{
"uniprot_canonical_ac": "P11182-1",
"uniprot_ac": "P11182",
"uniprot_id": "ODB2_HUMAN",
"mass": {
"chemical_mass": 53487.0,
"monoisotopic_mass": 53487.0
},
"refseq": {
"ac": "NP_001909",
"name": "lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 1 precursor",
"summary": "The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001909"
},
"gene_names": [
{
"name": "DBT",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/P11182",
"id": "P11182"
},
{
"name": "BCATE2; BCKAD-E2; BCKADE2; BCKDH-E2; BCOADC-E2; E2; E2B",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001909",
"id": "NP_001909"
},
{
"name": "BCATE2",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P11182",
"id": "P11182"
},
{
"name": "BCKDHE2",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P11182",
"id": "P11182"
},
{
"name": "DBT",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001909",
"id": "NP_001909"
}
],
"protein_names": [
{
"name": "Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "P11182"
},
{
"name": "2.3.1.168",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P11182"
},
{
"name": "52 kDa mitochondrial autoantigen of primary biliary cirrhosis",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P11182"
},
{
"name": "BCKAD-E2",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P11182"
},
{
"name": "BCKADE2",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P11182"
},
{
"name": "BCKDH-E2",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P11182"
},
{
"name": "BCOADC-E2",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P11182"
},
{
"name": "Branched chain 2-oxo-acid dehydrogenase complex component E2",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P11182"
},
{
"name": "Branched-chain alpha-keto acid dehydrogenase complex component E2",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P11182"
},
{
"name": "Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P11182"
},
{
"name": "Dihydrolipoamide branched chain transacylase",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P11182"
},
{
"name": "Dihydrolipoyllysine-residue (2-methylpropanoyl)transferase",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P11182"
},
{
"name": "branched chain acyltransferase, E2 component; dihydrolipoyl transacylase; dihydrolipoyllysine-residue (2-methylpropanoyl)transferase; lipoamide acyltransferase component of mitochondrial branched-chain alpha-keto acid dehydrogenase complex; BCKAD E2 subunit; mitochondrial branched chain alpha-keto acid dehydrogenase transacylase subunit (E2b); E2 component of branched chain alpha-keto acid dehydrogenase complex; branched chain 2-oxo-acid dehydrogenase complex component E2; 52 kDa mitochondrial autoantigen of primary biliary cirrhosis; lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial; branched-chain alpha-keto acid dehydrogenase complex component E2; dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001909",
"id": "NP_001909"
},
{
"name": "lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 1 precursor",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001909",
"id": "NP_001909"
}
],
"function": [
{
"annotation": "Overexpression of DBT suppresses the aggressiveness of renal clear cell carcinoma and correlates with immune infiltration. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001909",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001909"
},
{
"database": "PubMed",
"id": "37383233",
"url": "https://glygen.org/publication/PubMed/37383233"
}
]
},
{
"annotation": "Pathogenic Homozygous Mutations in the DBT Gene (c.1174A>C) Result in Maple Syrup Urine Disease in a rs12021720 Carrier.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001909",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001909"
},
{
"database": "PubMed",
"id": "35657820",
"url": "https://glygen.org/publication/PubMed/35657820"
}
]
},
{
"annotation": "The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001909",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001909"
}
]
},
{
"annotation": "The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). Within this complex, the catalytic function of this enzyme is to accept, and to transfer to coenzyme A, acyl groups that are generated by the branched-chain alpha-keto acid decarboxylase component.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11182",
"url": "https://www.uniprot.org/uniprot/P11182#function"
},
{
"database": "UniProtKB",
"id": "P11181",
"url": "https://www.uniprot.org/uniprot/P11181#function"
}
]
},
{
"annotation": "The novel DBT mutation c.650-651insT was more prevalent than the deleted 4.7-kb heterozygote in the Amis population. The reported 4.7-kb deletion indicating a possible founder mutation may be preserved.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001909",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001909"
},
{
"database": "PubMed",
"id": "24268812",
"url": "https://glygen.org/publication/PubMed/24268812"
}
]
},
{
"annotation": "Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001909",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001909"
},
{
"database": "PubMed",
"id": "34883003",
"url": "https://glygen.org/publication/PubMed/34883003"
}
]
}
],
"disease": [
{
"disease_id": "DOID:9269",
"recommended_name": {
"id": "DOID:9269",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9269",
"name": "maple syrup urine disease",
"description": "An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures."
},
"synonyms": [
{
"id": "DOID:9269",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9269",
"name": "Ketoacidaemia",
"description": ""
},
{
"id": "DOID:9269",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9269",
"name": "branched chain ketoaciduria",
"description": ""
},
{
"id": "MONDO:0009529",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009529",
"name": "pyruvate dehydrogenase E3 deficiency",
"description": "Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease."
},
{
"id": "MONDO:0009529",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009529",
"name": "DLD deficiency",
"description": ""
},
{
"id": "MONDO:0009529",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009529",
"name": "E3-deficient maple syrup urine disease",
"description": ""
},
{
"id": "MONDO:0009529",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009529",
"name": "dihydrolipoamide dehydrogenase deficiency",
"description": ""
},
{
"id": "MONDO:0009529",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009529",
"name": "pyruvate dehydrogenase E3 deficiency",
"description": ""
},
{
"id": "MONDO:0009529",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009529",
"name": "DLDD",
"description": ""
},
{
"id": "MONDO:0009529",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009529",
"name": "Dld deficiency",
"description": ""
},
{
"id": "MONDO:0009529",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009529",
"name": "E3 deficiency",
"description": ""
},
{
"id": "MONDO:0009529",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009529",
"name": "lipoamide dehydrogenase deficiency, lactic acidosis due to",
"description": ""
},
{
"id": "MONDO:0009529",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009529",
"name": "maple syrup urine disease, type 3",
"description": ""
},
{
"id": "MONDO:0009529",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009529",
"name": "maple syrup urine disease, type III",
"description": ""
},
{
"id": "MONDO:0009563",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009563",
"name": "maple syrup urine disease",
"description": "An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death."
},
{
"id": "MONDO:0009563",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009563",
"name": "BCKD deficiency",
"description": ""
},
{
"id": "MONDO:0009563",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009563",
"name": "BCKDH deficiency",
"description": ""
},
{
"id": "MONDO:0009563",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009563",
"name": "Ketoacidaemia",
"description": ""
},
{
"id": "MONDO:0009563",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009563",
"name": "MSUD",
"description": ""
},
{
"id": "MONDO:0009563",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009563",
"name": "branched chain ketoaciduria",
"description": ""
},
{
"id": "MONDO:0009563",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009563",
"name": "branched-chain 2-ketoacid dehydrogenase deficiency",
"description": ""
},
{
"id": "MONDO:0009563",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009563",
"name": "branched-chain ketoaciduria",
"description": ""
},
{
"id": "MONDO:0009563",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009563",
"name": "maple syrup urine disease",
"description": ""
},
{
"id": "MONDO:0009563",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009563",
"name": "maple syrup urine disease, type IA",
"description": ""
},
{
"id": "MONDO:0009563",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009563",
"name": "maple syrup urine disease, type IB",
"description": ""
},
{
"id": "MONDO:0009563",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009563",
"name": "maple syrup urine disease, type II",
"description": ""
},
{
"id": "MONDO:0009563",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009563",
"name": "maple syrup urine disease, type 1A",
"description": ""
},
{
"id": "MONDO:0009563",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009563",
"name": "maple syrup urine disease, type 1B",
"description": ""
},
{
"id": "MONDO:0009563",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009563",
"name": "maple syrup urine disease, type 2",
"description": ""
},
{
"id": "MONDO:0009563",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009563",
"name": "Keto acid decarboxylase deficiency",
"description": ""
},
{
"id": "MONDO:0009563",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009563",
"name": "branched-chain Alpha-Keto acid dehydrogenase deficiency",
"description": ""
},
{
"id": "MONDO:0009563",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009563",
"name": "dihydrolipoamide dehydrogenase deficiency",
"description": ""
},
{
"id": "MONDO:0009563",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009563",
"name": "maple syrup urine disease, Intermediate",
"description": ""
},
{
"id": "MONDO:0009563",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009563",
"name": "maple syrup urine disease, classic",
"description": ""
},
{
"id": "MONDO:0009563",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009563",
"name": "maple syrup urine disease, intermittent",
"description": ""
},
{
"id": "MONDO:0009563",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009563",
"name": "maple syrup urine disease, thiamine-responsive",
"description": ""
},
{
"id": "MONDO:0014057",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014057",
"name": "maple syrup urine disease, mild variant",
"description": ""
},
{
"id": "MONDO:0014057",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014057",
"name": "maple syrup urine disease, mild variant",
"description": ""
},
{
"id": "MONDO:0014057",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014057",
"name": "MSUDMV",
"description": ""
},
{
"id": "MIM:246900",
"resource": "MIM",
"url": "https://www.omim.org/entry/246900",
"name": "Dihydrolipoamide dehydrogenase deficiency",
"description": "Dihydrolipoamide dehydrogenase deficiency"
},
{
"id": "MIM:248600",
"resource": "MIM",
"url": "https://www.omim.org/entry/248600",
"name": "Maple syrup urine disease 2",
"description": "Maple syrup urine disease 2"
},
{
"id": "MIM:615135",
"resource": "MIM",
"url": "https://www.omim.org/entry/615135",
"name": "Maple syrup urine disease, mild variant",
"description": "Maple syrup urine disease, mild variant"
}
],
"evidence": [
{
"id": "248600",
"database": "MIM",
"url": "https://www.omim.org/entry/248600"
}
]
}
],
"snv": [],
"mutagenesis": [
{
"start_pos": 105,
"end_pos": 105,
"sequence_org": "K",
"sequence_mut": "A",
"comment": "Abolishes lipoylation but retains normal interaction with PPM1K.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11182",
"url": "https://www.uniprot.org/uniprot/P11182"
},
{
"database": "PubMed",
"id": "22291014",
"url": "https://glygen.org/publication/PubMed/22291014"
}
]
},
{
"start_pos": 147,
"end_pos": 147,
"sequence_org": "E",
"sequence_mut": "A",
"comment": "Has no effect on the interaction with PPM1K.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11182",
"url": "https://www.uniprot.org/uniprot/P11182"
},
{
"database": "PubMed",
"id": "22291014",
"url": "https://glygen.org/publication/PubMed/22291014"
}
]
},
{
"start_pos": 148,
"end_pos": 148,
"sequence_org": "E",
"sequence_mut": "A",
"comment": "Completely abolishes the interaction with PPM1K.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11182",
"url": "https://www.uniprot.org/uniprot/P11182"
},
{
"database": "PubMed",
"id": "22291014",
"url": "https://glygen.org/publication/PubMed/22291014"
}
]
},
{
"start_pos": 149,
"end_pos": 149,
"sequence_org": "D",
"sequence_mut": "A",
"comment": "Completely abolishes the interaction with PPM1K.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11182",
"url": "https://www.uniprot.org/uniprot/P11182"
},
{
"database": "PubMed",
"id": "22291014",
"url": "https://glygen.org/publication/PubMed/22291014"
}
]
},
{
"start_pos": 152,
"end_pos": 152,
"sequence_org": "E",
"sequence_mut": "A",
"comment": "Has no effect on the interaction with PPM1K.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11182",
"url": "https://www.uniprot.org/uniprot/P11182"
},
{
"database": "PubMed",
"id": "22291014",
"url": "https://glygen.org/publication/PubMed/22291014"
}
]
},
{
"start_pos": 159,
"end_pos": 159,
"sequence_org": "D",
"sequence_mut": "A",
"comment": "Has no effect on the interaction with PPM1K.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11182",
"url": "https://www.uniprot.org/uniprot/P11182"
},
{
"database": "PubMed",
"id": "22291014",
"url": "https://glygen.org/publication/PubMed/22291014"
}
]
}
],
"expression_tissue": [
{
"tissue": {
"name": "Adult mammalian kidney",
"namespace": "UBERON",
"id": "0000082",
"url": "http://purl.obolibrary.org/obo/UBERON_0000082"
},
"score": "88.9",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000137992",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000137992"
}
]
},
{
"tissue": {
"name": "Oral cavity",
"namespace": "UBERON",
"id": "0000167",
"url": "http://purl.obolibrary.org/obo/UBERON_0000167"
},
"score": "97.97",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000137992",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000137992"
}
]
},
{
"tissue": {
"name": "Stomach",
"namespace": "UBERON",
"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
},
"score": "86.89",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000137992",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000137992"
}
]
},
{
"tissue": {
"name": "Uterus",
"namespace": "UBERON",
"id": "0000995",
"url": "http://purl.obolibrary.org/obo/UBERON_0000995"
},
"score": "98.67",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000137992",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000137992"
}
]
},
{
"tissue": {
"name": "Esophagus",
"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
},
"score": "82.8",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000137992",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000137992"
}
]
},
{
"tissue": {
"name": "Rectum",
"namespace": "UBERON",
"id": "0001052",
"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
},
"score": "80.83",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000137992",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000137992"
}
]
},
{
"tissue": {
"name": "Colon",
"namespace": "UBERON",
"id": "0001155",
"url": "http://purl.obolibrary.org/obo/UBERON_0001155"
},
"score": "96.63",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000137992",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000137992"
}
]
},
{
"tissue": {
"name": "Urinary bladder",
"namespace": "UBERON",
"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
},
"score": "87.58",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000137992",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000137992"
}
]
},
{
"tissue": {
"name": "Thyroid gland",
"namespace": "UBERON",
"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "78.2",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000137992",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000137992"
}
]
},
{
"tissue": {
"name": "Lung",
"namespace": "UBERON",
"id": "0002048",
"url": "http://purl.obolibrary.org/obo/UBERON_0002048"
},
"score": "97.48",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000137992",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000137992"
}
]
},
{
"tissue": {
"name": "Liver",
"namespace": "UBERON",
"id": "0002107",
"url": "http://purl.obolibrary.org/obo/UBERON_0002107"
},
"score": "88.4",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000137992",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000137992"
}
]
},
{
"tissue": {
"name": "Prostate gland",
"namespace": "UBERON",
"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
"score": "76.97",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000137992",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000137992"
}
]
},
{
"tissue": {
"name": "Thoracic mammary gland",
"namespace": "UBERON",
"id": "0005200",
"url": "http://purl.obolibrary.org/obo/UBERON_0005200"
},
"score": "79.21",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000137992",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000137992"
}
]
}
],
"expression_disease": [
{
"significant": "No",
"trend": "down",
"name": "Prostate cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10283",
"evidence": [
{
"database": "BioXpress",
"id": "P11182",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11182"
}
],
"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 mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, somatic",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, hereditary",
"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": "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 prostate cancer caused by mutation in RNASEL",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, type 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "HPC1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "Prca1",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "HPC11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "HPC14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "HPC15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "HPCX1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer susceptibility, X-linked",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "HPCX2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MIM:611868",
"resource": "MIM",
"url": "https://www.omim.org/entry/611868",
"name": "Prostate cancer, hereditary, 12",
"description": "Prostate cancer, hereditary, 12"
},
{
"id": "MIM:611928",
"resource": "MIM",
"url": "https://www.omim.org/entry/611928",
"name": "Prostate cancer, hereditary, 13",
"description": "Prostate cancer, hereditary, 13"
},
{
"id": "MIM:176807",
"resource": "MIM",
"url": "https://www.omim.org/entry/176807",
"name": "Prostate cancer",
"description": "Prostate cancer"
},
{
"id": "MIM:601518",
"resource": "MIM",
"url": "https://www.omim.org/entry/601518",
"name": "Prostate cancer, hereditary, 1",
"description": "Prostate cancer, hereditary, 1"
},
{
"id": "MIM:611955",
"resource": "MIM",
"url": "https://www.omim.org/entry/611955",
"name": "Prostate cancer, hereditary, 11",
"description": "Prostate cancer, hereditary, 11"
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]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
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{
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"id": "P11182",
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{
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{
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{
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"resource": "MONDO",
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"name": "gastric cancer",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
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"name": "gastric neoplasm",
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},
{
"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",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
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"name": "gastric cancer",
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},
{
"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",
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"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",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
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"name": "malignant neoplasm of the stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
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"name": "malignant stomach neoplasm",
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},
{
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"resource": "MONDO",
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"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",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of the stomach",
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},
{
"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",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
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"name": "malignant tumour of lesser curve of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of the stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "stomach cancer",
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},
{
"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",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
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"name": "malignant neoplasm of body of stomach",
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},
{
"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",
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]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Urinary bladder cancer [DO disease name]",
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{
"database": "BioXpress",
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{
"id": "DOID:11054",
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{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
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{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "tumor of the bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder neoplasm",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumour",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor, urinary bladder",
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},
{
"id": "MONDO:0001187",
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"name": "malignant tumour of bladder",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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"name": "malignant urinary bladder tumor",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "malignant urinary bladder tumour",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "urinary bladder malignant neoplasm",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumor",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "urinary bladder malignant tumour",
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},
{
"id": "MIM:109800",
"resource": "MIM",
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]
}
]
},
{
"significant": "Yes",
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{
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],
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},
{
"id": "DOID:11934",
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},
{
"id": "DOID:11934",
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},
{
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]
}
]
},
{
"significant": "No",
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{
"database": "BioXpress",
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{
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},
"synonyms": [
{
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"resource": "MONDO",
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},
{
"id": "MONDO:0012159",
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},
{
"id": "MONDO:0012159",
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},
{
"id": "MONDO:0012159",
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},
{
"id": "MONDO:0012942",
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},
{
"id": "MONDO:0012942",
"resource": "MONDO",
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},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
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},
{
"id": "MONDO:0012942",
"resource": "MONDO",
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"name": "adenocarcinoma of lung, susceptibility to",
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},
{
"id": "MONDO:0012955",
"resource": "MONDO",
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"name": "lung cancer susceptibility 4",
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},
{
"id": "MONDO:0012955",
"resource": "MONDO",
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"name": "LNCR4",
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},
{
"id": "MONDO:0012955",
"resource": "MONDO",
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"name": "lung cancer susceptibility 4",
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},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
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},
{
"id": "MONDO:0013631",
"resource": "MONDO",
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"name": "LNCR5",
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},
{
"id": "MONDO:0013631",
"resource": "MONDO",
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"name": "lung cancer susceptibility 5",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
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"name": "lung cancer",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, somatic",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
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"name": "cancer of lung",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
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"name": "lung cancer",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
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"name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
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"name": "lung cancer, somatic",
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},
{
"id": "MONDO:0008903",
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"name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
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},
{
"id": "MONDO:0008903",
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},
{
"id": "MONDO:0008903",
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"name": "malignant lung tumor",
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},
{
"id": "MONDO:0008903",
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},
{
"id": "MONDO:0008903",
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"name": "malignant neoplasm of lung",
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},
{
"id": "MONDO:0008903",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "Nonsmall cell lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "alveolar cell carcinoma",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung neoplasm",
"description": ""
},
{
"id": "MIM:211980",
"resource": "MIM",
"url": "https://www.omim.org/entry/211980",
"name": "Lung cancer",
"description": "Lung cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
{
"database": "BioXpress",
"id": "P11182",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11182"
}
],
"disease": [
{
"disease_id": "DOID:1612",
"recommended_name": {
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast cancer",
"description": "A thoracic cancer that originates in the mammary gland."
},
"synonyms": [
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant neoplasm of breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant tumor of the breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary cancer",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "primary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, lobular, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of the breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial Male",
"description": ""
},
{
"id": "MIM:114480",
"resource": "MIM",
"url": "https://www.omim.org/entry/114480",
"name": "Breast cancer",
"description": "Breast cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Thyroid cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1781",
"evidence": [
{
"database": "BioXpress",
"id": "P11182",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11182"
}
],
"disease": [
{
"disease_id": "DOID:1781",
"recommended_name": {
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid cancer",
"description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage."
},
"synonyms": [
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid gland cancer",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "Thyroid gland neoplasm",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "malignant neoplasm of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "malignant tumour of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "neoplasm of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid neoplasm",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Kidney cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:263",
"evidence": [
{
"database": "BioXpress",
"id": "P11182",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11182"
}
],
"disease": [
{
"disease_id": "DOID:263",
"recommended_name": {
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "kidney cancer",
"description": "A urinary system cancer that is located_in the kidney."
},
"synonyms": [
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant neoplasm of kidney except pelvis",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant tumour of kidney",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "renal cancer",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Liver cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:3571",
"evidence": [
{
"database": "BioXpress",
"id": "P11182",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11182"
}
],
"disease": [
{
"disease_id": "DOID:3571",
"recommended_name": {
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "liver cancer",
"description": "A hepatobiliary system cancer that is located_in the liver."
},
"synonyms": [
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Ca liver - primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Resectable malignant neoplasm of Liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant hepato-biliary neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant tumor of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "non-resectable primary hepatic malignant neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary liver cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "resectable malignant neoplasm of the liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, not specified as primary or secondary",
"description": ""
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Uterine cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:363",
"evidence": [
{
"database": "BioXpress",
"id": "P11182",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11182"
}
],
"disease": [
{
"disease_id": "DOID:363",
"recommended_name": {
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine cancer",
"description": "A female reproductive organ cancer that is located_in the uterus."
},
"synonyms": [
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "CA - cancer of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "Tumour of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterus neoplasm",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Esophageal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:5041",
"evidence": [
{
"database": "BioXpress",
"id": "P11182",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11182"
}
],
"disease": [
{
"disease_id": "DOID:5041",
"recommended_name": {
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophageal cancer",
"description": "A gastrointestinal system cancer that is located_in the esophagus."
},
"synonyms": [
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophagus cancer",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Distal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Proximal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of the middle Third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": "A primary or metastatic malignant neoplasm involving the esophagus."
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
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{
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"header": "tr|Q5VVL7-1|ODB2_HUMAN Computationally mapped isoform of Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial OS=Homo sapiens OX=9606 GN=DBT PE=1 SV=1 CANONICAL=P11182-1"
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{
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"comment": "Phosphoserine",
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{
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{
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}
],
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}
],
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"glycoprotein_reported_with_glycan"
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"title": "2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism.",
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],
"reference": [
{
"type": "PubMed",
"id": "7623837",
"url": "https://glygen.org/publication/PubMed/7623837"
}
]
},
{
"title": "Differential processing of human and rat E1 alpha precursors of the branched-chain alpha-keto acid dehydrogenase complex caused by an N-terminal proline in the rat sequence.",
"journal": "Biochim. Biophys. Acta",
"date": "1994",
"authors": "Wynn RM, Kochi H, Cox RP, Chuang DT",
"evidence": [
{
"database": "UniProtKB",
"id": "P11182",
"url": "https://www.uniprot.org/uniprot/P11182"
},
{
"database": "Reactome",
"id": "R-HSA-70895",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895"
}
],
"reference": [
{
"type": "PubMed",
"id": "7918575",
"url": "https://glygen.org/publication/PubMed/7918575"
}
]
},
{
"title": "Primary structure and tissue-specific expression of human beta-hydroxyisobutyryl-coenzyme A hydrolase.",
"journal": "The Journal of biological chemistry",
"date": "1996",
"authors": "Hawes JW, Jaskiewicz J, Shimomura Y, Huang B, Bunting J, Harper ET, Harris RA",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-70895",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895"
}
],
"reference": [
{
"type": "PubMed",
"id": "8824301",
"url": "https://glygen.org/publication/PubMed/8824301"
}
]
},
{
"title": "Comparative studies of antimitochondrial autoantibodies in sera and bile in primary biliary cirrhosis.",
"journal": "Hepatology",
"date": "1997",
"authors": "Nishio A, Van de Water J, Leung P S, Joplin R, Neuberger J M, Lake J, Bj\u00f6rkland A, T\u00f6tterman T H, Peters M, Worman H J, Ansari A A, Coppel R L, Gershwin M E",
"evidence": [
{
"database": "UniProtKB",
"id": "P11182",
"url": "https://www.uniprot.org/uniprot/P11182"
}
],
"reference": [
{
"type": "PubMed",
"id": "9141421",
"url": "https://glygen.org/publication/PubMed/9141421"
}
]
},
{
"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": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661"
}
],
"reference": [
{
"type": "PubMed",
"id": "9163533",
"url": "https://glygen.org/publication/PubMed/9163533"
}
]
},
{
"title": "Cloning of the rat and human mitochondrial branched chain aminotransferases (BCATm).",
"journal": "Biochimica et biophysica acta",
"date": "1997",
"authors": "Bledsoe RK, Dawson PA, Hutson SM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-70895",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895"
}
],
"reference": [
{
"type": "PubMed",
"id": "9165094",
"url": "https://glygen.org/publication/PubMed/9165094"
}
]
},
{
"title": "Structure of human isovaleryl-CoA dehydrogenase at 2.6 A resolution: structural basis for substrate specificity,.",
"journal": "Biochemistry",
"date": "1997",
"authors": "Tiffany KA, Roberts DL, Wang M, Paschke R, Mohsen AW, Vockley J, Kim JJ",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-70895",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895"
}
],
"reference": [
{
"type": "PubMed",
"id": "9214289",
"url": "https://glygen.org/publication/PubMed/9214289"
}
]
},
{
"title": "Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.",
"journal": "Journal of human genetics",
"date": "1998",
"authors": "Tsuruta M, Mitsubuchi H, Mardy S, Miura Y, Hayashida Y, Kinugasa A, Ishitsu T, Matsuda I, Indo Y",
"evidence": [
{
"database": "UniProtKB",
"id": "P11182",
"url": "https://www.uniprot.org/uniprot/P11182"
}
],
"reference": [
{
"type": "PubMed",
"id": "9621512",
"url": "https://glygen.org/publication/PubMed/9621512"
}
]
},
{
"title": "C-terminal tripeptide Ser-Asn-Leu (SNL) of human D-aspartate oxidase is a functional peroxisome-targeting signal.",
"journal": "The Biochemical journal",
"date": "1998",
"authors": "Amery L, Brees C, Baes M, Setoyama C, Miura R, Mannaerts GP, Van Veldhoven PP",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-389661",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661"
}
],
"reference": [
{
"type": "PubMed",
"id": "9820813",
"url": "https://glygen.org/publication/PubMed/9820813"
}
]
},
{
"title": "Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism.",
"journal": "Molecular genetics and metabolism",
"date": "1998",
"authors": "Roe CR, Cederbaum SD, Roe DS, Mardach R, Galindo A, Sweetman L",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-70895",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895"
}
],
"reference": [
{
"type": "PubMed",
"id": "9889013",
"url": "https://glygen.org/publication/PubMed/9889013"
}
]
}
],
"pathway": [
{
"id": "hsa:1629",
"name": "",
"url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1629",
"resource": "KEGG Pathway"
},
{
"id": "R-HSA-389661",
"name": "Glyoxylate metabolism and glycine degradation",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661",
"resource": "Reactome",
"description": "Glyoxylate metabolism and glycine degradation"
},
{
"id": "R-HSA-70895",
"name": "Branched-chain amino acid catabolism",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895",
"resource": "Reactome",
"description": "Branched-chain amino acid catabolism"
},
{
"id": "R-HSA-9013407",
"name": "RHOH GTPase cycle",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013407",
"resource": "Reactome",
"description": "RHOH GTPase cycle"
},
{
"id": "R-HSA-9837999",
"name": "Mitochondrial protein degradation",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999",
"resource": "Reactome",
"description": "Mitochondrial protein degradation"
}
],
"orthologs": [
{
"uniprot_canonical_ac": "B2GV15-1",
"protein_name": "Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex",
"gene_name": "Dbt",
"tax_id": 10116,
"organism": "Rattus norvegicus",
"sequence": {
"sequence": "MAAARVLGTWSRNAVRLTCVRYFQTYNNVHILKPQHVCSVGYPLLKSSQPRHSLRTAAVLQGQVVQFKLSDIGEGIREVTIKEWYVKEGDTVSQFDSICEVQSDKASVTITSRYDGVIKRLYYNLDDIAYVGKPLIDIETEALKDSEEDVVETPAVAHDEHTHQEIKGQKTLATPAVRRLAMENNIKLSEVVGSGKDGRILKEDILNFLEKQTGAILPPSPKSEITPPPPQPRDRPFPTPVSKPPVFLGKDRTEPVTGFQKAMVKTMSAALKIPHFGYCDEVDLTELVKLREELKPVALARGIKLSFMPFFLKAASLGLLQFPILNASVDENCQSITYKASHNIGIAMDTERGLIVPNVKNVQVRSVFEIAMELNRLQKLGSLGQLSTTDLTGGTFTLSNIGSIGGTYAKPVILPPEVAIGALGAIKALPRFDQKGDVYKAQIMNVSWSADHRVIDGATMSRFSNLWKSYLENPAFMLLDLK",
"length": 482
},
"evidence": [
{
"id": "45929282",
"url": "http://www.informatics.jax.org/homology/45929282",
"database": "MGI"
}
],
"common_name": "Rat"
},
{
"uniprot_canonical_ac": "P53395-1",
"protein_name": "Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial",
"gene_name": "Dbt",
"tax_id": 10090,
"organism": "Mus musculus",
"sequence": {
"sequence": "MAAARVLRTWSQNAVRLTCVRYFQTFNSARVLKPKCVCSVGYPLFKYSQPRHSLRTAAVLQGQVVQFKLSDIGEGIREVTIKEWYVKEGDTVSQFDSICEVQSDKASVTITSRYDGVIKRLYYNLDDIAYVGKPLIDIETEALKDSEEDVVETPAVSHDEHTHQEIKGQKTLATPAVRRLAMENNIKLSEVVGSGKDGRILKEDILSFLEKQTGAILPPSPKSEITPPPPQPKDRTFPTPIAKPPVFTGKDRTEPVTGFQKAMVKTMSAALKIPHFGYCDEIDLTQLVKLREELKPVALARGIKLSFMPFFLKAASLGLLQFPILNASVDENCQNITYKASHNIGIAMDTELGLIVPNVKNVQVRSVFEIAMELNRLQKLGSSGQLGTTDLTGGTFTLSNIGSIGGTYAKPVILPPEVAIGALGAIKALPRFDQKGDVYKAQIMNVSWSADHRVIDGATMSRFSNLWKSYLENPAFMLLDLK",
"length": 482
},
"evidence": [
{
"id": "45929282",
"url": "http://www.informatics.jax.org/homology/45929282",
"database": "MGI"
}
],
"common_name": "Mouse"
}
],
"go_annotation": {
"categories": [
{
"name": "Cellular Component",
"total": 8,
"go_terms": [
{
"name": "mitochondrial matrix",
"id": "GO:0005759",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759",
"evidence": [
{
"database": "UniProtKB",
"id": "P11182",
"url": "https://www.uniprot.org/uniprot/P11182"
}
],
"pmid": ""
},
{
"name": "cytoplasm",
"id": "GO:0005737",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737",
"evidence": [
{
"database": "UniProtKB",
"id": "P11182",
"url": "https://www.uniprot.org/uniprot/P11182"
}
],
"pmid": ""
},
{
"name": "mitochondrion",
"id": "GO:0005739",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739",
"evidence": [
{
"database": "UniProtKB",
"id": "P11182",
"url": "https://www.uniprot.org/uniprot/P11182"
}
],
"pmid": ""
},
{
"name": "cytosol",
"id": "GO:0005829",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829",
"evidence": [
{
"database": "UniProtKB",
"id": "P11182",
"url": "https://www.uniprot.org/uniprot/P11182"
}
],
"pmid": ""
},
{
"name": "mitochondrial nucleoid",
"id": "GO:0042645",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042645",
"evidence": [
{
"database": "UniProtKB",
"id": "P11182",
"url": "https://www.uniprot.org/uniprot/P11182"
}
],
"pmid": ""
},
{
"name": "microtubule cytoskeleton",
"id": "GO:0015630",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630",
"evidence": [
{
"database": "UniProtKB",
"id": "P11182",
"url": "https://www.uniprot.org/uniprot/P11182"
}
],
"pmid": ""
},
{
"name": "mitochondrial alpha-ketoglutarate dehydrogenase complex",
"id": "GO:0005947",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005947",
"evidence": [
{
"database": "UniProtKB",
"id": "P11182",
"url": "https://www.uniprot.org/uniprot/P11182"
}
],
"pmid": ""
},
{
"name": "oxidoreductase complex",
"id": "GO:1990204",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990204",
"evidence": [
{
"database": "UniProtKB",
"id": "P11182",
"url": "https://www.uniprot.org/uniprot/P11182"
}
],
"pmid": ""
}
]
},
{
"name": "Molecular Function",
"total": 5,
"go_terms": [
{
"name": "acyltransferase activity",
"id": "GO:0016746",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016746",
"evidence": [
{
"database": "UniProtKB",
"id": "P11182",
"url": "https://www.uniprot.org/uniprot/P11182"
}
],
"pmid": ""
},
{
"name": "dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity",
"id": "GO:0043754",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043754",
"evidence": [
{
"database": "UniProtKB",
"id": "P11182",
"url": "https://www.uniprot.org/uniprot/P11182"
}
],
"pmid": ""
},
{
"name": "ubiquitin protein ligase binding",
"id": "GO:0031625",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625",
"evidence": [
{
"database": "UniProtKB",
"id": "P11182",
"url": "https://www.uniprot.org/uniprot/P11182"
}
],
"pmid": ""
},
{
"name": "acetyltransferase activity",
"id": "GO:0016407",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016407",
"evidence": [
{
"database": "UniProtKB",
"id": "P11182",
"url": "https://www.uniprot.org/uniprot/P11182"
}
],
"pmid": ""
},
{
"name": "lipoic acid binding",
"id": "GO:0031405",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031405",
"evidence": [
{
"database": "UniProtKB",
"id": "P11182",
"url": "https://www.uniprot.org/uniprot/P11182"
}
],
"pmid": ""
}
]
},
{
"name": "Biological Process",
"total": 2,
"go_terms": [
{
"name": "carboxylic acid metabolic process",
"id": "GO:0019752",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019752",
"evidence": [
{
"database": "UniProtKB",
"id": "P11182",
"url": "https://www.uniprot.org/uniprot/P11182"
}
],
"pmid": ""
},
{
"name": "branched-chain amino acid catabolic process",
"id": "GO:0009083",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009083",
"evidence": [
{
"database": "UniProtKB",
"id": "P11182",
"url": "https://www.uniprot.org/uniprot/P11182"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [],
"site_annotation": [
{
"start_pos": 326,
"end_pos": 328,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 335,
"end_pos": 337,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 445,
"end_pos": 447,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [],
"interactions": [],
"reactions": [
{
"id": "18865",
"name": "",
"equation": "2-methylpropanoyl-CoA + N(6)-[(R)-dihydrolipoyl]-L-lysyl-[protein] = CoA + N(6)-[(R)-S(8)-2-methylpropanoyldihydrolipoyl]-L-lysyl-[protein]",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"B2GV15-1",
"P11182-1",
"P53395-1",
"Q54TR7-1",
"Q9VXY3-1"
],
"evidence": [
{
"id": "18865",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/18865"
}
]
},
{
"id": "R-HSA-5693148",
"name": "BCKDK phosphorylates BCKDH",
"equation": "",
"summary": "Mitochondrial 3-methyl-2-oxobutanoate dehydrogenase (lipoamide) kinase (BCKDK) catalyses the phosphorylation and inactivation of the branched-chain alpha-ketoacid dehydrogenase (BCKDH) complex, the key regulatory enzyme of the valine, leucine and isoleucine catabolic pathways (Li et al. 2004, Wynn et al. 2004). BCKDH occupies a strategic point in the branched-chain amino acid (BCAA) catabolic pathway, and careful regulation of its activity is essential for correct BCAA metabolism. The overall activity of the BCKDH complex is controlled by the phosphorylation (inactivation)/dephosphorylation (activation) cycle.
Defects in BCKDK can cause branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD; MIM:614923), a metabolic disorder characterised by autism, epilepsy, intellectual disability, and reduced BCAAs (Novarino et al. 2012, Garcia-Cazorla et al. 2014).",
"cellular_location": "mitochondrial matrix",
"input_participant_list": [
"R-HSA-70019"
],
"output_participant_list": [],
"enzyme_list": [
"P11182-1",
"P09622-1",
"O14874-1",
"P12694-1",
"P21953-1"
],
"evidence": [
{
"id": "R-HSA-5693148",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693148"
}
]
},
{
"id": "R-HSA-5693153",
"name": "PPM1K dephosphorylates p-BCKDH",
"equation": "",
"summary": "The branched-chain alpha-ketoacid dehydrogenase (BCKDH) complex occupies a strategic point in the branched-chain amino acid (BCAA) catabolic pathway, and careful regulation of its activity is essential for correct BCAA metabolism. The overall activity of the BCKDH complex is controlled by the phosphorylation (inactivation)/dephosphorylation (activation) cycle. Mitochondrial protein phosphatase 1K (PPM1K) dephosphorylates the E1 beta subunit of BCKDH therby regaining its active state. PPM1K requires Mn2+ as a cofactor for phosphatase activity (Wynn et al. 2012).",
"cellular_location": "mitochondrial matrix",
"input_participant_list": [
"R-HSA-5693120"
],
"output_participant_list": [],
"enzyme_list": [
"P11182-1",
"P09622-1",
"Q8N3J5-1",
"P12694-1",
"P21953-1"
],
"evidence": [
{
"id": "R-HSA-5693153",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693153"
}
]
},
{
"id": "R-HSA-6792572",
"name": "LIPT1 transfers lipoyl group from lipoyl-GCSH to DHs",
"equation": "",
"summary": "Lipoate is an essential cofactor for two enzymes from energy metabolism (alpha-ketoglutarate dehydrogenase and pyruvate dehydrogenase) and three from amino acid metabolism (branched-chain ketoacid dehydrogenase, 2-oxoadipate dehydrogenase, and the glycine cleavage system). Lipoate synthesis in mitochondria requires three steps. In the third step, mitochondrial lipoyltransferase 1 (LIPT1) catalyses the transfer of a lipoyl group from lipoyl-K107-GCSH to lysine residue(s) of lipoate-dependent enzymes (Fujiwara et al. 1999). Defects in LIPT1 reduce lipoylation of pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase, causing a cofactor disorder of mitochondrial energy metabolism (Soreze et al. 2013, Tort et al. 2014).",
"cellular_location": "mitochondrial matrix",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P36957-1",
"Q02218-1",
"P10515-1",
"P29803-1",
"P11182-1",
"P09622-1",
"Q96HY7-1",
"P08559-1",
"P11177-1",
"P12694-1",
"P21953-1",
"Q9Y234-1"
],
"evidence": [
{
"id": "R-HSA-6792572",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6792572"
}
]
},
{
"id": "R-HSA-70713",
"name": "BCKDH transfers CoA group from CoA-SH to BCAAs",
"equation": "",
"summary": "The mitochondrial branched-chain alpha-ketoacid dehydrogenase (BKCDH) complex catalyzes the reactions of alpha-ketoisocaproate, alpha-keto beta-methylvalerate, or alpha-ketoisovalerate with CoA and NAD+ to form isovaleryl-CoA, a-methylbutyryl-CoA, or isobutyryl-CoA, respectively, and CO2 and NADH (Chuang and Shih 2001). While bovine and microbial BCKD complexes have been characterized most extensively (Reed and Hackert 1990), structural studies of individual components and subcomplexes of human BKCD have confirmed their structures and roles in the overall oxidative carboxylation process, and have related these features to the disruptive effects of mutations on branched-chain amino acid metabolism in vivo: E1a and E1b components - AEvarsson et al. 2000; E2 - Chang et al. 2002; E3- Brautigam et al. 2005. In addition, structural studies have confirmed the lipoylation of lysine residue 44 in E2 protein (Chang et al. 2002) and the loss of an aminoterminal mitochondrial transport sequence from mature E3 protein (Bruatigam et al. 2005). Loss of mitochondrial transport sequences from proteins E1a, E1b, and E2 has been domstrated by sequence analysis (Wynn et al. 1999).",
"cellular_location": "mitochondrial matrix",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11182-1",
"P09622-1",
"P12694-1",
"P21953-1"
],
"evidence": [
{
"id": "R-HSA-70713",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70713"
}
]
},
{
"id": "R-HSA-9018758",
"name": "RHOH binds effectors at the plasma membrane",
"equation": "",
"summary": "RHOH plays an important role in development of T lymphocytes and binds to several kinases involved in T lymphocyte activation, including:
ZAP70 (Gu et al. 2006, Chae et al. 2010, Wang et al. 2011)
LCK (Chae et al. 2010, Wang et al. 2011)
CSK (Wang et al. 2010).
Additional RHOH interactors include:
PAK1 (Wang et al. 2010; Tajadura Ortega et al. 2018)
PAK2 (Tajadura Ortega et al. 2018)
PAK4 (Tajadura Ortega et al. 2018)
PAK5 (Wu and Frost 2006; Tajadura Ortega et al. 2018)
PAK6 (Tajadura Ortega et al. 2018)
The following RHOH interactors have only been reported in a high throughput screen by Bagci et al. 2020, and are therefore annotated as candidate RHOH effectors:
CAV1 (Bagci et al. 2020).
DBN1 (Bagci et al. 2020)
DBT (Bagci et al. 2020)
FAM91A1 (Bagci et al. 2020)
JUP (Bagci et al. 2020)
LAMTOR1 (Bagci et al. 2020)
MTR (Bagci et al. 2020)
NIPSNAP2 (Bagci et al. 2020)
NSFL1C (Bagci et al. 2020)
OSBPL11 (Bagci et al. 2020)
RAB7A (Bagci et al. 2020)
RALGAPA1 (Bagci et al. 2020)
ROCK1 (Bagci et al. 2020)
ROCK2 (Bagci et al. 2020)
SLC1A5 (Bagci et al. 2020)
SLC4A7 (Bagci et al. 2020)
STOM (Bagci et al. 2020)
TFRC (Bagci et al. 2020)
TMEM59 (Bagci et al. 2020)
TUBA1B (Bagci et al. 2020)
UACA (Bagci et al. 2020)
VAMP3 (Bagci et al. 2020)
VANGL1 (Bagci et al. 2020)
VCP (Bagci et al. 2020)
WDR11 (Bagci et al. 2020)",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q13464-1",
"P41240-1",
"Q99707-1",
"P11182-1",
"O75116-1",
"P55072-1",
"P06239-1",
"Q13153-1",
"Q13177-1",
"P68363-1",
"Q9P286-1",
"P43403-1",
"O96013-1",
"Q9NQU5-1",
"P51149-1"
],
"evidence": [
{
"id": "R-HSA-9018758",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018758"
}
]
},
{
"id": "R-HSA-9838081",
"name": "LONP1 degrades mitochondrial matrix proteins",
"equation": "",
"summary": "ATP hydrolysis drives translocation of the substrate protein to the active site of LONP1 (Ambro et al. 2014, Mohammed et al. 2022) where it induces the active conformation of LONP1 (Shin et al. 2021). LONP1 predominantly cleaves peptide bonds adjacent to hydrophobic amino acid residues (He et al. 2018). LONP1 degrades several mitochondrial matrix proteins (Lee et al. 2021), including steroidogenic acute regulatory protein (STAR) (Ondrovicova et al. 2005), the helicase TWNK (Twinkle, PEO1) (Kunova et al. 2017), oxidized aconitase (ACO2) (Bota and Davies 2002), HMGCS2 (Bai et al. 2023), and unassembled ribosomal subunits (Kunova et al. 2017). Phosphorylation of the HMG1 domain of TFAM prevents DNA binding and LONP1 specifically degrades TFAM that is not bound to DNA (Lu et al. 2013). LONP1 in association with mtHSP70 also possesses an ATP-dependent chaperone (protein folding) activity that is independent of its protease activity (Shin et al. 2021, Matsushima et al. 2021). A dominant mutation in LONP1 (c.901C>T; p.R301W) causes excessive protease activity and reduced chaperone activity that results in reduced mitochondrial function and encephalopathy (Besse et al. 2020). Mutations in LONP1 cause cerebral, ocular, dental, auricular, and skeletal anomalies (CODAS) syndrome (MIM 600373) (Dikoglu et al. 2015, Strauss et al. 2015).",
"cellular_location": "mitochondrial matrix",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O75390-1",
"P54868-1",
"P28331-1",
"Q02218-1",
"P07954-1",
"Q4G0N4-1",
"P11182-1",
"P49753-1",
"Q99714-1",
"Q99798-1",
"P45954-1",
"P06576-1",
"Q9UKU7-1",
"P30837-1",
"P05091-1",
"P78540-1",
"P22830-1",
"Q9NWU1-1",
"Q96RR1-1",
"P55809-1",
"P42126-1",
"Q13011-1",
"P10809-1",
"P00367-1",
"P36776-1",
"P11177-1",
"P24752-1",
"P40926-1",
"P05166-1",
"P23368-1",
"Q16836-1",
"Q15118-1",
"Q9NSE4-1"
],
"evidence": [
{
"id": "R-HSA-9838081",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9838081"
}
]
},
{
"id": "R-HSA-9838093",
"name": "LONP1 binds mitochondrial matrix proteins",
"equation": "",
"summary": "LONP1 binds substrate proteins and degrades them using an ATP-dependent mechanism (Mohammed et al. 2022). The binding of proteins to LONP1 can allosterically stimulate its ATPase activity (inferred from bacterial Lon proteases in Waxman et al. 1986, Lin et al. 2016). Human LONP1 binds, unfolds, and degrades several mitochondrial matrix proteins (Lee et al. 2021), including oxidized aconitase in which hydrophobic regions are exposed (Bota and Davies 2002). However, LONP1 is unable to degrade aggregated oxidized aconitase (Bota and Davies 2002). Steroidogenic acute regulatory protein (STAR) is directed to the mitochondrial matrix for degradation by LONP1 and other proteases (Ondrovicova et al. 2005, Granot et al. 2007). The mitochondrial large ribosome subunit MRPL32 is degraded by LONP1 when MRPL32 is not incorporated in the ribosome and hence not bound to nucleic acid (Kunova et al. 2017). Other ribosomal subunits appear to be similarly degraded (Kunova et al. 2017). The helicase TWNK (Twinkle, PEO1) is degraded by LONP1 regardless of its association with nucleic acid (Kunova et al. 2017). Other substrates of LONP1 may include SSBP1, MTERFD3, FASTKD2, and CLPX (Rend\u00f3n and Shoubridge 2018).",
"cellular_location": "mitochondrial matrix",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O75390-1",
"P54868-1",
"P28331-1",
"Q02218-1",
"P07954-1",
"Q4G0N4-1",
"P11182-1",
"P49753-1",
"Q99714-1",
"Q99798-1",
"P45954-1",
"P06576-1",
"Q9UKU7-1",
"P30837-1",
"P05091-1",
"P78540-1",
"P22830-1",
"Q9NWU1-1",
"Q96RR1-1",
"P55809-1",
"P42126-1",
"Q13011-1",
"P10809-1",
"P00367-1",
"P36776-1",
"P11177-1",
"P24752-1",
"P40926-1",
"P05166-1",
"P23368-1",
"Q16836-1",
"Q15118-1",
"Q9NSE4-1"
],
"evidence": [
{
"id": "R-HSA-9838093",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9838093"
}
]
}
],
"reaction_participants": [
{
"participant_id": "R-HSA-5693120",
"participant_name": "p-BCKDH [mitochondrial matrix]",
"crossref": [
{
"id": "CPX-2216",
"database": "ComplexPortal",
"url": ""
}
]
},
{
"participant_id": "R-HSA-70019",
"participant_name": "lipo-BCKDH [mitochondrial matrix]",
"crossref": [
{
"id": "CPX-2216",
"database": "ComplexPortal",
"url": ""
}
]
}
],
"reaction_enzymes": [
{
"uniprot_ac": "B2GV15",
"gene_name": "Dbt",
"activity": [
{
"ec_number": "2.3.1.-",
"activity": "",
"evidence": [
{
"id": "B2GV15",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/B2GV15"
}
]
}
]
},
{
"uniprot_ac": "O14874",
"gene_name": "BCKDK",
"activity": [
{
"ec_number": "2.7.11.-",
"activity": "",
"evidence": [
{
"id": "O14874",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O14874"
}
]
},
{
"ec_number": "2.7.11.1",
"activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].",
"evidence": [
{
"id": "O14874",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O14874"
}
]
},
{
"ec_number": "2.7.11.4",
"activity": "ATP + L-seryl-[3-methyl-2-oxobutanoate dehydrogenase] = ADP + H(+) + O-phospho-L-seryl-[3-methyl-2-oxobutanoate dehydrogenase].",
"evidence": [
{
"id": "O14874",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O14874"
}
]
},
{
"ec_number": "2.7.11.1",
"activity": "",
"evidence": [
{
"id": "O14874",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O14874"
}
]
}
]
},
{
"uniprot_ac": "O75116",
"gene_name": "ROCK2",
"activity": [
{
"ec_number": "2.7.11.1",
"activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].",
"evidence": [
{
"id": "O75116",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O75116"
}
]
},
{
"ec_number": "2.7.11.1",
"activity": "",
"evidence": [
{
"id": "O75116",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O75116"
}
]
}
]
},
{
"uniprot_ac": "O75390",
"gene_name": "CS",
"activity": [
{
"ec_number": "2.3.3.1",
"activity": "acetyl-CoA + H2O + oxaloacetate = citrate + CoA + H(+).",
"evidence": [
{
"id": "O75390",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O75390"
}
]
},
{
"ec_number": "2.3.3.1",
"activity": "",
"evidence": [
{
"id": "O75390",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O75390"
}
]
}
]
},
{
"uniprot_ac": "O96013",
"gene_name": "PAK4",
"activity": [
{
"ec_number": "2.7.11.1",
"activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].",
"evidence": [
{
"id": "O96013",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O96013"
}
]
},
{
"ec_number": "2.7.11.1",
"activity": "",
"evidence": [
{
"id": "O96013",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O96013"
}
]
}
]
},
{
"uniprot_ac": "P00367",
"gene_name": "GLUD1",
"activity": [
{
"ec_number": "1.4.1.3",
"activity": "H2O + L-glutamate + NAD(+) = 2-oxoglutarate + H(+) + NADH + NH4(+).",
"evidence": [
{
"id": "P00367",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00367"
}
]
},
{
"ec_number": "1.4.1.3",
"activity": "",
"evidence": [
{
"id": "P00367",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00367"
}
]
}
]
},
{
"uniprot_ac": "P05091",
"gene_name": "ALDH2",
"activity": [
{
"ec_number": "1.2.1.3",
"activity": "an aldehyde + H2O + NAD(+) = a carboxylate + 2 H(+) + NADH.",
"evidence": [
{
"id": "P05091",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P05091"
}
]
},
{
"ec_number": "1.2.1.3",
"activity": "",
"evidence": [
{
"id": "P05091",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P05091"
}
]
}
]
},
{
"uniprot_ac": "P05166",
"gene_name": "PCCB",
"activity": [
{
"ec_number": "6.4.1.3",
"activity": "ATP + hydrogencarbonate + propanoyl-CoA = (S)-methylmalonyl-CoA + ADP + H(+) + phosphate.",
"evidence": [
{
"id": "P05166",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P05166"
}
]
},
{
"ec_number": "6.4.1.3",
"activity": "",
"evidence": [
{
"id": "P05166",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P05166"
}
]
}
]
},
{
"uniprot_ac": "P06239",
"gene_name": "LCK",
"activity": [
{
"ec_number": "2.7.10.2",
"activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].",
"evidence": [
{
"id": "P06239",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P06239"
}
]
},
{
"ec_number": "2.7.10.2",
"activity": "",
"evidence": [
{
"id": "P06239",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P06239"
}
]
}
]
},
{
"uniprot_ac": "P06576",
"gene_name": "ATP5F1B",
"activity": [
{
"ec_number": "7.1.2.2",
"activity": "ATP + 4 H(+)(in) + H2O = ADP + 5 H(+)(out) + phosphate.",
"evidence": [
{
"id": "P06576",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P06576"
}
]
},
{
"ec_number": "7.1.2.2",
"activity": "",
"evidence": [
{
"id": "P06576",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P06576"
}
]
}
]
},
{
"uniprot_ac": "P07954",
"gene_name": "FH",
"activity": [
{
"ec_number": "4.2.1.2",
"activity": "(S)-malate = fumarate + H2O.",
"evidence": [
{
"id": "P07954",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P07954"
}
]
},
{
"ec_number": "4.2.1.2",
"activity": "",
"evidence": [
{
"id": "P07954",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P07954"
}
]
}
]
},
{
"uniprot_ac": "P08559",
"gene_name": "PDHA1",
"activity": [
{
"ec_number": "1.2.4.1",
"activity": "H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase] + pyruvate = CO2 + N(6)-[(R)-S(8)-acetyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase].",
"evidence": [
{
"id": "P08559",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P08559"
}
]
},
{
"ec_number": "1.2.4.1",
"activity": "",
"evidence": [
{
"id": "P08559",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P08559"
}
]
}
]
},
{
"uniprot_ac": "P09622",
"gene_name": "DLD",
"activity": [
{
"ec_number": "1.8.1.4",
"activity": "N(6)-[(R)-dihydrolipoyl]-L-lysyl-[protein] + NAD(+) = H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[protein] + NADH.",
"evidence": [
{
"id": "P09622",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P09622"
}
]
},
{
"ec_number": "1.8.1.4",
"activity": "",
"evidence": [
{
"id": "P09622",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P09622"
}
]
}
]
},
{
"uniprot_ac": "P10515",
"gene_name": "DLAT",
"activity": [
{
"ec_number": "2.3.1.12",
"activity": "acetyl-CoA + N(6)-[(R)-dihydrolipoyl]-L-lysyl-[protein] = CoA + N(6)-[(R)-S(8)-acetyldihydrolipoyl]-L-lysyl-[protein].",
"evidence": [
{
"id": "P10515",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P10515"
}
]
},
{
"ec_number": "2.3.1.12",
"activity": "",
"evidence": [
{
"id": "P10515",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P10515"
}
]
},
{
"ec_number": "2.3.1.-",
"activity": "",
"evidence": [
{
"id": "P10515",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P10515"
}
]
}
]
},
{
"uniprot_ac": "P10809",
"gene_name": "HSPD1",
"activity": [
{
"ec_number": "5.6.1.7",
"activity": "ATP + H2O + a folded polypeptide = ADP + phosphate + an unfolded polypeptide.",
"evidence": [
{
"id": "P10809",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P10809"
}
]
},
{
"ec_number": "5.6.1.7",
"activity": "",
"evidence": [
{
"id": "P10809",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P10809"
}
]
}
]
},
{
"uniprot_ac": "P11177",
"gene_name": "PDHB",
"activity": [
{
"ec_number": "1.2.4.1",
"activity": "H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase] + pyruvate = CO2 + N(6)-[(R)-S(8)-acetyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase].",
"evidence": [
{
"id": "P11177",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P11177"
}
]
},
{
"ec_number": "1.2.4.1",
"activity": "",
"evidence": [
{
"id": "P11177",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P11177"
}
]
}
]
},
{
"uniprot_ac": "P11182",
"gene_name": "DBT",
"activity": [
{
"ec_number": "2.3.1.-",
"activity": "",
"evidence": [
{
"id": "P11182",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P11182"
}
]
},
{
"ec_number": "2.3.1.168",
"activity": "2-methylpropanoyl-CoA + N(6)-[(R)-dihydrolipoyl]-L-lysyl-[protein] = CoA + N(6)-[(R)-S(8)-2-methylpropanoyldihydrolipoyl]-L-lysyl-[protein].",
"evidence": [
{
"id": "P11182",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P11182"
}
]
},
{
"ec_number": "2.3.1.168",
"activity": "",
"evidence": [
{
"id": "P11182",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P11182"
}
]
}
]
},
{
"uniprot_ac": "P12694",
"gene_name": "BCKDHA",
"activity": [
{
"ec_number": "1.2.4.4",
"activity": "3-methyl-2-oxobutanoate + H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] = CO2 + N(6)-[(R)-S(8)-2-methylpropanoyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue (2-methylpropanoyl)transferase].",
"evidence": [
{
"id": "P12694",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P12694"
}
]
},
{
"ec_number": "1.2.4.4",
"activity": "",
"evidence": [
{
"id": "P12694",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P12694"
}
]
}
]
},
{
"uniprot_ac": "P21953",
"gene_name": "BCKDHB",
"activity": [
{
"ec_number": "1.2.4.4",
"activity": "3-methyl-2-oxobutanoate + H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] = CO2 + N(6)-[(R)-S(8)-2-methylpropanoyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue (2-methylpropanoyl)transferase].",
"evidence": [
{
"id": "P21953",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P21953"
}
]
},
{
"ec_number": "1.2.4.4",
"activity": "",
"evidence": [
{
"id": "P21953",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P21953"
}
]
}
]
},
{
"uniprot_ac": "P22830",
"gene_name": "FECH",
"activity": [
{
"ec_number": "4.98.1.1",
"activity": "2 H(+) + heme b = Fe(2+) + protoporphyrin IX.",
"evidence": [
{
"id": "P22830",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P22830"
}
]
},
{
"ec_number": "4.98.1.1",
"activity": "",
"evidence": [
{
"id": "P22830",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P22830"
}
]
}
]
},
{
"uniprot_ac": "P23368",
"gene_name": "ME2",
"activity": [
{
"ec_number": "1.1.1.38",
"activity": "H(+) + oxaloacetate = CO2 + pyruvate.",
"evidence": [
{
"id": "P23368",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P23368"
}
]
},
{
"ec_number": "1.1.1.38",
"activity": "",
"evidence": [
{
"id": "P23368",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P23368"
}
]
}
]
},
{
"uniprot_ac": "P24752",
"gene_name": "ACAT1",
"activity": [
{
"ec_number": "2.3.1.9",
"activity": "2 acetyl-CoA = acetoacetyl-CoA + CoA.",
"evidence": [
{
"id": "P24752",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P24752"
}
]
},
{
"ec_number": "2.3.1.9",
"activity": "",
"evidence": [
{
"id": "P24752",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P24752"
}
]
}
]
},
{
"uniprot_ac": "P28331",
"gene_name": "NDUFS1",
"activity": [
{
"ec_number": "7.1.1.2",
"activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).",
"evidence": [
{
"id": "P28331",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P28331"
}
]
},
{
"ec_number": "7.1.1.2",
"activity": "",
"evidence": [
{
"id": "P28331",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P28331"
}
]
}
]
},
{
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"gene_name": "PDHA2",
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{
"ec_number": "1.2.4.1",
"activity": "H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase] + pyruvate = CO2 + N(6)-[(R)-S(8)-acetyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase].",
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{
"id": "P29803",
"database": "UniProtKB",
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}
]
},
{
"ec_number": "1.2.4.1",
"activity": "",
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{
"id": "P29803",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P29803"
}
]
}
]
},
{
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"gene_name": "ALDH1B1",
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{
"ec_number": "1.2.1.3",
"activity": "an aldehyde + H2O + NAD(+) = a carboxylate + 2 H(+) + NADH.",
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{
"id": "P30837",
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}
]
},
{
"ec_number": "1.2.1.3",
"activity": "",
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{
"id": "P30837",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P30837"
}
]
}
]
},
{
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"gene_name": "LONP1",
"activity": [
{
"ec_number": "3.4.21.53",
"activity": "Hydrolysis of proteins in presence of ATP.",
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{
"id": "P36776",
"database": "UniProtKB",
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}
]
},
{
"ec_number": "3.4.21.53",
"activity": "",
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{
"id": "P36776",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P36776"
}
]
}
]
},
{
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"gene_name": "DLST",
"activity": [
{
"ec_number": "2.3.1.61",
"activity": "N(6)-[(R)-dihydrolipoyl]-L-lysyl-[2-oxoglutarate dehydrogenase complex component E2] + succinyl-CoA = CoA + N(6)-[(R)-S(8)-succinyldihydrolipoyl]-L-lysyl-[2-oxoglutarate dehydrogenase complex component E2].",
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{
"id": "P36957",
"database": "UniProtKB",
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}
]
},
{
"ec_number": "2.3.1.61",
"activity": "",
"evidence": [
{
"id": "P36957",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P36957"
}
]
},
{
"ec_number": "2.3.1.-",
"activity": "",
"evidence": [
{
"id": "P36957",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P36957"
}
]
}
]
},
{
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"gene_name": "MDH2",
"activity": [
{
"ec_number": "1.1.1.37",
"activity": "(S)-malate + NAD(+) = H(+) + NADH + oxaloacetate.",
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{
"id": "P40926",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P40926"
}
]
},
{
"ec_number": "1.1.1.37",
"activity": "",
"evidence": [
{
"id": "P40926",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P40926"
}
]
}
]
},
{
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"gene_name": "CSK",
"activity": [
{
"ec_number": "2.7.10.2",
"activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].",
"evidence": [
{
"id": "P41240",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P41240"
}
]
},
{
"ec_number": "2.7.10.2",
"activity": "",
"evidence": [
{
"id": "P41240",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P41240"
}
]
}
]
},
{
"uniprot_ac": "P42126",
"gene_name": "ECI1",
"activity": [
{
"ec_number": "5.3.3.8",
"activity": "a (3Z)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA.",
"evidence": [
{
"id": "P42126",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P42126"
}
]
},
{
"ec_number": "5.3.3.8",
"activity": "",
"evidence": [
{
"id": "P42126",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P42126"
}
]
}
]
},
{
"uniprot_ac": "P43403",
"gene_name": "ZAP70",
"activity": [
{
"ec_number": "2.7.10.2",
"activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].",
"evidence": [
{
"id": "P43403",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P43403"
}
]
},
{
"ec_number": "2.7.10.2",
"activity": "",
"evidence": [
{
"id": "P43403",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P43403"
}
]
}
]
},
{
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"gene_name": "ACADSB",
"activity": [
{
"ec_number": "1.3.8.5",
"activity": "2-methylbutanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E)-2-methylbut-2-enoyl-CoA + reduced [electron-transfer flavoprotein].",
"evidence": [
{
"id": "P45954",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P45954"
}
]
},
{
"ec_number": "1.3.8.5",
"activity": "",
"evidence": [
{
"id": "P45954",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P45954"
}
]
}
]
},
{
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"gene_name": "ACOT2",
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{
"ec_number": "3.1.2.2",
"activity": "H2O + hexadecanoyl-CoA = CoA + H(+) + hexadecanoate.",
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{
"id": "P49753",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P49753"
}
]
},
{
"ec_number": "3.1.2.2",
"activity": "",
"evidence": [
{
"id": "P49753",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P49753"
}
]
}
]
},
{
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"gene_name": "RAB7A",
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{
"ec_number": "3.6.5.2",
"activity": "GTP + H2O = GDP + H(+) + phosphate.",
"evidence": [
{
"id": "P51149",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P51149"
}
]
},
{
"ec_number": "3.6.5.2",
"activity": "",
"evidence": [
{
"id": "P51149",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P51149"
}
]
}
]
},
{
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"gene_name": "Dbt",
"activity": [
{
"ec_number": "2.3.1.168",
"activity": "2-methylpropanoyl-CoA + N(6)-[(R)-dihydrolipoyl]-L-lysyl-[protein] = CoA + N(6)-[(R)-S(8)-2-methylpropanoyldihydrolipoyl]-L-lysyl-[protein].",
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{
"id": "P53395",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P53395"
}
]
},
{
"ec_number": "2.3.1.168",
"activity": "",
"evidence": [
{
"id": "P53395",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P53395"
}
]
}
]
},
{
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"gene_name": "HMGCS2",
"activity": [
{
"ec_number": "2.3.3.10",
"activity": "acetoacetyl-CoA + acetyl-CoA + H2O = (3S)-hydroxy-3-methylglutaryl-CoA + CoA + H(+).",
"evidence": [
{
"id": "P54868",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P54868"
}
]
},
{
"ec_number": "2.3.3.10",
"activity": "",
"evidence": [
{
"id": "P54868",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P54868"
}
]
}
]
},
{
"uniprot_ac": "P55072",
"gene_name": "VCP",
"activity": [
{
"ec_number": "3.6.4.6",
"activity": "ATP + H2O = ADP + H(+) + phosphate.",
"evidence": [
{
"id": "P55072",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P55072"
}
]
},
{
"ec_number": "3.6.4.6",
"activity": "",
"evidence": [
{
"id": "P55072",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P55072"
}
]
}
]
},
{
"uniprot_ac": "P55809",
"gene_name": "OXCT1",
"activity": [
{
"ec_number": "2.8.3.5",
"activity": "a 3-oxo acid + succinyl-CoA = a 3-oxoacyl-CoA + succinate.",
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{
"id": "P55809",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P55809"
}
]
},
{
"ec_number": "2.8.3.5",
"activity": "",
"evidence": [
{
"id": "P55809",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P55809"
}
]
}
]
},
{
"uniprot_ac": "P68363",
"gene_name": "TUBA1B",
"activity": [
{
"ec_number": "3.6.5.-",
"activity": "",
"evidence": [
{
"id": "P68363",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P68363"
}
]
}
]
},
{
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"gene_name": "ARG2",
"activity": [
{
"ec_number": "3.5.3.1",
"activity": "H2O + L-arginine = L-ornithine + urea.",
"evidence": [
{
"id": "P78540",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P78540"
}
]
},
{
"ec_number": "3.5.3.1",
"activity": "",
"evidence": [
{
"id": "P78540",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P78540"
}
]
}
]
},
{
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"gene_name": "OGDH",
"activity": [
{
"ec_number": "1.2.4.2",
"activity": "2-oxoglutarate + H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue succinyltransferase] = CO2 + N(6)-[(R)-S(8)-succinyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue succinyltransferase].",
"evidence": [
{
"id": "Q02218",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q02218"
}
]
},
{
"ec_number": "1.2.4.2",
"activity": "",
"evidence": [
{
"id": "Q02218",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q02218"
}
]
}
]
},
{
"uniprot_ac": "Q13011",
"gene_name": "ECH1",
"activity": [
{
"ec_number": "5.3.3.-",
"activity": "",
"evidence": [
{
"id": "Q13011",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q13011"
}
]
}
]
},
{
"uniprot_ac": "Q13153",
"gene_name": "PAK1",
"activity": [
{
"ec_number": "2.7.11.1",
"activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].",
"evidence": [
{
"id": "Q13153",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q13153"
}
]
},
{
"ec_number": "2.7.11.1",
"activity": "",
"evidence": [
{
"id": "Q13153",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q13153"
}
]
}
]
},
{
"uniprot_ac": "Q13177",
"gene_name": "PAK2",
"activity": [
{
"ec_number": "2.7.11.1",
"activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].",
"evidence": [
{
"id": "Q13177",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q13177"
}
]
},
{
"ec_number": "2.7.11.1",
"activity": "",
"evidence": [
{
"id": "Q13177",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q13177"
}
]
}
]
},
{
"uniprot_ac": "Q13464",
"gene_name": "ROCK1",
"activity": [
{
"ec_number": "2.7.11.1",
"activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].",
"evidence": [
{
"id": "Q13464",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q13464"
}
]
},
{
"ec_number": "2.7.11.1",
"activity": "",
"evidence": [
{
"id": "Q13464",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q13464"
}
]
}
]
},
{
"uniprot_ac": "Q15118",
"gene_name": "PDK1",
"activity": [
{
"ec_number": "2.7.11.-",
"activity": "",
"evidence": [
{
"id": "Q15118",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q15118"
}
]
},
{
"ec_number": "2.7.11.2",
"activity": "ATP + L-seryl-[pyruvate dehydrogenase E1 alpha subunit] = ADP + H(+) + O-phospho-L-seryl-[pyruvate dehydrogenase E1 alpha subunit].",
"evidence": [
{
"id": "Q15118",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q15118"
}
]
},
{
"ec_number": "2.7.11.2",
"activity": "",
"evidence": [
{
"id": "Q15118",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q15118"
}
]
}
]
},
{
"uniprot_ac": "Q16836",
"gene_name": "HADH",
"activity": [
{
"ec_number": "1.1.1.35",
"activity": "a (3S)-3-hydroxyacyl-CoA + NAD(+) = a 3-oxoacyl-CoA + H(+) + NADH.",
"evidence": [
{
"id": "Q16836",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q16836"
}
]
},
{
"ec_number": "1.1.1.35",
"activity": "",
"evidence": [
{
"id": "Q16836",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q16836"
}
]
}
]
},
{
"uniprot_ac": "Q4G0N4",
"gene_name": "NADK2",
"activity": [
{
"ec_number": "2.7.1.23",
"activity": "ATP + NAD(+) = ADP + H(+) + NADP(+).",
"evidence": [
{
"id": "Q4G0N4",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q4G0N4"
}
]
},
{
"ec_number": "2.7.1.23",
"activity": "",
"evidence": [
{
"id": "Q4G0N4",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q4G0N4"
}
]
}
]
},
{
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"gene_name": "bkdC",
"activity": [
{
"ec_number": "2.3.1.-",
"activity": "",
"evidence": [
{
"id": "Q54TR7",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q54TR7"
}
]
}
]
},
{
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"activity": [
{
"ec_number": "3.1.3.16",
"activity": "H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate.",
"evidence": [
{
"id": "Q8N3J5",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q8N3J5"
}
]
},
{
"ec_number": "3.1.3.52",
"activity": "H2O + O-phospho-L-seryl-[3-methyl-2-oxobutanoate dehydrogenase] = L-seryl-[3-methyl-2-oxobutanoate dehydrogenase] + phosphate.",
"evidence": [
{
"id": "Q8N3J5",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q8N3J5"
}
]
},
{
"ec_number": "3.1.3.16",
"activity": "",
"evidence": [
{
"id": "Q8N3J5",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q8N3J5"
}
]
}
]
},
{
"uniprot_ac": "Q96HY7",
"gene_name": "DHTKD1",
"activity": [
{
"ec_number": "1.2.4.-",
"activity": "",
"evidence": [
{
"id": "Q96HY7",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q96HY7"
}
]
}
]
},
{
"uniprot_ac": "Q96RR1",
"gene_name": "TWNK",
"activity": [
{
"ec_number": "5.6.2.3",
"activity": "Couples ATP hydrolysis with the unwinding of duplex DNA at the replication fork by translocating in the 5'-3' direction. This creates two antiparallel DNA single strands (ssDNA). The leading ssDNA polymer is the template for DNA polymerase III holoenzyme which synthesizes a continuous strand.",
"evidence": [
{
"id": "Q96RR1",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q96RR1"
}
]
},
{
"ec_number": "5.6.2.3",
"activity": "",
"evidence": [
{
"id": "Q96RR1",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q96RR1"
}
]
}
]
},
{
"uniprot_ac": "Q99707",
"gene_name": "MTR",
"activity": [
{
"ec_number": "2.1.1.13",
"activity": "(6S)-5-methyl-5,6,7,8-tetrahydrofolate + L-homocysteine = (6S)-5,6,7,8-tetrahydrofolate + L-methionine.",
"evidence": [
{
"id": "Q99707",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q99707"
}
]
},
{
"ec_number": "2.1.1.13",
"activity": "",
"evidence": [
{
"id": "Q99707",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q99707"
}
]
}
]
},
{
"uniprot_ac": "Q99714",
"gene_name": "HSD17B10",
"activity": [
{
"ec_number": "1.1.1.35",
"activity": "a (3S)-3-hydroxyacyl-CoA + NAD(+) = a 3-oxoacyl-CoA + H(+) + NADH.",
"evidence": [
{
"id": "Q99714",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q99714"
}
]
},
{
"ec_number": "1.1.1.62",
"activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.",
"evidence": [
{
"id": "Q99714",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q99714"
}
]
},
{
"ec_number": "1.1.1.239",
"activity": "NAD(+) + testosterone = androst-4-ene-3,17-dione + H(+) + NADH.",
"evidence": [
{
"id": "Q99714",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q99714"
}
]
},
{
"ec_number": "1.1.1.178",
"activity": "(2S,3S)-3-hydroxy-2-methylbutanoyl-CoA + NAD(+) = 2-methyl-3-oxobutanoyl-CoA + H(+) + NADH.",
"evidence": [
{
"id": "Q99714",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q99714"
}
]
},
{
"ec_number": "1.1.1.53",
"activity": "5alpha-androstane-3alpha,17beta-diol + NAD(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADH.",
"evidence": [
{
"id": "Q99714",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q99714"
}
]
},
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