, Declercq W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { 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"evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "19190773", "url": "https://glygen.org/publication/PubMed/19190773" } ] }, { "title": "SPINK9: a selective, skin-specific Kazal-type serine protease inhibitor.", "journal": "The Journal of investigative dermatology", "date": "2009", "authors": "Brattsand M, Stefansson K, Hubiche T, Nilsson SK, Egelrud T", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "19194479", "url": "https://glygen.org/publication/PubMed/19194479" } ] }, { "title": "Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing.", "journal": "The Journal of clinical investigation", "date": "2010", "authors": "Bonnart C, Deraison C, Lacroix M, Uchida Y, Besson C, Robin A, Briot A, Gonthier M, Lamant L, Dubus P, Monsarrat B, Hovnanian A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "20179351", "url": "https://glygen.org/publication/PubMed/20179351" } ] }, { "title": "Matriptase initiates activation of epidermal pro-kallikrein and disease onset in a mouse model of Netherton syndrome.", "journal": "Nature genetics", "date": "2010", "authors": "Sales KU, Masedunskas A, Bey AL, Rasmussen AL, Weigert R, List K, Szabo R, Overbeek PA, Bugge TH", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "20657595", "url": "https://glygen.org/publication/PubMed/20657595" } ] }, { "title": "Isolation of SPINK6 in human skin: selective inhibitor of kallikrein-related peptidases.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Meyer-Hoffert U, Wu Z, Kantyka T, Fischer J, Latendorf T, Hansmann B, Bartels J, He Y, Glaser R, Schroder JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "20667819", "url": "https://glygen.org/publication/PubMed/20667819" } ] }, { "title": "Kallikrein-related peptidase-8 (KLK8) is an active serine protease in human epidermis and sweat and is involved in a skin barrier proteolytic cascade.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Eissa A, Amodeo V, Smith CR, Diamandis EP", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "20940292", "url": "https://glygen.org/publication/PubMed/20940292" } ] }, { "title": "Inhibition of kallikrein-related peptidases by the serine protease inhibitor of Kazal-type 6.", "journal": "Peptides", "date": "2011", "authors": "Kantyka T, Fischer J, Wu Z, Declercq W, Reiss K, Schroder JM, Meyer-Hoffert U", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "21439340", "url": "https://glygen.org/publication/PubMed/21439340" } ] }, { "title": "Caspase-14 is required for filaggrin degradation to natural moisturizing factors in the skin.", "journal": "The Journal of investigative dermatology", "date": "2011", "authors": "Hoste E, Kemperman P, Devos M, Denecker G, Kezic S, Yau N, Gilbert B, Lippens S, De Groote P, Roelandt R, Van Damme P, Gevaert K, Presland RB, Takahara H, Puppels G, Caspers P, Vandenabeele P, Declercq W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "21654840", "url": "https://glygen.org/publication/PubMed/21654840" } ] }, { "title": "Cuts by caspase-14 control the proteolysis of filaggrin.", "journal": "The Journal of investigative dermatology", "date": "2011", "authors": "Eckhart L, Tschachler E", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "21997417", "url": "https://glygen.org/publication/PubMed/21997417" } ] }, { "title": "Kallikrein-related peptidase 5 functions in proteolytic processing of profilaggrin in cultured human keratinocytes.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Sakabe J, Yamamoto M, Hirakawa S, Motoyama A, Ohta I, Tatsuno K, Ito T, Kabashima K, Hibino T, Tokura Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "23629652", "url": "https://glygen.org/publication/PubMed/23629652" } ] }, { "title": "Kallikrein-8 Proteolytically Processes Human Papillomaviruses in the Extracellular Space To Facilitate Entry into Host Cells.", "journal": "Journal of virology", "date": "2015", "authors": "Cerqueira C, Samperio Ventayol P, Vogeley C, Schelhaas M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "25926655", "url": "https://glygen.org/publication/PubMed/25926655" } ] }, { "title": "KLK5 Inactivation Reverses Cutaneous Hallmarks of Netherton Syndrome.", "journal": "PLoS genetics", "date": "2015", "authors": "Furio L, Pampalakis G, Michael IP, Nagy A, Sotiropoulou G, Hovnanian A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": 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