{ "uniprot_canonical_ac": "P13647-1", "uniprot_ac": "P13647", "uniprot_id": "K2C5_HUMAN", "mass": { "chemical_mass": 62378.0, "monoisotopic_mass": 62378.0 }, "refseq": { "ac": "NP_000415", "name": "keratin, type II cytoskeletal 5", "summary": "The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000415" }, "gene_names": [ { "name": "KRT5", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P13647", "id": "P13647" }, { "name": "CK5; DDD; DDD1; EBS1; EBS2; EBS2A; EBS2B; EBS2C; EBS2D; EBS2E; EBS2F; K5; KRT5A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000415", "id": "NP_000415" }, { "name": "KRT5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000415", "id": "NP_000415" } ], "protein_names": [ { "name": "Keratin, type II cytoskeletal 5", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P13647" }, { "name": "58 kDa cytokeratin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13647" }, { "name": "CK-5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13647" }, { "name": "Cytokeratin-5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13647" }, { "name": "K5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13647" }, { "name": "Keratin-5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13647" }, { "name": "Type-II keratin Kb5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13647" }, { "name": "keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types); keratin 5, type II; epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types; 58 kda cytokeratin; CK-5; cytokeratin-5; type-II keratin Kb5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000415", "id": "NP_000415" }, { "name": "keratin, type II cytoskeletal 5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000415", "id": "NP_000415" } ], "function": [ { "annotation": "Clinicopathological features of cytokeratin 5-positive pulmonary adenocarcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_000415", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000415" }, { "database": "PubMed", "id": "36239561", "url": "https://glygen.org/publication/PubMed/36239561" } ] }, { "annotation": "KRT5 mutation regulate melanin metabolism through notch signalling pathway between keratinocytes and melanocytes.", "evidence": [ { "database": "RefSeq", "id": "NP_000415", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000415" }, { "database": "PubMed", "id": "36809573", "url": "https://glygen.org/publication/PubMed/36809573" } ] }, { "annotation": "Keratin 5 in Lung Cancer Specimens: Comparison of Four Antibody Clones and KRT5 mRNA-ISH.", "evidence": [ { "database": "RefSeq", "id": "NP_000415", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000415" }, { "database": "PubMed", "id": "37212698", "url": "https://glygen.org/publication/PubMed/37212698" } ] }, { "annotation": "Lung extracellular matrix modulates KRT5[+] basal cell activity in pulmonary fibrosis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000415", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000415" }, { "database": "PubMed", "id": "37758700", "url": "https://glygen.org/publication/PubMed/37758700" } ] }, { "annotation": "Required for the formation of keratin intermediate filaments in the basal epidermis and maintenance of the skin barrier in response to mechanical stress (By similarity). Regulates the recruitment of Langerhans cells to the epidermis, potentially by modulation of the abundance of macrophage chemotactic cytokines, macrophage inflammatory cytokines and CTNND1 localization in keratinocytes (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P13647", "url": "https://www.uniprot.org/uniprot/P13647#function" }, { "database": "UniProtKB", "id": "Q922U2", "url": "https://www.uniprot.org/uniprot/Q922U2#function" } ] }, { "annotation": "The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000415", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000415" } ] } ], "disease": [ { "disease_id": "DOID:0060256", "recommended_name": { "id": "DOID:0060256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060256", "name": "Dowling-Degos disease", "description": "A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases." }, "synonyms": [ { "id": "DOID:0060256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060256", "name": "dark dot disease", "description": "" }, { "id": "DOID:0060256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060256", "name": "reticular pigment anomaly of flexures", "description": "" }, { "id": "MONDO:0024534", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024534", "name": "Dowling-Degos disease 1", "description": "Any Dowling-Degos disease in which the cause of the disease is a mutation in the KRT5 gene." }, { "id": "MONDO:0024534", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024534", "name": "Dowling-Degos disease 1", "description": "" }, { "id": "MONDO:0024534", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024534", "name": "Dowling-Degos disease caused by mutation in KRT5", "description": "" }, { "id": "MONDO:0024534", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024534", "name": "KRT5 Dowling-Degos disease", "description": "" }, { "id": "MONDO:0024534", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024534", "name": "DDD", "description": "" }, { "id": "MONDO:0024534", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024534", "name": "DDD1", "description": "" }, { "id": "MONDO:0024534", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024534", "name": "reticular pigment anomaly of flexures", "description": "" }, { "id": "MONDO:0014301", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014301", "name": "dowling-degos disease 3", "description": "" }, { "id": "MONDO:0014301", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014301", "name": "DDD3", "description": "" }, { "id": "MONDO:0014301", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014301", "name": "Dowling-Degos disease 3", "description": "" }, { "id": "MONDO:0014307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014307", "name": "Dowling-Degos disease 4", "description": "Any Dowling-Degos disease in which the cause of the disease is a mutation in the POGLUT1 gene." }, { "id": "MONDO:0014307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014307", "name": "Dowling-Degos disease 4", "description": "" }, { "id": "MONDO:0014307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014307", "name": "Dowling-Degos disease caused by mutation in POGLUT1", "description": "" }, { "id": "MONDO:0014307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014307", "name": "Dowling-Degos disease type 4", "description": "" }, { "id": "MONDO:0014307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014307", "name": "POGLUT1 Dowling-Degos disease", "description": "" }, { "id": "MONDO:0014307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014307", "name": "DDD4", "description": "" }, { "id": "MONDO:0014130", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014130", "name": "Dowling-Degos disease 2", "description": "Any Dowling-Degos disease in which the cause of the disease is a mutation in the POFUT1 gene." }, { "id": "MONDO:0014130", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014130", "name": "Dowling-Degos disease 2", "description": "" }, { "id": "MONDO:0014130", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014130", "name": "Dowling-Degos disease caused by mutation in POFUT1", "description": "" }, { "id": "MONDO:0014130", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014130", "name": "Dowling-Degos disease type 2", "description": "" }, { "id": "MONDO:0014130", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014130", "name": "POFUT1 Dowling-Degos disease", "description": "" }, { "id": "MONDO:0014130", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014130", "name": "DDD2", "description": "" }, { "id": "MIM:179850", "resource": "MIM", "url": "https://www.omim.org/entry/179850", "name": "Dowling-Degos disease 1", "description": "Dowling-Degos disease 1" }, { "id": "MIM:615696", "resource": "MIM", "url": "https://www.omim.org/entry/615696", "name": "Dowling-Degos disease 4", "description": "Dowling-Degos disease 4" }, { "id": "MIM:615327", "resource": "MIM", "url": "https://www.omim.org/entry/615327", "name": "Dowling-Degos disease 2", "description": "Dowling-Degos disease 2" } ], "evidence": [ { "id": "179850", "database": "MIM", "url": "https://www.omim.org/entry/179850" } ] }, { "disease_id": "DOID:0111346", "recommended_name": { "id": "DOID:0111346", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111346", "name": "epidermolysis bullosa simplex with mottled pigmentation", "description": "An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in KRT5 on chromosome 12q13.13." }, "synonyms": [ { "id": "DOID:0111346", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111346", "name": "EBSMP", "description": "" }, { "id": "DOID:0111346", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111346", "name": "Epidermolysis bullosa simplex-MP", "description": "" }, { "id": "DOID:0111346", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111346", "name": "speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering", "description": "" }, { "id": "MONDO:0007556", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007556", "name": "epidermolysis bullosa simplex 2F, with mottled pigmentation", "description": "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation." }, { "id": "MONDO:0007556", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007556", "name": "EBS-MP", "description": "" }, { "id": "MONDO:0007556", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007556", "name": "epidermolysis bullosa simplex 2F, with mottled pigmentation", "description": "" }, { "id": "MONDO:0007556", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007556", "name": "epidermolysis bullosa simplex with mottled pigmentation", "description": "" }, { "id": "MONDO:0007556", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007556", "name": "EBS with mottled pigmentation", "description": "" }, { "id": "MONDO:0007556", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007556", "name": "EBSMP", "description": "" }, { "id": "MONDO:0007556", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007556", "name": "speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering", "description": "" }, { "id": "MONDO:0007556", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007556", "name": "speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering", "description": "" }, { "id": "MIM:131960", "resource": "MIM", "url": "https://www.omim.org/entry/131960", "name": "Epidermolysis bullosa simplex 2F, with mottled pigmentation", "description": "Epidermolysis bullosa simplex 2F, with mottled pigmentation" } ], "evidence": [ { "id": "131960", "database": "MIM", "url": "https://www.omim.org/entry/131960" } ] }, { "disease_id": "MONDO:0012258", "recommended_name": { "id": "MONDO:0012258", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012258", "name": "epidermolysis bullosa simplex 2E, with migratory circinate erythema", "description": "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema." }, "synonyms": [ { "id": "MONDO:0012258", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012258", "name": "EBS-migr", "description": "" }, { "id": "MONDO:0012258", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012258", "name": "epidermolysis bullosa simplex 2E, with migratory circinate erythema", "description": "" }, { "id": "MONDO:0012258", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012258", "name": "epidermolysis bullosa simplex with migratory circinate erythema", "description": "" }, { "id": "MIM:609352", "resource": "MIM", "url": "https://www.omim.org/entry/609352", "name": "Epidermolysis bullosa simplex 2E, with migratory circinate erythema", "description": "Epidermolysis bullosa simplex 2E, with migratory circinate erythema" } ], "evidence": [ { "id": "609352", "database": "MIM", "url": "https://www.omim.org/entry/609352" } ] }, { "disease_id": "MONDO:0030489", "recommended_name": { "id": "MONDO:0030489", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030489", "name": "epidermolysis bullosa simplex 2A, generalized severe", "description": "" }, "synonyms": [ { "id": "MONDO:0030489", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030489", "name": "EBS2A", "description": "" }, { "id": "MIM:619555", "resource": "MIM", "url": "https://www.omim.org/entry/619555", "name": "Epidermolysis bullosa simplex 2A, generalized severe", "description": "Epidermolysis bullosa simplex 2A, generalized severe" } ], "evidence": [ { "id": "619555", "database": "MIM", "url": "https://www.omim.org/entry/619555" } ] }, { "disease_id": "MONDO:0030525", "recommended_name": { "id": "MONDO:0030525", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030525", "name": "epidermolysis bullosa simplex 2B, generalized intermediate", "description": "" }, "synonyms": [ { "id": "MONDO:0030525", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030525", "name": "EBS2B", "description": "" }, { "id": "MIM:619588", "resource": "MIM", "url": "https://www.omim.org/entry/619588", "name": "Epidermolysis bullosa simplex 2B, generalized intermediate", "description": "Epidermolysis bullosa simplex 2B, generalized intermediate" } ], "evidence": [ { "id": "619588", "database": "MIM", "url": "https://www.omim.org/entry/619588" } ] }, { "disease_id": "MONDO:0030527", "recommended_name": { "id": "MONDO:0030527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030527", "name": "epidermolysis bullosa simplex 2C, localized", "description": "" }, "synonyms": [ { "id": "MONDO:0030527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030527", "name": "EBS2C", "description": "" }, { "id": "MIM:619594", "resource": "MIM", "url": "https://www.omim.org/entry/619594", "name": "Epidermolysis bullosa simplex 2C, localized", "description": "Epidermolysis bullosa simplex 2C, localized" } ], "evidence": [ { "id": "619594", "database": "MIM", "url": "https://www.omim.org/entry/619594" } ] }, { "disease_id": "MONDO:0030535", "recommended_name": { "id": "MONDO:0030535", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030535", "name": "epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive", "description": "" }, "synonyms": [ { "id": "MONDO:0030535", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030535", "name": "EBS2D", "description": "" }, { "id": "MIM:619599", "resource": "MIM", "url": "https://www.omim.org/entry/619599", "name": "Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive", "description": "Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive" } ], "evidence": [ { "id": "619599", "database": "MIM", "url": "https://www.omim.org/entry/619599" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 399, "end_pos": 399, "sequence_org": "E", "sequence_mut": "A", "comment": "Increase in keratin-positive aggregates and keratin intermediate filament networks that are very thin and sparse with short filaments.", "evidence": [ { "database": "UniProtKB", "id": "P13647", "url": "https://www.uniprot.org/uniprot/P13647" }, { "database": "PubMed", "id": "31995743", "url": "https://glygen.org/publication/PubMed/31995743" } ] }, { "start_pos": 411, "end_pos": 411, "sequence_org": "Q", "sequence_mut": "A", "comment": "No effect on interaction with KRT14 or keratin intermediate filament networks.", "evidence": [ { "database": "UniProtKB", "id": "P13647", "url": "https://www.uniprot.org/uniprot/P13647" }, { "database": "PubMed", "id": "31995743", "url": "https://glygen.org/publication/PubMed/31995743" } ] }, { "start_pos": 412, "end_pos": 412, "sequence_org": "N", "sequence_mut": "A", "comment": "No effect on interaction with KRT14 or keratin intermediate filament networks.", "evidence": [ { "database": "UniProtKB", "id": "P13647", "url": "https://www.uniprot.org/uniprot/P13647" }, { "database": "PubMed", "id": "31995743", "url": "https://glygen.org/publication/PubMed/31995743" } ] }, { "start_pos": 422, "end_pos": 422, "sequence_org": "E", "sequence_mut": "A", "comment": "No effect on interaction with KRT14 or keratin intermediate filament networks.", "evidence": [ { "database": "UniProtKB", "id": "P13647", "url": "https://www.uniprot.org/uniprot/P13647" }, { "database": "PubMed", "id": "31995743", "url": "https://glygen.org/publication/PubMed/31995743" } ] }, { "start_pos": 437, "end_pos": 437, "sequence_org": "E", "sequence_mut": "A", "comment": "No effect on interaction with KRT14 or keratin intermediate filament networks.", "evidence": [ { "database": "UniProtKB", "id": "P13647", "url": "https://www.uniprot.org/uniprot/P13647" }, { "database": "PubMed", "id": "31995743", "url": "https://glygen.org/publication/PubMed/31995743" } ] }, { "start_pos": 440, "end_pos": 440, "sequence_org": "Q", "sequence_mut": "A", "comment": "No effect on interaction with KRT14 or keratin intermediate filament networks.", "evidence": [ { "database": "UniProtKB", "id": "P13647", "url": "https://www.uniprot.org/uniprot/P13647" }, { "database": "PubMed", "id": "31995743", "url": "https://glygen.org/publication/PubMed/31995743" } ] }, { "start_pos": 444, "end_pos": 444, "sequence_org": "Q", "sequence_mut": "A", "comment": "No effect on interaction with KRT14 or keratin intermediate filament networks.", "evidence": [ { "database": "UniProtKB", "id": "P13647", "url": "https://www.uniprot.org/uniprot/P13647" }, { "database": "PubMed", "id": "31995743", "url": "https://glygen.org/publication/PubMed/31995743" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "62.62", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000186081", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186081" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "99.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186081", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186081" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "29.63", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000186081", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186081" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000186081", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186081" } ] }, { "tissue": { "name": "Esophagus", "namespace": 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"Ser21" }, { "start_pos": 24, "end_pos": 24, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine; by CDK1", "evidence": [ { "database": "UniProtKB", "id": "P13647", "url": "https://www.uniprot.org/uniprot/P13647" } ], "site_lbl": "Thr24" }, { "start_pos": 26, "end_pos": 26, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P13647", "url": "https://www.uniprot.org/uniprot/P13647" } ], "site_lbl": "Ser26" }, { "start_pos": 359, "end_pos": 359, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P13647", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13647" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser359" }, { "start_pos": 361, "end_pos": 361, 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"comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P13647", "url": "https://www.uniprot.org/uniprot/P13647" } ], "site_lbl": "Ser5" }, { "start_pos": 60, "end_pos": 60, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P13647", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13647" }, { "database": "PubMed", "id": "17389395", "url": "https://glygen.org/publication/PubMed/17389395" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "phospho.ELM", "id": "P13647", "url": "http://phospho.elm.eu.org/byAccession/P13647.html" } ], "site_lbl": "Tyr60" }, { "start_pos": 64, "end_pos": 64, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P13647", "url": "https://www.uniprot.org/uniprot/P13647" } ], 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"https://www.uniprot.org/uniprot/P13647" } ], "site_lbl": "Ser75" }, { "start_pos": 82, "end_pos": 82, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P13647", "url": "https://www.uniprot.org/uniprot/P13647" } ], "site_lbl": "Ser82" }, { "start_pos": 8, "end_pos": 8, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P13647", "url": "https://www.uniprot.org/uniprot/P13647" } ], "site_lbl": "Ser8" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Transglutaminase cross-linking properties of the small proline-rich 1 family of cornified cell envelope proteins. 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": "Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients.", "journal": "American journal of medical genetics", "date": "1999", "authors": "Moog U, de Die-Smulders CE, Scheffer H, van der Vlies P, Henquet CJ, Jonkman MF", "evidence": [ { "database": "UniProtKB", "id": "P13647", "url": "https://www.uniprot.org/uniprot/P13647" } ], "reference": [ { "type": "PubMed", "id": "10494094", "url": "https://glygen.org/publication/PubMed/10494094" } ] }, { "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": "The N terminus of the transmembrane protein BP180 interacts with the N-terminal domain of BP230, thereby mediating keratin cytoskeleton anchorage to the cell surface at the site of the hemidesmosome.", "journal": "Molecular biology of the cell", "date": "2000", "authors": "Hopkinson SB, Jones JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-446107", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446107" } ], "reference": [ { "type": "PubMed", "id": "10637308", "url": "https://glygen.org/publication/PubMed/10637308" } ] }, { "title": "Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential.", "journal": "The British journal of dermatology", "date": "2000", "authors": "Shemanko CS, Horn HM, Keohane SG, Hepburn N, Kerr AI, Atherton DJ, Tidman MJ, Lane EB", "evidence": [ { "database": "UniProtKB", "id": "P13647", "url": "https://www.uniprot.org/uniprot/P13647" } ], "reference": [ { "type": "PubMed", "id": "10730767", "url": "https://glygen.org/publication/PubMed/10730767" } ] }, { "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": "K5 D328E: a novel missense mutation in the linker 12 domain of keratin 5 associated with epidermolysis bullosa simplex (Weber-Cockayne).", "journal": "Human heredity", "date": "2000", "authors": "Liovic M, Podrumac B, Dragos V, Vouk K, Komel R", "evidence": [ { "database": "UniProtKB", "id": "P13647", "url": "https://www.uniprot.org/uniprot/P13647" } ], "reference": [ { "type": "PubMed", "id": "10782015", "url": "https://glygen.org/publication/PubMed/10782015" } ] }, { "title": "The tetraspan molecule CD151, a novel constituent of hemidesmosomes, associates with the integrin alpha6beta4 and may regulate the spatial organization of hemidesmosomes.", "journal": "The Journal of cell biology", "date": "2000", "authors": "Sterk LM, Geuijen CA, Oomen LC, Calafat J, Janssen H, Sonnenberg A", "evidence": [ { "database": "Reactome", "id": "R-HSA-446107", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446107" } ], "reference": [ { "type": "PubMed", "id": "10811835", "url": "https://glygen.org/publication/PubMed/10811835" } ] }, { "title": "Interaction of plakophilins with desmoplakin and intermediate filament proteins: an in vitro analysis.", "journal": "J. Cell Sci.", "date": "2000", "authors": "Hofmann I, Mertens C, Brettel M, Nimmrich V, Schn\u00f6lzer M, Herrmann H", "evidence": [ { "database": "UniProtKB", "id": "P13647", "url": "https://www.uniprot.org/uniprot/P13647" } ], "reference": [ { "type": "PubMed", "id": "10852826", "url": "https://glygen.org/publication/PubMed/10852826" } ] }, { "title": "Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2000", "authors": "Whittock N V, Eady R A, McGrath J A", "evidence": [ { "database": "UniProtKB", "id": "P13647", "url": "https://www.uniprot.org/uniprot/P13647" } ], "reference": [ { "type": "PubMed", "id": "10903910", "url": "https://glygen.org/publication/PubMed/10903910" } ] }, { "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": "A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes.", "journal": "The Journal of investigative dermatology", "date": "2001", "authors": "Liovic M, Stojan J, Bowden PE, Gibbs D, Vahlquist A, Lane EB, Komel R", "evidence": [ { "database": "UniProtKB", "id": "P13647", "url": "https://www.uniprot.org/uniprot/P13647" } ], "reference": [ { "type": "PubMed", "id": "11407988", "url": "https://glygen.org/publication/PubMed/11407988" } ] }, { "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": "Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Yasukawa K, Sawamura D, McMillan JR, Nakamura H, Shimizu H", "evidence": [ { "database": "UniProtKB", "id": "P13647", "url": "https://www.uniprot.org/uniprot/P13647" } ], "reference": [ { "type": "PubMed", "id": "11973334", "url": "https://glygen.org/publication/PubMed/11973334" } ] }, { "title": "Analysis of the interactions between BP180, BP230, plectin and the integrin alpha6beta4 important for hemidesmosome assembly.", "journal": "Journal of cell science", "date": "2003", "authors": "Koster J, Geerts D, Favre B, Borradori L, Sonnenberg A", "evidence": [ { "database": "Reactome", "id": "R-HSA-446107", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446107" } ], "reference": [ { "type": "PubMed", "id": "12482924", "url": "https://glygen.org/publication/PubMed/12482924" } ] }, { "title": "Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.", "journal": "Human mutation", "date": "2003", "authors": "Schuilenga-Hut PH, Vlies Pv, Jonkman MF, Waanders E, Buys CH, Scheffer H", "evidence": [ { "database": "UniProtKB", "id": "P13647", "url": "https://www.uniprot.org/uniprot/P13647" } ], "reference": [ { "type": "PubMed", "id": "12655565", "url": "https://glygen.org/publication/PubMed/12655565" } ] }, { "title": "Epidermolysis bullosa simplex in Israel: clinical and genetic features.", "journal": "Archives of dermatology", "date": "2003", "authors": "Ciubotaru D, Bergman R, Baty D, Indelman M, Pfendner E, Petronius D, Moualem H, Kanaan M, Ben Amitai D, McLean WH, Uitto J, Sprecher E", "evidence": [ { "database": "UniProtKB", "id": "P13647", "url": "https://www.uniprot.org/uniprot/P13647" } ], "reference": [ { "type": "PubMed", "id": "12707098", "url": "https://glygen.org/publication/PubMed/12707098" } ] }, { "title": "Interaction of the bullous pemphigoid antigen 1 (BP230) and desmoplakin with intermediate filaments is mediated by distinct sequences within their COOH terminus.", "journal": "Molecular biology of the cell", "date": "2003", "authors": "Fontao L, Favre B, Riou S, Geerts D, Jaunin F, Saurat JH, Green KJ, Sonnenberg A, Borradori L", "evidence": [ { "database": "Reactome", "id": "R-HSA-446107", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446107" } ], "reference": [ { "type": "PubMed", "id": "12802069", "url": "https://glygen.org/publication/PubMed/12802069" } ] }, { "title": "Fusion of lamellar body with plasma membrane is driven by the dual action of 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Invest. 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