{
    "uniprot_canonical_ac": "A1A580-1", 
    "sequence": {
        "header": "sp|A1A580-1|KR231_HUMAN Isoform 1 of Keratin-associated protein 23-1  OS=Homo sapiens OX=9606 GN=KRTAP23-1 PE=1 SV=1 CANONICAL=A1A580-1", 
        "length": 65, 
        "sequence": "MSYNCCCGNFSSHSCEGYLCYSGYSRGGSSYPSNLVYSTEPLISQHLPAGFLSLQGLSGDLLGNP"
    }, 
    "uniprot_id": "KR231_HUMAN", 
    "enzyme_annotation": [], 
    "synonyms": {
        "protein": {
            "refseq": [
                "keratin-associated protein 23-1"
            ], 
            "uniprotkb": [
                "Keratin-associated protein 23-1"
            ]
        }, 
        "gene": {
            "refseq": [
                "KRTAP23-1", 
                "KAP23.1"
            ], 
            "uniprotkb": [
                "KRTAP23-1", 
                "KAP23.1"
            ]
        }
    }, 
    "keywords": [], 
    "species": [
        {
            "evidence": [
                {
                    "url": "https://www.uniprot.org/uniprot/A1A580", 
                    "id": "A1A580", 
                    "database": "UniProtKB"
                }
            ], 
            "name": "Homo sapiens", 
            "taxid": 9606
        }
    ], 
    "recommendedname": {
        "full": "Keratin-associated protein 23-1."
    }, 
    "publication": [
        {
            "title": "Characterization of a first domain of human high glycine-tyrosine and high sulfur keratin-associated protein (KAP) genes on chromosome 21q22.1.", 
            "url": "https://www.ncbi.nlm.nih.gov/pubmed/12359730", 
            "journal": "The Journal of biological chemistry", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_853655.1", 
                    "id": "NP_853655.1", 
                    "database": "RefSeq"
                }
            ], 
            "authors": "Rogers MA, Langbein L, Winter H, Ehmann C, Praetzel S, Schweizer J", 
            "date": "2002", 
            "pmid": "12359730"
        }
    ], 
    "glycosylation": [], 
    "mutation": [
        {
            "start_pos": 10, 
            "subjects_positive": "16", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1A580", 
                    "id": "A1A580", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "1.1", 
            "annotation": "Filters passed (2/5): patient freq. (1.1%); patient count (16/1514).", 
            "sequence_org": "F", 
            "disease": {
                "doid": "1324", 
                "url": "http://disease-ontology.org/term/DOID:1324", 
                "icd10": "", 
                "name": "Lung cancer"
            }, 
            "sequence_mut": "V", 
            "subjects_tested": "1514", 
            "end_pos": 10, 
            "type": "Point mutation"
        }
    ], 
    "isoforms": [
        {
            "url": "https://www.uniprot.org/uniprot/A1A580#A1A580-1", 
            "isoform_ac": "A1A580-1", 
            "locus": {
                "end_pos": 30348412, 
                "start_pos": 30348606, 
                "chromosome": "21", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENST00000334160", 
                        "id": "ENST00000334160", 
                        "database": "Ensembl Transcript"
                    }, 
                    {
                        "url": "https://www.ensembl.org/id/ENSP00000346536", 
                        "id": "ENSP00000346536", 
                        "database": "Ensembl Peptide"
                    }
                ]
            }, 
            "sequence": {
                "header": "sp|A1A580-1|KR231_HUMAN Isoform 1 of Keratin-associated protein 23-1  OS=Homo sapiens OX=9606 GN=KRTAP23-1 PE=1 SV=1 CANONICAL=A1A580-1", 
                "length": 65, 
                "sequence": "MSYNCCCGNFSSHSCEGYLCYSGYSRGGSSYPSNLVYSTEPLISQHLPAGFLSLQGLSGDLLGNP"
            }
        }
    ], 
    "pathway": [
        {
            "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:337963", 
            "resource": "KEGG Pathway", 
            "id": "hsa:337963", 
            "name": ""
        }, 
        {
            "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6805567", 
            "resource": "Reactome", 
            "id": "R-HSA-6805567", 
            "name": "Keratinization"
        }
    ], 
    "function": [
        {
            "url": "https://www.uniprot.org/uniprot/A1A580#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": [
                {
                    "url": "https://www.uniprot.org/uniprot/A1A580#function", 
                    "id": "A1A580", 
                    "database": "UniProtKB"
                }
            ]
        }
    ], 
    "orthologs": [], 
    "refseq": {
        "url": "https://www.ncbi.nlm.nih.gov/protein/NP_853655.1", 
        "ac": "NP_853655.1", 
        "name": "keratin-associated protein 23-1.", 
        "summary": ""
    }, 
    "go_annotation": {
        "categories": [
            {
                "go_terms": [
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A1A580", 
                                "id": "A1A580", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "cytosol", 
                        "id": "GO:0005829"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005882", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A1A580", 
                                "id": "A1A580", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "intermediate filament", 
                        "id": "GO:0005882"
                    }
                ], 
                "total": 2, 
                "name": "Cellular Component"
            }, 
            {
                "go_terms": [
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031424", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A1A580", 
                                "id": "A1A580", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "keratinization", 
                        "id": "GO:0031424"
                    }
                ], 
                "total": 1, 
                "name": "Biological Process"
            }
        ]
    }, 
    "site_annotation": [
        {
            "end_pos": 11, 
            "annotation": "n_glycosylation_sequon", 
            "start_pos": 9
        }
    ], 
    "crossref": [
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_853655.1", 
            "id": "NP_853655.1", 
            "database": "RefSeq"
        }, 
        {
            "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18928", 
            "id": "18928", 
            "database": "HGNC"
        }, 
        {
            "url": "https://pharos.nih.gov/targets/A1A580", 
            "id": "A1A580", 
            "database": "PHAROS"
        }, 
        {
            "url": "https://www.nextprot.org/entry/NX_A1A580", 
            "id": "NX_A1A580", 
            "database": "neXtProt"
        }, 
        {
            "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=KRTAP23-1", 
            "id": "KRTAP23-1", 
            "database": "GeneCards"
        }, 
        {
            "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6805567", 
            "id": "R-HSA-6805567", 
            "database": "Reactome"
        }, 
        {
            "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:337963", 
            "id": "hsa:337963", 
            "database": "KEGG Pathway"
        }, 
        {
            "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186980", 
            "id": "ENSG00000186980", 
            "database": "Bgee"
        }, 
        {
            "url": "https://omabrowser.org/oma/group/CGGYLCY/", 
            "id": "CGGYLCY", 
            "database": "OMA"
        }, 
        {
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR007951", 
            "id": "IPR007951", 
            "database": "InterPro"
        }, 
        {
            "url": "http://pfam.xfam.org/family/PF05287", 
            "id": "PF05287", 
            "database": "Pfam"
        }, 
        {
            "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19051", 
            "id": "PTHR19051", 
            "database": "PANTHER"
        }, 
        {
            "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A1A580", 
            "id": "PR_A1A580", 
            "database": "PRO"
        }, 
        {
            "url": "https://www.ebi.ac.uk/intact/interactors/id:A1A580*", 
            "id": "A1A580", 
            "database": "IntAct"
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/gene/337963", 
            "id": "337963", 
            "database": "GeneID"
        }
    ], 
    "expression_disease": [], 
    "uniprot_ac": "A1A580", 
    "disease": [], 
    "mass": {
        "monoisotopic_mass": 6892.0, 
        "chemical_mass": 6892.0
    }, 
    "expression_tissue": [
        {
            "tissue": {
                "url": "http://purl.obolibrary.org/obo/UBERON_0009853", 
                "uberon": "0009853", 
                "name": "Body of uterus"
            }, 
            "present": "no", 
            "evidence": [
                {
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186980", 
                    "id": "ENSG00000186980", 
                    "database": "Bgee"
                }
            ]
        }, 
        {
            "tissue": {
                "url": "http://purl.obolibrary.org/obo/UBERON_0000458", 
                "uberon": "0000458", 
                "name": "Endocervix"
            }, 
            "present": "no", 
            "evidence": [
                {
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186980", 
                    "id": "ENSG00000186980", 
                    "database": "Bgee"
                }
            ]
        }, 
        {
            "tissue": {
                "url": "http://purl.obolibrary.org/obo/UBERON_0000948", 
                "uberon": "0000948", 
                "name": "Heart"
            }, 
            "present": "no", 
            "evidence": [
                {
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186980", 
                    "id": "ENSG00000186980", 
                    "database": "Bgee"
                }
            ]
        }, 
        {
            "tissue": {
                "url": "http://purl.obolibrary.org/obo/UBERON_0000473", 
                "uberon": "0000473", 
                "name": "Testis"
            }, 
            "present": "no", 
            "evidence": [
                {
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186980", 
                    "id": "ENSG00000186980", 
                    "database": "Bgee"
                }
            ]
        }, 
        {
            "tissue": {
                "url": "http://purl.obolibrary.org/obo/UBERON_0002369", 
                "uberon": "0002369", 
                "name": "Adrenal gland"
            }, 
            "present": "no", 
            "evidence": [
                {
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186980", 
                    "id": "ENSG00000186980", 
                    "database": "Bgee"
                }
            ]
        }, 
        {
            "tissue": {
                "url": "http://purl.obolibrary.org/obo/UBERON_0000992", 
                "uberon": "0000992", 
                "name": "Ovary"
            }, 
            "present": "no", 
            "evidence": [
                {
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186980", 
                    "id": "ENSG00000186980", 
                    "database": "Bgee"
                }
            ]
        }, 
        {
            "tissue": {
                "url": "http://purl.obolibrary.org/obo/UBERON_0000996", 
                "uberon": "0000996", 
                "name": "Vagina"
            }, 
            "present": "no", 
            "evidence": [
                {
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186980", 
                    "id": "ENSG00000186980", 
                    "database": "Bgee"
                }
            ]
        }, 
        {
            "tissue": {
                "url": "http://purl.obolibrary.org/obo/UBERON_0001155", 
                "uberon": "0001155", 
                "name": "Colon"
            }, 
            "present": "no", 
            "evidence": [
                {
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186980", 
                    "id": "ENSG00000186980", 
                    "database": "Bgee"
                }
            ]
        }, 
        {
            "tissue": {
                "url": "http://purl.obolibrary.org/obo/UBERON_0001987", 
                "uberon": "0001987", 
                "name": "Placenta"
            }, 
            "present": "no", 
            "evidence": [
                {
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186980", 
                    "id": "ENSG00000186980", 
                    "database": "Bgee"
                }
            ]
        }, 
        {
            "tissue": {
                "url": "http://purl.obolibrary.org/obo/UBERON_0000955", 
                "uberon": "0000955", 
                "name": "Brain"
            }, 
            "present": "no", 
            "evidence": [
                {
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186980", 
                    "id": "ENSG00000186980", 
                    "database": "Bgee"
                }
            ]
        }, 
        {
            "tissue": {
                "url": "http://purl.obolibrary.org/obo/UBERON_0001160", 
                "uberon": "0001160", 
                "name": "Fundus of stomach"
            }, 
            "present": "no", 
            "evidence": [
                {
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186980", 
                    "id": "ENSG00000186980", 
                    "database": "Bgee"
                }
            ]
        }, 
        {
            "tissue": {
                "url": "http://purl.obolibrary.org/obo/UBERON_0001150", 
                "uberon": "0001150", 
                "name": "Body of pancreas"
            }, 
            "present": "no", 
            "evidence": [
                {
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186980", 
                    "id": "ENSG00000186980", 
                    "database": "Bgee"
                }
            ]
        }, 
        {
            "tissue": {
                "url": "http://purl.obolibrary.org/obo/UBERON_0002048", 
                "uberon": "0002048", 
                "name": "Lung"
            }, 
            "present": "no", 
            "evidence": [
                {
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186980", 
                    "id": "ENSG00000186980", 
                    "database": "Bgee"
                }
            ]
        }, 
        {
            "tissue": {
                "url": "http://purl.obolibrary.org/obo/UBERON_0000007", 
                "uberon": "0000007", 
                "name": "Pituitary gland"
            }, 
            "present": "no", 
            "evidence": [
                {
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186980", 
                    "id": "ENSG00000186980", 
                    "database": "Bgee"
                }
            ]
        }, 
        {
            "tissue": {
                "url": "http://purl.obolibrary.org/obo/UBERON_0002107", 
                "uberon": "0002107", 
                "name": "Liver"
            }, 
            "present": "no", 
            "evidence": [
                {
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186980", 
                    "id": "ENSG00000186980", 
                    "database": "Bgee"
                }
            ]
        }, 
        {
            "tissue": {
                "url": "http://purl.obolibrary.org/obo/UBERON_0002046", 
                "uberon": "0002046", 
                "name": "Thyroid gland"
            }, 
            "present": "no", 
            "evidence": [
                {
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186980", 
                    "id": "ENSG00000186980", 
                    "database": "Bgee"
                }
            ]
        }, 
        {
            "tissue": {
                "url": "http://purl.obolibrary.org/obo/UBERON_0000178", 
                "uberon": "0000178", 
                "name": "Blood"
            }, 
            "present": "no", 
            "evidence": [
                {
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186980", 
                    "id": "ENSG00000186980", 
                    "database": "Bgee"
                }
            ]
        }, 
        {
            "tissue": {
                "url": "http://purl.obolibrary.org/obo/UBERON_0001043", 
                "uberon": "0001043", 
                "name": "Esophagus"
            }, 
            "present": "no", 
            "evidence": [
                {
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186980", 
                    "id": "ENSG00000186980", 
                    "database": "Bgee"
                }
            ]
        }, 
        {
            "tissue": {
                "url": "http://purl.obolibrary.org/obo/UBERON_0002367", 
                "uberon": "0002367", 
                "name": "Prostate gland"
            }, 
            "present": "no", 
            "evidence": [
                {
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186980", 
                    "id": "ENSG00000186980", 
                    "database": "Bgee"
                }
            ]
        }, 
        {
            "tissue": {
                "url": "http://purl.obolibrary.org/obo/UBERON_0001161", 
                "uberon": "0001161", 
                "name": "Body of stomach"
            }, 
            "present": "no", 
            "evidence": [
                {
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186980", 
                    "id": "ENSG00000186980", 
                    "database": "Bgee"
                }
            ]
        }, 
        {
            "tissue": {
                "url": "http://purl.obolibrary.org/obo/UBERON_0001255", 
                "uberon": "0001255", 
                "name": "Urinary bladder"
            }, 
            "present": "no", 
            "evidence": [
                {
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186980", 
                    "id": "ENSG00000186980", 
                    "database": "Bgee"
                }
            ]
        }
    ], 
    "gene": [
        {
            "url": "https://www.uniprot.org/uniprot/A1A580", 
            "name": "KRTAP23-1; KAP23.1.", 
            "locus": {
                "end_pos": 30348399, 
                "start_pos": 30348609, 
                "chromosome": "21", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENSG00000186980", 
                        "id": "ENSG00000186980", 
                        "database": "Ensembl Gene"
                    }
                ]
            }
        }
    ]
}