{
"uniprot_canonical_ac": "P06576-1",
"uniprot_ac": "P06576",
"uniprot_id": "ATPB_HUMAN",
"mass": {
"chemical_mass": 56560.0,
"monoisotopic_mass": 56560.0
},
"refseq": {
"ac": "NP_001677",
"name": "ATP synthase subunit beta, mitochondrial precursor",
"summary": "This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the beta subunit of the catalytic core. [provided by RefSeq, Jul 2008].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001677"
},
"gene_names": [
{
"name": "ATP5F1B",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/P06576",
"id": "P06576"
},
{
"name": "ATP5B; ATPMB; ATPSB; HEL-S-271; HUMOP2",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001677",
"id": "NP_001677"
},
{
"name": "ATP5B",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P06576",
"id": "P06576"
},
{
"name": "ATP5F1B",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001677",
"id": "NP_001677"
},
{
"name": "ATPMB",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P06576",
"id": "P06576"
},
{
"name": "ATPSB",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P06576",
"id": "P06576"
}
],
"protein_names": [
{
"name": "ATP synthase subunit beta, mitochondrial",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "P06576"
},
{
"name": "7.1.2.2",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P06576"
},
{
"name": "ATP synthase F1 subunit beta",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P06576"
},
{
"name": "ATP synthase subunit beta, mitochondrial precursor",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001677",
"id": "NP_001677"
},
{
"name": "mitochondrial ATP synthetase, beta subunit; ATP synthase subunit beta, mitochondrial; epididymis secretory protein Li 271; mitochondrial ATP synthase beta subunit; ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001677",
"id": "NP_001677"
}
],
"function": [
{
"annotation": "Characterization of the interactome of c-Src within the mitochondrial matrix by proximity-dependent biotin identification.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001677",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001677"
},
{
"database": "PubMed",
"id": "33412331",
"url": "https://glygen.org/publication/PubMed/33412331"
}
]
},
{
"annotation": "Congenital Hypermetabolism and Uncoupled Oxidative Phosphorylation.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001677",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001677"
},
{
"database": "PubMed",
"id": "36239646",
"url": "https://glygen.org/publication/PubMed/36239646"
}
]
},
{
"annotation": "Identification and validation of suitable reference genes for quantitative real-time PCR gene expression analysis in pregnant human myometrium.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001677",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001677"
},
{
"database": "PubMed",
"id": "33386589",
"url": "https://glygen.org/publication/PubMed/33386589"
}
]
},
{
"annotation": "Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Subunits alpha and beta form the catalytic core in F(1). Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits.",
"evidence": [
{
"database": "UniProtKB",
"id": "H0YH81",
"url": "https://www.uniprot.org/uniprot/H0YH81#function"
},
{
"database": "UniProtKB",
"id": "ARBA00003086",
"url": "https://www.uniprot.org/uniprot/ARBA00003086#function"
},
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576#function"
},
{
"database": "PubMed",
"id": "25168243",
"url": "https://glygen.org/publication/PubMed/25168243"
},
{
"database": "PubMed",
"id": "36239646",
"url": "https://glygen.org/publication/PubMed/36239646"
}
]
},
{
"annotation": "Produces ATP from ADP in the presence of a proton gradient across the membrane.",
"evidence": [
{
"database": "UniProtKB",
"id": "H0YH81",
"url": "https://www.uniprot.org/uniprot/H0YH81#function"
},
{
"database": "UniProtKB",
"id": "RU003553",
"url": "https://www.uniprot.org/uniprot/RU003553#function"
}
]
},
{
"annotation": "This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the beta subunit of the catalytic core. [provided by RefSeq, Jul 2008].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001677",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001677"
}
]
},
{
"annotation": "Variants in ATP5F1B are associated with dominantly inherited dystonia.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001677",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001677"
},
{
"database": "PubMed",
"id": "36860166",
"url": "https://glygen.org/publication/PubMed/36860166"
}
]
}
],
"disease": [
{
"disease_id": "MONDO:0859302",
"recommended_name": {
"id": "MONDO:0859302",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0859302",
"name": "hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2",
"description": ""
},
"synonyms": [
{
"id": "MIM:620085",
"resource": "MIM",
"url": "https://www.omim.org/entry/620085",
"name": "Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2",
"description": "Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2"
}
],
"evidence": [
{
"id": "620085",
"database": "MIM",
"url": "https://www.omim.org/entry/620085"
}
]
}
],
"snv": [
{
"evidence": [
{
"id": "rs1253905000",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1253905000"
},
{
"id": "rs1253905000",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs1253905000#frequency_tab"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 148,
"end_pos": 148,
"sequence_org": "I",
"sequence_mut": "T",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVI->NVT).",
"chr_id": "12",
"chr_pos": "56644823",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "I148",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs200966693",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200966693"
},
{
"id": "rs200966693",
"database": "1000Genomes",
"url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200966693"
},
{
"id": "rs200966693",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200966693"
},
{
"id": "rs200966693",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs200966693"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 224,
"end_pos": 224,
"sequence_org": "A",
"sequence_mut": "T",
"comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVA->NVT).",
"chr_id": "12",
"chr_pos": "56643525",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "0.0002",
"site_lbl": "A224",
"keywords": [
"ebi",
"somatic"
]
},
{
"evidence": [
{
"id": "P06576",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P06576"
}
],
"glycoeffect": [
"o-glyco-site-loss"
],
"start_pos": 25,
"end_pos": 25,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "S",
"sequence_mut": "L",
"comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
"chr_id": "12",
"chr_pos": "56645890",
"ref_nt": "G",
"alt_nt": "A",
"minor_allelic_frequency": "",
"site_lbl": "S25",
"disease": [
{
"disease_id": "DOID:11054",
"recommended_name": {
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "urinary bladder cancer",
"description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder."
},
"synonyms": [
{
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "bladder cancer",
"description": ""
},
{
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": "A primary or metastatic malignant neoplasm involving the bladder."
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "bladder cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "cancer of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumour",
"description": ""
},
{
"id": "MIM:109800",
"resource": "MIM",
"url": "https://www.omim.org/entry/109800",
"name": "Bladder cancer",
"description": "Bladder cancer"
}
]
},
{
"disease_id": "DOID:4362",
"recommended_name": {
"id": "DOID:4362",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4362",
"name": "cervical cancer",
"description": "A female reproductive organ cancer that is located_in the cervix."
},
"synonyms": [
{
"id": "DOID:4362",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4362",
"name": "cervical neoplasm",
"description": ""
},
{
"id": "DOID:4362",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4362",
"name": "cervix cancer",
"description": ""
},
{
"id": "DOID:4362",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4362",
"name": "cervix uteri cancer",
"description": ""
},
{
"id": "DOID:4362",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4362",
"name": "neoplasm of uterine cervix",
"description": ""
},
{
"id": "DOID:4362",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4362",
"name": "tumor of the Cervix Uteri",
"description": ""
},
{
"id": "DOID:4362",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4362",
"name": "uterine cervical neoplasm",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "cervical cancer",
"description": "A primary or metastatic malignant neoplasm involving the cervix."
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "cervical neoplasm",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "tumor of the cervix uteri",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "tumour of the cervix uteri",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "uterine cervical neoplasm",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "cancer of uterine cervix",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "cervical cancer, somatic",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "cervix cancer",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "cervix uteri cancer",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant cervical neoplasm",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant cervical tumor",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant cervical tumour",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant cervix neoplasm",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant cervix tumor",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant cervix tumour",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant cervix uteri neoplasm",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant cervix uteri tumor",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
"name": "malignant cervix uteri tumour",
"description": ""
},
{
"id": "MONDO:0002974",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0002974",
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "malignant primary brain tumor",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "malignant tumor of Brain",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "malignant tumor of adult brain",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "neoplasm of brain",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "primary brain neoplasm",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "primary brain tumor",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "primary malignant neoplasm of brain",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "tumor of the Brain",
"description": ""
}
]
},
{
"disease_id": "DOID:11934",
"recommended_name": {
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck cancer",
"description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."
},
"synonyms": [
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck neoplasm",
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},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck tumours",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head/neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "tumor of head and neck",
"description": ""
}
]
}
],
"keywords": [
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"somatic",
"cancer",
"disease"
]
}
],
"mutagenesis": [],
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{
"tissue": {
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"id": "0000082",
"url": "http://purl.obolibrary.org/obo/UBERON_0000082"
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{
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"id": "ENSG00000110955",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000110955"
}
]
},
{
"tissue": {
"name": "Oral cavity",
"namespace": "UBERON",
"id": "0000167",
"url": "http://purl.obolibrary.org/obo/UBERON_0000167"
},
"score": "98.77",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000110955",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000110955"
}
]
},
{
"tissue": {
"name": "Stomach",
"namespace": "UBERON",
"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
},
"score": "99.21",
"present": "HIGH",
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{
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"id": "ENSG00000110955",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000110955"
}
]
},
{
"tissue": {
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"id": "0000995",
"url": "http://purl.obolibrary.org/obo/UBERON_0000995"
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"score": "96.69",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000110955",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000110955"
}
]
},
{
"tissue": {
"name": "Esophagus",
"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
},
"score": "99.51",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000110955",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000110955"
}
]
},
{
"tissue": {
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"namespace": "UBERON",
"id": "0001052",
"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
},
"score": "99.73",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000110955",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000110955"
}
]
},
{
"tissue": {
"name": "Colon",
"namespace": "UBERON",
"id": "0001155",
"url": "http://purl.obolibrary.org/obo/UBERON_0001155"
},
"score": "99.39",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000110955",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000110955"
}
]
},
{
"tissue": {
"name": "Urinary bladder",
"namespace": "UBERON",
"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
},
"score": "99.15",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000110955",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000110955"
}
]
},
{
"tissue": {
"name": "Thyroid gland",
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"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "99.41",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000110955",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000110955"
}
]
},
{
"tissue": {
"name": "Lung",
"namespace": "UBERON",
"id": "0002048",
"url": "http://purl.obolibrary.org/obo/UBERON_0002048"
},
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"present": "HIGH",
"evidence": [
{
"database": "Bgee",
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"url": "https://bgee.org/?page=gene&gene_id=ENSG00000110955"
}
]
},
{
"tissue": {
"name": "Liver",
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"id": "0002107",
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"evidence": [
{
"database": "Bgee",
"id": "ENSG00000110955",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000110955"
}
]
},
{
"tissue": {
"name": "Prostate gland",
"namespace": "UBERON",
"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
"score": "99.48",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000110955",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000110955"
}
]
},
{
"tissue": {
"name": "Thoracic mammary gland",
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"id": "0005200",
"url": "http://purl.obolibrary.org/obo/UBERON_0005200"
},
"score": "99.41",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000110955",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000110955"
}
]
}
],
"expression_disease": [
{
"significant": "Yes",
"trend": "up",
"name": "Prostate cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10283",
"evidence": [
{
"database": "BioXpress",
"id": "P06576",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06576"
}
],
"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",
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"description": ""
},
{
"id": "MONDO:0012741",
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"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"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
"id": "P06576",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06576"
}
],
"disease": [
{
"disease_id": "DOID:10534",
"recommended_name": {
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "stomach cancer",
"description": "A gastrointestinal system cancer that is located_in the stomach."
},
"synonyms": [
{
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "gastric cancer",
"description": ""
},
{
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": "A primary or metastatic malignant neoplasm involving the stomach."
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca lesser curvature - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "cancer of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer risk after h. pylori infection",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumor",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumour",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant stomach neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "stomach cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca body - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "ca greater curvature of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, intestinal",
"description": ""
},
{
"id": "MIM:613659",
"resource": "MIM",
"url": "https://www.omim.org/entry/613659",
"name": "Gastric cancer",
"description": "Gastric cancer"
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
"evidence": [
{
"database": "BioXpress",
"id": "P06576",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06576"
}
],
"disease": [
{
"disease_id": "DOID:11054",
"recommended_name": {
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "urinary bladder cancer",
"description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder."
},
"synonyms": [
{
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "bladder cancer",
"description": ""
},
{
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": "A primary or metastatic malignant neoplasm involving the bladder."
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "bladder cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "cancer of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumour",
"description": ""
},
{
"id": "MIM:109800",
"resource": "MIM",
"url": "https://www.omim.org/entry/109800",
"name": "Bladder cancer",
"description": "Bladder cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
"evidence": [
{
"database": "BioXpress",
"id": "P06576",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06576"
}
],
"disease": [
{
"disease_id": "DOID:11934",
"recommended_name": {
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck cancer",
"description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."
},
"synonyms": [
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck tumours",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head/neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "tumor of head and neck",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Lung cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1324",
"evidence": [
{
"database": "BioXpress",
"id": "P06576",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06576"
}
],
"disease": [
{
"disease_id": "DOID:1324",
"recommended_name": {
"id": "DOID:1324",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1324",
"name": "lung cancer",
"description": "A respiratory system cancer that is located_in the lung."
},
"synonyms": [
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "LNCR1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "LNCR3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "adenocarcinoma of lung, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "LNCR4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "LNCR5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": "A malignant neoplasm involving the lung."
},
{
"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",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "cancer of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": ""
},
{
"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",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung neoplasm",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumor",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumour",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of the lung",
"description": ""
},
{
"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": "No",
"trend": "down",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
{
"database": "BioXpress",
"id": "P06576",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06576"
}
],
"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": "No",
"trend": "down",
"name": "Thyroid cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1781",
"evidence": [
{
"database": "BioXpress",
"id": "P06576",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06576"
}
],
"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": "P06576",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06576"
}
],
"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": "No",
"trend": "down",
"name": "Liver cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:3571",
"evidence": [
{
"database": "BioXpress",
"id": "P06576",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06576"
}
],
"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": "Yes",
"trend": "up",
"name": "Uterine cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:363",
"evidence": [
{
"database": "BioXpress",
"id": "P06576",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06576"
}
],
"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": "No",
"trend": "down",
"name": "Esophageal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:5041",
"evidence": [
{
"database": "BioXpress",
"id": "P06576",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06576"
}
],
"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",
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{
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{
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{
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],
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"length": 529,
"header": "sp|P06576-1|ATPB_HUMAN Isoform 1 of ATP synthase subunit beta, mitochondrial OS=Homo sapiens OX=9606 GN=ATP5F1B PE=1 SV=3 CANONICAL=P06576-1"
},
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"header": "tr|F8W079-1|ATPB_HUMAN Computationally mapped isoform of ATP synthase subunit beta, mitochondrial OS=Homo sapiens OX=9606 GN=ATP5F1B PE=1 SV=1 CANONICAL=P06576-1"
},
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},
{
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"header": "tr|F8W0P7-1|F8W0P7_HUMAN Computationally mapped isoform of ATP synthase subunit beta, mitochondrial OS=Homo sapiens OX=9606 GN=ATP5F1B PE=1 SV=2 CANONICAL=P06576-1"
},
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{
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"sequence": {
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"length": 362,
"header": "tr|H0YH81-1|ATPB_HUMAN Computationally mapped isoform of ATP synthase subunit beta, mitochondrial OS=Homo sapiens OX=9606 GN=ATP5F1B PE=1 SV=1 CANONICAL=P06576-1"
},
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"url": "https://www.ensembl.org/id/ENST00000552959.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000446489.1",
"url": "https://www.ensembl.org/id/ENSP00000446489.1"
}
]
}
},
{
"isoform_ac": "H0YI37-1",
"url": "",
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"length": 133,
"header": "tr|H0YI37-1|ATPB_HUMAN Computationally mapped isoform of ATP synthase subunit beta, mitochondrial OS=Homo sapiens OX=9606 GN=ATP5F1B PE=1 SV=1 CANONICAL=P06576-1"
},
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"url": "https://www.ensembl.org/id/ENST00000551570.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000448428.1",
"url": "https://www.ensembl.org/id/ENSP00000448428.1"
}
]
}
},
{
"isoform_ac": "P06576-1",
"url": "",
"sequence": {
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"length": 529,
"header": "sp|P06576-1|ATPB_HUMAN Isoform 1 of ATP synthase subunit beta, mitochondrial OS=Homo sapiens OX=9606 GN=ATP5F1B PE=1 SV=3 CANONICAL=P06576-1"
},
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"database": "Ensembl Transcript",
"id": "ENST00000262030.8",
"url": "https://www.ensembl.org/id/ENST00000262030.8"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000262030.3",
"url": "https://www.ensembl.org/id/ENSP00000262030.3"
}
]
}
}
],
"glycosylation": [
{
"glytoucan_ac": "",
"type": "O-linked",
"subtype": "O-GlcNAcylation",
"site_category": "predicted",
"site_seq": "S",
"relation": "attached",
"comment": "O-linked (GlcNAc) serine O-GlcNAcylation",
"start_pos": 106,
"start_aa": "Ser",
"end_pos": 106,
"end_aa": "Ser",
"residue": "Ser",
"site_lbl": "Ser106",
"evidence": [
{
"id": "P06576",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P06576#ptm_processing"
}
]
},
{
"glytoucan_ac": "G49108TO",
"type": "O-linked",
"subtype": "O-GlcNAcylation",
"site_category": "reported_with_glycan",
"site_seq": "S",
"relation": "attached",
"comment": "O-GlcNAcylation",
"start_pos": 327,
"start_aa": "Ser",
"end_pos": 327,
"end_aa": "Ser",
"residue": "Ser",
"site_lbl": "Ser327",
"evidence": [
{
"id": "P06576",
"database": "O-GlcNAc Database",
"url": "https://www.oglcnac.mcw.edu/search/?query_protein=P06576"
},
{
"id": "23271734",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/23271734"
},
{
"id": "33214551",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/33214551"
},
{
"id": "30444036",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/30444036"
},
{
"id": "30397120",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/30397120"
},
{
"id": "26374642",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/26374642"
},
{
"id": "34725712",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/34725712"
},
{
"id": "37217939",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/37217939"
},
{
"id": "29351928",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/29351928"
},
{
"id": "34019948",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/34019948"
},
{
"id": "35083852",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/35083852"
},
{
"id": "32119511",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/32119511"
},
{
"id": "P06576",
"database": "O-GlcNAc Atlas",
"url": "https://oglcnac.org/atlas/detail/P06576"
}
]
}
],
"phosphorylation": [
{
"start_pos": 128,
"end_pos": 128,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P06576",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06576"
},
{
"database": "PubMed",
"id": "20068231",
"url": "https://glygen.org/publication/PubMed/20068231"
}
],
"site_lbl": "Ser128"
},
{
"start_pos": 21,
"end_pos": 21,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Thr",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P06576",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06576"
},
{
"database": "PubMed",
"id": "20068231",
"url": "https://glygen.org/publication/PubMed/20068231"
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"sequence": "MLSLVGRVASASASGALRGLNPLAALPQAHLLLRTAPAGVHPARDYAAQSSAAPKAGTATGQIVAVIGAVVDVQFDEGLPPILNALEVQGRESRLVLEVAQHLGESTVRTIAMDGTEGLVRGQKVLDSGAPIKIPVGPETLGRIMNVIGEPIDERGPIKTKQFAPIHAEAPEFIEMSVEQEILVTGIKVVDLLAPYAKGGKIGLFGGAGVGKTVLIMELINNVAKAHGGYSVFAGVGERTREGNDLYHEMIESGVINLKDATSKVALVYGQMNEPPGARARVALTGLTVAEYFRDQEGQDVLLFIDNIFRFTQAGSEVSALLGRIPSAVGYQPTLATDMGTMQERITTTKKGSITSVQAIYVPADDLTDPAPATTFAHLDATTVLSRAIAELGIYPAVDPLDSTSRIMDPNIVGSEHYDVARGVQKILQDYKSLQDIIAILGMDELSEEDKLTVSRARKIQRFLSQPFQVAEVFTGHMGKLVPLKETIKGFQQILAGDYDHLPEQAFYMVGPIEEAVAKADKLAEEHGS",
"length": 529
},
"evidence": [
{
"id": "45931355",
"url": "http://www.informatics.jax.org/homology/45931355",
"database": "MGI"
}
],
"common_name": "Rat"
},
{
"uniprot_canonical_ac": "P56480-1",
"protein_name": "ATP synthase subunit beta, mitochondrial",
"gene_name": "Atp5f1b",
"tax_id": 10090,
"organism": "Mus musculus",
"sequence": {
"sequence": "MLSLVGRVASASASGALRGLSPSAALPQAQLLLRAAPAGVHPARDYAAQASAAPKAGTATGRIVAVIGAVVDVQFDEGLPPILNALEVQGRDSRLVLEVAQHLGESTVRTIAMDGTEGLVRGQKVLDSGAPIKIPVGPETLGRIMNVIGEPIDERGPIKTKQFAPIHAEAPEFIEMSVEQEILVTGIKVVDLLAPYAKGGKIGLFGGAGVGKTVLIMELINNVAKAHGGYSVFAGVGERTREGNDLYHEMIESGVINLKDATSKVALVYGQMNEPPGARARVALTGLTVAEYFRDQEGQDVLLFIDNIFRFTQAGSEVSALLGRIPSAVGYQPTLATDMGTMQERITTTKKGSITSVQAIYVPADDLTDPAPATTFAHLDATTVLSRAIAELGIYPAVDPLDSTSRIMDPNIVGNEHYDVARGVQKILQDYKSLQDIIAILGMDELSEEDKLTVSRARKIQRFLSQPFQVAEVFTGHMGKLVPLKETIKGFQQILAGEYDHLPEQAFYMVGPIEEAVAKADKLAEEHGS",
"length": 529
},
"evidence": [
{
"id": "45931355",
"url": "http://www.informatics.jax.org/homology/45931355",
"database": "MGI"
}
],
"common_name": "Mouse"
}
],
"go_annotation": {
"categories": [
{
"name": "Biological Process",
"total": 13,
"go_terms": [
{
"name": "angiogenesis",
"id": "GO:0001525",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
},
{
"name": "generation of precursor metabolites and energy",
"id": "GO:0006091",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006091",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
},
{
"name": "lipid metabolic process",
"id": "GO:0006629",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
},
{
"name": "ATP biosynthetic process",
"id": "GO:0006754",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006754",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
},
{
"name": "positive regulation of blood vessel endothelial cell migration",
"id": "GO:0043536",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043536",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
},
{
"name": "osteoblast differentiation",
"id": "GO:0001649",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
},
{
"name": "proton motive force-driven ATP synthesis",
"id": "GO:0015986",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015986",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
},
{
"name": "proton motive force-driven mitochondrial ATP synthesis",
"id": "GO:0042776",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042776",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
},
{
"name": "regulation of intracellular pH",
"id": "GO:0051453",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051453",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
},
{
"name": "negative regulation of cell adhesion involved in substrate-bound cell migration",
"id": "GO:0006933",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006933",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
},
{
"name": "cellular response to interleukin-7",
"id": "GO:0098761",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098761",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
},
{
"name": "proton transmembrane transport",
"id": "GO:1902600",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902600",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
},
{
"name": "ATP metabolic process",
"id": "GO:0046034",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046034",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
}
]
},
{
"name": "Molecular Function",
"total": 6,
"go_terms": [
{
"name": "ATP binding",
"id": "GO:0005524",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
},
{
"name": "ATP hydrolysis activity",
"id": "GO:0016887",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
},
{
"name": "angiostatin binding",
"id": "GO:0043532",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043532",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
},
{
"name": "proton-transporting ATP synthase activity, rotational mechanism",
"id": "GO:0046933",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046933",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
},
{
"name": "MHC class I protein binding",
"id": "GO:0042288",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042288",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
},
{
"name": "proton-transporting ATPase activity, rotational mechanism",
"id": "GO:0046961",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046961",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
}
]
},
{
"name": "Cellular Component",
"total": 16,
"go_terms": [
{
"name": "nucleus",
"id": "GO:0005634",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
},
{
"name": "mitochondrion",
"id": "GO:0005739",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
},
{
"name": "mitochondrial inner membrane",
"id": "GO:0005743",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
},
{
"name": "mitochondrial matrix",
"id": "GO:0005759",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
},
{
"name": "plasma membrane",
"id": "GO:0005886",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
},
{
"name": "cell surface",
"id": "GO:0009986",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
},
{
"name": "membrane",
"id": "GO:0016020",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
},
{
"name": "mitochondrial membrane",
"id": "GO:0031966",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
},
{
"name": "mitochondrial nucleoid",
"id": "GO:0042645",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042645",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
},
{
"name": "extracellular exosome",
"id": "GO:0070062",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
},
{
"name": "mitochondrial proton-transporting ATP synthase complex",
"id": "GO:0005753",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005753",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
},
{
"name": "proton-transporting ATP synthase complex",
"id": "GO:0045259",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045259",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
},
{
"name": "proton-transporting ATP synthase complex, catalytic core F(1)",
"id": "GO:0045261",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045261",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
},
{
"name": "mitochondrial proton-transporting ATP synthase, catalytic core",
"id": "GO:0005754",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005754",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
},
{
"name": "proton-transporting two-sector ATPase complex",
"id": "GO:0016469",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016469",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
},
{
"name": "cytoplasm",
"id": "GO:0005737",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737",
"evidence": [
{
"database": "UniProtKB",
"id": "P06576",
"url": "https://www.uniprot.org/uniprot/P06576"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [],
"site_annotation": [],
"ptm_annotation": [],
"interactions": [],
"reactions": [
{
"id": "57720",
"name": "",
"equation": "ATP + 4 H(+)(in) + H2O = ADP + 5 H(+)(out) + phosphate",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P10719-1",
"A0A1W2Q641-1",
"P06576-1",
"P38606-1",
"P56480-1",
"P50516-1",
"P17255-1",
"P00830-1",
"P54647-1",
"Q55CS9-1",
"Q27331-1",
"P48602-1",
"Q05825-1",
"Q9VK47-1",
"Q8T4C4-1"
],
"evidence": [
{
"id": "57720",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/57720"
}
]
},
{
"id": "R-HSA-1268022",
"name": "TOMM40 complex translocates proteins from the cytosol to the mitochondrial intermembrane space",
"equation": "",
"summary": "As inferred from the yeast TOM40:TOM70 complex, the human TOMM40:TOMM70 complex transports precursor proteins from the cytosol, across the outer membrane of the mitochondrion, and into the intermembrane space from where they may be targeted to all locations within the mitochondrion. As inferred from yeast, TOMM40, TOMM22, TOMM5, TOMM6, and TOMM7 probably form the general import pore across the membrane. On the cytosolic side TOMM20 and TOMM22 interact with presequences on mitochondrial precursors while TOMM70 interacts with hydrophobic sequences in mature internal regions of mitochondrial proteins.
In yeast, experimentally verified substrates of the TOM40:TOM70 complex include ATP1 (ATP5A1 in human), ATP2 (ATP5B in human), ATP9 (ATP5G1 in human), TOM40 (TOMM40 in human), SSC1 (mtHsp70, HSPA9 in human), CIT1 (CS in human), ACO1 (ACO2 in human), IDH1 (IDH3G in human), BCS1 (BCS1L in human), CYT1 (CYC1 in human), TIM54 (TIMM54 in human), TIM22 (TIMM22 in human), AAC (ADP/ATP translocase 1, ANT, SLC25A4 in human), HSP60, and CYB2. In humans, TOMM40 has been shown to be a substrate (Humphries et al. 2005). In yeast some proteins such as ACO1, ATP1, CIT1, IDH1, and ATP2 contain both presequences that interact with TOM20 and mature regions that interact with TOM70 (Yamamoto et al. 2009). Most proteins imported into mitochondria are anticipated to be transported through the TOMM40:TOMM70 complex.",
"cellular_location": "cytosol, mitochondrial intermembrane space, mitochondrial outer membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O75390-1",
"Q99798-1",
"P06576-1",
"P08574-1",
"P10809-1"
],
"evidence": [
{
"id": "R-HSA-1268022",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268022"
}
]
},
{
"id": "R-HSA-1299476",
"name": "MPP cleaves targeting peptide (presequence) of inner membrane precursors",
"equation": "",
"summary": "As inferred from yeast, the alpha subunit of the mitochondrial processing peptidase (MPP) binds presequences of mitochondrial precursors and the beta subunit cleaves the presequence. After cleavage, proteins destined for the inner membrane are released laterally from TIMM23 SORT into the membrane.",
"cellular_location": "mitochondrial inner membrane, mitochondrial matrix",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P06576-1",
"Q96H96-1",
"O75439-1",
"Q86WU2-1"
],
"evidence": [
{
"id": "R-HSA-1299476",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1299476"
}
]
},
{
"id": "R-HSA-1299482",
"name": "TIMM23 SORT inserts proteins into inner membrane",
"equation": "",
"summary": "As inferred from the yeast TIM23 complex, the human TIMM23 complex resides in the inner membrane of the mitochondrion and transfers precursor proteins to the inner membrane. The presequences of proteins targeted to the inner membrane are transferred to the matrix where they are cleaved. Sequences in the mature regions of the proteins then interact with the TIMM23 complex to halt transfer across the inner membrane and the proteins are released laterally into the inner membrane. TIMM21 is required.
In yeast experimentally verified substrates of the TIM23 complex targeted to the inner membrane include CYB2, DLD (LDHD in human), ATP9 (ATP5G1 in human), COQ2, TIM54 (TIMM54 in human), COX4, COX5A, and ATP2 (ATP5B in human). Many other inner membrane proteins are believed to be substrates of the TIMM23 complex.",
"cellular_location": "mitochondrial inner membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P06576-1",
"Q96H96-1",
"Q86WU2-1"
],
"evidence": [
{
"id": "R-HSA-1299482",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1299482"
}
]
},
{
"id": "R-HSA-1299487",
"name": "Precursor proteins enter TIMM23 SORT",
"equation": "",
"summary": "As inferred from the yeast TIM23 complex, the human TIMM23 complex resides in the inner membrane of the mitochondrion and transfers precursor proteins to the inner membrane. The TIMM23 complex appears to adopt different configurations (and perhaps different subunit compositions) depending on whether the substrate is destined for the inner membrane or the matrix. Here we refer to the TIMM23 SORT complex as the configuration that delivers inner membrane proteins. The TIMM21 subunit is required for this activity. In yeast, the N-terminal presequences of precursors first interact with TIM50 and TIM23 (TIMM50 and TIMM23 in human, Zhang et al. 2013). The TIM17 and TIM23 subunits (TIMM17 and TIMM23 in human) form a channel and are required to initiate translocation of precursors.
In yeast experimentally verified substrates of the TIM23 SORT complex targeted to the inner membrane include CYB2, DLD (LDHD in human), ATP9 (ATP5G1 in human), COQ2, TIM54 (TIMM54 in human), COX4, COX5A, and ATP2 (ATP5B in human). Many other inner membrane proteins are believed to be substrates of the TIMM23 complex.",
"cellular_location": "mitochondrial inner membrane, mitochondrial intermembrane space",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P06576-1",
"Q96H96-1",
"Q86WU2-1"
],
"evidence": [
{
"id": "R-HSA-1299487",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1299487"
}
]
},
{
"id": "R-HSA-1592247",
"name": "Expression of ATP5B",
"equation": "",
"summary": "The ATP5B (ATP synthase beta subunit) gene is transcribed in the nucleus to yield mRNA and the mRNA is translated in the cytosol to yield the ATP5B precursor, which is then imported into the mitochondrial matrix. ATP5B is a peripheral membrane protein located at the matrix face of the inner membrane within the ATP synthase complex (reviewed in Leyva et al. 2003).",
"cellular_location": "mitochondrial matrix, nucleoplasm",
"input_participant_list": [
"R-HSA-2466389"
],
"output_participant_list": [
"R-HSA-164576"
],
"enzyme_list": [
"P06576-1"
],
"evidence": [
{
"id": "R-HSA-1592247",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1592247"
}
]
},
{
"id": "R-HSA-164832",
"name": "ATPase synthesizes ATP",
"equation": "",
"summary": "In the tight configuration, the beta subunit catalyzes the reaction of ADP + Pi to ATP + water. ATP is still tightly bound to the subunit at this stage.",
"cellular_location": "mitochondrial inner membrane, mitochondrial matrix",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P06576-1"
],
"evidence": [
{
"id": "R-HSA-164832",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-164832"
}
]
},
{
"id": "R-HSA-164834",
"name": "Enzyme-bound ATP is released",
"equation": "",
"summary": "In the last step, the beta subunit is converted to the open form and ATP is released. Passage of protons through the Fo part causes a ring of approximately 10 subunits to rotate. This rotation in turn drives the rotation of the gamma subunits, which forms part of one of the stalks. The gamma subunit moves between the three beta subunits which are held in place by the second stalk which can be regarded as a stator. The polypeptide called OSCP connects the stator stalk to the assembly of alpha and beta subunits. It is this step that is coupled to proton translocation as energy is required to break the strong bond between ATP and the protein.",
"cellular_location": "mitochondrial matrix",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P06576-1"
],
"evidence": [
{
"id": "R-HSA-164834",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-164834"
}
]
},
{
"id": "R-HSA-164840",
"name": "ADP and Pi bind to ATPase",
"equation": "",
"summary": "The beta subunit has 3 conformations; tight, open and loose. ADP and Pi bind to the subunit in the loose form. On binding, this subunit is converted to the tight configuration.",
"cellular_location": "mitochondrial inner membrane, mitochondrial matrix",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P06576-1"
],
"evidence": [
{
"id": "R-HSA-164840",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-164840"
}
]
},
{
"id": "R-HSA-8949580",
"name": "F1Fo ATP synthase dimerizes",
"equation": "",
"summary": "At the inner mitochondrial membrane, an F1Fo ATP synthase complex binds another F1Fo ATP synthase complex to form a dimer that causes curvature of the inner mitochondrial membrane at internal regions of cristae (Habersetzer et al. 2013, inferred from bovine homologs in Strauss et al. 2008, Davies et al. 2011, Davies et al. 2012, inferred from yeast homologs in Arnold et al. 1998, Couoh-Cardel et al. 2010). The dimers are observed in rows along the highly curved apices of cristae (inferred from bovine homologs in Davies et al. 2014).",
"cellular_location": "mitochondrial inner membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P06576-1"
],
"evidence": [
{
"id": "R-HSA-8949580",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8949580"
}
]
},
{
"id": "R-HSA-8986181",
"name": "PITRM1 proteolyzes mitochondrial targeting peptides (presequences)",
"equation": "",
"summary": "After MPP cleaves off targeting peptides (also called presequences) of proteins imported into the mitochondrial matrix, PITRM1 (also called PreP) proteolyzes the cleaved targeting peptides (Pinho et al. 2010, Alikhani et al. 2011, Teixeira et al. 2012). PITRM1 also cleaves amyloid beta peptide that is imported into the matrix (Falkevall et al. 2006). Missense mutations in PITRM1 are associated with a neurological syndrome comprising mental retardation, spinocerebellar ataxia, cognitive decline, psychosis and possible epilepsy (Brunetti et al. 2016).",
"cellular_location": "mitochondrial matrix",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P00480-1",
"P06576-1",
"Q96H96-1",
"Q16595-1",
"P10809-1",
"Q86WU2-1",
"Q5JRX3-1"
],
"evidence": [
{
"id": "R-HSA-8986181",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8986181"
}
]
},
{
"id": "R-HSA-9838035",
"name": "CLPXP binds mitochondrial matrix proteins",
"equation": "",
"summary": "The CLPXP complex is an ATP-dependent protease located in the mitochondrial matrix that binds, unfolds, and degrades a specific set of protein substrates. The CLPXP complex comprises two heptameric rings of CLPP protease subunits and two hexameric rings of CLPX ATPase subunits (Kang et al. 2002, 2005). Upon binding the CLPXP complex, substrate proteins are unfolded by CLPX in an ATP-dependent reaction and translocated to the CLPP protease (reviewed in Baker and Sauer 2012, Liu et al. 2014). The CLPXP complex interacts with more than 200 mitochondrial proteins (Cole et al. 2015, Ishizawa et al. 2019, Mabanglo et al. 2022) and degrades several mitochondrial matrix proteins (Lee et al. 2021, Key et al. 2021), including ERAL1, a putative 12S rRNA chaperone (inferred from mouse homologs in Szczepanowska et al. 2016, Key et al. 2022) and heme-bound ALAS1 (Kubota et al. 2016, Nomura et al. 2021). CLPXP can also regulate proteins involved in bioenergetics such as components of the electron transport chain suggesting that it can regulate proteins in the inner mitochondrial membrane (Seo et al. 2016, Ishizawa et al. 2019, Mabanglo et al. 2022). CLPXP is also thought to be involved in the mitochondrial unfolded protein response (inferred from C. elegans homologs in Haynes et al. 2007 and mouse homologs in Lian et al. 2023).",
"cellular_location": "mitochondrial matrix",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O75390-1",
"Q96I99-1",
"P28331-1",
"Q02218-1",
"P48735-1",
"P07954-1",
"O75489-1",
"P49753-1",
"Q99798-1",
"P06576-1",
"Q9UKU7-1",
"P30837-1",
"P05091-1",
"P78540-1",
"Q16740-1",
"P22830-1",
"Q9NWU1-1",
"P55809-1",
"P09622-1",
"P42126-1",
"Q13011-1",
"P10809-1",
"P13196-1",
"Q02338-1",
"P08559-1",
"P11177-1",
"P24752-1",
"P40926-1",
"P50213-1",
"P23368-1",
"Q16836-1",
"Q15118-1"
],
"evidence": [
{
"id": "R-HSA-9838035",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9838035"
}
]
},
{
"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"
}
]
},
{
"id": "R-HSA-9838289",
"name": "CLPXP degrades mitochondrial matrix proteins",
"equation": "",
"summary": "The CLPXP complex comprises two heptameric rings of the barrel-shaped CLPP protease and two hexameric rings of the AAA+ CLPX ATPase (Kang et al. 2002, 2005). Though isolated CLPP subunits have peptidase activity, they only have significant protease activity when complexed with CLPX (Kang et al. 2005). The CLPX subunit unfolds proteins so they can enter the axial pore of the CLPP protease (reviewed in Baker and Sauer 2012, Liu et al. 2014). The CLPXP complex binds and degrades several mitochondrial matrix proteins (Lee et al. 2021, Key et al. 2021), including ALAS1 bound to heme (Kubota et al. 2016, Nomura et al. 2021). CLPXP can also regulate proteins involved in bioenergetics such as components of the electron transport chain suggesting that it can regulate proteins in the inner mitochondrial membrane (Seo et al. 2016, Ishizawa et al. 2019, Mabanglo et al. 2022). CLPXP is thought to be involved in the mitochondrial unfolded protein response (inferred from C. elegans homologs in Haynes et al. 2007 and mouse homologs in Lian et al. 2023). Peptides produced by CLPXP are transported from the mitochondria into the cytosol and activate ATF5 (ATFS-1 in C. elegans). ATF5 subsequently translocates to the nucleus where it enhances the expression of mitochondrial proteases (CLPP and LONP1) and chaperones (HSP60 and GRP75) to restore proteostasis (inferred from C. elegans homologs in Haynes et al. 2010, inferred from mouse homologs in Deepa et al. 2016, Fiorese et al. 2016, inferred from rat homologs in Lian et al. 2023). Recessive mutations in the CLPP subunit of the CLPXP complex cause Perreault Syndrome, which is characterized by congenital sensorineural loss, ataxia, azoospermia (male infertility), ovarian failure, psychomotor retardation, ataxia, autism and epilepsy (Jenkinson et al. 2013, Demain et al. 2017, Faridi et al. 2022).",
"cellular_location": "mitochondrial matrix",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O75390-1",
"Q96I99-1",
"P28331-1",
"Q02218-1",
"P48735-1",
"P07954-1",
"O75489-1",
"P49753-1",
"Q99798-1",
"P06576-1",
"Q9UKU7-1",
"P30837-1",
"P05091-1",
"P78540-1",
"Q16740-1",
"P22830-1",
"Q9NWU1-1",
"P55809-1",
"P09622-1",
"P42126-1",
"Q13011-1",
"P10809-1",
"P13196-1",
"Q02338-1",
"P08559-1",
"P11177-1",
"P24752-1",
"P40926-1",
"P50213-1",
"P23368-1",
"Q16836-1",
"Q15118-1"
],
"evidence": [
{
"id": "R-HSA-9838289",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9838289"
}
]
}
],
"reaction_participants": [
{
"participant_id": "R-HSA-164576",
"participant_name": "ATP5B [mitochondrial matrix]",
"crossref": [
{
"id": "P06576",
"database": "PRO",
"url": ""
},
{
"id": "8H9E",
"database": "PDB",
"url": ""
},
{
"id": "P06576",
"database": "UniProt",
"url": ""
},
{
"id": "ENST00000262030",
"database": "Ensembl",
"url": ""
},
{
"id": "8H9V",
"database": "PDB",
"url": ""
},
{
"id": "8H9S",
"database": "PDB",
"url": ""
},
{
"id": "ENSG00000110955-ATP5F1B",
"database": "HPA",
"url": ""
},
{
"id": "ENSP00000262030",
"database": "Ensembl",
"url": ""
},
{
"id": "P06576",
"database": "Pharos - Targets",
"url": ""
},
{
"id": "8H9I",
"database": "PDB",
"url": ""
},
{
"id": "8H9P",
"database": "PDB",
"url": ""
},
{
"id": "NP_001677.2",
"database": "RefSeq",
"url": ""
},
{
"id": "797",
"database": "Guide to Pharmacology - Targets",
"url": ""
},
{
"id": "8H9U",
"database": "PDB",
"url": ""
},
{
"id": "ENSG00000110955",
"database": "OpenTargets",
"url": ""
},
{
"id": "P06576",
"database": "GeneCards",
"url": ""
},
{
"id": "8H9T",
"database": "PDB",
"url": ""
},
{
"id": "HMDBP01465",
"database": "HMDB Protein",
"url": ""
},
{
"id": "7.1.2.2",
"database": "IntEnz",
"url": ""
},
{
"id": "ENSG00000110955",
"database": "Ensembl",
"url": ""
},
{
"id": "8H9L",
"database": "PDB",
"url": ""
}
]
},
{
"participant_id": "R-HSA-2466389",
"participant_name": "ATP5B gene [nucleoplasm]",
"crossref": [
{
"id": "ENSG00000110955",
"database": "ENSEMBL",
"url": ""
}
]
}
],
"reaction_enzymes": [
{
"uniprot_ac": "A0A1W2Q641",
"gene_name": "Atp6v1a",
"activity": [
{
"ec_number": "7.1.2.2",
"activity": "ATP + 4 H(+)(in) + H2O = ADP + 5 H(+)(out) + phosphate.",
"evidence": [
{
"id": "A0A1W2Q641",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A1W2Q641"
}
]
},
{
"ec_number": "7.1.2.2",
"activity": "",
"evidence": [
{
"id": "A0A1W2Q641",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A1W2Q641"
}
]
}
]
},
{
"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": "O75439",
"gene_name": "PMPCB",
"activity": [
{
"ec_number": "3.4.24.64",
"activity": "Release of N-terminal transit peptides from precursor proteins imported into the mitochondrion, typically with Arg in position P2.",
"evidence": [
{
"id": "O75439",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O75439"
}
]
},
{
"ec_number": "3.4.24.64",
"activity": "",
"evidence": [
{
"id": "O75439",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O75439"
}
]
}
]
},
{
"uniprot_ac": "O75489",
"gene_name": "NDUFS3",
"activity": [
{
"ec_number": "7.1.1.2",
"activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).",
"evidence": [
{
"id": "O75489",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O75489"
}
]
},
{
"ec_number": "7.1.1.2",
"activity": "",
"evidence": [
{
"id": "O75489",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O75489"
}
]
}
]
},
{
"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": "P00480",
"gene_name": "OTC",
"activity": [
{
"ec_number": "2.1.3.3",
"activity": "carbamoyl phosphate + L-ornithine = H(+) + L-citrulline + phosphate.",
"evidence": [
{
"id": "P00480",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00480"
}
]
},
{
"ec_number": "2.1.3.3",
"activity": "",
"evidence": [
{
"id": "P00480",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00480"
}
]
}
]
},
{
"uniprot_ac": "P00830",
"gene_name": "ATP2",
"activity": [
{
"ec_number": "7.1.2.2",
"activity": "ATP + 4 H(+)(in) + H2O = ADP + 5 H(+)(out) + phosphate.",
"evidence": [
{
"id": "P00830",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00830"
}
]
},
{
"ec_number": "7.1.2.2",
"activity": "",
"evidence": [
{
"id": "P00830",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00830"
}
]
}
]
},
{
"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": "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": "P08574",
"gene_name": "CYC1",
"activity": [
{
"ec_number": "7.1.1.8",
"activity": "a quinol + 2 Fe(III)-[cytochrome c](out) = a quinone + 2 Fe(II)-[cytochrome c](out) + 2 H(+)(out).",
"evidence": [
{
"id": "P08574",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P08574"
}
]
},
{
"ec_number": "7.1.1.8",
"activity": "",
"evidence": [
{
"id": "P08574",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P08574"
}
]
}
]
},
{
"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": "P10719",
"gene_name": "Atp5f1b",
"activity": [
{
"ec_number": "7.1.2.2",
"activity": "ATP + 4 H(+)(in) + H2O = ADP + 5 H(+)(out) + phosphate.",
"evidence": [
{
"id": "P10719",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P10719"
}
]
},
{
"ec_number": "7.1.2.2",
"activity": "",
"evidence": [
{
"id": "P10719",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P10719"
}
]
}
]
},
{
"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": "P13196",
"gene_name": "ALAS1",
"activity": [
{
"ec_number": "2.3.1.37",
"activity": "glycine + H(+) + succinyl-CoA = 5-aminolevulinate + CO2 + CoA.",
"evidence": [
{
"id": "P13196",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P13196"
}
]
},
{
"ec_number": "2.3.1.37",
"activity": "",
"evidence": [
{
"id": "P13196",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P13196"
}
]
}
]
},
{
"uniprot_ac": "P17255",
"gene_name": "VMA1",
"activity": [
{
"ec_number": "3.1.-.-",
"activity": "",
"evidence": [
{
"id": "P17255",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P17255"
}
]
},
{
"ec_number": "7.1.2.2",
"activity": "ATP + 4 H(+)(in) + H2O = ADP + 5 H(+)(out) + phosphate.",
"evidence": [
{
"id": "P17255",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P17255"
}
]
},
{
"ec_number": "7.1.2.2",
"activity": "",
"evidence": [
{
"id": "P17255",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P17255"
}
]
}
]
},
{
"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"
}
]
}
]
},
{
"uniprot_ac": "P30837",
"gene_name": "ALDH1B1",
"activity": [
{
"ec_number": "1.2.1.3",
"activity": "an aldehyde + H2O + NAD(+) = a carboxylate + 2 H(+) + NADH.",
"evidence": [
{
"id": "P30837",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P30837"
}
]
},
{
"ec_number": "1.2.1.3",
"activity": "",
"evidence": [
{
"id": "P30837",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P30837"
}
]
}
]
},
{
"uniprot_ac": "P36776",
"gene_name": "LONP1",
"activity": [
{
"ec_number": "3.4.21.53",
"activity": "Hydrolysis of proteins in presence of ATP.",
"evidence": [
{
"id": "P36776",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P36776"
}
]
},
{
"ec_number": "3.4.21.53",
"activity": "",
"evidence": [
{
"id": "P36776",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P36776"
}
]
}
]
},
{
"uniprot_ac": "P38606",
"gene_name": "ATP6V1A",
"activity": [
{
"ec_number": "7.1.2.2",
"activity": "ATP + 4 H(+)(in) + H2O = ADP + 5 H(+)(out) + phosphate.",
"evidence": [
{
"id": "P38606",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P38606"
}
]
},
{
"ec_number": "7.1.2.2",
"activity": "",
"evidence": [
{
"id": "P38606",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P38606"
}
]
}
]
},
{
"uniprot_ac": "P40926",
"gene_name": "MDH2",
"activity": [
{
"ec_number": "1.1.1.37",
"activity": "(S)-malate + NAD(+) = H(+) + NADH + oxaloacetate.",
"evidence": [
{
"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"
}
]
}
]
},
{
"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": "P45954",
"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"
}
]
}
]
},
{
"uniprot_ac": "P48602",
"gene_name": "Vha68-1",
"activity": [
{
"ec_number": "7.1.2.2",
"activity": "ATP + 4 H(+)(in) + H2O = ADP + 5 H(+)(out) + phosphate.",
"evidence": [
{
"id": "P48602",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P48602"
}
]
},
{
"ec_number": "7.1.2.2",
"activity": "",
"evidence": [
{
"id": "P48602",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P48602"
}
]
}
]
},
{
"uniprot_ac": "P48735",
"gene_name": "IDH2",
"activity": [
{
"ec_number": "1.1.1.42",
"activity": "D-threo-isocitrate + NADP(+) = 2-oxoglutarate + CO2 + NADPH.",
"evidence": [
{
"id": "P48735",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P48735"
}
]
},
{
"ec_number": "1.1.1.42",
"activity": "",
"evidence": [
{
"id": "P48735",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P48735"
}
]
}
]
},
{
"uniprot_ac": "P49753",
"gene_name": "ACOT2",
"activity": [
{
"ec_number": "3.1.2.2",
"activity": "H2O + hexadecanoyl-CoA = CoA + H(+) + hexadecanoate.",
"evidence": [
{
"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"
}
]
}
]
},
{
"uniprot_ac": "P50213",
"gene_name": "IDH3A",
"activity": [
{
"ec_number": "1.1.1.41",
"activity": "D-threo-isocitrate + NAD(+) = 2-oxoglutarate + CO2 + NADH.",
"evidence": [
{
"id": "P50213",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P50213"
}
]
},
{
"ec_number": "1.1.1.41",
"activity": "",
"evidence": [
{
"id": "P50213",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P50213"
}
]
}
]
},
{
"uniprot_ac": "P50516",
"gene_name": "Atp6v1a",
"activity": [
{
"ec_number": "7.1.2.2",
"activity": "ATP + 4 H(+)(in) + H2O = ADP + 5 H(+)(out) + phosphate.",
"evidence": [
{
"id": "P50516",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P50516"
}
]
},
{
"ec_number": "7.1.2.2",
"activity": "",
"evidence": [
{
"id": "P50516",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P50516"
}
]
}
]
},
{
"uniprot_ac": "P54647",
"gene_name": "vatA",
"activity": [
{
"ec_number": "7.1.2.2",
"activity": "ATP + 4 H(+)(in) + H2O = ADP + 5 H(+)(out) + phosphate.",
"evidence": [
{
"id": "P54647",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P54647"
}
]
},
{
"ec_number": "7.1.2.2",
"activity": "",
"evidence": [
{
"id": "P54647",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P54647"
}
]
}
]
},
{
"uniprot_ac": "P54868",
"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": "P55809",
"gene_name": "OXCT1",
"activity": [
{
"ec_number": "2.8.3.5",
"activity": "a 3-oxo acid + succinyl-CoA = a 3-oxoacyl-CoA + succinate.",
"evidence": [
{
"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": "P56480",
"gene_name": "Atp5f1b",
"activity": [
{
"ec_number": "7.1.2.2",
"activity": "ATP + 4 H(+)(in) + H2O = ADP + 5 H(+)(out) + phosphate.",
"evidence": [
{
"id": "P56480",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P56480"
}
]
},
{
"ec_number": "7.1.2.2",
"activity": "",
"evidence": [
{
"id": "P56480",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P56480"
}
]
}
]
},
{
"uniprot_ac": "P78540",
"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"
}
]
}
]
},
{
"uniprot_ac": "Q02218",
"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": "Q02338",
"gene_name": "BDH1",
"activity": [
{
"ec_number": "1.1.1.30",
"activity": "(R)-3-hydroxybutanoate + NAD(+) = acetoacetate + H(+) + NADH.",
"evidence": [
{
"id": "Q02338",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q02338"
}
]
},
{
"ec_number": "1.1.1.30",
"activity": "",
"evidence": [
{
"id": "Q02338",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q02338"
}
]
}
]
},
{
"uniprot_ac": "Q05825",
"gene_name": "ATPsynbeta",
"activity": [
{
"ec_number": "7.1.2.2",
"activity": "ATP + 4 H(+)(in) + H2O = ADP + 5 H(+)(out) + phosphate.",
"evidence": [
{
"id": "Q05825",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q05825"
}
]
},
{
"ec_number": "7.1.2.2",
"activity": "",
"evidence": [
{
"id": "Q05825",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q05825"
}
]
}
]
},
{
"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": "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"
}
]
},
{
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