{
"uniprot_canonical_ac": "P10809-1",
"uniprot_ac": "P10809",
"uniprot_id": "CH60_HUMAN",
"mass": {
"chemical_mass": 61055.0,
"monoisotopic_mass": 61055.0
},
"refseq": {
"ac": "NP_002147",
"name": "60 kDa heat shock protein, mitochondrial",
"summary": "This gene encodes a member of the chaperonin family. The encoded mitochondrial protein may function as a signaling molecule in the innate immune system. This protein is essential for the folding and assembly of newly imported proteins in the mitochondria. This gene is adjacent to a related family member and the region between the 2 genes functions as a bidirectional promoter. Several pseudogenes have been associated with this gene. Two transcript variants encoding the same protein have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 13. [provided by RefSeq, Jun 2010].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002147"
},
"gene_names": [
{
"name": "HSPD1",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/P10809",
"id": "P10809"
},
{
"name": "CPN60; GROEL; HLD4; HSP-60; HSP60; HSP65; HuCHA60; SPG13",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002147",
"id": "NP_002147"
},
{
"name": "HSP60",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P10809",
"id": "P10809"
},
{
"name": "HSPD1",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002147",
"id": "NP_002147"
}
],
"protein_names": [
{
"name": "60 kDa heat shock protein, mitochondrial",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "P10809"
},
{
"name": "5.6.1.7",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P10809"
},
{
"name": "60 kDa chaperonin",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P10809"
},
{
"name": "60 kDa heat shock protein, mitochondrial",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002147",
"id": "NP_002147"
},
{
"name": "CPN60",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P10809"
},
{
"name": "Chaperonin 60",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P10809"
},
{
"name": "HSP-60",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P10809"
},
{
"name": "Heat shock protein 60",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P10809"
},
{
"name": "Hsp60",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P10809"
},
{
"name": "HuCHA60",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P10809"
},
{
"name": "Mitochondrial matrix protein P1",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P10809"
},
{
"name": "P60 lymphocyte protein",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P10809"
},
{
"name": "heat shock protein 65; P60 lymphocyte protein; mitochondrial matrix protein P1; short heat shock protein 60 Hsp60s1; chaperonin 60; heat shock 60kDa protein 1 (chaperonin); 60 kDa chaperonin; epididymis secretory sperm binding protein",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002147",
"id": "NP_002147"
}
],
"function": [
{
"annotation": "Chaperonin counteracts diet-induced non-alcoholic fatty liver disease by aiding sirtuin 3 in the control of fatty acid oxidation.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_002147",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002147"
},
{
"database": "PubMed",
"id": "36692509",
"url": "https://glygen.org/publication/PubMed/36692509"
}
]
},
{
"annotation": "Chaperonin implicated in mitochondrial protein import and macromolecular assembly. Together with Hsp10, facilitates the correct folding of imported proteins. May also prevent misfolding and promote the refolding and proper assembly of unfolded polypeptides generated under stress conditions in the mitochondrial matrix. The functional units of these chaperonins consist of heptameric rings of the large subunit Hsp60, which function as a back-to-back double ring. In a cyclic reaction, Hsp60 ring complexes bind one unfolded substrate protein per ring, followed by the binding of ATP and association with 2 heptameric rings of the co-chaperonin Hsp10. This leads to sequestration of the substrate protein in the inner cavity of Hsp60 where, for a certain period of time, it can fold undisturbed by other cell components. Synchronous hydrolysis of ATP in all Hsp60 subunits results in the dissociation of the chaperonin rings and the release of ADP and the folded substrate protein.",
"evidence": [
{
"database": "UniProtKB",
"id": "C9JL19",
"url": "https://www.uniprot.org/uniprot/C9JL19#function"
},
{
"database": "UniProtKB",
"id": "ARBA00037436",
"url": "https://www.uniprot.org/uniprot/ARBA00037436#function"
},
{
"database": "UniProtKB",
"id": "E7EXB4",
"url": "https://www.uniprot.org/uniprot/E7EXB4#function"
},
{
"database": "UniProtKB",
"id": "C9JL25",
"url": "https://www.uniprot.org/uniprot/C9JL25#function"
},
{
"database": "UniProtKB",
"id": "C9JCQ4",
"url": "https://www.uniprot.org/uniprot/C9JCQ4#function"
},
{
"database": "UniProtKB",
"id": "E7ESH4",
"url": "https://www.uniprot.org/uniprot/E7ESH4#function"
},
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809#function"
},
{
"database": "PubMed",
"id": "11422376",
"url": "https://glygen.org/publication/PubMed/11422376"
},
{
"database": "PubMed",
"id": "25918392",
"url": "https://glygen.org/publication/PubMed/25918392"
},
{
"database": "PubMed",
"id": "1346131",
"url": "https://glygen.org/publication/PubMed/1346131"
}
]
},
{
"annotation": "Cuproptosis-related gene PDHX and heat stress-related HSPD1 as potential key drivers associated with cell stemness, aberrant metabolism and immunosuppression in esophageal carcinoma.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_002147",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002147"
},
{
"database": "PubMed",
"id": "36889194",
"url": "https://glygen.org/publication/PubMed/36889194"
}
]
},
{
"annotation": "Ectopic CH60 mediates HAPLN1-induced cell survival signaling in multiple myeloma. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_002147",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002147"
},
{
"database": "PubMed",
"id": "36625202",
"url": "https://glygen.org/publication/PubMed/36625202"
}
]
},
{
"annotation": "Human Mitochondrial Protein HSPD1 Binds to and Regulates the Repair of Deoxyinosine in DNA.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_002147",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002147"
},
{
"database": "PubMed",
"id": "36852893",
"url": "https://glygen.org/publication/PubMed/36852893"
}
]
},
{
"annotation": "Knockdown of heat shock protein family D member 1 (HSPD1) promotes proliferation and migration of ovarian cancer cells via disrupting the stability of mitochondrial 3-oxoacyl-ACP synthase (OXSM). Erratum:[J Ovarian Res. 2023 May 11;16(1):91. PMID: 37170129] Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_002147",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002147"
},
{
"database": "PubMed",
"id": "37087461",
"url": "https://glygen.org/publication/PubMed/37087461"
}
]
},
{
"annotation": "This gene encodes a member of the chaperonin family. The encoded mitochondrial protein may function as a signaling molecule in the innate immune system. This protein is essential for the folding and assembly of newly imported proteins in the mitochondria. This gene is adjacent to a related family member and the region between the 2 genes functions as a bidirectional promoter. Several pseudogenes have been associated with this gene. Two transcript variants encoding the same protein have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 13. [provided by RefSeq, Jun 2010].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_002147",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002147"
}
]
}
],
"disease": [
{
"disease_id": "DOID:0060789",
"recommended_name": {
"id": "DOID:0060789",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0060789",
"name": "hypomyelinating leukodystrophy 4",
"description": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33."
},
"synonyms": [
{
"id": "DOID:0060789",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0060789",
"name": "HLD4",
"description": ""
},
{
"id": "DOID:0060789",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0060789",
"name": "MitCHAP60 disease",
"description": ""
},
{
"id": "DOID:0060789",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0060789",
"name": "mitochondrial HSP60 chaperonopathy",
"description": ""
},
{
"id": "DOID:0060789",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0060789",
"name": "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation",
"description": ""
},
{
"id": "MONDO:0012824",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012824",
"name": "hypomyelinating leukodystrophy 4",
"description": "Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene."
},
{
"id": "MONDO:0012824",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012824",
"name": "HLD4",
"description": ""
},
{
"id": "MONDO:0012824",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012824",
"name": "HSPD1 leukodystrophy",
"description": ""
},
{
"id": "MONDO:0012824",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012824",
"name": "MitCHAP60 disease",
"description": ""
},
{
"id": "MONDO:0012824",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012824",
"name": "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation",
"description": ""
},
{
"id": "MONDO:0012824",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012824",
"name": "hypomyelinating leukodystrophy type 4",
"description": ""
},
{
"id": "MONDO:0012824",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012824",
"name": "leukodystrophy caused by mutation in HSPD1",
"description": ""
},
{
"id": "MONDO:0012824",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012824",
"name": "leukodystrophy, hypomyelinating, type 4",
"description": ""
},
{
"id": "MONDO:0012824",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012824",
"name": "mitochondrial HSP60 chaperonopathy",
"description": ""
},
{
"id": "MONDO:0012824",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012824",
"name": "Mitchap60 disease",
"description": ""
},
{
"id": "MONDO:0012824",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012824",
"name": "leukodystrophy, hypomyelinating, 4",
"description": ""
},
{
"id": "MONDO:0012824",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012824",
"name": "mitochondrial Hsp60 chaperonopathy",
"description": ""
},
{
"id": "MIM:612233",
"resource": "MIM",
"url": "https://www.omim.org/entry/612233",
"name": "Leukodystrophy, hypomyelinating, 4",
"description": "Leukodystrophy, hypomyelinating, 4"
}
],
"evidence": [
{
"id": "612233",
"database": "MIM",
"url": "https://www.omim.org/entry/612233"
}
]
},
{
"disease_id": "DOID:0110766",
"recommended_name": {
"id": "DOID:0110766",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0110766",
"name": "hereditary spastic paraplegia 13",
"description": "A hereditary spastic paraplegia that is characterized by a pure form of the disease with late onset and has_material_basis_in mutation in the HSPD1 gene on chromosome 2q33."
},
"synonyms": [
{
"id": "DOID:0110766",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0110766",
"name": "SPG13",
"description": ""
},
{
"id": "DOID:0110766",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0110766",
"name": "autosomal dominant spastic paraplegia 13",
"description": ""
},
{
"id": "MONDO:0011532",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011532",
"name": "hereditary spastic paraplegia 13",
"description": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the HSPD1 gene."
},
{
"id": "MONDO:0011532",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011532",
"name": "HSPD1 hereditary spastic paraplegia",
"description": ""
},
{
"id": "MONDO:0011532",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011532",
"name": "SPG13",
"description": ""
},
{
"id": "MONDO:0011532",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011532",
"name": "autosomal dominant spastic paraplegia 13",
"description": ""
},
{
"id": "MONDO:0011532",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011532",
"name": "hereditary spastic paraplegia caused by mutation in HSPD1",
"description": ""
},
{
"id": "MONDO:0011532",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011532",
"name": "hereditary spastic paraplegia type 13",
"description": ""
},
{
"id": "MONDO:0011532",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011532",
"name": "autosomal dominant spastic paraplegia type 13",
"description": ""
},
{
"id": "MONDO:0011532",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011532",
"name": "spastic paraplegia 13",
"description": ""
},
{
"id": "MONDO:0011532",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011532",
"name": "spastic paraplegia 13, autosomal dominant",
"description": ""
},
{
"id": "MIM:605280",
"resource": "MIM",
"url": "https://www.omim.org/entry/605280",
"name": "Spastic paraplegia 13, autosomal dominant",
"description": "Spastic paraplegia 13, autosomal dominant"
}
],
"evidence": [
{
"id": "605280",
"database": "MIM",
"url": "https://www.omim.org/entry/605280"
}
]
}
],
"snv": [
{
"evidence": [
{
"id": "rs766297735",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766297735"
},
{
"id": "rs766297735",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766297735"
},
{
"id": "rs766297735",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs766297735#frequency_tab"
},
{
"id": "rs766297735",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs766297735"
}
],
"glycoeffect": [
"n-glyco-sequon-loss"
],
"start_pos": 103,
"end_pos": 103,
"sequence_org": "N",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->SNT).",
"chr_id": "2",
"chr_pos": "197497259",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "N103",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs755795432",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755795432"
},
{
"id": "rs755795432",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755795432"
},
{
"id": "rs755795432",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs755795432"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 232,
"end_pos": 232,
"sequence_org": "S",
"sequence_mut": "P",
"comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->P).",
"chr_id": "2",
"chr_pos": "197494163",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S232",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1574597743",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1574597743"
},
{
"id": "rs1574597743",
"database": "ENSEMBL",
"url": "https://www.ensembl.org/id/rs1574597743"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 318,
"end_pos": 318,
"sequence_org": "I",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IAT->NAT).",
"chr_id": "2",
"chr_pos": "197490213",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "I318",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs748986010",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748986010"
},
{
"id": "rs748986010",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748986010"
},
{
"id": "rs748986010",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs748986010"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 484,
"end_pos": 484,
"sequence_org": "G",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAG->NAS).",
"chr_id": "2",
"chr_pos": "197487977",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "G484",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs765737756",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765737756"
},
{
"id": "rs765737756",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765737756"
},
{
"id": "rs765737756",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs765737756"
}
],
"glycoeffect": [
"n-glyco-sequon-gain",
"o-glyco-site-loss"
],
"start_pos": 497,
"end_pos": 497,
"sequence_org": "S",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS).",
"chr_id": "2",
"chr_pos": "197487937",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S497",
"keywords": [
"ebi",
"germline"
]
}
],
"mutagenesis": [],
"expression_tissue": [
{
"tissue": {
"name": "Adult mammalian kidney",
"namespace": "UBERON",
"id": "0000082",
"url": "http://purl.obolibrary.org/obo/UBERON_0000082"
},
"score": "85.57",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000144381",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000144381"
}
]
},
{
"tissue": {
"name": "Oral cavity",
"namespace": "UBERON",
"id": "0000167",
"url": "http://purl.obolibrary.org/obo/UBERON_0000167"
},
"score": "52.14",
"present": "LOW",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000144381",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000144381"
}
]
},
{
"tissue": {
"name": "Stomach",
"namespace": "UBERON",
"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
},
"score": "97.93",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000144381",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000144381"
}
]
},
{
"tissue": {
"name": "Esophagus",
"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
},
"score": "98.58",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000144381",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000144381"
}
]
},
{
"tissue": {
"name": "Rectum",
"namespace": "UBERON",
"id": "0001052",
"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
},
"score": "99.19",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000144381",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000144381"
}
]
},
{
"tissue": {
"name": "Urinary bladder",
"namespace": "UBERON",
"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
},
"score": "75.48",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000144381",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000144381"
}
]
},
{
"tissue": {
"name": "Thyroid gland",
"namespace": "UBERON",
"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "90.54",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000144381",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000144381"
}
]
},
{
"tissue": {
"name": "Liver",
"namespace": "UBERON",
"id": "0002107",
"url": "http://purl.obolibrary.org/obo/UBERON_0002107"
},
"score": "91.09",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000144381",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000144381"
}
]
},
{
"tissue": {
"name": "Prostate gland",
"namespace": "UBERON",
"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
"score": "98.41",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000144381",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000144381"
}
]
},
{
"tissue": {
"name": "Thoracic mammary gland",
"namespace": "UBERON",
"id": "0005200",
"url": "http://purl.obolibrary.org/obo/UBERON_0005200"
},
"score": "92.83",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000144381",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000144381"
}
]
}
],
"expression_disease": [
{
"significant": "Yes",
"trend": "up",
"name": "Prostate cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10283",
"evidence": [
{
"database": "BioXpress",
"id": "P10809",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10809"
}
],
"disease": [
{
"disease_id": "DOID:10283",
"recommended_name": {
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer",
"description": "A male reproductive organ cancer that is located_in the prostate."
},
"synonyms": [
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "NGP - new growth of prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "malignant tumor of the prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "tumor of the prostate",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, type 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "HPC9",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "EHBP1 familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "familial prostate cancer caused by mutation in EHBP1",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, type 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "HPC12",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, type 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "HPC5",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, type 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, susceptibility to, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "HPC3",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, type 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, susceptibility to, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "HPC4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, on chromosome 7",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "MSMB familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "familial prostate cancer caused by mutation in MSMB",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, type 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "HPC13",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, type 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "HPC8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "predisposing for prostate cancer",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, type 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "HPC6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "HPC10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate carcinoma",
"description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma."
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate carcinoma",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, somatic",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, hereditary",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "HPC7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer aggressiveness",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "RNASEL familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "familial prostate cancer caused by mutation in RNASEL",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, type 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "HPC1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "Prca1",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "HPC11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "HPC14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "HPC15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "HPCX1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer susceptibility, X-linked",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "HPCX2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MIM:611868",
"resource": "MIM",
"url": "https://www.omim.org/entry/611868",
"name": "Prostate cancer, hereditary, 12",
"description": "Prostate cancer, hereditary, 12"
},
{
"id": "MIM:611928",
"resource": "MIM",
"url": "https://www.omim.org/entry/611928",
"name": "Prostate cancer, hereditary, 13",
"description": "Prostate cancer, hereditary, 13"
},
{
"id": "MIM:176807",
"resource": "MIM",
"url": "https://www.omim.org/entry/176807",
"name": "Prostate cancer",
"description": "Prostate cancer"
},
{
"id": "MIM:601518",
"resource": "MIM",
"url": "https://www.omim.org/entry/601518",
"name": "Prostate cancer, hereditary, 1",
"description": "Prostate cancer, hereditary, 1"
},
{
"id": "MIM:611955",
"resource": "MIM",
"url": "https://www.omim.org/entry/611955",
"name": "Prostate cancer, hereditary, 11",
"description": "Prostate cancer, hereditary, 11"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
"id": "P10809",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10809"
}
],
"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": [
{
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"resource": "Disease Ontology",
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"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": "Yes",
"trend": "up",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
"evidence": [
{
"database": "BioXpress",
"id": "P10809",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10809"
}
],
"disease": [
{
"disease_id": "DOID:11054",
"recommended_name": {
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"name": "urinary bladder cancer",
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},
"synonyms": [
{
"id": "DOID:11054",
"resource": "Disease Ontology",
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},
{
"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",
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},
{
"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",
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},
{
"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",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the bladder",
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},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the urinary bladder",
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},
{
"id": "MONDO:0001187",
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"name": "malignant tumour of urinary bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder neoplasm",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumor",
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},
{
"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",
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},
{
"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",
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},
{
"id": "MIM:109800",
"resource": "MIM",
"url": "https://www.omim.org/entry/109800",
"name": "Bladder cancer",
"description": "Bladder cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
"evidence": [
{
"database": "BioXpress",
"id": "P10809",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10809"
}
],
"disease": [
{
"disease_id": "DOID:11934",
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},
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{
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"url": "http://disease-ontology.org/term/DOID:11934",
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},
{
"id": "DOID:11934",
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},
{
"id": "DOID:11934",
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},
{
"id": "DOID:11934",
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"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Lung cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1324",
"evidence": [
{
"database": "BioXpress",
"id": "P10809",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10809"
}
],
"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": "Yes",
"trend": "up",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
{
"database": "BioXpress",
"id": "P10809",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10809"
}
],
"disease": [
{
"disease_id": "DOID:1612",
"recommended_name": {
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast cancer",
"description": "A thoracic cancer that originates in the mammary gland."
},
"synonyms": [
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant neoplasm of breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant tumor of the breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary cancer",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "primary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, lobular, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of the breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial Male",
"description": ""
},
{
"id": "MIM:114480",
"resource": "MIM",
"url": "https://www.omim.org/entry/114480",
"name": "Breast cancer",
"description": "Breast cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Thyroid cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1781",
"evidence": [
{
"database": "BioXpress",
"id": "P10809",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10809"
}
],
"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": "No",
"trend": "up",
"name": "Kidney cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:263",
"evidence": [
{
"database": "BioXpress",
"id": "P10809",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10809"
}
],
"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": "up",
"name": "Liver cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:3571",
"evidence": [
{
"database": "BioXpress",
"id": "P10809",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10809"
}
],
"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": "P10809",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10809"
}
],
"disease": [
{
"disease_id": "DOID:363",
"recommended_name": {
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine cancer",
"description": "A female reproductive organ cancer that is located_in the uterus."
},
"synonyms": [
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "CA - cancer of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "Tumour of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterus neoplasm",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Esophageal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:5041",
"evidence": [
{
"database": "BioXpress",
"id": "P10809",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10809"
}
],
"disease": [
{
"disease_id": "DOID:5041",
"recommended_name": {
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophageal cancer",
"description": "A gastrointestinal system cancer that is located_in the esophagus."
},
"synonyms": [
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophagus cancer",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Distal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Proximal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of the middle Third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": "A primary or metastatic malignant neoplasm involving the esophagus."
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
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},
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},
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"strand": "+",
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"id": "ENST00000676933.1",
"url": "https://www.ensembl.org/id/ENST00000676933.1"
},
{
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"id": "ENSP00000503144.1",
"url": "https://www.ensembl.org/id/ENSP00000503144.1"
}
]
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},
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"length": 322,
"header": "tr|A0A7I2V369-1|CH60_HUMAN Computationally mapped isoform of 60 kDa heat shock protein, mitochondrial OS=Homo sapiens OX=9606 GN=HSPD1 PE=1 SV=1 CANONICAL=P10809-1"
},
"locus": {
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"id": "ENST00000677454.1",
"url": "https://www.ensembl.org/id/ENST00000677454.1"
},
{
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"id": "ENSP00000503295.1",
"url": "https://www.ensembl.org/id/ENSP00000503295.1"
}
]
}
},
{
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"length": 537,
"header": "tr|A0A7I2V599-1|CH60_HUMAN Computationally mapped isoform of 60 kDa heat shock protein, mitochondrial OS=Homo sapiens OX=9606 GN=HSPD1 PE=1 SV=1 CANONICAL=P10809-1"
},
"locus": {
"chromosome": "2",
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"id": "ENST00000678621.1",
"url": "https://www.ensembl.org/id/ENST00000678621.1"
},
{
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"id": "ENSP00000504328.1",
"url": "https://www.ensembl.org/id/ENSP00000504328.1"
}
]
}
},
{
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"length": 296,
"header": "tr|A0A7I2V5K3-1|CH60_HUMAN Computationally mapped isoform of 60 kDa heat shock protein, mitochondrial OS=Homo sapiens OX=9606 GN=HSPD1 PE=1 SV=1 CANONICAL=P10809-1"
},
"locus": {
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"id": "ENST00000679291.1",
"url": "https://www.ensembl.org/id/ENST00000679291.1"
},
{
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"id": "ENSP00000504417.1",
"url": "https://www.ensembl.org/id/ENSP00000504417.1"
}
]
}
},
{
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"length": 375,
"header": "tr|A0A7I2V5M1-1|CH60_HUMAN Computationally mapped isoform of 60 kDa heat shock protein, mitochondrial OS=Homo sapiens OX=9606 GN=HSPD1 PE=1 SV=1 CANONICAL=P10809-1"
},
"locus": {
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"start_pos": 197498848,
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"strand": "+",
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"id": "ENST00000677403.1",
"url": "https://www.ensembl.org/id/ENST00000677403.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000504667.1",
"url": "https://www.ensembl.org/id/ENSP00000504667.1"
}
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}
},
{
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"sequence": {
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"header": "tr|A0A7I2YQ71-1|CH60_HUMAN Computationally mapped isoform of 60 kDa heat shock protein, mitochondrial OS=Homo sapiens OX=9606 GN=HSPD1 PE=1 SV=1 CANONICAL=P10809-1"
},
"locus": {
"chromosome": "2",
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"id": "ENST00000678545.1",
"url": "https://www.ensembl.org/id/ENST00000678545.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000502920.1",
"url": "https://www.ensembl.org/id/ENSP00000502920.1"
}
]
}
},
{
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"url": "",
"sequence": {
"sequence": "MLRLPTVFRQMRPVSRVLAPHLTRAYAKDVKFGADARALMLQGVDLLADAVAVTMGPKGRTVIIEQSWGSPKVTKDGVTVAKSIDLKDKYKNIGAKLVQDVANNTNEEAGDGTTTATVLARSIAKEGFEKISKGANPVEIRRGQKCEFQDAYVLLSEKKISSIQSIVPALEIANAHRKPLVIIAEDVDGEALSTLVLNRLKVGLQVVAVKAPGFGDNRKNQLKDMAIATGGAVFGEEGLTLNLEDVQPHDLGKVGEVIVTKDDAMLLKGKGDKAQIEKRIQEIIEQLDVTTSEYEKEKLNERLAKLSDGVAVLKVGGTSDVEVNEKKDRVTDALNATRAAVEEGIVLGGGCALLRCIPALDSLTPANEDQKIGIEIIKRTLKIPAMTIAKNAGVEGSLIVEKIMQSSSEVGYDAMAGDFVNMVEKGIIDPTKVVRTALLDAAGVASLLTTAEVVVTEIPKEEKDPGMGAMGGMGGGMGGGMF",
"length": 482,
"header": "tr|A0A7I2YQK6-1|CH60_HUMAN Computationally mapped isoform of 60 kDa heat shock protein, mitochondrial OS=Homo sapiens OX=9606 GN=HSPD1 PE=1 SV=1 CANONICAL=P10809-1"
},
"locus": {
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"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000678170.1",
"url": "https://www.ensembl.org/id/ENST00000678170.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000503910.1",
"url": "https://www.ensembl.org/id/ENSP00000503910.1"
}
]
}
},
{
"isoform_ac": "C9J0S9-1",
"url": "",
"sequence": {
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"length": 58,
"header": "tr|C9J0S9-1|CH60_HUMAN Computationally mapped isoform of 60 kDa heat shock protein, mitochondrial OS=Homo sapiens OX=9606 GN=HSPD1 PE=1 SV=1 CANONICAL=P10809-1"
},
"locus": {
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"database": "Ensembl Transcript",
"id": "ENST00000418022",
"url": "https://www.ensembl.org/id/ENST00000418022"
},
{
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"name": "protein-folding chaperone binding",
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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "ATP hydrolysis activity",
"id": "GO:0016887",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "ubiquitin protein ligase binding",
"id": "GO:0031625",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "apolipoprotein A-I binding",
"id": "GO:0034186",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034186",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "double-stranded RNA binding",
"id": "GO:0003725",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003725",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "high-density lipoprotein particle binding",
"id": "GO:0008035",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008035",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "lipopolysaccharide binding",
"id": "GO:0001530",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001530",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "p53 binding",
"id": "GO:0002039",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002039",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "single-stranded DNA binding",
"id": "GO:0003697",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003697",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "isomerase activity",
"id": "GO:0016853",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016853",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
}
]
},
{
"name": "Cellular Component",
"total": 19,
"go_terms": [
{
"name": "mitochondrion",
"id": "GO:0005739",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "coated vesicle",
"id": "GO:0030135",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030135",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "extracellular space",
"id": "GO:0005615",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "cytoplasm",
"id": "GO:0005737",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "mitochondrial inner membrane",
"id": "GO:0005743",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "mitochondrial matrix",
"id": "GO:0005759",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "early endosome",
"id": "GO:0005769",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "cytosol",
"id": "GO:0005829",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "plasma membrane",
"id": "GO:0005886",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "clathrin-coated pit",
"id": "GO:0005905",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "cell surface",
"id": "GO:0009986",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "membrane",
"id": "GO:0016020",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "secretory granule",
"id": "GO:0030141",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "extracellular exosome",
"id": "GO:0070062",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "sperm plasma membrane",
"id": "GO:0097524",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097524",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "protein-containing complex",
"id": "GO:0032991",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "sperm midpiece",
"id": "GO:0097225",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "lipopolysaccharide receptor complex",
"id": "GO:0046696",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046696",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "migrasome",
"id": "GO:0140494",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140494",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
}
]
},
{
"name": "Biological Process",
"total": 29,
"go_terms": [
{
"name": "protein refolding",
"id": "GO:0042026",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042026",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "positive regulation of T cell mediated immune response to tumor cell",
"id": "GO:0002842",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002842",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "positive regulation of interferon-alpha production",
"id": "GO:0032727",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032727",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "positive regulation of macrophage activation",
"id": "GO:0043032",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043032",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "protein import into mitochondrial intermembrane space",
"id": "GO:0045041",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045041",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "isotype switching to IgG isotypes",
"id": "GO:0048291",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048291",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "biological process involved in interaction with symbiont",
"id": "GO:0051702",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051702",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "response to cold",
"id": "GO:0009409",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009409",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "positive regulation of apoptotic process",
"id": "GO:0043065",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "negative regulation of apoptotic process",
"id": "GO:0043066",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "positive regulation of interleukin-6 production",
"id": "GO:0032755",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "T cell activation",
"id": "GO:0042110",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042110",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "B cell activation",
"id": "GO:0042113",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042113",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "activation of cysteine-type endopeptidase activity involved in apoptotic process",
"id": "GO:0006919",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006919",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "protein stabilization",
"id": "GO:0050821",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "protein folding",
"id": "GO:0006457",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "positive regulation of type II interferon production",
"id": "GO:0032729",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032729",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "apoptotic mitochondrial changes",
"id": "GO:0008637",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008637",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "protein maturation",
"id": "GO:0051604",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051604",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "positive regulation of T cell activation",
"id": "GO:0050870",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050870",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "positive regulation of interleukin-10 production",
"id": "GO:0032733",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032733",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "response to unfolded protein",
"id": "GO:0006986",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006986",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "B cell proliferation",
"id": "GO:0042100",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042100",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "chaperone-mediated protein complex assembly",
"id": "GO:0051131",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051131",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "'de novo' protein folding",
"id": "GO:0006458",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006458",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "MyD88-dependent toll-like receptor signaling pathway",
"id": "GO:0002755",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002755",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "cellular response to interleukin-7",
"id": "GO:0098761",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098761",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "positive regulation of interleukin-12 production",
"id": "GO:0032735",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032735",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
},
{
"name": "mitochondrial unfolded protein response",
"id": "GO:0034514",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034514",
"evidence": [
{
"database": "UniProtKB",
"id": "P10809",
"url": "https://www.uniprot.org/uniprot/P10809"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [
{
"name": "60 kDa heat shock protein, mitochondrial N-glycosylated 1 (human)",
"definition": "A 60 kDa heat shock protein, mitochondrial (human) that has been N-glycosylated at the residue equivalent to Asn-103 of the amino acid sequence represented by UniProtKB:P10809-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P10809-1, Asn-103, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]",
"evidence": [
{
"id": "PR:000054794",
"database": "PRO",
"url": "https://proconsortium.org/app/entry/PR:000054794"
}
]
}
],
"site_annotation": [
{
"start_pos": 103,
"end_pos": 105,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 230,
"end_pos": 232,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 426,
"end_pos": 428,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [],
"interactions": [],
"reactions": [
{
"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-1299475",
"name": "TIMM23 PAM translocates proteins from the mitochondrial intermembrane space to the mitochondrial matrix",
"equation": "",
"summary": "As inferred from the yeast TIM23 complex, the human TIMM23 complex transports precursor proteins across the inner membrane and into the matrix. As in yeast, subunits TIMM50, TIMM17, and TIMM23 are probably necessary for initiating translocation while the PAM complex with mtHSP70 (HSPA9, yeast SSC1) provides the motive force that drives the transport. mtHSP70 binding to the precursor pulls the protein into the matrix in a reaction requiring ATP hydrolysis. The yeast reaction appears to use a Brownian ratchet mechanism (Yamano et al. 2008).
In yeast experimentally verified substrates of TIM23 PAM include Hsp60 (HSP60 in human) and Yfh1 (Frataxin, FXN in human). Many other matrix proteins are believed to be substrates of the TIMM23 complex",
"cellular_location": "mitochondrial inner membrane, mitochondrial matrix",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P00480-1",
"Q16595-1",
"P10809-1"
],
"evidence": [
{
"id": "R-HSA-1299475",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1299475"
}
]
},
{
"id": "R-HSA-1299478",
"name": "MPP cleaves targeting peptide (presequence) of matrix 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 matrix are drawn into the matrix by ATP-dependent interaction with mtHSP70 (HSPA9, homolog of yeast SSC1) of the PAM complex.",
"cellular_location": "mitochondrial inner membrane, mitochondrial matrix",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P00480-1",
"Q16595-1",
"P10809-1",
"O75439-1"
],
"evidence": [
{
"id": "R-HSA-1299478",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1299478"
}
]
},
{
"id": "R-HSA-1299480",
"name": "Precursor proteins enter TIMM23 PAM",
"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 matrix. 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 PAM complex as the configuration that delivers inner membrane proteins. The PAM17 subcomplex is required for this activity. The N-terminal presequence of precursors first interacts with TIMM50 and TIMM23 (Zhang et al. 2013). The TIMM17 and TIMM23 subunits form a channel and are required to initiate translocation of precursors.
In yeast experimentally verified substrates of TIM23:PAM include Hsp60 (HSP60 in human) and Yfh1 (Frataxin, FXN in human). Many other matrix 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": [
"P00480-1",
"Q16595-1",
"P10809-1"
],
"evidence": [
{
"id": "R-HSA-1299480",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1299480"
}
]
},
{
"id": "R-HSA-8869558",
"name": "HSPD1 gene expression is repressed by the complex of NPM1 and TFAP2A homodimer",
"equation": "",
"summary": "In the course of retinoic acid-induced cell differentiation, formation of the complex between NPM1 (nucleophosmin) and TFAP2A (AP-2 alpha) homodimer, bound to the AP-2 alpha response element in the promoter of the HSPD1 (Hsp60) gene, represses transcription of the mitochondrial matrix chaperonin HSPD1. Transcriptional repression probably involves NPM1-mediated recruitment of histone deacetylases HDAC1 and HDAC2 to the HSPD1 gene promoter (Liu et al. 2007).",
"cellular_location": "mitochondrial matrix, nucleoplasm",
"input_participant_list": [
"R-HSA-8869513"
],
"output_participant_list": [
"R-HSA-1299448"
],
"enzyme_list": [
"P10809-1"
],
"evidence": [
{
"id": "R-HSA-8869558",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8869558"
}
]
},
{
"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-1299448",
"participant_name": "HSPD1 [mitochondrial matrix]",
"crossref": [
{
"id": "ENST00000452200",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000402478",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000677913",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000428204",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000144381-HSPD1",
"database": "HPA",
"url": ""
},
{
"id": "ENST00000439605",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000426480",
"database": "Ensembl",
"url": ""
},
{
"id": "8G7O",
"database": "PDB",
"url": ""
},
{
"id": "ENSG00000144381",
"database": "OpenTargets",
"url": ""
},
{
"id": "ENSP00000412227",
"database": "Ensembl",
"url": ""
},
{
"id": "4PJ1",
"database": "PDB",
"url": ""
},
{
"id": "ENSP00000396460",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000412717",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000388968",
"database": "Ensembl",
"url": ""
},
{
"id": "6HT7",
"database": "PDB",
"url": ""
},
{
"id": "8G7J",
"database": "PDB",
"url": ""
},
{
"id": "8G7N",
"database": "PDB",
"url": ""
},
{
"id": "ENST00000418022",
"database": "Ensembl",
"url": ""
},
{
"id": "P10809",
"database": "PRO",
"url": ""
},
{
"id": "7L7S",
"database": "PDB",
"url": ""
},
{
"id": "8G7M",
"database": "PDB",
"url": ""
},
{
"id": "7AZP",
"database": "PDB",
"url": ""
},
{
"id": "5.6.1.7",
"database": "IntEnz",
"url": ""
},
{
"id": "ENSP00000340019",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000678761",
"database": "Ensembl",
"url": ""
},
{
"id": "P10809",
"database": "GeneCards",
"url": ""
},
{
"id": "16233",
"database": "Orphanet",
"url": ""
},
{
"id": "P10809",
"database": "Pharos - Targets",
"url": ""
},
{
"id": "NP_002147.2",
"database": "RefSeq",
"url": ""
},
{
"id": "ENSP00000373620",
"database": "Ensembl",
"url": ""
},
{
"id": "P10809",
"database": "UniProt",
"url": ""
},
{
"id": "ENSG00000144381",
"database": "Ensembl",
"url": ""
},
{
"id": "6MRD",
"database": "PDB",
"url": ""
},
{
"id": "6MRC",
"database": "PDB",
"url": ""
},
{
"id": "8G7K",
"database": "PDB",
"url": ""
},
{
"id": "ENSP00000414446",
"database": "Ensembl",
"url": ""
},
{
"id": "8G7L",
"database": "PDB",
"url": ""
},
{
"id": "ENST00000345042",
"database": "Ensembl",
"url": ""
},
{
"id": "NP_955472.1",
"database": "RefSeq",
"url": ""
},
{
"id": "ENSP00000503139",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000503894",
"database": "Ensembl",
"url": ""
}
]
},
{
"participant_id": "R-HSA-8869513",
"participant_name": "HSPD1 gene [nucleoplasm]",
"crossref": [
{
"id": "ENSG00000144381",
"database": "ENSEMBL",
"url": ""
}
]
}
],
"reaction_enzymes": [
{
"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": "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": "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": "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": "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": "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": "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": "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": "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"
}
]
},
{
"ec_number": "2.7.11.2",
"activity": "",
"evidence": [
{
"id": "Q15118",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q15118"
}
]
}
]
},
{
"uniprot_ac": "Q16595",
"gene_name": "FXN",
"activity": [
{
"ec_number": "1.16.3.1",
"activity": "4 Fe(2+) + 4 H(+) + O2 = 4 Fe(3+) + 2 H2O.",
"evidence": [
{
"id": "Q16595",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q16595"
}
]
},
{
"ec_number": "1.16.3.1",
"activity": "",
"evidence": [
{
"id": "Q16595",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q16595"
}
]
}
]
},
{
"uniprot_ac": "Q16740",
"gene_name": "CLPP",
"activity": [
{
"ec_number": "3.4.21.92",
"activity": "Hydrolysis of proteins to small peptides in the presence of ATP and magnesium. alpha-casein is the usual test substrate. In the absence of ATP, only oligopeptides shorter than five residues are hydrolyzed (such as succinyl-Leu-Tyr-|-NHMec, and Leu-Tyr-Leu-|-Tyr-Trp, in which cleavage of the -Tyr-|-Leu- and -Tyr-|-Trp bonds also occurs).",
"evidence": [
{
"id": "Q16740",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q16740"
}
]
},
{
"ec_number": "3.4.21.92",
"activity": "",
"evidence": [
{
"id": "Q16740",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q16740"
}
]
}
]
},
{
"uniprot_ac": "Q16836",
"gene_name": "HADH",
"activity": [
{
"ec_number": "1.1.1.35",
"activity": "a (3S)-3-hydroxyacyl-CoA + NAD(+) = a 3-oxoacyl-CoA + H(+) + NADH.",
"evidence": [
{
"id": "Q16836",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q16836"
}
]
},
{
"ec_number": "1.1.1.35",
"activity": "",
"evidence": [
{
"id": "Q16836",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q16836"
}
]
}
]
},
{
"uniprot_ac": "Q4G0N4",
"gene_name": "NADK2",
"activity": [
{
"ec_number": "2.7.1.23",
"activity": "ATP + NAD(+) = ADP + H(+) + NADP(+).",
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