{ "uniprot_canonical_ac": "P16930-1", "uniprot_ac": "P16930", "uniprot_id": "FAAA_HUMAN", "mass": { "chemical_mass": 46374.0, "monoisotopic_mass": 46374.0 }, "refseq": { "ac": "NP_000128", "name": "fumarylacetoacetase", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000128" }, "gene_names": [ { "name": "FAH", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P16930", "id": "P16930" }, { "name": "FAH", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000128", "id": "NP_000128" } ], "protein_names": [ { "name": "Fumarylacetoacetase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P16930" }, { "name": "3.7.1.2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P16930" }, { "name": "Beta-diketonase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P16930" }, { "name": "FAA; beta-diketonase; fumarylacetoacetate hydrolase (fumarylacetoacetase); epididymis secretory sperm binding protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000128", "id": "NP_000128" }, { "name": "FAA", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P16930" }, { "name": "Fumarylacetoacetate hydrolase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P16930" }, { "name": "fumarylacetoacetase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000128", "id": "NP_000128" } ], "function": [ { "annotation": "E3 Ubiquitin Ligase APC/C(Cdh1) Negatively Regulates FAH Protein Stability by Promoting Its Polyubiquitination. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000128" }, { "database": "PubMed", "id": "33218190", "url": "https://glygen.org/publication/PubMed/33218190" } ] }, { "annotation": "Fumarylacetoacetate hydrolase gene as a knockout target for hepatic chimerism and donor liver production. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000128" }, { "database": "PubMed", "id": "34678209", "url": "https://glygen.org/publication/PubMed/34678209" } ] }, { "annotation": "Survival-Assured Liver Injury Preconditioning (SALIC) Enables Robust Expansion of Human Hepatocytes in Fah(-/-) Rag2(-/-) IL2rg(-/-) Rats.", "evidence": [ { "database": "RefSeq", "id": "NP_000128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000128" }, { "database": "PubMed", "id": "34382351", "url": "https://glygen.org/publication/PubMed/34382351" } ] }, { "annotation": "The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1).", "evidence": [ { "database": "RefSeq", "id": "NP_000128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000128" }, { "database": "PubMed", "id": "36369907", "url": "https://glygen.org/publication/PubMed/36369907" } ] }, { "annotation": "Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000128" }, { "database": "PubMed", "id": "33670179", "url": "https://glygen.org/publication/PubMed/33670179" } ] } ], "disease": [ { "disease_id": "DOID:0050726", "recommended_name": { "id": "DOID:0050726", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050726", "name": "tyrosinemia type I", "description": "A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body." }, "synonyms": [ { "id": "DOID:0050726", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050726", "name": "hepatorenal tyrosinemia", "description": "" }, { "id": "MONDO:0010161", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0010161", "name": "hepatorenal tyrosinemia", "description": "" }, { "id": "MONDO:0010161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010161", "name": "type I tyrosinemia", "description": "" }, { "id": "MONDO:0010161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010161", "name": "tyrosinemia type I", "description": "" }, { "id": "MONDO:0010161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010161", "name": "Fah deficiency", "description": "" }, { "id": "MONDO:0010161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010161", "name": "TYRSN1", "description": "" }, { "id": "MONDO:0010161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010161", "name": "tyrosinemia type 1", "description": "" }, { "id": "MONDO:0010161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010161", 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"evidence": [ { "database": "Bgee", "id": "ENSG00000103876", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103876" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "80.09", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000103876", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103876" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "77.91", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000103876", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103876" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "94.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000103876", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103876" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "86.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000103876", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103876" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "75.9", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000103876", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103876" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "82.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000103876", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103876" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "86.5", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000103876", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103876" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "67.64", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000103876", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103876" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "97.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000103876", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103876" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "90.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000103876", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103876" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "93.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000103876", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103876" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P16930", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P16930" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": 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}, { "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": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P16930", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P16930" } ], "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", 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"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", 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "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", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P16930", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P16930" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P16930", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P16930" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P16930" } ], "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": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"id": "P16930-2", "url": "https://www.uniprot.org/uniprot/P16930-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSFIPVAEDSDFPIHNLPYGVFSTRGDPRPRIGVAIGDQILDLSIIKHLFTGPVLSKHQDVFNQPTLNSFMGLGQAAWKEARVFLQNLLSVSQARLRDDTELRKCAFISQASATMHLPATIGDYTDFYSSRQHATNVGIMFRDKENALMPNWLHLPVGYHGRASSVVVSGTPIRRPMGQMKPDDSKPPVYGACKLLDMELEMAFFVGPGNRLGEPIPISKAHEHIFGMVLMNDWSARDIQKWEYVPLGPFLGKSFGTTVSPWVVPMDALMPFAVPNPKQDPRPLPYLCHDEPYTFDINLSVNLKGEGMSQAATICKSNFKYMYWTMLQQLTHHSVNGCNLRPGDLLASGTISGPEPENFGSMLELSWKGTKPIDLGNGQTRKFLLDGDEVIITGYCQGDGYRIGFGQCAGKVLPALLPS", "length": 419, "header": "sp|P16930-1|FAAA_HUMAN Isoform 1 of Fumarylacetoacetase OS=Homo sapiens OX=9606 GN=FAH PE=1 SV=2 CANONICAL=P16930-1" }, "isoforms": [ { "isoform_ac": "A0A804HJ13-1", "url": "", "sequence": { "sequence": "MSFIPVAEDSDFPIHNLPYGVFSTRGDPRPRIGVAIGDQILDLSIIKHLFTGPVLSKHQDVFNQPTLNSFMGLGQAAWKEARVFLQNLLSVSQARLRDDTELRKCAFISQASATMHLPATIAAYLSQELPSSS", "length": 133, "header": "tr|A0A804HJ13-1|FAAA_HUMAN Computationally mapped isoform of Fumarylacetoacetase OS=Homo sapiens OX=9606 GN=FAH PE=1 SV=1 CANONICAL=P16930-1" }, "locus": { "chromosome": "15", "start_pos": 80162426, "end_pos": 80153055, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000684363.1", "url": "https://www.ensembl.org/id/ENST00000684363.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000507314.1", "url": "https://www.ensembl.org/id/ENSP00000507314.1" } ] } }, { "isoform_ac": "A0A804HJX2-1", "url": "", "sequence": { "sequence": "MSFIPVAEDSDFPIHNLPYGVFSTRGDPRPRIGVAIGDQILDLSIIKHLFTGPVLSKHQDVFNQPTLNSFMGLGQAAWKEARVFLQNLLSVSQARLRDDTELRKCAFISQASATMHLPATIGDYTDFYSSRQHATNVGIMFRDKENALMPNWYELGQMSA", "length": 160, "header": "tr|A0A804HJX2-1|FAAA_HUMAN Computationally mapped isoform of Fumarylacetoacetase OS=Homo sapiens OX=9606 GN=FAH PE=1 SV=1 CANONICAL=P16930-1" }, "locus": { "chromosome": "15", "start_pos": 80162361, "end_pos": 80153055, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000558767.6", "url": "https://www.ensembl.org/id/ENST00000558767.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000507680.1", "url": "https://www.ensembl.org/id/ENSP00000507680.1" } ] } }, { "isoform_ac": "B7Z4W2-1", "url": "", "sequence": { "sequence": "MSFIPVAEDSDFPIHNLPYGVFSTRGDPRPRIGVAIGDQILDLSIIKHLFTGPVLSKHQDVFNQPTLNSFMGLGQAAWKEARVFLQNLLSVSQARLRDDTELRKCAFISQASATMHLPATIGECSLFTKIRTEQLRGPRGLARRLHRLLFLSAACYQRRNHVQGQGECVDAKLV", "length": 174, "header": "tr|B7Z4W2-1|FAAA_HUMAN Computationally mapped isoform of Fumarylacetoacetase OS=Homo sapiens OX=9606 GN=FAH PE=1 SV=1 CANONICAL=P16930-1" }, "locus": { "chromosome": "15", "start_pos": 80162339, "end_pos": 80153055, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000537726.5", "url": "https://www.ensembl.org/id/ENST00000537726.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000507608.1", "url": "https://www.ensembl.org/id/ENSP00000507608.1" } ] } }, { "isoform_ac": "H0YLC7-1", "url": "", "sequence": { "sequence": "MSFIPVAEDSDFPIHNLPYGVFSTRGDPRPRIGVAIGDQILDLSIIKHLFTGPVLSKHQDVFNQPTLNSFMGLGQAAWKEARVFLQNLLSVSQARLRDDTELRKCAFISQASATMHLPATIGDYTDFYSSRQHATNVGIMFRDKENALMPNWLHLPVGYHG", "length": 161, "header": "tr|H0YLC7-1|H0YLC7_HUMAN Computationally mapped isoform of Fumarylacetoacetase OS=Homo sapiens OX=9606 GN=FAH PE=1 SV=1 CANONICAL=P16930-1" }, "locus": { "chromosome": "15", "start_pos": 80168079, "end_pos": 80153055, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000558022.5", "url": "https://www.ensembl.org/id/ENST00000558022.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000453152.1", "url": "https://www.ensembl.org/id/ENSP00000453152.1" } ] } }, { "isoform_ac": "H3BNP8-1", "url": "", "sequence": { "sequence": "XNLKGEGMSQAATICKSNFKYMYWTMLQQLTHHSVNGCNLRPGDLLASGTISGPVSIWLH", "length": 60, "header": "tr|H3BNP8-1|H3BNP8_HUMAN Computationally mapped isoform of Fumarylacetoacetase OS=Homo sapiens OX=9606 GN=FAH PE=1 SV=1 CANONICAL=P16930-1" }, "locus": { "chromosome": "15", "start_pos": 80180245, "end_pos": 80175081, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000561353.2", "url": "https://www.ensembl.org/id/ENST00000561353.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000454952.1", "url": "https://www.ensembl.org/id/ENSP00000454952.1" } ] } }, { "isoform_ac": "P16930-1", "url": "", "sequence": { "sequence": "MSFIPVAEDSDFPIHNLPYGVFSTRGDPRPRIGVAIGDQILDLSIIKHLFTGPVLSKHQDVFNQPTLNSFMGLGQAAWKEARVFLQNLLSVSQARLRDDTELRKCAFISQASATMHLPATIGDYTDFYSSRQHATNVGIMFRDKENALMPNWLHLPVGYHGRASSVVVSGTPIRRPMGQMKPDDSKPPVYGACKLLDMELEMAFFVGPGNRLGEPIPISKAHEHIFGMVLMNDWSARDIQKWEYVPLGPFLGKSFGTTVSPWVVPMDALMPFAVPNPKQDPRPLPYLCHDEPYTFDINLSVNLKGEGMSQAATICKSNFKYMYWTMLQQLTHHSVNGCNLRPGDLLASGTISGPEPENFGSMLELSWKGTKPIDLGNGQTRKFLLDGDEVIITGYCQGDGYRIGFGQCAGKVLPALLPS", "length": 419, "header": "sp|P16930-1|FAAA_HUMAN Isoform 1 of Fumarylacetoacetase OS=Homo sapiens OX=9606 GN=FAH PE=1 SV=2 CANONICAL=P16930-1" }, "locus": { "chromosome": "15", "start_pos": 80186206, "end_pos": 80153055, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000261755.9", "url": "https://www.ensembl.org/id/ENST00000261755.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000261755.5", "url": "https://www.ensembl.org/id/ENSP00000261755.5" } ] } }, { "isoform_ac": "P16930-2", "url": "", "sequence": { "sequence": "MGLGQAAWKEARVFLQNLLSVSQARLRDDTELRKCAFISQASATMHLPATIGDYTDFYSSRQHATNVGIMFRDKENALMPNWLHLPVGYHGRASSVVVSGTPIRRPMGQMKPDDSKPPVYGACKLLDMELEMAFFVGPGNRLGEPIPISKAHEHIFGMVLMNDWSARDIQKWEYVPLGPFLGKSFGTTVSPWVVPMDALMPFAVPNPKQDPRPLPYLCHDEPYTFDINLSVNLKGEGMSQAATICKSNFKYMYWTMLQQLTHHSVNGCNLRPGDLLASGTISGPEPENFGSMLELSWKGTKPIDLGNGQTRKFLLDGDEVIITGYCQGDGYRIGFGQCAGKVLPALLPS", "length": 349, "header": "sp|P16930-2|FAAA_HUMAN Isoform 2 of Fumarylacetoacetase OS=Homo sapiens OX=9606 GN=FAH PE=1 SV=2 CANONICAL=P16930-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P16930", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P16930" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" } ] } ], "phosphorylation": [ { "start_pos": 309, "end_pos": 309, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P16930", "url": "https://www.uniprot.org/uniprot/P16930" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P16930", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P16930" } ], "site_lbl": "Ser309" }, { "start_pos": 395, "end_pos": 395, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "P16930", "url": "https://www.uniprot.org/uniprot/P16930" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P16930", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P16930" } ], "site_lbl": "Tyr395" }, { "start_pos": 92, "end_pos": 92, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P16930", "url": "https://www.uniprot.org/uniprot/P16930" } ], "site_lbl": "Ser92" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Crystal structure of human homogentisate dioxygenase.", "journal": "Nature structural biology", "date": "2000", "authors": "Titus GP, Mueller HA, Burgner J, Rodriguez De Cordoba S, Penalva MA, Timm DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963684" } ], "reference": [ { "type": "PubMed", "id": "10876237", "url": "https://glygen.org/publication/PubMed/10876237" } ] }, { "title": "Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III.", "journal": "Human genetics", "date": "2000", "authors": "Ruetschi U, Cerone R, Perez-Cerda C, Schiaffino MC, Standing S, Ugarte M, Holme E", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963684" } ], "reference": [ { "type": "PubMed", "id": "10942115", "url": "https://glygen.org/publication/PubMed/10942115" } ] }, { "title": "Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.", "journal": "J. Inherit. Metab. Dis.", "date": "2000", "authors": "Kim SZ, Kupke KG, Ierardi-Curto L, Holme E, Greter J, Tanguay RM, Poudrier J, D'Astous M, Lettre F, Hahn SH, Levy HL", "evidence": [ { "database": "UniProtKB", "id": "P16930", "url": "https://www.uniprot.org/uniprot/P16930" } ], "reference": [ { "type": "PubMed", "id": "11196105", "url": "https://glygen.org/publication/PubMed/11196105" } ] }, { "title": "Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.", "journal": "J. Biol. Chem.", "date": "2001", "authors": "Bergeron A, D'Astous M, Timm DE, Tanguay RM", "evidence": [ { "database": "UniProtKB", "id": "P16930", "url": "https://www.uniprot.org/uniprot/P16930" } ], "reference": [ { "type": "PubMed", "id": "11278491", "url": "https://glygen.org/publication/PubMed/11278491" } ] }, { "title": "Crystal structure of maleylacetoacetate isomerase/glutathione transferase zeta reveals the molecular basis for its remarkable catalytic promiscuity.", "journal": "Biochemistry", "date": "2001", "authors": "Polekhina G, Board PG, Blackburn AC, Parker MW", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963684" } ], "reference": [ { "type": "PubMed", "id": "11327815", "url": "https://glygen.org/publication/PubMed/11327815" } ] }, { "title": "A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.", "journal": "BMC Genet.", "date": "2001", "authors": "Dreumont N, Poudrier JA, Bergeron A, Levy HL, Baklouti F, Tanguay RM", "evidence": [ { "database": "UniProtKB", "id": "P16930", "url": "https://www.uniprot.org/uniprot/P16930" } ], "reference": [ { "type": "PubMed", "id": "11476670", "url": "https://glygen.org/publication/PubMed/11476670" } ] }, { "title": "Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.", "journal": "J. Clin. Invest.", "date": "1992", "authors": "Phaneuf D, Lambert M, Laframboise R, Mitchell G, Lettre F, Tanguay RM", "evidence": [ { "database": "UniProtKB", "id": "P16930", "url": "https://www.uniprot.org/uniprot/P16930" } ], "reference": [ { "type": "PubMed", "id": "1401056", "url": "https://glygen.org/publication/PubMed/1401056" } ] }, { "title": "Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15.", "journal": "Am. J. Hum. Genet.", "date": "1991", "authors": "Phaneuf D, Labelle Y, Berube D, Arden K, Cavenee W, Gagne R, Tanguay RM", "evidence": [ { "database": "UniProtKB", "id": "P16930", "url": "https://www.uniprot.org/uniprot/P16930" } ], "reference": [ { "type": "PubMed", "id": "1998338", "url": "https://glygen.org/publication/PubMed/1998338" } ] }, { "title": "A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.", "journal": "Orphanet J. Rare Dis.", "date": "2009", "authors": "Cassiman D, Zeevaert R, Holme E, Kvittingen EA, Jaeken J", "evidence": [ { "database": "UniProtKB", "id": "P16930", "url": "https://www.uniprot.org/uniprot/P16930" } ], "reference": [ { "type": "PubMed", "id": "20003495", "url": "https://glygen.org/publication/PubMed/20003495" } ] }, { "title": "Nucleotide sequence of cDNA encoding human fumarylacetoacetase.", "journal": "Nucleic Acids Res.", "date": "1990", "authors": "Berger R., Pannekoek H., Taanman J.-W., Agsteribbe E., Evers R.F., Hartog M.V., Reversma T., Welling G.M., van Faassen H.", "evidence": [ { "database": "UniProtKB", "id": "P16930", "url": "https://www.uniprot.org/uniprot/P16930" } ], "reference": [ { "type": "PubMed", "id": "2336361", "url": "https://glygen.org/publication/PubMed/2336361" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P16930", "url": "https://www.uniprot.org/uniprot/P16930" }, { "database": "iPTMnet", "id": "P16930", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P16930" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Analysis of protein-coding genetic variation in 60,706 humans.", "journal": "Nature", "date": "2016", "authors": "Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG", "evidence": [ { "database": "UniProtKB", "id": "P16930", "url": "https://www.uniprot.org/uniprot/P16930" } ], "reference": [ { "type": "PubMed", "id": "27535533", "url": "https://glygen.org/publication/PubMed/27535533" } ] }, { "title": "E3 Ubiquitin Ligase APC/C(Cdh1) Negatively Regulates FAH Protein Stability by Promoting Its Polyubiquitination.", "journal": "International journal of molecular sciences", "date": "2020", "authors": "Kaushal K, Woo SH, Tyagi A, Kim DH, Suresh B, Kim KS, Ramakrishna S", "evidence": [ { "database": "RefSeq", "id": "NP_000128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000128" } ], "reference": [ { "type": "PubMed", "id": "33218190", "url": "https://glygen.org/publication/PubMed/33218190" } ] }, { "title": "Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I.", "journal": "International journal of molecular sciences", "date": "2021", "authors": "Gil-Martinez J, Macias I, Unione L, Bernardo-Seisdedos G, Lopitz-Otsoa F, Fernandez-Ramos D, Lain A, Sanz-Parra A, Mato JM, Millet O", "evidence": [ { "database": "RefSeq", "id": "NP_000128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000128" } ], "reference": [ { "type": "PubMed", "id": "33670179", "url": "https://glygen.org/publication/PubMed/33670179" } ] }, { "title": "Survival-Assured Liver Injury Preconditioning (SALIC) Enables Robust Expansion of Human Hepatocytes in Fah(-/-) Rag2(-/-) IL2rg(-/-) Rats.", "journal": "Advanced science (Weinheim, Baden-Wurttemberg, Germany)", "date": "2021", "authors": "Zhang L, Ge JY, Zheng YW, Sun Z, Wang C, Peng Z, Wu B, Fang M, Furuya K, Ma X, Shao Y, Ohkohchi N, Oda T, Fan J, Pan G, Li D, Hui L", "evidence": [ { "database": "RefSeq", "id": "NP_000128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000128" } ], "reference": [ { "type": "PubMed", "id": "34382351", "url": "https://glygen.org/publication/PubMed/34382351" } ] }, { "title": "Fumarylacetoacetate hydrolase gene as a knockout target for hepatic chimerism and donor liver production.", "journal": "Stem cell reports", "date": "2021", "authors": "Larson EL, Joo DJ, Nelson ED, Amiot BP, Aravalli RN, Nyberg SL", "evidence": [ { "database": "RefSeq", "id": "NP_000128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000128" } ], "reference": [ { "type": "PubMed", "id": "34678209", "url": "https://glygen.org/publication/PubMed/34678209" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P16930", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P16930" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1).", "journal": "Molecular genetics & genomic medicine", "date": "2022-11-12", "authors": "Chi Huan, Gan Chun, Jiang Yaru, Chen Dan, Qiu Jiawen, Yang Qing, Chen Yaxi, Wang Mo, Yang Haiping, Jiang Wei, Li Qiu", "evidence": [ { "database": "RefSeq", "id": "NP_000128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000128" } ], "reference": [ { "type": "PubMed", "id": "36369907", "url": "https://glygen.org/publication/PubMed/36369907" } ] }, { "title": "The mechanism of enzymic formation of homogentisate from p-hydroxyphenylpyruvate.", "journal": "Journal of the American Chemical Society", "date": "1970", "authors": "Lindblad B, Lindstedt G, Lindstedt S", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963684", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963684" } ], "reference": [ { "type": "PubMed", "id": "5487549", "url": "https://glygen.org/publication/PubMed/5487549" } ] }, { "title": "Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.", "journal": "Hum. 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