{ "uniprot_canonical_ac": "P02533-1", "uniprot_ac": "P02533", "uniprot_id": "K1C14_HUMAN", "mass": { "chemical_mass": 51561.0, "monoisotopic_mass": 51561.0 }, "refseq": { "ac": "NP_000517", "name": "keratin, type I cytoskeletal 14", "summary": "This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000517" }, "gene_names": [ { "name": "KRT14", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P02533", "id": "P02533" }, { "name": "CK14; EBS1; EBS1A; EBS1B; EBS1C; EBS1D; EBS3; EBS4; K14; NFJ", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000517", "id": "NP_000517" }, { "name": "KRT14", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000517", "id": "NP_000517" } ], "protein_names": [ { "name": "Keratin, type I cytoskeletal 14", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P02533" }, { "name": "CK-14", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02533" }, { "name": "Cytokeratin-14", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02533" }, { "name": "K14", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02533" }, { "name": "Keratin-14", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02533" }, { "name": "cytokeratin 14; keratin 14, type I", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000517", "id": "NP_000517" }, { "name": "keratin, type I cytoskeletal 14", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000517", "id": "NP_000517" } ], "function": [ { "annotation": "EZH2-H3K27me3 mediated KRT14 upregulation promotes TNBC peritoneal metastasis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000517", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000517" }, { "database": "PubMed", "id": "36446780", "url": "https://glygen.org/publication/PubMed/36446780" } ] }, { "annotation": "Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex due to KLHL24 Gain-of-Function Variants.", "evidence": [ { "database": "RefSeq", "id": "NP_000517", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000517" }, { "database": "PubMed", "id": "35031308", "url": "https://glygen.org/publication/PubMed/35031308" } ] }, { "annotation": "The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro.", "evidence": [ { "database": "UniProtKB", "id": "P02533", "url": "https://www.uniprot.org/uniprot/P02533#function" }, { "database": "PubMed", "id": "11724817", "url": "https://glygen.org/publication/PubMed/11724817" } ] }, { "annotation": "This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000517", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000517" } ] } ], "disease": [ { "disease_id": "DOID:0060735", "recommended_name": { "id": "DOID:0060735", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060735", "name": "epidermolysis bullosa simplex Dowling-Meara type", "description": "An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases." }, "synonyms": [ { "id": "DOID:0060735", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060735", "name": "EBS-gen sev", "description": "" }, { "id": "DOID:0060735", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060735", "name": "EBSDM", "description": "" }, { "id": "DOID:0060735", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060735", "name": "epidermolysis bullosa herpetiformis Dowling-Meara type", "description": "" }, { "id": "DOID:0060735", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060735", "name": "epidermolysis bullosa simplex, herpetiformis", "description": "" }, { "id": "DOID:0060735", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060735", "name": "generalized severe epidermolysis bullosa simplex", "description": "" }, { "id": "MONDO:0007550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007550", "name": "epidermolysis bullosa simplex 1A, generalized severe", "description": "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration." }, { "id": "MONDO:0007550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007550", "name": "EBS, generalised severe", "description": "" }, { "id": "MONDO:0007550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007550", "name": "EBS, generalized severe", "description": "" }, { "id": "MONDO:0007550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007550", "name": "EBS-gen sev", "description": "" }, { "id": "MONDO:0007550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007550", "name": "EBSDM", "description": "" }, { "id": "MONDO:0007550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007550", "name": "epidermolysis bullosa herpetiformis Dowling-Meara type", "description": "" }, { "id": "MONDO:0007550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007550", "name": "epidermolysis bullosa simplex 1A, generalized severe", "description": "" }, { "id": "MONDO:0007550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007550", "name": "epidermolysis bullosa simplex Dowling-Meara type", "description": "" }, { "id": "MONDO:0007550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007550", "name": "epidermolysis bullosa simplex, herpetiformis", "description": "" }, { "id": "MONDO:0007550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007550", "name": "generalised severe epidermolysis bullosa simplex", "description": "" }, { "id": "MONDO:0007550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007550", "name": "generalized severe epidermolysis bullosa simplex", "description": "" }, { "id": "MONDO:0007550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007550", "name": "Dowling-Meara type epidermolysis bullosa simplex", "description": "" }, { "id": "MONDO:0007550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007550", "name": "EBS-DM", "description": "" }, { "id": "MONDO:0007550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007550", "name": "epidermolysis bullosa herpetiformis, Dowling-Meara type", "description": "" }, { "id": "MONDO:0007550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007550", "name": "epidermolysis bullosa simplex, Dowling-Meara type", "description": "" }, { "id": "MONDO:0007550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007550", "name": "epidermolysis bullosa simplex, generalised severe", "description": "" }, { "id": "MONDO:0007550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007550", "name": "epidermolysis bullosa simplex, generalized severe", "description": "" }, { "id": "MIM:131760", "resource": "MIM", "url": "https://www.omim.org/entry/131760", "name": "Epidermolysis bullosa simplex 1A, generalized severe", "description": "Epidermolysis bullosa simplex 1A, generalized severe" } ], "evidence": [ { "id": "131760", "database": "MIM", "url": "https://www.omim.org/entry/131760" } ] }, { "disease_id": "DOID:0080510", "recommended_name": { "id": "DOID:0080510", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080510", "name": "epidermolysis bullosa simplex localized type", "description": "An epidermolysis bullosa simplex that is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet." }, "synonyms": [ { "id": "DOID:0080510", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080510", "name": "epidermolysis bullosa simplex Weber-Cockayne type", "description": "" }, { "id": "MONDO:0007551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007551", "name": "epidermolysis bullosa simplex 1C, localized", "description": "A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather." }, { "id": "MONDO:0007551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007551", "name": "EBS-loc", "description": "" }, { "id": "MONDO:0007551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007551", "name": "epidermolysis bullosa simplex 1C, localized", "description": "" }, { "id": "MONDO:0007551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007551", "name": "epidermolysis bullosa simplex of palms and soles", "description": "" }, { "id": "MONDO:0007551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007551", "name": "epidermolysis bullosa simplex, Weber-Cockayne type", "description": "" }, { "id": "MONDO:0007551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007551", "name": "localised epidermolysis bullosa simplex", "description": "" }, { "id": "MONDO:0007551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007551", "name": "localized epidermolysis bullosa simplex", "description": "" }, { "id": "MONDO:0007551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007551", "name": "EBS, acral form", "description": "" }, { "id": "MONDO:0007551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007551", "name": "Weber-Cockayne syndrome", "description": "" }, { "id": "MONDO:0007551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007551", "name": "Weber-Cockayne type epidermolysis bullosa simplex", "description": "" }, { "id": "MONDO:0007551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007551", "name": "epidermolysis bullosa of hands and feet", "description": "" }, { "id": "MONDO:0007551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007551", "name": "epidermolysis bullosa simplex, localised", "description": "" }, { "id": "MONDO:0007551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007551", "name": "epidermolysis bullosa simplex, localized", "description": "" }, { "id": "MIM:131800", "resource": "MIM", "url": "https://www.omim.org/entry/131800", "name": "Epidermolysis bullosa simplex 1C, localized", "description": "Epidermolysis bullosa simplex 1C, localized" } ], "evidence": [ { "id": "131800", "database": "MIM", "url": "https://www.omim.org/entry/131800" } ] }, { "disease_id": "DOID:0080511", "recommended_name": { "id": "DOID:0080511", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080511", "name": "epidermolysis bullosa simplex generalized type", "description": "An epidermolysis bullosa simplex that is characterized by widespread blisters that appear at birth or in early infancy." }, "synonyms": [ { "id": "DOID:0080511", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080511", "name": "epidermolysis bullosa simplex Koebner type", "description": "" }, { "id": "MONDO:0007554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007554", "name": "epidermolysis bullosa simplex 1B, generalized intermediate", "description": "Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction." }, { "id": "MONDO:0007554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007554", "name": "EBS, generalised intermediate", "description": "" }, { "id": "MONDO:0007554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007554", "name": "EBS, generalized intermediate", "description": "" }, { "id": "MONDO:0007554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007554", "name": "epidermolysis bullosa simplex 1B, generalized intermediate", "description": "" }, { "id": "MONDO:0007554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007554", "name": "epidermolysis bullosa simplex, Kobner type", "description": "" }, { "id": "MONDO:0007554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007554", "name": "epidermolysis bullosa simplex, Koebner type", "description": "" }, { "id": "MONDO:0007554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007554", "name": "epidermolysis bullosa simplex, Kbner type", "description": "" }, { "id": "MONDO:0007554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007554", "name": "generalised EBS, non-Dowling-Meara type", "description": "" }, { "id": "MONDO:0007554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007554", "name": "generalised epidermolysis bullosa simplex, non-Dowling-Meara type", "description": "" }, { "id": "MONDO:0007554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007554", "name": "generalized EBS, non-Dowling-Meara type", "description": "" }, { "id": "MONDO:0007554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007554", "name": "generalized epidermolysis bullosa simplex, non-Dowling-Meara type", "description": "" }, { "id": "MONDO:0007554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007554", "name": "EBS, generalised", "description": "" }, { "id": "MONDO:0007554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007554", "name": "EBS, generalized", "description": "" }, { "id": "MONDO:0007554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007554", "name": "EBS-K", "description": "" }, { "id": "MONDO:0007554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007554", "name": "epidermolysis bullosa simplex, generalised", "description": "" }, { "id": "MONDO:0007554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007554", "name": "epidermolysis bullosa simplex, generalised intermediate", "description": "" }, { "id": "MONDO:0007554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007554", "name": "epidermolysis bullosa simplex, generalised non-Dowling-Meara", "description": "" }, { "id": "MONDO:0007554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007554", "name": "epidermolysis bullosa simplex, generalized", "description": "" }, { "id": "MONDO:0007554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007554", "name": "epidermolysis bullosa simplex, generalized intermediate", "description": "" }, { "id": "MONDO:0007554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007554", "name": "epidermolysis bullosa simplex, generalized non-Dowling-Meara", "description": "" }, { "id": "MONDO:0007554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007554", "name": "generalised EBS", "description": "" }, { "id": "MONDO:0007554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007554", "name": "generalized EBS", "description": "" }, { "id": "MIM:131900", "resource": "MIM", "url": "https://www.omim.org/entry/131900", "name": "Epidermolysis bullosa simplex 1B, generalized intermediate", "description": "Epidermolysis bullosa simplex 1B, generalized intermediate" } ], "evidence": [ { "id": "131900", "database": "MIM", "url": "https://www.omim.org/entry/131900" } ] }, { "disease_id": "DOID:0111342", "recommended_name": { "id": "DOID:0111342", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111342", "name": "dermatopathia pigmentosa reticularis", "description": "An ectodermal dysplasia characterized by reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2." }, "synonyms": [ { "id": "DOID:0111342", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111342", "name": "DPR", "description": "" }, { "id": "MONDO:0007445", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007445", "name": "dermatopathia pigmentosa reticularis", "description": "" }, { "id": "MONDO:0007445", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007445", "name": "dermatopathia pigmentosa reticularis", "description": "" }, { "id": "MONDO:0007445", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007445", "name": "DPR", "description": "" }, { "id": "MIM:125595", "resource": "MIM", "url": "https://www.omim.org/entry/125595", "name": "Dermatopathia pigmentosa reticularis", "description": "Dermatopathia pigmentosa reticularis" } ], "evidence": [ { "id": "125595", "database": "MIM", "url": "https://www.omim.org/entry/125595" } ] }, { "disease_id": "DOID:0111528", "recommended_name": { "id": "DOID:0111528", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111528", "name": "Naegeli-Franceschetti-Jadassohn syndrome", "description": "A ectodermal dysplasia characterized by reticulate hyperpigmentation that made fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2." }, "synonyms": [ { "id": "DOID:0111528", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111528", "name": "NFJ syndrome", "description": "" }, { "id": "DOID:0111528", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111528", "name": "Naegeli syndrome", "description": "" }, { "id": "MONDO:0008059", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008059", "name": "Naegeli-Franceschetti-Jadassohn syndrome", "description": "Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth." }, { "id": "MONDO:0008059", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008059", "name": "NFJ syndrome", "description": "" }, { "id": "MONDO:0008059", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008059", "name": "Naegeli syndrome", "description": "" }, { "id": "MONDO:0008059", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008059", "name": "Naegeli-Franceschetti-Jadassohn syndrome", "description": "" }, { "id": "MONDO:0008059", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008059", "name": "NAEGELI syndrome", "description": "" }, { "id": "MONDO:0008059", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008059", "name": "NAEGELI-Franceschetti-Jadassohn syndrome", "description": "" }, { "id": "MONDO:0008059", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008059", "name": "NFJS", "description": "" }, { "id": "MONDO:0008059", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008059", "name": "Nfj syndrome", "description": "" }, { "id": "MONDO:0008059", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008059", "name": "reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy", "description": "" }, { "id": "MIM:161000", "resource": "MIM", "url": "https://www.omim.org/entry/161000", "name": "Naegeli-Franceschetti-Jadassohn syndrome", "description": "Naegeli-Franceschetti-Jadassohn syndrome" } ], "evidence": [ { "id": "161000", "database": "MIM", "url": "https://www.omim.org/entry/161000" } ] }, { "disease_id": "DOID:4644", "recommended_name": { "id": "DOID:4644", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4644", "name": "epidermolysis bullosa simplex", "description": "An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin." }, "synonyms": [ { "id": "MONDO:0010976", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010976", "name": "epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive", "description": "A basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering." }, { "id": "MONDO:0010976", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010976", "name": "EBS, autosomal recessive K14", "description": "" }, { "id": "MONDO:0010976", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010976", "name": "EBS-AR KRT14", "description": "" }, { "id": "MONDO:0010976", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010976", "name": "KRT14-related autosomal recessive EBS", "description": "" }, { "id": "MONDO:0010976", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010976", "name": "KRT14-related autosomal recessive epidermolysis bullosa simplex", "description": "" }, { "id": "MONDO:0010976", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010976", "name": "KRT14-related epidermolysis bullosa simplex", 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"" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": 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"id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P02533", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02533" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02533" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"MTTCSRQFTSSSSMKGSCGIGGGIGGGSSRISSVLAGGSCRAPSTYGGGLSVSSSRFSSGGACGLGGGYGGGFSSSSSSFGSGFGGGYGGGLGAGLGGGFGGGFAGGDGLLVGSEKVTMQNLNDRLASYLDKVRALEEANADLEVKIRDWYQRQRPAEIKDYSPYFKTIEDLRNKILTATVDNANVLLQIDNARLAADDFRTKYETELNLRMSVEADINGLRRVLDELTLARADLEMQIESLKEELAYLKKNHEEEMNALRGQVGGDVNVEMDAAPGVDLSRILNEMRDQYEKMAEKNRKDAEEWFFTKTEELNREVATNSELVQSGKSEISELRRTMQNLEIELQSQLSMKASLENSLEETKGRYCMQLAQIQEMIGSVEEQLAQLRCEMEQQNQEYKILLDVKTRLEQEIATYRRLLEGEDAHLSSSQFSSGSQSSRDVTSSSRQIRTKVMDVHDGKVVSTHEQVLRTKN", "length": 472, "header": "sp|P02533-1|K1C14_HUMAN Isoform 1 of Keratin, type I cytoskeletal 14 OS=Homo sapiens OX=9606 GN=KRT14 PE=1 SV=4 CANONICAL=P02533-1" }, "locus": { "chromosome": "17", "start_pos": 41586834, "end_pos": 41582438, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000167586.7", "url": "https://www.ensembl.org/id/ENST00000167586.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000167586.6", "url": "https://www.ensembl.org/id/ENSP00000167586.6" } ] } } ], 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"", "evidence": [ { "database": "iPTMnet", "id": "P02533", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02533" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Ser433" }, { "start_pos": 435, "end_pos": 435, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P02533", "url": "https://www.uniprot.org/uniprot/P02533" }, { "database": "iPTMnet", "id": "P02533", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02533" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser435" }, { "start_pos": 438, "end_pos": 438, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P02533", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02533" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser438" } ], "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": "A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex.", "journal": "The British journal of dermatology", "date": "1999", "authors": "Sasaki Y, Shimizu H, Akiyama M, Hiraoka Y, Takizawa Y, Yamada S, Morishima Y, Yamanishi K, Aiso S, Nishikawa T", "evidence": [ { "database": "UniProtKB", "id": "P02533", "url": "https://www.uniprot.org/uniprot/P02533" } ], "reference": [ { "type": "PubMed", "id": "10583131", "url": "https://glygen.org/publication/PubMed/10583131" } ] }, { "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": "P02533", "url": "https://www.uniprot.org/uniprot/P02533" } ], "reference": [ { "type": "PubMed", "id": "10730767", "url": "https://glygen.org/publication/PubMed/10730767" } ] }, { "title": "Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis.", "journal": "The Journal of investigative dermatology", "date": "2000", "authors": "Hut PH, v d Vlies P, Jonkman MF, Verlind E, Shimizu H, Buys CH, Scheffer H", "evidence": [ { "database": "UniProtKB", "id": "P02533", "url": "https://www.uniprot.org/uniprot/P02533" } ], "reference": [ { "type": "PubMed", "id": "10733662", "url": "https://glygen.org/publication/PubMed/10733662" } ] }, { "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": "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": "DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex.", "journal": "Prenatal diagnosis", "date": "2000", "authors": "Rugg EL, Baty D, Shemanko CS, Magee G, Polak S, Bergman R, Kadar T, Boxer M, Falik-Zaccai T, Borochowitz Z, Lane EB", "evidence": [ { "database": "UniProtKB", "id": "P02533", "url": "https://www.uniprot.org/uniprot/P02533" } ], "reference": [ { "type": "PubMed", "id": "10820403", "url": "https://glygen.org/publication/PubMed/10820403" } ] }, { "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": "P02533", "url": "https://www.uniprot.org/uniprot/P02533" } ], "reference": [ { "type": "PubMed", "id": "10852826", "url": "https://glygen.org/publication/PubMed/10852826" } ] }, { "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": "Keratin attenuates tumor necrosis factor-induced cytotoxicity through association with TRADD.", "journal": "J. Cell Biol.", "date": "2001", "authors": "Inada H, Izawa I, Nishizawa M, Fujita E, Kiyono T, Takahashi T, Momoi T, Inagaki M", "evidence": [ { "database": "UniProtKB", "id": "P02533", "url": "https://www.uniprot.org/uniprot/P02533" } ], "reference": [ { "type": "PubMed", "id": "11684708", "url": "https://glygen.org/publication/PubMed/11684708" } ] }, { "title": "Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes.", "journal": "The Journal of investigative dermatology", "date": "2001", "authors": "Cummins RE, Klingberg S, Wesley J, Rogers M, Zhao Y, Murrell DF", "evidence": [ { "database": "UniProtKB", "id": "P02533", "url": "https://www.uniprot.org/uniprot/P02533" } ], "reference": [ { "type": "PubMed", "id": "11710919", "url": "https://glygen.org/publication/PubMed/11710919" } ] }, { "title": "The nonhelical tail domain of keratin 14 promotes filament bundling and enhances the mechanical properties of keratin intermediate filaments in vitro.", "journal": "The Journal of cell biology", "date": "2001-11-26", "authors": "Bousquet O, Ma L, Yamada S, Gu C, Idei T, Takahashi K, Wirtz D, Coulombe P A", "evidence": [ { "database": "UniProtKB", "id": "P02533", "url": "https://www.uniprot.org/uniprot/P02533" } ], "reference": [ { "type": "PubMed", "id": "11724817", "url": "https://glygen.org/publication/PubMed/11724817" } ] }, { "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": "Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients.", "journal": "The Journal of investigative dermatology", "date": "2003", "authors": "Wood P, Baty DU, Lane EB, McLean WH", "evidence": [ { "database": "UniProtKB", "id": "P02533", "url": "https://www.uniprot.org/uniprot/P02533" } ], "reference": [ { "type": "PubMed", "id": "12603865", "url": "https://glygen.org/publication/PubMed/12603865" } ] }, { "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": "P02533", "url": "https://www.uniprot.org/uniprot/P02533" } ], "reference": [ { "type": "PubMed", "id": "12655565", "url": "https://glygen.org/publication/PubMed/12655565" } ] }, { "title": "Epidermolysis bullosa 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