{ "uniprot_canonical_ac": "O95954-1", "uniprot_ac": "O95954", "uniprot_id": "FTCD_HUMAN", "mass": { "chemical_mass": 58927.0, "monoisotopic_mass": 58927.0 }, "refseq": { "ac": "NP_001307341", "name": "formimidoyltransferase-cyclodeaminase isoform C", "summary": "The protein encoded by this gene is a bifunctional enzyme that channels 1-carbon units from formiminoglutamate, a metabolite of the histidine degradation pathway, to the folate pool. Mutations in this gene are associated with glutamate formiminotransferase deficiency. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Dec 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307341" }, "gene_names": [ { "name": "FTCD", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95954", "id": "O95954" }, { "name": "FTCD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307341", "id": "NP_001307341" }, { "name": "LCHC1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307341", "id": "NP_001307341" } ], "protein_names": [ { "name": "Formimidoyltransferase-cyclodeaminase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95954" }, { "name": "FTCD", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95954" }, { "name": "Formiminotetrahydrofolate cyclodeaminase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95954" }, { "name": "Formiminotransferase-cyclodeaminase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95954" }, { "name": "Glutamate formiminotransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95954" }, { "name": "Glutamate formyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95954" }, { "name": "LCHC1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95954" }, { "name": "formimidoyltransferase-cyclodeaminase isoform C", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307341", "id": "NP_001307341" }, { "name": "formiminotransferase-cyclodeaminase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307341", "id": "NP_001307341" } ], "function": [ { "annotation": "Binds and promotes bundling of vimentin filaments originating from the Golgi.", "evidence": [ { "database": "UniProtKB", "id": "B7WPK3", "url": "https://www.uniprot.org/uniprot/B7WPK3#function" }, { "database": "UniProtKB", "id": "ARBA00002680", "url": "https://www.uniprot.org/uniprot/ARBA00002680#function" }, { "database": "UniProtKB", "id": "A0A0G2JQF2", "url": "https://www.uniprot.org/uniprot/A0A0G2JQF2#function" }, { "database": "UniProtKB", "id": "O95954", "url": "https://www.uniprot.org/uniprot/O95954#function" }, { "database": "UniProtKB", "id": "O88618", "url": "https://www.uniprot.org/uniprot/O88618#function" } ] }, { "annotation": "Disease-causing mutations have been identified in the FTCD gene in three patients with the putative autosomal recessive disorder glutamate formiminotransferase deficiency. Erratum:[Hum Mutat. 2003 Nov;22(5):416]", "evidence": [ { "database": "RefSeq", "id": "NP_001307341", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307341" }, { "database": "PubMed", "id": "12815595", "url": "https://glygen.org/publication/PubMed/12815595" } ] }, { "annotation": "Folate-dependent enzyme, that displays both transferase and deaminase activity. Serves to channel one-carbon units from formiminoglutamate to the folate pool.", "evidence": [ { "database": "UniProtKB", "id": "B7WPK3", "url": "https://www.uniprot.org/uniprot/B7WPK3#function" }, { "database": "UniProtKB", "id": "ARBA00025506", "url": "https://www.uniprot.org/uniprot/ARBA00025506#function" }, { "database": "UniProtKB", "id": "A0A0G2JQF2", "url": "https://www.uniprot.org/uniprot/A0A0G2JQF2#function" }, { "database": "UniProtKB", "id": "O95954", "url": "https://www.uniprot.org/uniprot/O95954#function" }, { "database": "PubMed", "id": "12815595", "url": "https://glygen.org/publication/PubMed/12815595" } ] }, { "annotation": "P97 and p47 function in membrane tethering in cooperation with FTCD during mitotic Golgi reassembly.", "evidence": [ { "database": "RefSeq", "id": "NP_001307341", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307341" }, { "database": "PubMed", "id": "33555040", "url": "https://glygen.org/publication/PubMed/33555040" } ] }, { "annotation": "The Diagnostic Value of Arginase-1, FTCD, and MOC-31 Expression in Early Detection of Hepatocellular Carcinoma (HCC) and in Differentiation Between HCC and Metastatic Adenocarcinoma to the Liver.", "evidence": [ { "database": "RefSeq", "id": "NP_001307341", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307341" }, { "database": "PubMed", "id": "30784016", "url": "https://glygen.org/publication/PubMed/30784016" } ] }, { "annotation": "The minor allele (A) of rs61735836 (p.Val101Met) in exon 3 of FTCD was associated with increased urinary Inorganic arsenics % (P = 8x10-13), increased mono-methylated arsenic % (P = 2x10-16) and decreased di-methylated arsenic % (P = 6x10-23). Erratum:[PLoS Genet. 2019 May 20;15(5):e1008172. PMID: 31107898] Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001307341", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307341" }, { "database": "PubMed", "id": "30893314", "url": "https://glygen.org/publication/PubMed/30893314" } ] }, { "annotation": "The protein encoded by this gene is a bifunctional enzyme that channels 1-carbon units from formiminoglutamate, a metabolite of the histidine degradation pathway, to the folate pool. Mutations in this gene are associated with glutamate formiminotransferase deficiency. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Dec 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001307341", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307341" } ] }, { "annotation": "The rs914246 variant, but not the rs914245 variant, of the FTCD gene modulated accuracy in the task for younger, but not older, people under high working memory", "evidence": [ { "database": "RefSeq", "id": "NP_001307341", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307341" }, { "database": "PubMed", "id": "29927301", "url": "https://glygen.org/publication/PubMed/29927301" } ] } ], "disease": [ { "disease_id": "DOID:0111679", "recommended_name": { "id": "DOID:0111679", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111679", "name": "glutamate formiminotransferase deficiency", "description": "A vitamin metabolic disorder characterized by elevated formiminoglutamate in urine and plasma and variable intellectual, developmental, and hematological phenotypes that has_material_basis_in homozygous or compound heterozygous mutation in the FTCD gene on chromosome 21q22.3." }, "synonyms": [ { "id": "DOID:0111679", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111679", "name": "Arakawa syndrome 1", "description": "" }, { "id": "DOID:0111679", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111679", "name": "FIGLUria", "description": "" }, { "id": "DOID:0111679", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111679", "name": "FTCD deficiency", "description": "" }, { "id": "DOID:0111679", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111679", "name": "formiminoglutamic acidemia", "description": "" }, { "id": "DOID:0111679", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111679", "name": "formiminoglutamic aciduria", "description": "" }, { "id": "DOID:0111679", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111679", "name": "formiminotransferase cyclodeaminase deficiency", "description": "" }, { "id": "DOID:0111679", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111679", "name": "formiminotransferase deficiency syndrome", "description": "" }, { "id": "MONDO:0009240", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009240", "name": "formiminoglutamic aciduria", "description": "Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia." }, { "id": "MONDO:0009240", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009240", "name": "FTCD deficiency", "description": "" }, { "id": "MONDO:0009240", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009240", "name": "formiminoglutamic aciduria", "description": "" }, { "id": "MONDO:0009240", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009240", "name": "formiminotransferase cyclodeaminase deficiency", "description": "" }, { "id": "MONDO:0009240", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009240", "name": "glutamate formiminotransferase deficiency", "description": "" }, { "id": "MONDO:0009240", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009240", "name": "Arakawa syndrome 1", "description": "" }, { "id": "MONDO:0009240", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009240", "name": "Figlu-Uria", "description": "" }, { "id": "MONDO:0009240", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009240", "name": "Formiminoglutamicaciduria (FIGLU-Uria)", "description": "" }, { "id": "MONDO:0009240", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009240", "name": "formiminoglutamic acidemia", "description": "" }, { "id": "MONDO:0009240", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009240", "name": "formiminotransferase deficiency", "description": "" }, { "id": "MONDO:0009240", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009240", "name": "formiminotransferase deficiency syndrome", "description": "" }, { "id": "MIM:229100", "resource": "MIM", "url": "https://www.omim.org/entry/229100", "name": "Glutamate formiminotransferase deficiency", "description": "Glutamate formiminotransferase deficiency" } ], "evidence": [ { "id": "229100", "database": "MIM", "url": "https://www.omim.org/entry/229100" } ] } ], "snv": [ { "evidence": [ { "id": "O95954", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95954" } ], "glycoeffect": [], "start_pos": 161, "end_pos": 161, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "21", "chr_pos": "46151713", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D161", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "91.01", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160282", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160282" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "64.35", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160282", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160282" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "48.86", "present": "LOW", "evidence": [ { "database": "Bgee", 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95954" } ], "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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"MSQLVECVPNFSEGKNQEVIDAISGAITQTPGCVLLDVDAGPSTNRTVYTFVGPPECVVEGALNAARVASRLIDMSRHQGEHPRMGALDVCPFIPVRGVSVDECVLCAQAFGQRLAEELDVPVYLYGEAARMDSRRTLPAIRAGEYEALPKKLQQADWAPDFGPSSFVPSWGATATGARKFLIAFNINLLGTKEQAHRIALNLREQGRGKDQPGRLKKVQGIGWYLDEKNLAQVSTNLLDFEVTALHTVYEETCREAQELSLPVVGSQLVGLVPLKALLDAAAFYCEKENLFILEEEQRIRLVVSRLGLDSLCPFSPKERIIEYLVPERGPERGLGSKSLRAFVGEVGARSAAPGGGSVAAAAAAMGAALGSMVGLMTYGRRQFQSLDTTMRRLIPPFREASAKLTTLVDADAEAFTAYLAHGGPTGGSEAGSLCAADAGGDGGLAVAGPAGTGPVWEPGLPVRPPGGGQSPGDGRVWRIFQRAHQPEGHHRRGI", "length": 495, "header": "tr|B7WPK3-1|FTCD_HUMAN Computationally mapped isoform of Formimidoyltransferase-cyclodeaminase OS=Homo sapiens OX=9606 GN=FTCD PE=1 SV=1 CANONICAL=O95954-1" }, "locus": { "chromosome": "21", "start_pos": 46155523, "end_pos": 46137249, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000397743.1", "url": "https://www.ensembl.org/id/ENST00000397743.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000380851.1", "url": "https://www.ensembl.org/id/ENSP00000380851.1" } ] } }, { "isoform_ac": "H7C315-1", "url": "", "sequence": { "sequence": "XLWPALQELARCGNLACRSDLQVAAKALEMGVFGAYFNVLINLRDITDEAFKDQPPAGSQDPGCTGAGLLGDPAGVTVREASPGSVAPPSPIPRGQSCDLGGDTACSCGARRVGGQAAGHRLGMEALAGTEGP", "length": 133, "header": "tr|H7C315-1|FTCD_HUMAN Computationally mapped isoform of Formimidoyltransferase-cyclodeaminase OS=Homo sapiens OX=9606 GN=FTCD PE=1 SV=1 CANONICAL=O95954-1" }, "locus": { "chromosome": "21", "start_pos": 46138572, "end_pos": 46136816, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000446405.5", "url": "https://www.ensembl.org/id/ENST00000446405.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000409015.1", "url": "https://www.ensembl.org/id/ENSP00000409015.1" } ] } }, { "isoform_ac": "O95954-1", "url": "", "sequence": { "sequence": "MSQLVECVPNFSEGKNQEVIDAISGAITQTPGCVLLDVDAGPSTNRTVYTFVGPPECVVEGALNAARVASRLIDMSRHQGEHPRMGALDVCPFIPVRGVSVDECVLCAQAFGQRLAEELDVPVYLYGEAARMDSRRTLPAIRAGEYEALPKKLQQADWAPDFGPSSFVPSWGATATGARKFLIAFNINLLGTKEQAHRIALNLREQGRGKDQPGRLKKVQGIGWYLDEKNLAQVSTNLLDFEVTALHTVYEETCREAQELSLPVVGSQLVGLVPLKALLDAAAFYCEKENLFILEEEQRIRLVVSRLGLDSLCPFSPKERIIEYLVPERGPERGLGSKSLRAFVGEVGARSAAPGGGSVAAAAAAMGAALGSMVGLMTYGRRQFQSLDTTMRRLIPPFREASAKLTTLVDADAEAFTAYLEAMRLPKNTPEEKDRRTAALQEGLRRAVSVPLTLAETVASLWPALQELARCGNLACRSDLQVAAKALEMGVFGAYFNVLINLRDITDEAFKDQIHHRVSSLLQEAKTQAALVLDCLETRQE", "length": 541, "header": "sp|O95954-1|FTCD_HUMAN Isoform 1 of Formimidoyltransferase-cyclodeaminase OS=Homo sapiens OX=9606 GN=FTCD PE=1 SV=2 CANONICAL=O95954-1" }, "locus": { "chromosome": "21", "start_pos": 46155523, "end_pos": 46136990, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000397746.8", "url": "https://www.ensembl.org/id/ENST00000397746.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000380854.3", "url": "https://www.ensembl.org/id/ENSP00000380854.3" } ] } }, { "isoform_ac": "O95954-2", "url": "", "sequence": { "sequence": "MSQLVECVPNFSEGKNQEVIDAISGAITQTPGCVLLDVDAGPSTNRTVYTFVGPPECVVEGALNAARVASRLIDMSRHQGEHPRMGALDVCPFIPVRGVSVDECVLCAQAFGQRLAEELDVPVYLYGEAARMDSRRTLPAIRAGEYEALPKKLQQADWAPDFGPSSFVPSWGATATGARKFLIAFNINLLGTKEQAHRIALNLREQGRGKDQPGRLKKVQGIGWYLDEKNLAQVSTNLLDFEVTALHTVYEETCREAQELSLPVVGSQLVGLVPLKALLDAAAFYCEKENLFILEEEQRIRLVVSRLGLDSLCPFSPKERIIEYLVPERGPERGLGSKSLRAFVGEVGARSAAPGGGSVAAAAAAMGAALGSMVGLMTYGRRQFQSLDTTMRRLIPPFREASAKLTTLVDADAEAFTAYLEAMRLPKNTPEEKDRRTAALQEGLRRAVSVPLTLAETVASLWPALQELARCGNLACRSDLQVAAKALEMGVFGAYFNVLINLRDITDEAFKDQPPAGSQDPGCTGAGLLGDPAGVTVREASPGSVAPPSPIPRGQSCDLETPGTAGPSTLEG", "length": 572, "header": "sp|O95954-2|FTCD_HUMAN Isoform 2 of Formimidoyltransferase-cyclodeaminase OS=Homo sapiens OX=9606 GN=FTCD PE=1 SV=2 CANONICAL=O95954-1" }, "locus": { "chromosome": "21", "start_pos": 46155523, "end_pos": 46136457, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000397748.5", "url": "https://www.ensembl.org/id/ENST00000397748.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000380856.1", "url": "https://www.ensembl.org/id/ENSP00000380856.1" } ] } }, { "isoform_ac": "O95954-3", "url": "", "sequence": { "sequence": "MSQLVECVPNFSEGKNQEVIDAISGAITQTPGCVLLDVDAGPSTNRTVYTFVGPPECVVEGALNAARVASRLIDMSRHQGEHPRMGALDVCPFIPVRGVSVDECVLCAQAFGQRLAEELDVPVYLYGEAARMDSRRTLPAIRAGEYEALPKKLQQADWAPDFGPSSFVPSWGATATGARKFLIAFNINLLGTKEQAHRIALNLREQGRGKDQPGRLKKVQGIGWYLDEKNLAQVSTNLLDFEVTALHTVYEETCREAQELSLPVVGSQLVGLVPLKALLDAAAFYCEKENLFILEEEQRIRLVVSRLGLDSLCPFSPKERIIEYLVPERGPERGLGSKSLRAFVGEVGARSAAPGGGSVAAAAAAMGAALGSMVGLMTYGRRQFQSLDTTMRRLIPPFREASAKLTTLVDADAEAFTAYLAHGGPTGGSEAGSLCAADAGGDGGLAVAGAAGTGPVWEPGLPVRPPGGGQSPGDGRVWRIFQRAHQPEGHHRRGI", "length": 495, "header": "sp|O95954-3|FTCD_HUMAN Isoform 3 of Formimidoyltransferase-cyclodeaminase OS=Homo sapiens OX=9606 GN=FTCD PE=1 SV=2 CANONICAL=O95954-1" }, "locus": {} }, { "isoform_ac": "O95954-4", "url": "", "sequence": { "sequence": "MSQLVECVPNFSEGKNQEVIDAISGAITQTPGCVLLDVDAGPSTNRTVYTFVGPPECVVEGALNAARVASRLIDMSRHQGEHPRMGALDVCPFIPVRGVSVDECVLCAQAFGQRLAEELDVPGLTAGLSCSLPVRRGSQDGQSPDPAGHPGRGVRGPP", "length": 158, "header": "sp|O95954-4|FTCD_HUMAN Isoform 4 of Formimidoyltransferase-cyclodeaminase OS=Homo sapiens OX=9606 GN=FTCD PE=1 SV=2 CANONICAL=O95954-1" }, "locus": {} }, { "isoform_ac": "Q49AR5-1", "url": "", "sequence": { "sequence": "MGVFGAYFNVLINLRDITDEAFKDQIHHRVSSLLQEAKTQAALVLDCLETRQE", "length": 53, "header": "tr|Q49AR5-1|Q49AR5_HUMAN Computationally mapped isoform of FTCD protein OS=Homo sapiens OX=9606 GN=FTCD PE=1 SV=1 CANONICAL=O95954-1" }, "locus": { "chromosome": "21", "start_pos": 46137313, "end_pos": 46136990, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000460011.6", "url": "https://www.ensembl.org/id/ENST00000460011.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000507070.1", "url": "https://www.ensembl.org/id/ENSP00000507070.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 316, "end_pos": 316, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95954", "url": "https://www.uniprot.org/uniprot/O95954" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O95954", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95954" } ], "site_lbl": "Ser316" }, { "start_pos": 386, "end_pos": 386, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95954", "url": "https://www.uniprot.org/uniprot/O95954" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O95954", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95954" } ], "site_lbl": "Ser386" }, { "start_pos": 520, "end_pos": 520, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95954", "url": "https://www.uniprot.org/uniprot/O95954" } ], "site_lbl": "Ser520" } ], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Formiminotransferase cyclodeaminase is an organ-specific autoantigen recognized by sera of patients with autoimmune hepatitis.", "journal": "Gastroenterology", "date": "1999", "authors": "Lapierre P, Hajoui O, Homberg J C, Alvarez F", "evidence": [ { "database": "UniProtKB", "id": "O95954", "url": "https://www.uniprot.org/uniprot/O95954" } ], "reference": [ { "type": "PubMed", "id": "10029623", "url": "https://glygen.org/publication/PubMed/10029623" } ] }, { "title": "Cloning and characterization of human FTCD on 21q22.3, a candidate gene for glutamate formiminotransferase deficiency.", "journal": "Cytogenet. Cell Genet.", "date": "2000", "authors": "Solans A, Estivill X, de la Luna S", "evidence": [ { "database": "UniProtKB", "id": "O95954", "url": "https://www.uniprot.org/uniprot/O95954" }, { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "10773664", "url": "https://glygen.org/publication/PubMed/10773664" } ] }, { "title": "Two polymorphic forms of human histamine methyltransferase: structural, thermal, and kinetic comparisons.", "journal": "Structure (London, England : 1993)", "date": "2001", "authors": "Horton JR, Sawada K, Nishibori M, Zhang X, Cheng X", "evidence": [ { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "11566133", "url": "https://glygen.org/publication/PubMed/11566133" } ] }, { "title": "The molecular basis of glutamate formiminotransferase deficiency.", "journal": "Human mutation", "date": "2003", "authors": "Hilton JF, Christensen KE, Watkins D, Raby BA, Renaud Y, de la Luna S, Estivill X, MacKenzie RE, Hudson TJ, Rosenblatt DS", "evidence": [ { "database": "UniProtKB", "id": "O95954", "url": "https://www.uniprot.org/uniprot/O95954" }, { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" }, { "database": "RefSeq", "id": "NP_001307341", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307341" } ], "reference": [ { "type": "PubMed", "id": "12815595", "url": "https://glygen.org/publication/PubMed/12815595" } ] }, { "title": "Functional analysis of alternatively spliced transcripts of the human histidine decarboxylase gene and its expression in human tissues and basophilic leukemia cells.", "journal": "European journal of biochemistry", "date": "1992", "authors": "Mamune-Sato R, Yamauchi K, Tanno Y, Ohkawara Y, Ohtsu H, Katayose D, Maeyama K, Watanabe T, Shibahara S, Takishima T", "evidence": [ { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "1425659", "url": "https://glygen.org/publication/PubMed/1425659" } ] }, { "title": "An unappreciated role for RNA surveillance.", "journal": "Genome Biol.", "date": "2004", "authors": "Hillman R Tyler, Green Richard E, Brenner Steven E", "evidence": [ { "database": "UniProtKB", "id": "O95954", "url": "https://www.uniprot.org/uniprot/O95954" } ], "reference": [ { "type": "PubMed", "id": "14759258", "url": "https://glygen.org/publication/PubMed/14759258" } ] }, { "title": "Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas.", "journal": "Oncogene", "date": "2004", "authors": "Yamada S, Ohira M, Horie H, Ando K, Takayasu H, Suzuki Y, Sugano S, Hirata T, Goto T, Matsunaga T, Hiyama E, Hayashi Y, Ando H, Suita S, Kaneko M, Sasaki F, Hashizume K, Ohnuma N, Nakagawara A", "evidence": [ { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "15221005", "url": "https://glygen.org/publication/PubMed/15221005" } ] }, { "title": "Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene.", "journal": "Human genetics", "date": "2005", "authors": "Kawai Y, Moriyama A, Asai K, Coleman-Campbell CM, Sumi S, Morishita H, Suchi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "15806399", "url": "https://glygen.org/publication/PubMed/15806399" } ] }, { "title": "Localization of Golgi 58K protein (formiminotransferase cyclodeaminase) to the centrosome.", "journal": "Histochem. Cell Biol.", "date": "2006", "authors": "Hagiwara Haruo, Tajika Yuki, Matsuzaki Toshiyuki, Suzuki Takeshi, Aoki Takeo, Takata Kuniaki", "evidence": [ { "database": "UniProtKB", "id": "O95954", "url": "https://www.uniprot.org/uniprot/O95954" } ], "reference": [ { "type": "PubMed", "id": "16534631", "url": "https://glygen.org/publication/PubMed/16534631" } ] }, { "title": "The histamine N-methyltransferase T105I polymorphism affects active site structure and dynamics.", "journal": "Biochemistry", "date": "2008", "authors": "Rutherford K, Parson WW, Daggett V", "evidence": [ { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "18154359", "url": "https://glygen.org/publication/PubMed/18154359" } ] }, { "title": "Mutations in the urocanase gene UROC1 are associated with urocanic aciduria.", "journal": "Journal of medical genetics", "date": "2009", "authors": "Espinos C, Pineda M, Martinez-Rubio D, Lupo V, Ormazabal A, Vilaseca MA, Spaapen LJ, Palau F, Artuch R", "evidence": [ { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "19304569", "url": "https://glygen.org/publication/PubMed/19304569" } ] }, { "title": "Molecular identification of carnosine synthase as ATP-grasp domain-containing protein 1 (ATPGD1).", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Drozak J, Veiga-da-Cunha M, Vertommen D, Stroobant V, Van Schaftingen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "20097752", "url": "https://glygen.org/publication/PubMed/20097752" } ] }, { "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": "O95954", "url": "https://www.uniprot.org/uniprot/O95954" }, { "database": "iPTMnet", "id": "O95954", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95954" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "UPF0586 Protein C9orf41 Homolog Is Anserine-producing Methyltransferase.", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "Drozak J, Piecuch M, Poleszak O, Kozlowski P, Chrobok L, Baelde HJ, de Heer E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "26001783", "url": "https://glygen.org/publication/PubMed/26001783" } ] }, { "title": "A functional promoter variant of the human formimidoyltransferase cyclodeaminase (FTCD) gene is associated with working memory performance in young but not older adults.", "journal": "Neuropsychology", "date": "2018", "authors": "Greenwood PM, Schmidt K, Lin MK, Lipsky R, Parasuraman R, Jankord R", "evidence": [ { "database": "RefSeq", "id": "NP_001307341", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307341" } ], "reference": [ { "type": "PubMed", "id": "29927301", "url": "https://glygen.org/publication/PubMed/29927301" } ] }, { "title": "The Diagnostic Value of Arginase-1, FTCD, and MOC-31 Expression in Early Detection of Hepatocellular Carcinoma (HCC) and in Differentiation Between HCC and Metastatic Adenocarcinoma to the Liver.", "journal": "Journal of gastrointestinal cancer", "date": "2020", "authors": "Labib OH, Harb OA, Khalil OH, Baiomy TA, Gertallah LM, Ahmed RZ", "evidence": [ { "database": "RefSeq", "id": "NP_001307341", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307341" } ], "reference": [ { "type": "PubMed", "id": "30784016", "url": "https://glygen.org/publication/PubMed/30784016" } ] }, { "title": "A missense variant in FTCD is associated with arsenic metabolism and toxicity phenotypes in Bangladesh.", "journal": "PLoS genetics", "date": "2019", "authors": "Pierce BL, Tong L, Dean S, Argos M, Jasmine F, Rakibuz-Zaman M, Sarwar G, Islam MT, Shahriar H, Islam T, Rahman M, Yunus M, Lynch VJ, Oglesbee D, Graziano JH, Kibriya MG, Gamble MV, Ahsan H", "evidence": [ { "database": "RefSeq", "id": "NP_001307341", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307341" } ], "reference": [ { "type": "PubMed", "id": "30893314", "url": "https://glygen.org/publication/PubMed/30893314" } ] }, { "title": "p97 and p47 function in membrane tethering in cooperation with FTCD during mitotic Golgi reassembly.", "journal": "The EMBO journal", "date": "2021", "authors": "Kaneko Y, Shimoda K, Ayala R, Goto Y, Panico S, Zhang X, Kondo H", "evidence": [ { "database": "RefSeq", "id": "NP_001307341", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307341" } ], "reference": [ { "type": "PubMed", "id": "33555040", "url": "https://glygen.org/publication/PubMed/33555040" } ] }, { "title": "The nucleotide sequence of porcine formiminotransferase cyclodeaminase. Expression and purification from Escherichia coli.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Murley LL, Mejia NR, MacKenzie RE", "evidence": [ { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "7901203", "url": "https://glygen.org/publication/PubMed/7901203" } ] }, { "title": "Structure and function of human histamine N-methyltransferase: critical enzyme in histamine metabolism in airway.", "journal": "The American journal of physiology", "date": "1994", "authors": "Yamauchi K, Sekizawa K, Suzuki H, Nakazawa H, Ohkawara Y, Katayose D, Ohtsu H, Tamura G, Shibahara S, Takemura M, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "7943261", "url": "https://glygen.org/publication/PubMed/7943261" } ] } ], "pathway": [ { "id": "hsa:10841", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10841", "resource": "KEGG Pathway" }, { "id": "R-HSA-70921", "name": "Histidine catabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921", "resource": "Reactome", "description": "Histidine catabolism" } ], "orthologs": [ { "uniprot_canonical_ac": "O88618-1", "protein_name": "Formimidoyltransferase-cyclodeaminase", "gene_name": "Ftcd", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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