{ "uniprot_canonical_ac": "Q16719-1", "uniprot_ac": "Q16719", "uniprot_id": "KYNU_HUMAN", "mass": { "chemical_mass": 52352.0, "monoisotopic_mass": 52352.0 }, "refseq": { "ac": "NP_001028170", "name": "kynureninase isoform b", "summary": "Kynureninase is a pyridoxal-5'-phosphate (pyridoxal-P) dependent enzyme that catalyzes the cleavage of L-kynurenine and L-3-hydroxykynurenine into anthranilic and 3-hydroxyanthranilic acids, respectively. Kynureninase is involved in the biosynthesis of NAD cofactors from tryptophan through the kynurenine pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028170" }, "gene_names": [ { "name": "KYNU", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q16719", "id": "Q16719" }, { "name": "KYNUU; VCRL2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028170", "id": "NP_001028170" }, { "name": "KYNU", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028170", "id": "NP_001028170" } ], "protein_names": [ { "name": "Kynureninase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q16719" }, { "name": "3.7.1.3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q16719" }, { "name": "L-kynurenine hydrolase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q16719" }, { "name": "kynureninase isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028170", "id": "NP_001028170" } ], "function": [ { "annotation": "A novel role of kynureninase in the growth control of breast cancer cells and its relationships with breast cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001028170", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028170" }, { "database": "PubMed", "id": "31332944", "url": "https://glygen.org/publication/PubMed/31332944" } ] }, { "annotation": "Catalyzes the cleavage of L-kynurenine (L-Kyn) and L-3-hydroxykynurenine (L-3OHKyn) into anthranilic acid (AA) and 3-hydroxyanthranilic acid (3-OHAA), respectively. Has a preference for the L-3-hydroxy form. Also has cysteine-conjugate-beta-lyase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q16719", "url": "https://www.uniprot.org/uniprot/Q16719#function" }, { "database": "PubMed", "id": "17300176", "url": "https://glygen.org/publication/PubMed/17300176" }, { "database": "PubMed", "id": "8706755", "url": "https://glygen.org/publication/PubMed/8706755" }, { "database": "PubMed", "id": "11985583", "url": "https://glygen.org/publication/PubMed/11985583" }, { "database": "PubMed", "id": "28792876", "url": "https://glygen.org/publication/PubMed/28792876" }, { "database": "PubMed", "id": "9180257", "url": "https://glygen.org/publication/PubMed/9180257" } ] }, { "annotation": "Kynureninase is a pyridoxal-5'-phosphate (pyridoxal-P) dependent enzyme that catalyzes the cleavage of L-kynurenine and L-3-hydroxykynurenine into anthranilic and 3-hydroxyanthranilic acids, respectively. Kynureninase is involved in the biosynthesis of NAD cofactors from tryptophan through the kynurenine pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001028170", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028170" } ] }, { "annotation": "Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL-like association, and isolated anorectal malformation.", "evidence": [ { "database": "RefSeq", "id": "NP_001028170", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028170" }, { "database": "PubMed", "id": "35362267", "url": "https://glygen.org/publication/PubMed/35362267" } ] }, { "annotation": "TDO2 knockdown inhibits colorectal cancer progression via TDO2-KYNU-AhR pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_001028170", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028170" }, { "database": "PubMed", "id": "34051337", "url": "https://glygen.org/publication/PubMed/34051337" } ] }, { "annotation": "The TZM-bl Reporter Cell Line Expresses Kynureninase That Can Neutralize 2F5-like Antibodies in the HIV-1 Neutralization Assay. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001028170", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028170" }, { "database": "PubMed", "id": "35054825", "url": "https://glygen.org/publication/PubMed/35054825" } ] } ], "disease": [ { "disease_id": "DOID:0112257", "recommended_name": { "id": "DOID:0112257", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112257", "name": "hydroxykynureninuria", "description": "An amino acid metabolic disorder characterized by impaired tryptophan metabolism resulting in high urinary excretion of kynurenine, xanthurenic acid and 3-hydroxykynurenine that has_material_basis_in homozygous or compound heterozygous mutation in the KYNU gene on chromosome 2q22.2." }, "synonyms": [ { "id": "DOID:0112257", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112257", "name": "kynureninase deficiency", "description": "" }, { "id": "DOID:0112257", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112257", "name": "xanthurenic aciduria", "description": "" }, { "id": "MONDO:0009372", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009372", "name": "encephalopathy due to hydroxykynureninuria", "description": "Encephalopathy due to hydroxykynureninuria is characterized by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway." }, { "id": "MONDO:0009372", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009372", "name": "Xanthurenic aciduria", "description": "" }, { "id": "MONDO:0009372", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009372", "name": "kynureninase deficiency", "description": "" }, { "id": "MONDO:0009372", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009372", "name": "hydroxykynureninuria", "description": "" }, { "id": "MONDO:0009372", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009372", "name": "kynureninase deficiency, partial", "description": "" }, { "id": "MIM:236800", "resource": "MIM", "url": "https://www.omim.org/entry/236800", "name": "Hydroxykynureninuria", "description": "Hydroxykynureninuria" } ], "evidence": [ { "id": "236800", "database": "MIM", "url": "https://www.omim.org/entry/236800" } ] }, { "disease_id": "MONDO:0060555", "recommended_name": { "id": "MONDO:0060555", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0060555", "name": "vertebral, cardiac, renal, and limb defects syndrome 2", "description": "" }, "synonyms": [ { "id": "MONDO:0060555", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0060555", "name": "vertebral, cardiac, renal, and limb defects syndrome 2", "description": "" }, { "id": "MONDO:0060555", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0060555", "name": "VCRL2", "description": "" }, { "id": "MONDO:0060555", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0060555", "name": "congenital NAD deficiency disorder 2", "description": "" }, { "id": "MONDO:0060555", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0060555", "name": "kynureninase deficiency, complete", "description": "" }, { "id": "MIM:617661", "resource": "MIM", "url": "https://www.omim.org/entry/617661", "name": "Vertebral, cardiac, renal, and limb defects syndrome 2", "description": "Vertebral, cardiac, renal, and limb defects syndrome 2" } ], "evidence": [ { "id": "617661", "database": "MIM", "url": "https://www.omim.org/entry/617661" } ] } ], "snv": [ { "evidence": [ { "id": "Q16719", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q16719" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 75, "end_pos": 75, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "142918663", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S75", "disease": [ { "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:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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" } ] }, { "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", 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"https://www.ensembl.org/id/ENST00000613664.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000482009.1", "url": "https://www.ensembl.org/id/ENSP00000482009.1" } ] } }, { "isoform_ac": "A0A087X297-1", "url": "", "sequence": { "sequence": "ADTVQRIAAELKCHPTDERVALHLDEEDKLRHFRECFYIPKIQDLPPVDLSLVNKDENAIYFLGNSLGLQPKMVKTYLEEELDKWAKIAAYGHEVGKRPWITGDESIVGLMKDIVGANEKEIALMNALTVNLHLLMLSFFKPTPKRYKILLEAKAFPSDHYAIESQLQLHGLNIEESMRMIKPREGEETLRIEDILEVIEKEGDSIAVILFSGVHFYTGQHFNIPAITKAGQAKVV", "length": 236, "header": "tr|A0A087X297-1|A0A087X297_HUMAN Computationally mapped isoform of Kynureninase OS=Homo sapiens OX=9606 GN=KYNU PE=1 SV=1 CANONICAL=Q16719-1" }, "locus": { "chromosome": "2", "start_pos": 142964658, "end_pos": 142885395, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000621320.4", "url": "https://www.ensembl.org/id/ENST00000621320.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000484801.1", "url": "https://www.ensembl.org/id/ENSP00000484801.1" } ] } }, { "isoform_ac": "B8ZZA3-1", "url": "", "sequence": { "sequence": "MEPSSLELPADTVQRIAAELKCHPTDERVALHLDEEDKLRHFRECFYIPKIQDLPPVDLSLVNKDENAIYFLGNSLGLQPKMVKTYLEEELDKWAKIAAYGHEVGKRPWITGDESIVGLMKDIVATLTDPQHNQPGNDLSMCNLKSSC", "length": 148, "header": "tr|B8ZZA3-1|KYNU_HUMAN Computationally mapped isoform of Kynureninase OS=Homo sapiens OX=9606 GN=KYNU PE=1 SV=1 CANONICAL=Q16719-1" }, "locus": { "chromosome": "2", "start_pos": 142947179, "end_pos": 142885368, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000410015.6", "url": "https://www.ensembl.org/id/ENST00000410015.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000387296.1", "url": "https://www.ensembl.org/id/ENSP00000387296.1" } ] } }, { "isoform_ac": "F8WEP1-1", "url": "", "sequence": { "sequence": "MEPSSLELPADTVQRIAAELKCHPTDERVALHLDEEDKLRHFRECFYIPKIQDLPPEQPMVMKWGSVLGLQEMRVL", "length": 76, "header": "tr|F8WEP1-1|KYNU_HUMAN Computationally mapped isoform of Kynureninase OS=Homo sapiens OX=9606 GN=KYNU PE=1 SV=1 CANONICAL=Q16719-1" }, "locus": { "chromosome": "2", "start_pos": 142927717, "end_pos": 142885368, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000424385.5", "url": "https://www.ensembl.org/id/ENST00000424385.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000401190.1", "url": "https://www.ensembl.org/id/ENSP00000401190.1" } ] } }, { "isoform_ac": "Q16719-1", "url": "", "sequence": { "sequence": "MEPSSLELPADTVQRIAAELKCHPTDERVALHLDEEDKLRHFRECFYIPKIQDLPPVDLSLVNKDENAIYFLGNSLGLQPKMVKTYLEEELDKWAKIAAYGHEVGKRPWITGDESIVGLMKDIVGANEKEIALMNALTVNLHLLMLSFFKPTPKRYKILLEAKAFPSDHYAIESQLQLHGLNIEESMRMIKPREGEETLRIEDILEVIEKEGDSIAVILFSGVHFYTGQHFNIPAITKAGQAKGCYVGFDLAHAVGNVELYLHDWGVDFACWCSYKYLNAGAGGIAGAFIHEKHAHTIKPALVGWFGHELSTRFKMDNKLQLIPGVCGFRISNPPILLVCSLHASLEIFKQATMKALRKKSVLLTGYLEYLIKHNYGKDKAATKKPVVNIITPSHVEERGCQLTITFSVPNKDVFQELEKRGVVCDKRNPNGIRVAPVPLYNSFHDVYKFTNLLTSILDSAETKN", "length": 465, "header": "sp|Q16719-1|KYNU_HUMAN Isoform 1 of Kynureninase OS=Homo sapiens OX=9606 GN=KYNU PE=1 SV=1 CANONICAL=Q16719-1" }, "locus": { "chromosome": "2", "start_pos": 143042169, "end_pos": 142885368, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000264170.9", "url": "https://www.ensembl.org/id/ENST00000264170.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000264170.4", "url": "https://www.ensembl.org/id/ENSP00000264170.4" } ] } }, { "isoform_ac": "Q16719-2", "url": "", "sequence": { "sequence": "MEPSSLELPADTVQRIAAELKCHPTDERVALHLDEEDKLRHFRECFYIPKIQDLPPVDLSLVNKDENAIYFLGNSLGLQPKMVKTYLEEELDKWAKIAAYGHEVGKRPWITGDESIVGLMKDIVGANEKEIALMNALTVNLHLLMLSFFKPTPKRYKILLEAKAFPSDHYAIESQLQLHGLNIEESMRMIKPREGEETLRIEDILEVIEKEGDSIAVILFSGVHFYTGQHFNIPAITKAGQAKGCYVGFDLAHAVGNVELYLHDWGVDFACWCSYKYLNAGAGGIAGAFIHEKHAHTIKPARSEFFN", "length": 307, "header": "sp|Q16719-2|KYNU_HUMAN Isoform 2 of Kynureninase OS=Homo sapiens OX=9606 GN=KYNU PE=1 SV=1 CANONICAL=Q16719-1" }, "locus": { "chromosome": "2", "start_pos": 142988863, "end_pos": 142885368, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000375773.6", "url": "https://www.ensembl.org/id/ENST00000375773.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000364928.2", "url": "https://www.ensembl.org/id/ENSP00000364928.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q16719", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q16719" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "phosphorylation": [ { "start_pos": 111, "end_pos": 111, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q16719", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16719" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr111" }, { "start_pos": 115, "end_pos": 115, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q16719", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16719" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser115" }, { "start_pos": 297, "end_pos": 297, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q16719", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16719" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr297" }, { "start_pos": 365, "end_pos": 365, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q16719", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16719" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr365" }, { "start_pos": 460, "end_pos": 460, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q16719", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16719" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser460" }, { "start_pos": 463, "end_pos": 463, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q16719", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16719" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr463" }, { "start_pos": 5, "end_pos": 5, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q16719", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16719" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser5" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Human LAT1, a subunit of system L amino acid transporter: molecular cloning and transport function.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Prasad PD, Wang H, Huang W, Kekuda R, Rajan DP, Leibach FH, Ganapathy V", "evidence": [ { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "10049700", "url": "https://glygen.org/publication/PubMed/10049700" } ] }, { "title": "Identification of a membrane protein, LAT-2, that Co-expresses with 4F2 heavy chain, an L-type amino acid transport activity with broad specificity for small and large zwitterionic amino acids.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Pineda M, Fernandez E, Torrents D, Estevez R, Lopez C, Camps M, Lloberas J, Zorzano A, Palacin M", "evidence": [ { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "10391915", "url": "https://glygen.org/publication/PubMed/10391915" } ] }, { "title": "Functional characterization and mechanism of action of recombinant human kynurenine 3-hydroxylase.", "journal": "European journal of biochemistry", "date": "2000", "authors": "Breton J, Avanzi N, Magagnin S, Covini N, Magistrelli G, Cozzi L, Isacchi A", "evidence": [ { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "10672018", "url": "https://glygen.org/publication/PubMed/10672018" } ] }, { "title": "Purification and biochemical characterization of some of the properties of recombinant human kynureninase.", "journal": "Eur. J. Biochem.", "date": "2002", "authors": "Botting N.P., Walsh H.A.", "evidence": [ { "database": "UniProtKB", "id": "Q16719", "url": "https://www.uniprot.org/uniprot/Q16719" } ], "reference": [ { "type": "PubMed", "id": "11985583", "url": "https://glygen.org/publication/PubMed/11985583" } ] }, { "title": "Kynurenine formamidase: determination of primary structure and modeling-based prediction of tertiary structure and catalytic triad.", "journal": "Biochimica et biophysica acta", "date": "2002", "authors": "Pabarcus MK, Casida JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "12007602", "url": "https://glygen.org/publication/PubMed/12007602" } ] }, { "title": "Identification and expression of a cDNA encoding human alpha-amino-beta-carboxymuconate-epsilon-semialdehyde decarboxylase (ACMSD). A key enzyme for the tryptophan-niacine pathway and `quinolinate hypothesis`.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Fukuoka S, Ishiguro K, Yanagihara K, Tanabe A, Egashira Y, Sanada H, Shibata K", "evidence": [ { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "12140278", "url": "https://glygen.org/publication/PubMed/12140278" } ] }, { "title": "The transamination of kynurenine.", "journal": "The Journal of biological chemistry", "date": "1953", "authors": "MILLER IL, TSUCHIDA M, ADELBERG EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "13069505", "url": "https://glygen.org/publication/PubMed/13069505" } ] }, { "title": "Crystal structure of human kynurenine aminotransferase I.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Rossi F, Han Q, Li J, Li J, Rizzi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "15364907", "url": "https://glygen.org/publication/PubMed/15364907" } ] }, { "title": "Characterization of kynurenine aminotransferase III, a novel member of a phylogenetically conserved KAT family.", "journal": "Gene", "date": "2006", "authors": "Yu P, Li Z, Zhang L, Tagle DA, Cai T", "evidence": [ { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "16376499", "url": "https://glygen.org/publication/PubMed/16376499" } ] }, { "title": "Crystal structure of human indoleamine 2,3-dioxygenase: catalytic mechanism of O2 incorporation by a heme-containing dioxygenase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Sugimoto H, Oda S, Otsuki T, Hino T, Yoshida T, Shiro Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "16477023", "url": "https://glygen.org/publication/PubMed/16477023" } ] }, { "title": "Crystal structure of Homo sapiens kynureninase.", "journal": "Biochemistry", "date": "2007", "authors": "Lima S, Khristoforov R, Momany C, Phillips RS", "evidence": [ { "database": "UniProtKB", "id": "Q16719", "url": "https://www.uniprot.org/uniprot/Q16719" } ], "reference": [ { "type": "PubMed", "id": "17300176", "url": "https://glygen.org/publication/PubMed/17300176" } ] }, { "title": "Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase.", "journal": "J. Inherit. Metab. Dis.", "date": "2007", "authors": "Christensen M, Duno M, Lund AM, Skovby F, Christensen E", "evidence": [ { "database": "UniProtKB", "id": "Q16719", "url": "https://www.uniprot.org/uniprot/Q16719" } ], "reference": [ { "type": "PubMed", "id": "17334708", "url": "https://glygen.org/publication/PubMed/17334708" } ] }, { "title": "Novel tryptophan catabolic enzyme IDO2 is the preferred biochemical target of the antitumor indoleamine 2,3-dioxygenase inhibitory compound D-1-methyl-tryptophan.", "journal": "Cancer research", "date": "2007", "authors": "Metz R, Duhadaway JB, Kamasani U, Laury-Kleintop L, Muller AJ, Prendergast GC", "evidence": [ { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "17671174", "url": "https://glygen.org/publication/PubMed/17671174" } ] }, { "title": "Crystal structure of human kynurenine aminotransferase II.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Han Q, Robinson H, Li J", "evidence": [ { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "18056995", "url": "https://glygen.org/publication/PubMed/18056995" } ] }, { "title": "Structural insight into the inhibition of human kynurenine aminotransferase I/glutamine transaminase K.", "journal": "Journal of medicinal chemistry", "date": "2009", "authors": "Han Q, Robinson H, Cai T, Tagle DA, Li J", "evidence": [ { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "19338303", "url": "https://glygen.org/publication/PubMed/19338303" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q16719-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q16719-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "SLC36A4 (hPAT4) is a high affinity amino acid transporter when expressed in Xenopus laevis oocytes.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Pillai SM, Meredith D", "evidence": [ { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "21097500", "url": "https://glygen.org/publication/PubMed/21097500" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q16719", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q16719" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "NAD deficiency, congenital malformations, and niacin supplementation.", "journal": "N. Engl. J. Med.", "date": "2017", "authors": "Shi H, Enriquez A, Rapadas M, Martin EMMA, Wang R, Moreau J, Lim CK, Szot JO, Ip E, Hughes JN, Sugimoto K, Humphreys DT, McInerney-Leo AM, Leo PJ, Maghzal GJ, Halliday J, Smith J, Colley A, Mark PR, Collins F, Sillence DO, Winlaw DS, Ho JWK, Guillemin GJ, Brown MA, Kikuchi K, Thomas PQ, Stocker R, Giannoulatou E, Chapman G, Duncan EL, Sparrow DB, Dunwoodie SL", "evidence": [ { "database": "UniProtKB", "id": "Q16719", "url": "https://www.uniprot.org/uniprot/Q16719" } ], "reference": [ { "type": "PubMed", "id": "28792876", "url": "https://glygen.org/publication/PubMed/28792876" } ] }, { "title": "A novel role of kynureninase in the growth control of breast cancer cells and its relationships with breast cancer.", "journal": "Journal of cellular and molecular medicine", "date": "2019", "authors": "Liu Y, Feng X, Lai J, Yi W, Yang J, Du T, Long X, Zhang Y, Xiao Y", "evidence": [ { "database": "RefSeq", "id": "NP_001028170", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028170" } ], "reference": [ { "type": "PubMed", "id": "31332944", "url": "https://glygen.org/publication/PubMed/31332944" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q16719", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q16719" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "TDO2 knockdown inhibits colorectal cancer progression via TDO2-KYNU-AhR pathway.", "journal": "Gene", "date": "2021", "authors": "Zhao L, Wang B, Yang C, Lin Y, Zhang Z, Wang S, Ye Y, Shen Z", "evidence": [ { "database": "RefSeq", "id": "NP_001028170", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028170" } ], "reference": [ { "type": "PubMed", "id": "34051337", "url": "https://glygen.org/publication/PubMed/34051337" } ] }, { "title": "The TZM-bl Reporter Cell Line Expresses Kynureninase That Can Neutralize 2F5-like Antibodies in the HIV-1 Neutralization Assay.", "journal": "International journal of molecular sciences", "date": "2022", "authors": "Morozov V, Lagaye S, Morozov A", "evidence": [ { "database": "RefSeq", "id": "NP_001028170", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028170" } ], "reference": [ { "type": "PubMed", "id": "35054825", "url": "https://glygen.org/publication/PubMed/35054825" } ] }, { "title": "Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL-like association, and isolated anorectal malformation.", "journal": "Birth defects research", "date": "2022", "authors": "Thiem CE, Stegmann JD, Hilger AC, Waffenschmidt L, Bendixen C, Kollges R, Schmiedeke E, Schafer FM, Lacher M, Kosch F, Grasshoff-Derr S, Kabs C, Neser J, Jenetzky E, Fazaal J, Schumacher J, Hoefele J, Ludwig KU, Reutter H", "evidence": [ { "database": "RefSeq", "id": "NP_001028170", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028170" } ], "reference": [ { "type": "PubMed", "id": "35362267", "url": "https://glygen.org/publication/PubMed/35362267" } ] }, { "title": "Molecular cloning and functional expression of human 3-hydroxyanthranilic-acid dioxygenase.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Malherbe P, Kohler C, Da Prada M, Lang G, Kiefer V, Schwarcz R, Lahm HW, Cesura AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "7514594", "url": "https://glygen.org/publication/PubMed/7514594" } ] }, { "title": "Molecular cloning and expression of a cDNA for human kidney cysteine conjugate beta-lyase.", "journal": "FEBS letters", "date": "1995", "authors": "Perry S, Harries H, Scholfield C, Lock T, King L, Gibson G, Goldfarb P", "evidence": [ { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "7883047", "url": "https://glygen.org/publication/PubMed/7883047" } ] }, { "title": "Purification and characterization of kynurenine aminotransferase I from human brain.", "journal": "Journal of neurochemistry", "date": "1994", "authors": "Baran H, Okuno E, Kido R, Schwarcz R", "evidence": [ { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "8294935", "url": "https://glygen.org/publication/PubMed/8294935" } ] }, { "title": "Sequence of human tryptophan 2,3-dioxygenase (TDO2): presence of a glucocorticoid response-like element composed of a GTT repeat and an intronic CCCCT repeat.", "journal": "Genomics", "date": "1995", "authors": "Comings DE, Muhleman D, Dietz G, Sherman M, Forest GL", "evidence": [ { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "8666386", "url": "https://glygen.org/publication/PubMed/8666386" } ] }, { "title": "Isolation and expression of a cDNA clone encoding human kynureninase.", "journal": "Eur. J. Biochem.", "date": "1996", "authors": "Alberati-Giani D, Buchli R, Malherbe P, Broger C, Lang G, Kohler C, Lahm HW, Cesura AM", "evidence": [ { "database": "UniProtKB", "id": "Q16719", "url": "https://www.uniprot.org/uniprot/Q16719" } ], "reference": [ { "type": "PubMed", "id": "8706755", "url": "https://glygen.org/publication/PubMed/8706755" } ] }, { "title": "Cloning and recombinant expression of rat and human kynureninase.", "journal": "FEBS Lett.", "date": "1997", "authors": "Toma S, Nakamura M, Tone S, Okuno E, Kido R, Breton J, Avanzi N, Cozzi L, Speciale C, Mostardini M, Gatti S, Benatti L", "evidence": [ { "database": "UniProtKB", "id": "Q16719", "url": "https://www.uniprot.org/uniprot/Q16719" }, { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "9180257", "url": "https://glygen.org/publication/PubMed/9180257" } ] } ], "pathway": [ { "id": "hsa:8942", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8942", "resource": "KEGG Pathway" }, { "id": "R-HSA-71240", "name": "Tryptophan catabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240", "resource": "Reactome", "description": "Tryptophan catabolism" } ], "orthologs": [ { "uniprot_canonical_ac": "P70712-1", "protein_name": "Kynureninase", "gene_name": "Kynu", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MEPSPLELPVDAVRRIATELNCDPTDERVALRLDEEDKLKRFKDCFYIPKMRDLPSIDLSLVNEDDNAIYFLGNSLGLQPKMVKTYLEEELDKWAKIGAYGHEVGKRPWIIGDESIVSLMKDIVGAHEKEIALMNALTVNLHLLLLSFFKPTPKRHKILLEAKAFPSDHYAIESQIQLHGLDVEKSMRMIKPREGEETLRMEDILEVIEKEGDSIAVVLFSGLHFYTGQLFNIPAITQAGHAKGCFVGFDLAHAVGNVELHLHDWDVDFACWCSYKYLNSGAGGLAGAFIHEKHAHTIKPALVGWFGHELSTRFNMDNKLQLIPGVNGFRISNPPILLVCSLHASLEIFQQATMTALRRKSILLTGYLEYLLKHYHGGNDTENKRPVVNIITPSRAEERGCQLTLTFSISKKGVFKELEKRGVVCDKREPEGIRVAPVPLYNSFHDVYKFIRLLTAILDSTERN", "length": 464 }, "evidence": [ { "id": "45236657", "url": "http://www.informatics.jax.org/homology/45236657", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q05979-1", "protein_name": "Kynureninase", "gene_name": "BNA5", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MEKALELDGEYPESLRDEFNIPTFKSMGLSSDDKPVTYLCGNSLGLMPKSTRNSINAELDAWSDCAVESHFKHPEEARGKVPWVSIDLPILPLLAPIVGAQENEVAVMNSLTANLNSLLITFYKPTEKRFKILFEKGSFPSDYYAFYNQCKIHGISEPENVFIQIEPREGETYIRTQDILDTIEVNQDELALVCLSGVQYYTGQYFDIGRITSFAHQFPDILVGWDLAHAVGNVPLQLHDWGVDFACWCSYKYLNAGPGGIGGLFVHSKHTKPDPAKESLPRLAGWWGNDPAKRFQMLEVFEPIPGALGFRQSNPSVIDTVALRSSLELFAKFNGINEVRKRSLLLTNYMTELLEASKYYKHPLRIEKLPCFFTILTPTSTDEEHGAQLSLYFDSDTGKEDIMPKVFQYLHDHGVIGDARRPNVIRLAPAPLYNTFSDVYIAVNALNEAMDKL", "length": 453 }, "evidence": [ { "id": "Q16719", "url": "https://omabrowser.org/oma/group/Q16719/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q9CXF0-1", "protein_name": "Kynureninase", "gene_name": "Kynu", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MEPSPLELPVDAVRRIAAELNCDPTDERVALRLDEEDKLSHFRNCFYIPKMRDLPSIDLSLVSEDDDAIYFLGNSLGLQPKMVRTYLEEELDKWAKMGAYGHDVGKRPWIVGDESIVSLMKDIVGAHEKEIALMNALTINLHLLLLSFFKPTPKRHKILLEAKAFPSDHYAIESQIQLHGLDVEKSMRMVKPREGEETLRMEDILEVIEEEGDSIAVILFSGLHFYTGQLFNIPAITKAGHAKGCFVGFDLAHAVGNVELRLHDWGVDFACWCSYKYLNSGAGGLAGAFVHEKHAHTVKPALVGWFGHDLSTRFNMDNKLQLIPGANGFRISNPPILLVCSLHASLEVFQQATMTALRRKSILLTGYLEYMLKHYHSKDNTENKGPIVNIITPSRAEERGCQLTLTFSIPKKSVFKELEKRGVVCDKREPDGIRVAPVPLYNSFHDVYKFIRLLTSILDSSERS", "length": 464 }, "evidence": [ { "id": "45236657", "url": "http://www.informatics.jax.org/homology/45236657", "database": "MGI" }, { "id": "Q16719", "url": "https://omabrowser.org/oma/group/Q16719/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q16719", "url": "https://www.uniprot.org/uniprot/Q16719" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q16719", "url": "https://www.uniprot.org/uniprot/Q16719" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q16719", "url": "https://www.uniprot.org/uniprot/Q16719" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q16719", "url": "https://www.uniprot.org/uniprot/Q16719" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 9, "go_terms": [ { "name": "tryptophan catabolic process", "id": "GO:0006569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006569", "evidence": [ { "database": "UniProtKB", "id": "Q16719", "url": "https://www.uniprot.org/uniprot/Q16719" } ], "pmid": "" }, { "name": "NAD biosynthetic process", "id": "GO:0009435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009435", "evidence": [ { "database": "UniProtKB", "id": "Q16719", "url": "https://www.uniprot.org/uniprot/Q16719" } ], "pmid": "" }, { "name": "L-kynurenine catabolic process", "id": "GO:0097053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097053", "evidence": [ { "database": "UniProtKB", "id": "Q16719", "url": "https://www.uniprot.org/uniprot/Q16719" } ], "pmid": "" }, { "name": "tryptophan catabolic process to kynurenine", "id": "GO:0019441", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019441", "evidence": [ { "database": "UniProtKB", "id": "Q16719", "url": "https://www.uniprot.org/uniprot/Q16719" } ], "pmid": "" }, { "name": "quinolinate biosynthetic process", "id": "GO:0019805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019805", "evidence": [ { "database": "UniProtKB", "id": "Q16719", "url": "https://www.uniprot.org/uniprot/Q16719" } ], "pmid": "" }, { "name": "response to vitamin B6", "id": "GO:0034516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034516", "evidence": [ { "database": "UniProtKB", "id": "Q16719", "url": "https://www.uniprot.org/uniprot/Q16719" } ], "pmid": "" }, { "name": "anthranilate metabolic process", "id": "GO:0043420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043420", "evidence": [ { "database": "UniProtKB", "id": "Q16719", "url": "https://www.uniprot.org/uniprot/Q16719" } ], "pmid": "" }, { "name": "response to type II interferon", "id": "GO:0034341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034341", "evidence": [ { "database": "UniProtKB", "id": "Q16719", "url": "https://www.uniprot.org/uniprot/Q16719" } ], "pmid": "" }, { "name": "'de novo' NAD biosynthetic process from tryptophan", "id": "GO:0034354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034354", "evidence": [ { "database": "UniProtKB", "id": "Q16719", "url": "https://www.uniprot.org/uniprot/Q16719" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "pyridoxal phosphate binding", "id": "GO:0030170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030170", "evidence": [ { "database": "UniProtKB", "id": "Q16719", "url": "https://www.uniprot.org/uniprot/Q16719" } ], "pmid": "" }, { "name": "kynureninase activity", "id": "GO:0030429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030429", "evidence": [ { "database": "UniProtKB", "id": "Q16719", "url": "https://www.uniprot.org/uniprot/Q16719" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q16719", "url": "https://www.uniprot.org/uniprot/Q16719" } ], "pmid": "" }, { "name": "3-hydroxykynureninase activity", "id": "GO:0061981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061981", "evidence": [ { "database": "UniProtKB", "id": "Q16719", "url": "https://www.uniprot.org/uniprot/Q16719" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "16813", "name": "", "equation": "H2O + L-kynurenine = anthranilate + H(+) + L-alanine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P70712-1", "Q16719-1", "Q9CXF0-1", "Q05979-1", "Q54Q04-1" ], "evidence": [ { "id": "16813", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/16813" } ] }, { "id": "25143", "name": "", "equation": "3-hydroxy-L-kynurenine + H2O = 3-hydroxyanthranilate + H(+) + L-alanine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P70712-1", "Q16719-1", "Q9CXF0-1", "Q05979-1", "Q54Q04-1" ], "evidence": [ { "id": "25143", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/25143" } ] }, { "id": "R-HSA-71217", "name": "3-hydroxykynurenine + H2O => 3-hydroxyanthranilate + alanine", "equation": "", "summary": "Cytosolic kynureninase catalyzes the hydrolysis of 3-hydroxy-L-kynurenine to form L-alanine and 3-hydroxyanthranilate.", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q16719-1" ], "evidence": [ { "id": "R-HSA-71217", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71217" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "P70712", "gene_name": "Kynu", "activity": [ { "ec_number": "3.7.1.3", "activity": "H2O + L-kynurenine = anthranilate + H(+) + L-alanine.", "evidence": [ { "id": "P70712", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P70712" } ] }, { "ec_number": "3.7.1.3", "activity": "", "evidence": [ { "id": "P70712", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P70712" } ] } ] }, { "uniprot_ac": "Q05979", 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