{ "uniprot_canonical_ac": "O43766-1", "uniprot_ac": "O43766", "uniprot_id": "LIAS_HUMAN", "mass": { "chemical_mass": 41911.0, "monoisotopic_mass": 41911.0 }, "refseq": { "ac": "NP_001265519", "name": "lipoyl synthase, mitochondrial isoform 3 precursor", "summary": "The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. Localized in the mitochondrion, this iron-sulfur enzyme catalyzes the final step in the de novo pathway for the biosynthesis of lipoic acid, a potent antioxidant. The deficient expression of this enzyme has been linked to conditions such as diabetes, atherosclerosis and neonatal-onset epilepsy. Alternative splicing occurs at this locus, and several transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Aug 2020].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265519" }, "gene_names": [ { "name": "LIAS", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43766", "id": "O43766" }, { "name": "HGCLAS; HUSSY-01; LAS; LIP1; LS; PDHLD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265519", "id": "NP_001265519" }, { "name": "HUSSY-01", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43766", "id": "O43766" }, { "name": "LAS", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43766", "id": "O43766" }, { "name": "LIAS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265519", "id": "NP_001265519" } ], "protein_names": [ { "name": "Lipoyl synthase, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43766" }, { "name": "2.8.1.8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43766" }, { "name": "LS", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43766" }, { "name": "Lip-syn", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43766" }, { "name": "Lipoate synthase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43766" }, { "name": "Lipoic acid synthase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43766" }, { "name": "lipoate synthase; lipoyl synthase, mitochondrial; lip-syn", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265519", "id": "NP_001265519" }, { "name": "lipoyl synthase, mitochondrial isoform 3 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265519", "id": "NP_001265519" } ], "function": [ { "annotation": "Catalyzes the radical-mediated insertion of two sulfur atoms into the C-6 and C-8 positions of the octanoyl moiety bound to the lipoyl domains of lipoate-dependent enzymes, thereby converting the octanoylated domains into lipoylated derivatives.", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2PNQ5", "url": "https://www.uniprot.org/uniprot/A0A1W2PNQ5#function" }, { "database": "UniProtKB", "id": "MF_03123", "url": "https://www.uniprot.org/uniprot/MF_03123#function" }, { "database": "UniProtKB", "id": "O43766", "url": "https://www.uniprot.org/uniprot/O43766#function" } ] }, { "annotation": "Characterization and Reconstitution of Human Lipoyl Synthase (LIAS) Supports ISCA2 and ISCU as Primary Cluster Donors and an Ordered Mechanism of Cluster Assembly. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001265519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265519" }, { "database": "PubMed", "id": "33562493", "url": "https://glygen.org/publication/PubMed/33562493" } ] }, { "annotation": "FDX1 regulates cellular protein lipoylation through direct binding to LIAS.", "evidence": [ { "database": "RefSeq", "id": "NP_001265519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265519" }, { "database": "PubMed", "id": "37453661", "url": "https://glygen.org/publication/PubMed/37453661" } ] }, { "annotation": "Heterozygous mutations (c.738-2A>G and c.929T>C (p.Met310Thr)) in LIAS.", "evidence": [ { "database": "RefSeq", "id": "NP_001265519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265519" }, { "database": "PubMed", "id": "26108146", "url": "https://glygen.org/publication/PubMed/26108146" } ] }, { "annotation": "Lipoic acid synthetase deficiency results in an overall disturbance in the antioxidant defense network, leading to increased inflammation, insulin resistance, and mitochondrial dysfunction.", "evidence": [ { "database": "RefSeq", "id": "NP_001265519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265519" }, { "database": "PubMed", "id": "19074983", "url": "https://glygen.org/publication/PubMed/19074983" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001265519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265519" }, { "database": "PubMed", "id": "20877624", "url": "https://glygen.org/publication/PubMed/20877624" } ] }, { "annotation": "Oxoglutarate dehydrogenase (OGDH) and lipoic acid synthase (LIAS), which when mutated stabilize HIF1alpha in a non-hydroxylated form.", "evidence": [ { "database": "RefSeq", "id": "NP_001265519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265519" }, { "database": "PubMed", "id": "27923773", "url": "https://glygen.org/publication/PubMed/27923773" } ] }, { "annotation": "The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. Localized in the mitochondrion, this iron-sulfur enzyme catalyzes the final step in the de novo pathway for the biosynthesis of lipoic acid, a potent antioxidant. The deficient expression of this enzyme has been linked to conditions such as diabetes, atherosclerosis and neonatal-onset epilepsy. Alternative splicing occurs at this locus, and several transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Aug 2020].", "evidence": [ { "database": "RefSeq", "id": "NP_001265519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265519" } ] }, { "annotation": "This study used a bioinformatics approach to predict its structure. . A homology model for LIAS protein was generated using X-ray crystallographic structure of Thermosynechococcus elogatsu. The active site of LIAS protein was mapped and docked with S-Adenosyl Methionine", "evidence": [ { "database": "RefSeq", "id": "NP_001265519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265519" }, { "database": "PubMed", "id": "27717843", "url": "https://glygen.org/publication/PubMed/27717843" } ] }, { "annotation": "We identified the homozygous mutation c.746G>A (p.Arg249His) in LIAS in an individual with neonatal-onset epilepsy, muscular hypotonia, lactic acidosis, and elevated glycine concentration in plasma and urine", "evidence": [ { "database": "RefSeq", "id": "NP_001265519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265519" }, { "database": "PubMed", "id": "22152680", "url": "https://glygen.org/publication/PubMed/22152680" } ] } ], "disease": [ { "disease_id": "MONDO:0013762", "recommended_name": { "id": "MONDO:0013762", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013762", "name": "lipoic acid synthetase deficiency", "description": "Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person." }, "synonyms": [ { "id": "MONDO:0013762", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013762", "name": "HGCLAS", "description": "" }, { "id": "MONDO:0013762", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013762", "name": "PDHLD", "description": "" }, { "id": "MONDO:0013762", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013762", "name": "hyperglycinemia, lactic acidosis, and seizures", "description": "" }, { "id": "MONDO:0013762", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013762", "name": "pyruvate dehydrogenase lipoic acid synthetase deficiency", "description": "" }, { "id": "MIM:614462", "resource": "MIM", "url": "https://www.omim.org/entry/614462", "name": "Hyperglycinemia, lactic acidosis, and seizures", "description": "Hyperglycinemia, lactic acidosis, and seizures" } ], "evidence": [ { "id": "614462", "database": "MIM", "url": "https://www.omim.org/entry/614462" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "69.15", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000121897", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121897" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "70.61", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000121897", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121897" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "68.83", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000121897", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121897" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000121897", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121897" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "84.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000121897", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121897" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "87.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000121897", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121897" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000121897", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121897" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "80.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000121897", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121897" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "78.01", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000121897", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121897" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000121897", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121897" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "77.84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000121897", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121897" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "78.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000121897", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121897" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "79.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000121897", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121897" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43766" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial 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hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, 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cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43766" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "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" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43766" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O43766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43766" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"Protein Classification" ] }, { "id": "PTHR10949", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10949", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10949:SF0", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10949:SF0", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF04055", "url": "http://pfam.xfam.org/family/PF04055", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF16881", "url": "http://pfam.xfam.org/family/PF16881", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O43766", "url": "https://pharos.nih.gov/targets/O43766", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O43766", "url": "http://purl.obolibrary.org/obo/PR_O43766", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001265519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265519", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "16585", "url": "https://www.rhea-db.org/rhea/16585", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A1W2PNQ5", "url": "https://www.uniprot.org/uniprot/A0A1W2PNQ5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PNQ5-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PNQ5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PPM2", "url": "https://www.uniprot.org/uniprot/A0A1W2PPM2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PPM2-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PPM2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PQ02", "url": "https://www.uniprot.org/uniprot/A0A1W2PQ02", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PQ02-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PQ02-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PQ87", "url": "https://www.uniprot.org/uniprot/A0A1W2PQ87", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PQ87-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PQ87-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PQE9", "url": "https://www.uniprot.org/uniprot/A0A1W2PQE9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PQE9-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PQE9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PQS9", "url": "https://www.uniprot.org/uniprot/A0A1W2PQS9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PQS9-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PQS9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PR40", "url": "https://www.uniprot.org/uniprot/A0A1W2PR40", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PR40-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PR40-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PR81", "url": "https://www.uniprot.org/uniprot/A0A1W2PR81", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PR81-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PR81-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PRD2", "url": "https://www.uniprot.org/uniprot/A0A1W2PRD2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PRD2-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PRD2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PRE7", "url": "https://www.uniprot.org/uniprot/A0A1W2PRE7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PRE7-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PRE7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1X7SBR7", "url": "https://www.uniprot.org/uniprot/A0A1X7SBR7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1X7SBR7-1", "url": "https://www.uniprot.org/uniprot/A0A1X7SBR7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B4E0L7", "url": "https://www.uniprot.org/uniprot/B4E0L7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B4E0L7-1", "url": "https://www.uniprot.org/uniprot/B4E0L7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RCP8", "url": "https://www.uniprot.org/uniprot/D6RCP8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RCP8-1", "url": "https://www.uniprot.org/uniprot/D6RCP8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43766", "url": "https://www.uniprot.org/uniprot/O43766", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43766-1", "url": "https://www.uniprot.org/uniprot/O43766-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43766-2", "url": "https://www.uniprot.org/uniprot/O43766-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43766-3", "url": "https://www.uniprot.org/uniprot/O43766-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6P5Q6", "url": "https://www.uniprot.org/uniprot/Q6P5Q6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6P5Q6-1", "url": "https://www.uniprot.org/uniprot/Q6P5Q6-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSLRCGDAARTLGPRVFGRYFCSPVRPLSSLPDKKKELLQNGPDLQDFVSGDLADRSTWDEYKGNLKRQKGERLRLPPWLKTEIPMGKNYNKLKNTLRNLNLHTVCEEARCPNIGECWGGGEYATATATIMLMGDTCTRGCRFCSVKTARNPPPLDASEPYNTAKAIAEWGLDYVVLTSVDRDDMPDGGAEHIAKTVSYLKERNPKILVECLTPDFRGDLKAIEKVALSGLDVYAHNVETVPELQSKVRDPRANFDQSLRVLKHAKKVQPDVISKTSIMLGLGENDEQVYATMKALREADVDCLTLGQYMQPTRRHLKVEEYITPEKFKYWEKVGNELGFHYTASGPLVRSSYKAGEFFLKNLVAKRKTKDL", "length": 372, "header": "sp|O43766-1|LIAS_HUMAN Isoform 1 of Lipoyl synthase, mitochondrial OS=Homo sapiens OX=9606 GN=LIAS PE=1 SV=3 CANONICAL=O43766-1" }, "isoforms": [ { "isoform_ac": "A0A1W2PNQ5-1", "url": "", "sequence": { "sequence": "MSLRCGDAARTLGPRVFGRYFCSPVRPLSSLPDKKKELLQNGPDLQDFVSGDLADRSTWDEYKGNLKRQKGERLRLPPWLKTEIPMGKNYNKLKNTLRNLNLHTVCEEARCPNIGECWGGGEYATATATIMLMGDTCTRGCRFCSVKTARNPPPLDASEPYNTAKAIAEWGLDYVVLTSVDRDDMPDGGAEHIAKTVSYLKERNPKILVECLTPDFRGDLKAIEKVALSGLDVYAHNVETVPELQSFQRREKITLEQLLWL", "length": 261, "header": "tr|A0A1W2PNQ5-1|LIAS_HUMAN Computationally mapped isoform of Lipoyl synthase, mitochondrial OS=Homo sapiens OX=9606 GN=LIAS PE=1 SV=1 CANONICAL=O43766-1" }, "locus": { "chromosome": "4", "start_pos": 39468164, "end_pos": 39459118, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638422.1", "url": "https://www.ensembl.org/id/ENST00000638422.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491001.1", "url": "https://www.ensembl.org/id/ENSP00000491001.1" } ] } }, { "isoform_ac": "A0A1W2PPM2-1", "url": "", "sequence": { "sequence": "MSLRCGDAARTLGPRVFGRYFCSPVRPLSSLPDKKKELLQNGPDLQDFVSGDLADRSTWDEYKGNLKRQKGERLRLPPWLKTEIPMGKNYNKLKNTLRNLNLHTVCEEARCPNIGECWGGGEYATATATIMAGVQRPDDHSSLQPQTSGLKQSFCLSLPSSWDYRNPKILVECLTPDFRGDLKAIEKVALSGLDVYAHNVETVPELQSKVRDPRANFDQSLRVLKHAKKVQPDVISKTSIMLGLGENDEQVYATMKALREADVDCLTLGQYMQPTRRHLKVEEYITPEKFKYWEKVGNELGFHYTASGPLVRSSYKAGEFF", "length": 321, "header": "tr|A0A1W2PPM2-1|LIAS_HUMAN Computationally mapped isoform of Lipoyl synthase, mitochondrial OS=Homo sapiens OX=9606 GN=LIAS PE=1 SV=1 CANONICAL=O43766-1" }, "locus": { "chromosome": "4", "start_pos": 39477073, "end_pos": 39459118, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000640349.1", "url": "https://www.ensembl.org/id/ENST00000640349.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491477.1", "url": "https://www.ensembl.org/id/ENSP00000491477.1" } ] } }, { "isoform_ac": "A0A1W2PQ02-1", "url": "", "sequence": { "sequence": "XDLQDFVSGDLADRSTWDEYKGNLKRQKGES", "length": 31, "header": "tr|A0A1W2PQ02-1|LIAS_HUMAN Computationally mapped isoform of Lipoyl synthase, mitochondrial OS=Homo sapiens OX=9606 GN=LIAS PE=1 SV=1 CANONICAL=O43766-1" }, "locus": { "chromosome": "4", "start_pos": 39465048, "end_pos": 39460873, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638430.1", "url": "https://www.ensembl.org/id/ENST00000638430.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491831.1", "url": "https://www.ensembl.org/id/ENSP00000491831.1" } ] } }, { "isoform_ac": "A0A1W2PQ87-1", "url": "", "sequence": { "sequence": "MSLRCGDAARTLGPRVFGRYFCSPVRPLSSLPDKKKELLQNGPDLQDFVSGDLADRSTWDEYKGNLKRQKGERYVRKLDVPILESVGEVENMPPPQPRSC", "length": 100, "header": "tr|A0A1W2PQ87-1|LIAS_HUMAN Computationally mapped isoform of Lipoyl synthase, mitochondrial OS=Homo sapiens OX=9606 GN=LIAS PE=1 SV=1 CANONICAL=O43766-1" }, "locus": { "chromosome": "4", "start_pos": 39465046, "end_pos": 39459118, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000640689.1", "url": "https://www.ensembl.org/id/ENST00000640689.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491591.1", "url": "https://www.ensembl.org/id/ENSP00000491591.1" } ] } }, { "isoform_ac": "A0A1W2PQE9-1", "url": "", "sequence": { "sequence": "MSLRCGDAARTLGPRVFGRYFCSPVRPLSSLPDKKKELLQNGPDLQDFVSGDLADRSTWDEYKGNLKRQKGERYVRKLDVPILESVGEVENMPPPQPRSCKVRDPRANFDQSLRVLKHAKKVQPDVISKTSIMLGLGENDEQVYATMKALREADVDCLTLGQYMQPTRRHLKVEEYITPEKFKYWEKVGNELGFHYTASGPLVRSSYKAGEFFLKNLVAKRKTKDL", "length": 226, "header": "tr|A0A1W2PQE9-1|LIAS_HUMAN Computationally mapped isoform of Lipoyl synthase, mitochondrial OS=Homo sapiens OX=9606 GN=LIAS PE=1 SV=1 CANONICAL=O43766-1" }, "locus": { "chromosome": "4", "start_pos": 39477112, "end_pos": 39459118, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638451.1", "url": "https://www.ensembl.org/id/ENST00000638451.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491681.1", "url": "https://www.ensembl.org/id/ENSP00000491681.1" } ] } }, { "isoform_ac": "A0A1W2PQS9-1", "url": "", "sequence": { "sequence": "MSLRCGDAARTLGPRVFGRYFCSPVRPLSSLPDKKKELLQNGPDLQDFVSGDLADRSTWDEYKGNLKRQKGERLRLPPWLKTEIPMGKNYNKLKNTLRNLNLHTVCEEARCPNIGECWGGGEYATATATIMESKNPCGVSYS", "length": 142, "header": "tr|A0A1W2PQS9-1|A0A1W2PQS9_HUMAN Computationally mapped isoform of Lipoic acid synthetase OS=Homo sapiens OX=9606 GN=LIAS PE=1 SV=1 CANONICAL=O43766-1" }, "locus": { "chromosome": "4", "start_pos": 39467550, "end_pos": 39459118, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000639422.1", "url": "https://www.ensembl.org/id/ENST00000639422.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491899.1", "url": "https://www.ensembl.org/id/ENSP00000491899.1" } ] } }, { "isoform_ac": "A0A1W2PR40-1", "url": "", "sequence": { "sequence": "MSLRCGDAARTLGPRVFGRYFCSPVRPLSSLPDKKKELLQNGPDLQDFVSGDLADRSTWDEYKGNLKRQKGES", "length": 73, "header": "tr|A0A1W2PR40-1|LIAS_HUMAN Computationally mapped isoform of Lipoyl synthase, mitochondrial OS=Homo sapiens OX=9606 GN=LIAS PE=1 SV=1 CANONICAL=O43766-1" }, "locus": { "chromosome": "4", "start_pos": 39465046, "end_pos": 39459118, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638837.1", "url": "https://www.ensembl.org/id/ENST00000638837.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492038.1", "url": "https://www.ensembl.org/id/ENSP00000492038.1" } ] } }, { "isoform_ac": "A0A1W2PR81-1", "url": "", "sequence": { "sequence": "DLQDFVSGDLADRSTWDEYKGNLKRQKGERLRLPPWLKTEIPMGKNYNKLKNTLRNLNLHTVCEEARCPNIGECWGGGEYATATATIMICLMGELNTLQRPYHI", "length": 104, "header": "tr|A0A1W2PR81-1|LIAS_HUMAN Computationally mapped isoform of Lipoyl synthase, mitochondrial OS=Homo sapiens OX=9606 GN=LIAS PE=1 SV=1 CANONICAL=O43766-1" }, "locus": { "chromosome": "4", "start_pos": 39465332, "end_pos": 39460874, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638816.1", "url": "https://www.ensembl.org/id/ENST00000638816.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492482.1", "url": "https://www.ensembl.org/id/ENSP00000492482.1" } ] } }, { "isoform_ac": "A0A1W2PRD2-1", "url": "", "sequence": { "sequence": "MSLRCGDAARTLGPRVSGGANGFGRGVGGSYPFRAPMPNNKGIWEIFLQPSQTVKLLAR", "length": 59, "header": "tr|A0A1W2PRD2-1|LIAS_HUMAN Computationally mapped isoform of Lipoyl synthase, mitochondrial OS=Homo sapiens OX=9606 GN=LIAS PE=1 SV=1 CANONICAL=O43766-1" }, "locus": { "chromosome": "4", "start_pos": 39460842, "end_pos": 39459118, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000640489.1", "url": "https://www.ensembl.org/id/ENST00000640489.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492540.1", "url": "https://www.ensembl.org/id/ENSP00000492540.1" } ] } }, { "isoform_ac": "A0A1W2PRE7-1", "url": "", "sequence": { "sequence": "KTEIPMGKNYNKLKNTLRNLNLHTVCEEARCPNIGECWGGGEYATATATIMLMGDTCTRGCRFCSVKTARNPPPLDASEPYNTAKAIAEWGLDYVVLTSVDRDDMPDGGAEHIAKTVSYLKESKVRDPRANFDQSLRVLKHAKKVQPDVISKTSIMLGLGENDEQVYATMKALREADVDCLTLGQYMQPTRRHLKVEEYITPEKFKYWEKVGNELGFHYTASGPLVRSSYKAGSCCITQAGVQWHKSAHCNLDLPSSSDPPTSAS", "length": 265, "header": "tr|A0A1W2PRE7-1|LIAS_HUMAN Computationally mapped isoform of Lipoyl synthase, mitochondrial OS=Homo sapiens OX=9606 GN=LIAS PE=1 SV=1 CANONICAL=O43766-1" }, "locus": { "chromosome": "4", "start_pos": 39484501, "end_pos": 39462218, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000640672.1", "url": "https://www.ensembl.org/id/ENST00000640672.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492203.1", "url": "https://www.ensembl.org/id/ENSP00000492203.1" } ] } }, { "isoform_ac": "A0A1X7SBR7-1", "url": "", "sequence": { "sequence": "MSLRCGDAARTLGPRVFGRYFCSPVRPLSSLPDKKKELLQNGPDLQDFVSGDLADRSTWDEYKGNLKRQKGERYVRKLDVPILESVGEVENMPPPQPRSWNPKILVECLTPDFRGDLKAIEKVALSGLDVYAHNVETVPELQSKVRDPRANFDQSLRVLKHAKKVQPDVISKTSIMLGLGENDEQVYATMKALREADVDCLTLGQYMQPTRRHLKVEEYITPEKFKYWEKVGNELGFHYTASGPLVRSSYKAGEFFLKNLVAKRKTKDL", "length": 269, "header": "tr|A0A1X7SBR7-1|LIAS_HUMAN Computationally mapped isoform of Lipoyl synthase, mitochondrial OS=Homo sapiens OX=9606 GN=LIAS PE=1 SV=1 CANONICAL=O43766-1" }, "locus": { "chromosome": "4", "start_pos": 39477112, "end_pos": 39459118, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000261434.8", "url": "https://www.ensembl.org/id/ENST00000261434.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000261434.4", "url": "https://www.ensembl.org/id/ENSP00000261434.4" } ] } }, { "isoform_ac": "B4E0L7-1", "url": "", "sequence": { "sequence": "MSLRCGDAARTLGPRVFGRYFCSPVRPLSSLPDKKKELLQNGPDLQDFVSGDLADRSTWDEYKGNLKRQKGERYVRKLDVPILESVGEVENMPPPQPRSW", "length": 100, "header": "tr|B4E0L7-1|LIAS_HUMAN Computationally mapped isoform of Lipoyl synthase, mitochondrial OS=Homo sapiens OX=9606 GN=LIAS PE=1 SV=1 CANONICAL=O43766-1" }, "locus": { "chromosome": "4", "start_pos": 39463606, "end_pos": 39459118, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000509519.5", "url": "https://www.ensembl.org/id/ENST00000509519.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000492833.1", "url": "https://www.ensembl.org/id/ENSP00000492833.1" } ] } }, { "isoform_ac": "D6RCP8-1", "url": "", "sequence": { "sequence": "MSLRCGDAARTLGPRVFGRYFCSPVRPLSSLPDKKKELLQNGPDLQDFVSGDLADRSTWDEYKGNLKRQKGERNPKILVECLTPDFRGDLKAIEKVALSGLDVYAHNVETVPELQSKVRDPRANFDQSLRVLKHAKKVQPDVISKTSIMLGLGENDEQVYATMKALREADVDCLTLGQYMQPTRRHLKVEEYITPEKFKYWEKVGNELGFHYTASGPLVRSSYKAGEFFLKNLVAKRKTKDL", "length": 242, "header": "tr|D6RCP8-1|LIAS_HUMAN Computationally mapped isoform of Lipoyl synthase, mitochondrial OS=Homo sapiens OX=9606 GN=LIAS PE=1 SV=1 CANONICAL=O43766-1" }, "locus": { "chromosome": "4", "start_pos": 39477112, "end_pos": 39459118, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000513731.6", "url": "https://www.ensembl.org/id/ENST00000513731.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000425580.1", "url": "https://www.ensembl.org/id/ENSP00000425580.1" } ] } }, { "isoform_ac": "O43766-1", "url": "", "sequence": { "sequence": "MSLRCGDAARTLGPRVFGRYFCSPVRPLSSLPDKKKELLQNGPDLQDFVSGDLADRSTWDEYKGNLKRQKGERLRLPPWLKTEIPMGKNYNKLKNTLRNLNLHTVCEEARCPNIGECWGGGEYATATATIMLMGDTCTRGCRFCSVKTARNPPPLDASEPYNTAKAIAEWGLDYVVLTSVDRDDMPDGGAEHIAKTVSYLKERNPKILVECLTPDFRGDLKAIEKVALSGLDVYAHNVETVPELQSKVRDPRANFDQSLRVLKHAKKVQPDVISKTSIMLGLGENDEQVYATMKALREADVDCLTLGQYMQPTRRHLKVEEYITPEKFKYWEKVGNELGFHYTASGPLVRSSYKAGEFFLKNLVAKRKTKDL", "length": 372, "header": "sp|O43766-1|LIAS_HUMAN Isoform 1 of Lipoyl synthase, mitochondrial OS=Homo sapiens OX=9606 GN=LIAS PE=1 SV=3 CANONICAL=O43766-1" }, "locus": { "chromosome": "4", "start_pos": 39477112, "end_pos": 39459118, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000640888.2", "url": "https://www.ensembl.org/id/ENST00000640888.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000492260.1", "url": "https://www.ensembl.org/id/ENSP00000492260.1" } ] } }, { "isoform_ac": "O43766-2", "url": "", "sequence": { "sequence": "MSLRCGDAARTLGPRVFGRYFCSPVRPLSSLPDKKKELLQNGPDLQDFVSGDLADRSTWDEYKGNLKRQKGERLRLPPWLKTEIPMGKNYNKLKNTLRNLNLHTVCEEARCPNIGECWGGGEYATATATIMLMGDTCTRGCRFCSVKTARNPPPLDASEPYNTAKAIAEWGLDYVVLTSVDRDDMPDGGAEHIAKTVSYLKERNPKILVECLTPDFRGDLKAIEKVALSGLDVYAHNVETVPELQSKVRDPRANFDQSLRVLKHAKKVQPDVISKTSIMLGLGENDEQVYATMKALREADVDCLTLGQYMQPTRRHLKVNFS", "length": 322, "header": "sp|O43766-2|LIAS_HUMAN Isoform 2 of Lipoyl synthase, mitochondrial OS=Homo sapiens OX=9606 GN=LIAS PE=1 SV=3 CANONICAL=O43766-1" }, "locus": { "chromosome": "4", "start_pos": 39477074, "end_pos": 39459118, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000340169.7", "url": "https://www.ensembl.org/id/ENST00000340169.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000340676.2", "url": "https://www.ensembl.org/id/ENSP00000340676.2" } ] } }, { "isoform_ac": "O43766-3", "url": "", "sequence": { "sequence": "MSLRCGDAARTLGPRVFGRYFCSPVRPLSSLPDKKKELLQNGPDLQDFVSGDLADRSTWDEYKGNLKRQKGERLRLPPWLKTEIPMGKNYNKLKNTLRNLNLHTVCEEARCPNIGECWGGGEYATATATIMLMGDTCTRGCRFCSVKTARNPPPLDASEPYNTAKAIAEWGLDYVVLTSVDRDDMPDGGAEHIAKTVSYLKESKVRDPRANFDQSLRVLKHAKKVQPDVISKTSIMLGLGENDEQVYATMKALREADVDCLTLGQYMQPTRRHLKVEEYITPEKFKYWEKVGNELGFHYTASGPLVRSSYKAGEFFLKNLVAKRKTKDL", "length": 329, "header": "sp|O43766-3|LIAS_HUMAN Isoform 3 of Lipoyl synthase, mitochondrial OS=Homo sapiens OX=9606 GN=LIAS PE=1 SV=3 CANONICAL=O43766-1" }, "locus": { "chromosome": "4", "start_pos": 39477112, "end_pos": 39459118, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000381846.2", "url": "https://www.ensembl.org/id/ENST00000381846.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000371270.1", "url": "https://www.ensembl.org/id/ENSP00000371270.1" } ] } }, { "isoform_ac": "Q6P5Q6-1", "url": "", "sequence": { "sequence": "MSLRCGDAARTLGPRVFGRYFCSPVRPLSSLPDKKKELLQNGPDLQDFVSGDLADRSTWDEYKGNLKRQKGERLRLPPWLKTEIPMGKNYNKLKNTLRNLNLHTVCEEARCPNIGECWGGGEYATATATIMVGPASTSMALV", "length": 142, "header": "tr|Q6P5Q6-1|LIAS_HUMAN Computationally mapped isoform of Lipoyl synthase, mitochondrial OS=Homo sapiens OX=9606 GN=LIAS PE=1 SV=1 CANONICAL=O43766-1" }, "locus": { "chromosome": "4", "start_pos": 39463638, "end_pos": 39459118, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000424936.6", "url": "https://www.ensembl.org/id/ENST00000424936.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000491086.1", "url": "https://www.ensembl.org/id/ENSP00000491086.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Molecular cloning, structural characterization and chromosomal localization of human lipoyltransferase gene.", "journal": "European journal of biochemistry", "date": "1999", "authors": "Fujiwara K, Suzuki M, Okumachi Y, Okamura-Ikeda K, Fujiwara T, Takahashi E, Motokawa Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "10103005", "url": "https://glygen.org/publication/PubMed/10103005" } ] }, { "title": "The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II.", "journal": "Human molecular genetics", "date": "1999", "authors": "Cramer SD, Ferree PM, Lin K, Milliner DS, Holmes RP", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "10484776", "url": "https://glygen.org/publication/PubMed/10484776" } ] }, { "title": "Identification and expression of a cDNA for human hydroxypyruvate/glyoxylate reductase.", "journal": "Biochimica et biophysica acta", "date": "1999", "authors": "Rumsby G, Cregeen DP", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "10524214", "url": "https://glygen.org/publication/PubMed/10524214" } ] }, { "title": "Identification and characterization of HAOX1, HAOX2, and HAOX3, three human peroxisomal 2-hydroxy acid oxidases.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Jones JM, Morrell JC, Gould SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "10777549", "url": "https://glygen.org/publication/PubMed/10777549" } ] }, { "title": "Identification and expression of a cDNA for human glycolate oxidase.", "journal": "Biochimica et biophysica acta", "date": "2000", "authors": "Williams E, Cregeen D, Rumsby G", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "10978532", "url": "https://glygen.org/publication/PubMed/10978532" } ] }, { "title": "Characterization of 16 novel human genes showing high similarity to yeast sequences.", "journal": "Yeast", "date": "2001", "authors": "Stanchi F, Bertocco E, Toppo S, Dioguardi R, Simionati B, Cannata N, Zimbello R, Lanfranchi G, Valle G", "evidence": [ { "database": "UniProtKB", "id": "O43766", "url": "https://www.uniprot.org/uniprot/O43766" } ], "reference": [ { "type": "PubMed", "id": "11124703", "url": "https://glygen.org/publication/PubMed/11124703" } ] }, { "title": "Do mammalian cells synthesize lipoic acid? Identification of a mouse cDNA encoding a lipoic acid synthase located in mitochondria.", "journal": "FEBS letters", "date": "2001", "authors": "Morikawa T, Yasuno R, Wada H", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "11389890", "url": "https://glygen.org/publication/PubMed/11389890" } ] }, { "title": "Proteomic analysis of the mouse liver mitochondrial inner membrane.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Da Cruz S, Xenarios I, Langridge J, Vilbois F, Parone PA, Martinou JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "12865426", "url": "https://glygen.org/publication/PubMed/12865426" } ] }, { "title": "Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1.", "journal": "Journal of molecular biology", "date": "2003", "authors": "Zhang X, Roe SM, Hou Y, Bartlam M, Rao Z, Pearl LH, Danpure CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "12899834", "url": "https://glygen.org/publication/PubMed/12899834" } ] }, { "title": "Hydroxyproline metabolism. II. Enzymatic preparation and properties of Delta 1-pyrroline-3-hydroxy-5-carboxylic acid.", "journal": "The Journal of biological chemistry", "date": "1960", "authors": "ADAMS E, GOLDSTONE A", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "13681368", "url": "https://glygen.org/publication/PubMed/13681368" } ] }, { "title": "Hydroxyproline metabolism. IV. Enzymatic synthesis of gamma-hydroxyglutamate from Delta 1-pyrroline-3-hydroxy-5-carboxylate.", "journal": "The Journal of biological chemistry", "date": "1960", "authors": "ADAMS E, GOLDSTONE A", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "13681370", "url": "https://glygen.org/publication/PubMed/13681370" } ] }, { "title": "PURIFICATION OF RAT-LIVER GAMMA-HYDROXYGLUTAMATE TRANSAMINASE AND ITS PROBABLE IDENTITY WITH GLUTAMATE-ASPARTATE TRANSAMINASE.", "journal": "Biochimica et biophysica acta", "date": "1964", "authors": "MAITRA U, DEEKKER E", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "14170323", "url": "https://glygen.org/publication/PubMed/14170323" } ] }, { "title": "PURIFICATION AND PROPERTIES OF RAT LIVER 2-KETO-4-HYDROXYGLUTARATE ALDOLASE.", "journal": "The Journal of biological chemistry", "date": "1964", "authors": "MAITRA U, DEKKER EE", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "14193832", "url": "https://glygen.org/publication/PubMed/14193832" } ] }, { "title": "Glycine N-methyltransferases: a comparison of the crystal structures and kinetic properties of recombinant human, mouse and rat enzymes.", "journal": "Proteins", "date": "2004", "authors": "Pakhomova S, Luka Z, Grohmann S, Wagner C, Newcomer ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "15340920", "url": "https://glygen.org/publication/PubMed/15340920" } ] }, { "title": "Overexpression of human alanine:glyoxylate aminotransferase in Escherichia coli: renaturation from guanidine-HCl and affinity for pyridoxal phosphate co-factor.", "journal": "Protein expression and purification", "date": "2005", "authors": "Coulter-Mackie MB, Lian Q, Wong SG", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "15802217", "url": "https://glygen.org/publication/PubMed/15802217" } ] }, { "title": "The primary structure of the flavoprotein D-aspartate oxidase from beef kidney.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Negri A, Ceciliani F, Tedeschi G, Simonic T, Ronchi S", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "1601857", "url": "https://glygen.org/publication/PubMed/1601857" } ] }, { "title": "Characterization of human D-amino acid oxidase.", "journal": "FEBS letters", "date": "2006", "authors": "Molla G, Sacchi S, Bernasconi M, Pilone MS, Fukui K, Polegioni L", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "16616139", "url": "https://glygen.org/publication/PubMed/16616139" } ] }, { "title": "Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1.", "journal": "The Journal of cell biology", "date": "1990", "authors": "Purdue PE, Takada Y, Danpure CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "1703535", "url": "https://glygen.org/publication/PubMed/1703535" } ] }, { "title": "Crystal structure of human D-amino acid oxidase: context-dependent variability of the backbone conformation of the VAAGL hydrophobic stretch located at the si-face of the flavin ring.", "journal": "Protein science : a publication of the Protein Society", "date": "2006", "authors": "Kawazoe T, Tsuge H, Pilone MS, Fukui K", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "17088322", "url": "https://glygen.org/publication/PubMed/17088322" } ] }, { "title": "Purification and characterization of recombinant human liver glycolate oxidase.", "journal": "Archives of biochemistry and biophysics", "date": "2007", "authors": "Vignaud C, Pietrancosta N, Williams EL, Rumsby G, Lederer F", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "17669354", "url": "https://glygen.org/publication/PubMed/17669354" } ] }, { "title": "Active site and loop 4 movements within human glycolate oxidase: implications for substrate specificity and drug design.", "journal": "Biochemistry", "date": "2008", "authors": "Murray MS, Holmes RP, Lowther WT", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "18215067", "url": "https://glygen.org/publication/PubMed/18215067" } ] }, { "title": "Lipoic acid synthase (LASY): a novel role in inflammation, mitochondrial function, and insulin resistance.", "journal": "Diabetes", "date": "2009", "authors": "Padmalayam I, Hasham S, Saxena U, Pillarisetti S", "evidence": [ { "database": "RefSeq", "id": "NP_001265519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265519" } ], "reference": [ { "type": "PubMed", "id": "19074983", "url": "https://glygen.org/publication/PubMed/19074983" } ] }, { "title": "Pxmp2 is a channel-forming protein in Mammalian peroxisomal membrane.", "journal": "PloS one", "date": "2009", "authors": "Rokka A, Antonenkov VD, Soininen R, Immonen HL, Pirila PL, Bergmann U, Sormunen RT, Weckstrom M, Benz R, Hiltunen JK", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "19352492", "url": "https://glygen.org/publication/PubMed/19352492" } ] }, { "title": "Lipoic acid synthesis and attachment in yeast mitochondria.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Schonauer MS, Kastaniotis AJ, Kursu VA, Hiltunen JK, Dieckmann CL", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "19570983", "url": "https://glygen.org/publication/PubMed/19570983" } ] }, { "title": "Human alanine-glyoxylate aminotransferase 2 lowers asymmetric dimethylarginine and protects from inhibition of nitric oxide production.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Rodionov RN, Murry DJ, Vaulman SF, Stevens JW, Lentz SR", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "20018850", "url": "https://glygen.org/publication/PubMed/20018850" } ] }, { "title": "Thiolactomycin inhibits D-aspartate oxidase: a novel approach to probing the active site environment.", "journal": "Biochimie", "date": "2010", "authors": "Katane M, Saitoh Y, Hanai T, Sekine M, Furuchi T, Koyama N, Nakagome I, Tomoda H, Hirono S, Homma H", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "20603179", "url": "https://glygen.org/publication/PubMed/20603179" } ] }, { "title": "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.", "journal": "PloS one", "date": "2010", "authors": "Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ", "evidence": [ { "database": "RefSeq", "id": "NP_001265519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265519" } ], "reference": [ { "type": "PubMed", "id": "20877624", "url": "https://glygen.org/publication/PubMed/20877624" } ] }, { "title": "Purification, characterization and inhibition of D-3-aminoisobutyrate aminotransferase from the rat liver.", "journal": "European journal of biochemistry", "date": "1990", "authors": "Tamaki N, Kaneko M, Mizota C, Kikugawa M, Fujimoto S", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "2158891", "url": "https://glygen.org/publication/PubMed/2158891" } ] }, { "title": "Structural and biochemical studies of human 4-hydroxy-2-oxoglutarate aldolase: implications for hydroxyproline metabolism in primary hyperoxaluria.", "journal": "PloS one", "date": "2011", "authors": "Riedel TJ, Johnson LC, Knight J, Hantgan RR, Holmes RP, Lowther WT", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "21998747", "url": "https://glygen.org/publication/PubMed/21998747" } ] }, { "title": "Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.", "journal": "American journal of human genetics", "date": "2011", "authors": "Mayr JA, Zimmermann FA, Fauth C, Bergheim C, Meierhofer D, Radmayr D, Zschocke J, Koch J, Sperl W", "evidence": [ { "database": "UniProtKB", "id": "O43766", "url": "https://www.uniprot.org/uniprot/O43766" }, { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" }, { "database": 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Evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon.", "journal": "The Biochemical journal", "date": "1990", "authors": "Takada Y, Kaneko N, Esumi H, Purdue PE, Danpure CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "2363689", "url": "https://glygen.org/publication/PubMed/2363689" } ] }, { "title": "Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.", "journal": "Human molecular genetics", "date": "2014", "authors": "Tort F, Ferrer-Cortes X, Thio M, Navarro-Sastre A, Matalonga L, Quintana E, Bujan N, Arias A, Garcia-Villoria J, Acquaviva C, Vianey-Saban C, Artuch R, Garcia-Cazorla A, Briones P, Ribes A", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": 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primary hyperoxaluria.", "journal": "The Biochemical journal", "date": "2015", "authors": "Summitt CB, Johnson LC, Jonsson TJ, Parsonage D, Holmes RP, Lowther WT", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "25697095", "url": "https://glygen.org/publication/PubMed/25697095" } ] }, { "title": "Characterization of the enzymatic and structural properties of human D-aspartate oxidase and comparison with those of the rat and mouse enzymes.", "journal": "Biological & pharmaceutical bulletin", "date": "2015", "authors": "Katane M, Kawata T, Nakayama K, Saitoh Y, Kaneko Y, Matsuda S, Saitoh Y, Miyamoto T, Sekine M, Homma H", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "25747990", "url": "https://glygen.org/publication/PubMed/25747990" } ] }, { "title": "Novel compound heterozygous LIAS mutations cause glycine encephalopathy.", "journal": "Journal of human genetics", "date": "2015", "authors": "Tsurusaki Y, Tanaka R, Shimada S, Shimojima K, Shiina M, Nakashima M, Saitsu H, Miyake N, Ogata K, Yamamoto T, Matsumoto N", "evidence": [ { "database": "RefSeq", "id": "NP_001265519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265519" } ], "reference": [ { "type": "PubMed", "id": "26108146", "url": "https://glygen.org/publication/PubMed/26108146" } ] }, { "title": "Metabolic Interplay between Peroxisomes and Other Subcellular Organelles Including Mitochondria and the Endoplasmic Reticulum.", "journal": "Frontiers in cell and developmental biology", "date": "2015", "authors": "Wanders RJ, Waterham HR, Ferdinandusse S", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "26858947", "url": "https://glygen.org/publication/PubMed/26858947" } ] }, { "title": "Homology modeling of Homo sapiens lipoic acid synthase: Substrate docking and insights on its binding mode.", "journal": "Journal of theoretical biology", "date": "2017", "authors": "Krishnamoorthy E, Hassan S, Hanna LE, Padmalayam I, Rajaram R, Viswanathan V", "evidence": [ { "database": "RefSeq", "id": "NP_001265519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265519" } ], "reference": [ { "type": "PubMed", "id": "27717843", "url": "https://glygen.org/publication/PubMed/27717843" } ] }, { "title": "Mitochondrial Protein Lipoylation and the 2-Oxoglutarate Dehydrogenase Complex Controls HIF1alpha Stability in Aerobic Conditions.", "journal": "Cell metabolism", "date": "2016", "authors": "Burr SP, Costa AS, Grice GL, Timms RT, Lobb IT, Freisinger P, Dodd RB, Dougan G, Lehner PJ, Frezza C, Nathan JA", "evidence": [ { "database": "RefSeq", "id": "NP_001265519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265519" } ], "reference": [ { "type": "PubMed", "id": "27923773", "url": "https://glygen.org/publication/PubMed/27923773" } ] }, { "title": "Characterization and Reconstitution of Human Lipoyl Synthase (LIAS) Supports ISCA2 and ISCU as Primary Cluster Donors and an Ordered Mechanism of Cluster Assembly.", "journal": "International journal of molecular sciences", "date": "2021", "authors": "Hendricks AL, Wachnowsky C, Fries B, Fidai I, Cowan JA", "evidence": [ { "database": "RefSeq", "id": "NP_001265519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265519" } ], "reference": [ { "type": "PubMed", "id": "33562493", "url": "https://glygen.org/publication/PubMed/33562493" } ] }, { "title": "Further studies on the activity and subcellular distribution of alanine:glyoxylate aminotransferase in the livers of patients with primary hyperoxaluria type 1.", "journal": "Clinical science (London, England : 1979)", "date": "1988", "authors": "Danpure 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investigation", "date": "1979", "authors": "Valle D, Goodman SI, Harris SC, Phang JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "500817", "url": "https://glygen.org/publication/PubMed/500817" } ] }, { "title": "Metabolism of proline and the hydroxyprolines.", "journal": "Annual review of biochemistry", "date": "1980", "authors": "Adams E, Frank L", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "6250440", "url": "https://glygen.org/publication/PubMed/6250440" } ] }, { "title": "Structural and functional characterization of the human brain D-aspartate oxidase.", "journal": "Journal of biochemistry", "date": "1997", "authors": "Setoyama C, Miura R", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": 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"resource": "Reactome", "description": "Glyoxylate metabolism and glycine degradation" } ], "orthologs": [ { "uniprot_canonical_ac": "P32875-1", "protein_name": "Lipoyl synthase, mitochondrial", "gene_name": "LIP5", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MYRRSVGVLFVGRNTRWISSTIRCGTSATRPIRSNALNTDSDNASVRVPVGNSTEVENATSQLTGTSGKRRKGNRKRITEFKDALNLGPSFADFVSGKASKMILDPLEKARQNTEEAKKLPRWLKVPIPKGTNYHKLKGDVKELGLSTVCEEARCPNIGECWGGKDKSKATATIMLLGDTCTRGCRFCSVKTNRTPSKPDPMEPENTAEAIKRWGLGYVVLTTVDRDDLVDGGANHLAETVRKIKQKAPNTLVETLSGDFRGDLKMVDIMAQCGLDVYAHNLETVESLTPHVRDRRATYRQSLSVLERAKATVPSLITKTSIMLGLGETDEQITQTLKDLRNIQCDVVTFGQYMRPTKRHMKVVEYVKPEKFDYWKERALEMGFLYCASGPLVRSSYKAGEAFIENVLKKRNMK", "length": 414 }, "evidence": [ { "id": "O43766", "url": "https://omabrowser.org/oma/group/O43766/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q5XIH4-1", "protein_name": "Lipoyl synthase, mitochondrial", "gene_name": "Lias", "tax_id": 10116, 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"MLRALKTHAEAPIVVATRAASTNAEKLEEIRERLAKGPNFHDFVQNPDNTRNEWEQYDGKLRREKGEEQRLRLPPWLKTTIPVGKNYAKIKAQMRELKLSTVCEEARCPNIGECWGGGEHGTQTATIMLMGDTCTRGCRFCSVKTARKPPPLDVNEPVNTATAIASWGLDYIVLTSVDRDDLPDGGSEHIAETVREIKARNSNIFVECLVPDFRGNLECVKTIANSGLDVYAHNIETVEKLTPYVRDRRAHYRQTLQVLTEAKRFNPNLITKSSIMLGLGETDEEIENTLKDLREAGVDCVTLGQYMQPTNKHLKVIEYVTPEKFKHWEERGNELGFLYTASGPLVRSSYKAGEFFITSILENRKKRQNDTEVPKKQ", "length": 377 }, "evidence": [ { "id": "O43766", "url": "https://omabrowser.org/oma/group/O43766/", "database": "OMA" } ], "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "Q99M04-1", "protein_name": "Lipoyl synthase, mitochondrial", "gene_name": "Lias", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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"id": "GO:0051539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051539", "evidence": [ { "database": "UniProtKB", "id": "O43766", "url": "https://www.uniprot.org/uniprot/O43766" } ], "pmid": "" }, { "name": "lipoate synthase activity", "id": "GO:0016992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016992", "evidence": [ { "database": "UniProtKB", "id": "O43766", "url": "https://www.uniprot.org/uniprot/O43766" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O43766", "url": "https://www.uniprot.org/uniprot/O43766" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "O43766", "url": "https://www.uniprot.org/uniprot/O43766" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "O43766", "url": "https://www.uniprot.org/uniprot/O43766" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "O43766", "url": "https://www.uniprot.org/uniprot/O43766" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "O43766", "url": "https://www.uniprot.org/uniprot/O43766" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "O43766", "url": "https://www.uniprot.org/uniprot/O43766" } ], "pmid": "" }, { "name": "lipoate biosynthetic process", "id": "GO:0009107", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009107", "evidence": [ { "database": "UniProtKB", "id": "O43766", "url": "https://www.uniprot.org/uniprot/O43766" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "16585", "name": "", "equation": "[[Fe-S] cluster scaffold protein carrying a second [4Fe-4S](2+) cluster] + 4 H(+) + N(6)-octanoyl-L-lysyl-[protein] + 2 oxidized [2Fe-2S]-[ferredoxin] + 2 S-adenosyl-L-methionine = 2 5'-deoxyadenosine + [[Fe-S] cluster scaffold protein] + 4 Fe(3+) + 2 hydrogen sulfide + 2 L-methionine + N(6)-[(R)-dihydrolipoyl]-L-lysyl-[protein] + 2 reduced [2Fe-2S]-[ferredoxin]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5XIH4-1", "O43766-1", "Q99M04-1", "P32875-1", "Q7JQW6-1" ], "evidence": [ { "id": "16585", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/16585" } ] }, { "id": "R-HSA-6793591", "name": "LIAS:2(4Fe-4S) transforms octanoyl-K107-GCSH to lipoyl-K107-GCSH", "equation": "", "summary": "Lipoate is an essential cofactor for five redox reactions; four in oxoacid dehydrogenases (active in energy metabolism and amino acid metabolism) and one in the glycine cleavage system (GCS). Lipoate synthesis in mitochondria requires three steps. In the second step, mitochondrial lipoyl synthase (LIAS) mediates the radical-mediated insertion of two sulfur atoms into the C-6 and C-8 positions of the octanoyl moiety bound to glycine cleavage system H protein (GCSH), transforming the octanoyl moiety to a lipoyl moiety. LIAS requires two 4Fe-4S clusters as cofactor which act as the sulfur donors in the reaction (Morikawa et al. 2001). Defects in LIAS causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation (Mayr et al. 2011).", "cellular_location": "mitochondrial matrix", "input_participant_list": [ "R-ALL-6793610", "R-HSA-6793586" ], "output_participant_list": [ "R-ALL-6793613" ], "enzyme_list": [ "O43766-1" ], "evidence": [ { "id": "R-HSA-6793591", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6793591" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-6793610", "participant_name": "S [mitochondrial matrix]", "crossref": [ { "id": "26833", "database": "ChEBI", "url": "" }, { "id": "26833", "database": "ChEBI", "url": "" }, { "id": "26833", "database": "ChEBI", "url": "" }, { "id": "26833", "database": "ChEBI", "url": "" }, { "id": "26833", "database": "ChEBI", "url": "" }, { "id": "26833", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-ALL-6793613", "participant_name": "5dAde [mitochondrial matrix]", "crossref": [ { "id": "17319", "database": "ChEBI", "url": "" }, { "id": "C05198", "database": "COMPOUND", "url": "" }, { "id": "HMDB0001983", "database": "HMDB Metabolite", "url": "" }, { "id": "000001999286", "database": "ZINC", "url": "" }, { "id": "C05198", "database": "COMPOUND", "url": "" }, { "id": "000001999286", "database": "ZINC", "url": "" }, { "id": "HMDB0001983", "database": "HMDB Metabolite", "url": "" }, { "id": "17319", "database": "ChEBI", "url": "" }, { "id": "17319", "database": "ChEBI", "url": "" }, { "id": "C05198", "database": "COMPOUND", "url": "" }, { "id": "HMDB0001983", "database": "HMDB Metabolite", "url": "" }, { "id": "000001999286", "database": "ZINC", "url": "" }, { "id": "HMDB0001983", "database": "HMDB Metabolite", "url": "" }, { "id": "17319", "database": "ChEBI", "url": "" }, { "id": "000001999286", "database": "ZINC", "url": "" }, { "id": "C05198", "database": "COMPOUND", "url": "" }, { "id": "17319", "database": "ChEBI", "url": "" }, { "id": "C05198", "database": "COMPOUND", "url": "" }, { "id": "HMDB0001983", "database": "HMDB Metabolite", "url": "" }, { "id": "000001999286", "database": "ZINC", "url": "" }, { "id": "17319", "database": "ChEBI", "url": "" }, { "id": "C05198", "database": "COMPOUND", "url": "" }, { "id": "HMDB0001983", "database": "HMDB Metabolite", "url": "" }, { "id": "000001999286", "database": "ZINC", "url": "" } ] }, { "participant_id": "R-HSA-6793586", "participant_name": "octanoyl-K107-GCSH [mitochondrial matrix]", "crossref": [ { "id": "P23434", "database": "UniProt", "url": "" }, { "id": "HMDBP03058", "database": "HMDB Protein", "url": "" }, { "id": "NP_004474.2", "database": "RefSeq", "url": "" }, { "id": "P23434", "database": "Pharos - Targets", "url": "" }, { "id": "ENSG00000140905-GCSH", "database": "HPA", "url": "" }, { "id": "ENSG00000140905", "database": "OpenTargets", "url": "" }, { "id": "P23434", "database": "PRO", "url": "" }, { "id": "16112", "database": "Orphanet", "url": "" }, { "id": "ENST00000315467", "database": "Ensembl", "url": "" }, { "id": "ENSG00000140905", "database": "Ensembl", "url": "" }, { "id": "P23434", "database": "GeneCards", "url": "" }, { "id": "3098", "database": "Guide to Pharmacology - Targets", "url": "" }, { "id": "ENSP00000319531", "database": "Ensembl", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O43766", "gene_name": "LIAS", "activity": [ { "ec_number": "2.8.1.8", "activity": "[[Fe-S] cluster scaffold protein carrying a second [4Fe-4S](2+) cluster] + 4 H(+) + N(6)-octanoyl-L-lysyl-[protein] + 2 oxidized [2Fe-2S]-[ferredoxin] + 2 S-adenosyl-L-methionine = 2 5'-deoxyadenosine + [[Fe-S] cluster scaffold protein] + 4 Fe(3+) + 2 hydrogen sulfide + 2 L-methionine + N(6)-[(R)-dihydrolipoyl]-L-lysyl-[protein] + 2 reduced [2Fe-2S]-[ferredoxin].", "evidence": [ { "id": "O43766", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43766" } ] }, { "ec_number": "2.8.1.8", "activity": "", "evidence": [ { "id": "O43766", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43766" } ] } ] }, { "uniprot_ac": "P32875", "gene_name": "LIP5", "activity": [ { "ec_number": "2.8.1.8", "activity": "[[Fe-S] cluster scaffold protein carrying a second [4Fe-4S](2+) cluster] + 4 H(+) + N(6)-octanoyl-L-lysyl-[protein] + 2 oxidized [2Fe-2S]-[ferredoxin] + 2 S-adenosyl-L-methionine = 2 5'-deoxyadenosine + [[Fe-S] cluster scaffold protein] + 4 Fe(3+) + 2 hydrogen sulfide + 2 L-methionine + N(6)-[(R)-dihydrolipoyl]-L-lysyl-[protein] + 2 reduced [2Fe-2S]-[ferredoxin].", "evidence": [ { "id": "P32875", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32875" } ] }, { "ec_number": "2.8.1.8", "activity": "", "evidence": [ { "id": "P32875", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32875" } ] } ] }, { "uniprot_ac": "Q5XIH4", "gene_name": "Lias", "activity": [ { "ec_number": "2.8.1.8", "activity": "[[Fe-S] cluster scaffold protein carrying a second [4Fe-4S](2+) cluster] + 4 H(+) + N(6)-octanoyl-L-lysyl-[protein] + 2 oxidized [2Fe-2S]-[ferredoxin] + 2 S-adenosyl-L-methionine = 2 5'-deoxyadenosine + [[Fe-S] cluster scaffold protein] + 4 Fe(3+) + 2 hydrogen sulfide + 2 L-methionine + N(6)-[(R)-dihydrolipoyl]-L-lysyl-[protein] + 2 reduced [2Fe-2S]-[ferredoxin].", "evidence": [ { "id": "Q5XIH4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5XIH4" } ] }, { "ec_number": "2.8.1.8", "activity": "", "evidence": [ { "id": "Q5XIH4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5XIH4" } ] } ] }, { "uniprot_ac": "Q7JQW6", "gene_name": "Las", "activity": [ { "ec_number": "2.8.1.8", "activity": "[[Fe-S] cluster scaffold protein carrying a second [4Fe-4S](2+) cluster] + 4 H(+) + N(6)-octanoyl-L-lysyl-[protein] + 2 oxidized [2Fe-2S]-[ferredoxin] + 2 S-adenosyl-L-methionine = 2 5'-deoxyadenosine + [[Fe-S] cluster scaffold protein] + 4 Fe(3+) + 2 hydrogen sulfide + 2 L-methionine + N(6)-[(R)-dihydrolipoyl]-L-lysyl-[protein] + 2 reduced [2Fe-2S]-[ferredoxin].", "evidence": [ { "id": "Q7JQW6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7JQW6" } ] }, { "ec_number": "2.8.1.8", "activity": "", "evidence": [ { "id": "Q7JQW6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7JQW6" } ] } ] }, { "uniprot_ac": "Q99M04", "gene_name": "Lias", "activity": [ { "ec_number": "2.8.1.8", "activity": "[[Fe-S] cluster scaffold protein carrying a second [4Fe-4S](2+) cluster] + 4 H(+) + N(6)-octanoyl-L-lysyl-[protein] + 2 oxidized [2Fe-2S]-[ferredoxin] + 2 S-adenosyl-L-methionine = 2 5'-deoxyadenosine + [[Fe-S] cluster scaffold protein] + 4 Fe(3+) + 2 hydrogen sulfide + 2 L-methionine + N(6)-[(R)-dihydrolipoyl]-L-lysyl-[protein] + 2 reduced [2Fe-2S]-[ferredoxin].", "evidence": [ { "id": "Q99M04", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99M04" } ] }, { "ec_number": "2.8.1.8", "activity": "", "evidence": [ { "id": "Q99M04", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99M04" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 47 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }