{ "uniprot_canonical_ac": "G5E9R7-1", "uniprot_ac": "G5E9R7", "uniprot_id": "KR416_HUMAN", "mass": { "chemical_mass": 24569.0, "monoisotopic_mass": 24569.0 }, "refseq": {}, "gene_names": [ { "name": "KRTAP4-16", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/G5E9R7", "id": "G5E9R7" }, { "name": "KRTAP4-16P", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/G5E9R7", "id": "G5E9R7" }, { "name": "KRTAP4P1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/G5E9R7", "id": "G5E9R7" } ], "protein_names": [ { "name": "Putative keratin-associated protein 4-16", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "G5E9R7" }, { "name": "Keratin-associated protein 4 pseudogene 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "G5E9R7" }, { "name": "Keratin-associated protein 4-16 pseudogene", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "G5E9R7" } ], "function": [ { "annotation": "In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.", "evidence": [ { "database": "UniProtKB", "id": "G5E9R7", "url": "https://www.uniprot.org/uniprot/G5E9R7#function" }, { "database": "PubMed", "id": "15955084", "url": "https://glygen.org/publication/PubMed/15955084" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "G5E9R7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/G5E9R7" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", 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"keywords": [], "publication": [ { "title": "Size polymorphisms in the human ultrahigh sulfur hair keratin-associated protein 4, KAP4, gene family.", "journal": "The Journal of investigative dermatology", "date": "2005", "authors": "Kariya N, Shimomura Y, Ito M", "evidence": [ { "database": "UniProtKB", "id": "G5E9R7", "url": "https://www.uniprot.org/uniprot/G5E9R7" } ], "reference": [ { "type": "PubMed", "id": "15955084", "url": "https://glygen.org/publication/PubMed/15955084" } ] } ], "pathway": [], "orthologs": [], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "G5E9R7", "url": "https://www.uniprot.org/uniprot/G5E9R7" } ], "pmid": "" }, { "name": "keratin filament", "id": "GO:0045095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045095", "evidence": [ { "database": "UniProtKB", "id": "G5E9R7", 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