{ "uniprot_canonical_ac": "O43464-1", "uniprot_ac": "O43464", "uniprot_id": "HTRA2_HUMAN", "mass": { "chemical_mass": 48841.0, "monoisotopic_mass": 48841.0 }, "refseq": { "ac": "NP_001308656", "name": "serine protease HTRA2, mitochondrial isoform 3 preproprotein", "summary": "This gene encodes a serine protease. The protein has been localized in the endoplasmic reticulum and interacts with an alternatively spliced form of mitogen-activated protein kinase 14. The protein has also been localized to the mitochondria with release to the cytosol following apoptotic stimulus. The protein is thought to induce apoptosis by binding the apoptosis inhibitory protein baculoviral IAP repeat-containing 4. Nuclear localization of this protein has also been observed. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308656" }, "gene_names": [ { "name": "HTRA2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43464", "id": "O43464" }, { "name": "HTRA2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308656", "id": "NP_001308656" }, { "name": "MGCA8; OMI; PARK13; PRSS25", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308656", "id": "NP_001308656" }, { "name": "OMI", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43464", "id": "O43464" }, { "name": "PRSS25", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43464", "id": "O43464" } ], "protein_names": [ { "name": "Serine protease HTRA2, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43464" }, { "name": "3.4.21.108", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43464" }, { "name": "High temperature requirement protein A2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43464" }, { "name": "HtrA2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43464" }, { "name": "Omi stress-regulated endoprotease", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43464" }, { "name": "Serine protease 25", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43464" }, { "name": "Serine proteinase OMI", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43464" }, { "name": "protease, serine, 25; HtrA-like serine protease; high temperature requirement protein A2; Omi stress-regulated endoprotease; serine protease HTRA2, mitochondrial; serine protease 25; serine proteinase OMI; epididymis secretory sperm binding protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308656", "id": "NP_001308656" }, { "name": "serine protease HTRA2, mitochondrial isoform 3 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308656", "id": "NP_001308656" } ], "function": [ { "annotation": "A new function for the serine protease HtrA2 in controlling radiation-induced senescence in cancer cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001308656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308656" }, { "database": "PubMed", "id": "35122388", "url": "https://glygen.org/publication/PubMed/35122388" } ] }, { "annotation": "HtrA2 regulates alpha-Synuclein-mediated mitochondrial reactive oxygen species production in the mitochondria of microglia.", "evidence": [ { "database": "RefSeq", "id": "NP_001308656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308656" }, { "database": "PubMed", "id": "36442236", "url": "https://glygen.org/publication/PubMed/36442236" } ] }, { "annotation": "Protease activity of Omi/HtrA2 promotes caspase activation through multiple pathways", "evidence": [ { "database": "RefSeq", "id": "NP_001308656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308656" }, { "database": "PubMed", "id": "14605674", "url": "https://glygen.org/publication/PubMed/14605674" } ] }, { "annotation": "Role of conserved regulatory loop residues in allosteric propagation of serine protease HtrA2. Erratum:[Biochem Biophys Res Commun. 2022 Apr 2;598:138. PMID: 35183352]", "evidence": [ { "database": "RefSeq", "id": "NP_001308656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308656" }, { "database": "PubMed", "id": "35074587", "url": "https://glygen.org/publication/PubMed/35074587" } ] }, { "annotation": "Role of high-temperature requirement serine protease A 2 in rheumatoid inflammation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001308656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308656" }, { "database": "PubMed", "id": "37287073", "url": "https://glygen.org/publication/PubMed/37287073" } ] }, { "annotation": "Serine protease that shows proteolytic activity against a non-specific substrate beta-casein. Promotes or induces cell death either by direct binding to and inhibition of BIRC proteins (also called inhibitor of apoptosis proteins, IAPs), leading to an increase in caspase activity, or by a BIRC inhibition-independent, caspase-independent and serine protease activity-dependent mechanism. Cleaves THAP5 and promotes its degradation during apoptosis. Isoform 2 seems to be proteolytically inactive.", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464#function" }, { "database": "PubMed", "id": "19502560", "url": "https://glygen.org/publication/PubMed/19502560" }, { "database": "PubMed", "id": "15200957", "url": "https://glygen.org/publication/PubMed/15200957" } ] }, { "annotation": "This gene encodes a serine protease. The protein has been localized in the endoplasmic reticulum and interacts with an alternatively spliced form of mitogen-activated protein kinase 14. The protein has also been localized to the mitochondria with release to the cytosol following apoptotic stimulus. The protein is thought to induce apoptosis by binding the apoptosis inhibitory protein baculoviral IAP repeat-containing 4. Nuclear localization of this protein has also been observed. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001308656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308656" } ] } ], "disease": [ { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "evidence": [ { "id": "168600", "database": "MIM", "url": "https://www.omim.org/entry/168600" } ] }, { "disease_id": "DOID:0070000", "recommended_name": { "id": "DOID:0070000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070000", "name": "3-methylglutaconic aciduria type 8", "description": "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13." }, "synonyms": [ { "id": "DOID:0070000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070000", "name": "3-methylglutaconic aciduria type VIII, MGCA8", "description": "" }, { "id": "MONDO:0044723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044723", "name": "3-methylglutaconic aciduria type 8", "description": "" }, { "id": "MONDO:0044723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044723", "name": "3-methylglutaconic aciduria type VIII, MGCA8", "description": "" }, { "id": "MONDO:0044723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044723", "name": "3-methylglutaconic aciduria, type VIII", "description": "" }, { "id": "MONDO:0044723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044723", "name": "3-methylglutaconic aciduria, type VIII; MGCA8", "description": "" }, { "id": "MONDO:0044723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044723", "name": "MGA8", "description": "" }, { "id": "MONDO:0044723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044723", "name": "MGCA8", "description": "" }, { "id": "MONDO:0044723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044723", "name": "3-Methylglutaconic aciduria, type 8", "description": "" }, { "id": "MONDO:0044723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044723", "name": "3-methylglutaconic aciduria type VIII", "description": "" }, { "id": "MIM:617248", "resource": "MIM", "url": "https://www.omim.org/entry/617248", "name": "3-methylglutaconic aciduria 8", "description": "3-methylglutaconic aciduria 8" } ], "evidence": [ { "id": "617248", "database": "MIM", "url": "https://www.omim.org/entry/617248" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "evidence": [ { "id": "168600", "database": "MIM", "url": "https://www.omim.org/entry/168600" } ] }, { "disease_id": "MONDO:0012466", "recommended_name": { "id": "MONDO:0012466", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012466", "name": "Parkinson disease 13, autosomal dominant, susceptibility to", "description": "Any young-onset Parkinson disease in which the cause of the disease is a mutation in the HTRA2 gene." }, "synonyms": [ { "id": "MONDO:0012466", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012466", "name": "HTRA2 young-onset Parkinson disease", "description": "" }, { "id": "MONDO:0012466", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012466", "name": "Parkinson disease 13", "description": "" }, { "id": "MONDO:0012466", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012466", "name": "Parkinson disease 13, autosomal dominant, susceptibility to", "description": "" }, { "id": "MONDO:0012466", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012466", "name": "young-onset Parkinson disease caused by mutation in HTRA2", "description": "" }, { "id": "MONDO:0012466", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012466", "name": "PARK13", "description": "" }, { "id": "MONDO:0012466", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012466", "name": "susceptibility to autosomal dominant Parkinson disease 13", "description": "" }, { "id": "MIM:610297", "resource": "MIM", "url": "https://www.omim.org/entry/610297", "name": "Parkinson disease 13", "description": "Parkinson disease 13" } ], "evidence": [ { "id": "610297", "database": "MIM", "url": "https://www.omim.org/entry/610297" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 134, "end_pos": 134, "sequence_org": "A", "sequence_mut": "M", "comment": "Loss of interaction with XIAP. Loss of inhibition of XIAP activity.", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" }, { "database": "PubMed", "id": "11583623", "url": "https://glygen.org/publication/PubMed/11583623" } ] }, { "start_pos": 306, "end_pos": 306, "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of protease activity.", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" }, { "database": "PubMed", "id": "10644717", "url": "https://glygen.org/publication/PubMed/10644717" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "82.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115317", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115317" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "76.08", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000115317", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115317" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "81.02", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000115317", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115317" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "78.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000115317", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115317" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "91.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115317", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115317" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115317", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115317" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "70.78", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000115317", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115317" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "85.95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115317", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115317" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "89.7", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115317", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115317" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "70.63", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000115317", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115317" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "81.34", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000115317", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115317" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "87.9", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115317", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115317" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "90.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115317", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115317" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43464", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43464" } ], "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": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43464", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43464" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43464", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43464" } ], "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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43464" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "common_name": "Human" } ], "gene": [ { "name": "HTRA2", "url": "https://www.uniprot.org/uniprot/O43464", "locus": { "chromosome": "2", "start_pos": 74533350, "end_pos": 74529596, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000115317", "url": "https://www.ensembl.org/id/ENSG00000115317" } ] } } ], "crossref": [ { "id": "ENSG00000115317", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115317", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "3.4.21.108", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=3.4.21.108&UniProtAcc=O43464", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd00987", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00987", 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"606441", "url": "http://www.omim.org/entry/606441", "database": "MIM", "categories": [ "Other" ] }, { "id": "610297", "url": "http://www.omim.org/entry/610297", "database": "MIM", "categories": [ "Other" ] }, { "id": "617248", "url": "http://www.omim.org/entry/617248", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O43464", "url": "https://www.nextprot.org/entry/NX_O43464", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "NDTDAFP", "url": "https://omabrowser.org/oma/group/NDTDAFP/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2159919at2759", "url": "http://www.orthodb.org/?query=2159919at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR22939", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22939", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR22939:SF127", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22939:SF127", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1LCY", "url": "https://www.rcsb.org/structure/1LCY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2PZD", "url": "https://www.rcsb.org/structure/2PZD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5FHT", "url": "https://www.rcsb.org/structure/5FHT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5M3N", "url": "https://www.rcsb.org/structure/5M3N", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5M3O", "url": "https://www.rcsb.org/structure/5M3O", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5TNY", "url": "https://www.rcsb.org/structure/5TNY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5TNZ", "url": "https://www.rcsb.org/structure/5TNZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5TO0", "url": "https://www.rcsb.org/structure/5TO0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5TO1", "url": "https://www.rcsb.org/structure/5TO1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5WYN", "url": "https://www.rcsb.org/structure/5WYN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7VGE", "url": "https://www.rcsb.org/structure/7VGE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8AUK", "url": "https://www.rcsb.org/structure/8AUK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8E2K", "url": "https://www.rcsb.org/structure/8E2K", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF13365", "url": "http://pfam.xfam.org/family/PF13365", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF17820", "url": "http://pfam.xfam.org/family/PF17820", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O43464", "url": "https://pharos.nih.gov/targets/O43464", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O43464", "url": "http://purl.obolibrary.org/obo/PR_O43464", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001308656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308656", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0C4DG44", "url": "https://www.uniprot.org/uniprot/A0A0C4DG44", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0C4DG44-1", "url": "https://www.uniprot.org/uniprot/A0A0C4DG44-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SIX7", "url": "https://www.uniprot.org/uniprot/A0A8Q3SIX7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SIX7-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3SIX7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SJ36", "url": "https://www.uniprot.org/uniprot/A0A8Q3SJ36", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SJ36-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3SJ36-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43464-1", "url": "https://www.uniprot.org/uniprot/O43464-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43464-2", "url": "https://www.uniprot.org/uniprot/O43464-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43464-3", "url": "https://www.uniprot.org/uniprot/O43464-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43464-4", "url": "https://www.uniprot.org/uniprot/O43464-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAAPRAGRGAGWSLRAWRALGGIRWGRRPRLTPDLRALLTSGTSDPRARVTYGTPSLWARLSVGVTEPRACLTSGTPGPRAQLTAVTPDTRTREASENSGTRSRAWLAVALGAGGAVLLLLWGGGRGPPAVLAAVPSPPPASPRSQYNFIADVVEKTAPAVVYIEILDRHPFLGREVPISNGSGFVVAADGLIVTNAHVVADRRRVRVRLLSGDTYEAVVTAVDPVADIATLRIQTKEPLPTLPLGRSADVRQGEFVVAMGSPFALQNTITSGIVSSAQRPARDLGLPQTNVEYIQTDAAIDFGNSGGPLVNLDGEVIGVNTMKVTAGISFAIPSDRLREFLHRGEKKNSSSGISGSQRRYIGVMMLTLSPSILAELQLREPSFPDVQHGVLIHKVILGSPAHRAGLRPGDVILAIGEQMVQNAEDVYEAVRTQSQLAVQIRRGRETLTLYVTPEVTE", "length": 458, "header": "sp|O43464-1|HTRA2_HUMAN Isoform 1 of Serine protease HTRA2, mitochondrial OS=Homo sapiens OX=9606 GN=HTRA2 PE=1 SV=2 CANONICAL=O43464-1" }, "isoforms": [ { "isoform_ac": "A0A0C4DG44-1", "url": "", "sequence": { "sequence": "LRAWRALGGIRWGRRPRLTPDLRALLTSGTSDPRARVTYGTPSLWARLSVGVTEPRACLTSGTPGPRAQLTAVTPDTRTREASENSGTRSRAWLAVALGAGGAVLLLLWGGGRGPPAVLAAVPSPPPASPRSQYNFIADVVEKTAPAVVYIEILDRHPFLGREVPISNGSGFVVAADGLIVTNAHVVADRRRVRVRLLSGDTYEAVVTAVDPVADIATLRIQTKEPLPTLPLGRSADVRQGEFVVAMGSPFALQNTITSGIVSSAQRPARDLGLPQTNVEYIQTDAAIDFGNSGGPLVNLARELGAVSLQDGEVIGVNTMKVTAGISFAIPSDRLREFLHRGEKKNSSSGISGSQRRYIGVMMLTLSPRAGLRPGDVILAIGEQMVQNAEDVYEAVRTQSQLAVQIRRGRETLTLYVTPEVTE", "length": 423, "header": "tr|A0A0C4DG44-1|A0A0C4DG44_HUMAN Computationally mapped isoform of Serine protease HTRA2, mitochondrial OS=Homo sapiens OX=9606 GN=HTRA2 PE=1 SV=1 CANONICAL=O43464-1" }, "locus": { "chromosome": "2", "start_pos": 74532982, "end_pos": 74530007, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000437202.1", "url": "https://www.ensembl.org/id/ENST00000437202.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000399166.1", "url": "https://www.ensembl.org/id/ENSP00000399166.1" } ] } }, { "isoform_ac": "A0A8Q3SIX7-1", "url": "", "sequence": { "sequence": "MAAPRAGRGAGWSLRAWRALGGIRWGRRPRLTPDLRALLTSGTSDPRARVTYGTPSLWARLSVGVTEPRACLTSGTPGPRAQLTAVTPDTRTREASENSGTRSRAWLAVALGAGGAVLLLLWGGGRGPPAVLAAVPSPPPASPRSQYNFIADVVEKTAPAVVYIEILDRHPFLGREVPISNGSGFVVAADGLIVTNAHVVADRRRVRVRLLSGDTYEAVVTAVDPVADIATLRIQTKEPLPTLPLGRSADVRQGEFVVAMGSPFALQNTITSGIVSSAQRPARDLGLPQTNVEYIQTDAAIDFGNSGGPLVNLDGEVIGVNTMKVTAGISFAIPSDRLREFLHRGEKKNSSSGISGSQRRYIGVMMLTLSPRAGLRPGDVILAIGEQMVQNAEDVYEAVRTQSQLAVQIRRGRETLTLYVTPEVTE", "length": 426, "header": "tr|A0A8Q3SIX7-1|A0A8Q3SIX7_HUMAN Computationally mapped isoform of HtrA serine peptidase 2 OS=Homo sapiens OX=9606 GN=HTRA2 PE=1 SV=1 CANONICAL=O43464-1" }, "locus": { "chromosome": "2", "start_pos": 74532982, "end_pos": 74530007, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696727.1", "url": "https://www.ensembl.org/id/ENST00000696727.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512836.1", "url": "https://www.ensembl.org/id/ENSP00000512836.1" } ] } }, { "isoform_ac": "A0A8Q3SJ36-1", "url": "", "sequence": { "sequence": "MAAPRAGRGAGWSLRAWRALGGIRWGRRPRLTPDLRALLTSGTSDPRARVTYGTPSLWARLSVGVTEPRACLTSGTPGPRAQLTAVTPDTRTREASENSGTRSRAWLAVALGAGGAVLLLLWGGGRGPPAVLAAVPSPPPASPRSQYNFIADVVEKTAPAVVYIEILDRHPFLGREVPISNGSGFVVAADGLIVTNAHVVADRRRVRVRLLSGDTYEAVVTAVDPVADIATLRIQTKEPLPTLPLGRSADVRQGEFVVAMGSPFALQNTITSGIVSSAQRPARDLGLPQTNVEYIQTDAAIDFGNSGGPLVNLIPPPESVGPSGATLG", "length": 328, "header": "tr|A0A8Q3SJ36-1|A0A8Q3SJ36_HUMAN Computationally mapped isoform of HtrA serine peptidase 2 OS=Homo sapiens OX=9606 GN=HTRA2 PE=1 SV=1 CANONICAL=O43464-1" }, "locus": { "chromosome": "2", "start_pos": 74531900, "end_pos": 74530007, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696728.1", "url": "https://www.ensembl.org/id/ENST00000696728.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512837.1", "url": "https://www.ensembl.org/id/ENSP00000512837.1" } ] } }, { "isoform_ac": "O43464-1", "url": "", "sequence": { "sequence": "MAAPRAGRGAGWSLRAWRALGGIRWGRRPRLTPDLRALLTSGTSDPRARVTYGTPSLWARLSVGVTEPRACLTSGTPGPRAQLTAVTPDTRTREASENSGTRSRAWLAVALGAGGAVLLLLWGGGRGPPAVLAAVPSPPPASPRSQYNFIADVVEKTAPAVVYIEILDRHPFLGREVPISNGSGFVVAADGLIVTNAHVVADRRRVRVRLLSGDTYEAVVTAVDPVADIATLRIQTKEPLPTLPLGRSADVRQGEFVVAMGSPFALQNTITSGIVSSAQRPARDLGLPQTNVEYIQTDAAIDFGNSGGPLVNLDGEVIGVNTMKVTAGISFAIPSDRLREFLHRGEKKNSSSGISGSQRRYIGVMMLTLSPSILAELQLREPSFPDVQHGVLIHKVILGSPAHRAGLRPGDVILAIGEQMVQNAEDVYEAVRTQSQLAVQIRRGRETLTLYVTPEVTE", "length": 458, "header": "sp|O43464-1|HTRA2_HUMAN Isoform 1 of Serine protease HTRA2, mitochondrial OS=Homo sapiens OX=9606 GN=HTRA2 PE=1 SV=2 CANONICAL=O43464-1" }, "locus": { "chromosome": "2", "start_pos": 74532982, "end_pos": 74530007, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000258080.8", "url": "https://www.ensembl.org/id/ENST00000258080.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000258080.3", "url": "https://www.ensembl.org/id/ENSP00000258080.3" } ] } }, { "isoform_ac": "O43464-2", "url": "", "sequence": { "sequence": "MAAPRAGRGAGWSLRAWRALGGIRWGRRPRLTPDLRALLTSGTSDPRARVTYGTPSLWARLSVGVTEPRACLTSGTPGPRAQLTAVTPDTRTREASENSGTRSRAWLAVALGAGGAVLLLLWGGGRGPPAVLAAVPSPPPASPRSQYNFIADVVEKTAPAVVYIEILDRHPFLGREVPISNGSGFVVAADGLIVTNAHVVADRRRVRVRLLSGDTYEAVVTAVDPVADIATLRIQTKFGNSGGPLVNLDGEVIGVNTMKVTAGISFAIPSDRLREFLHRGEKKNSSSGISGSQRRYIGVMMLTLSPRAGLRPGDVILAIGEQMVQNAEDVYEAVRTQSQLAVQIRRGRETLTLYVTPEVTE", "length": 361, "header": "sp|O43464-2|HTRA2_HUMAN Isoform 2 of Serine protease HTRA2, mitochondrial OS=Homo sapiens OX=9606 GN=HTRA2 PE=1 SV=2 CANONICAL=O43464-1" }, "locus": { "chromosome": "2", "start_pos": 74532982, "end_pos": 74530007, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000352222.7", "url": "https://www.ensembl.org/id/ENST00000352222.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000312893.3", "url": "https://www.ensembl.org/id/ENSP00000312893.3" } ] } }, { "isoform_ac": "O43464-3", "url": "", "sequence": { "sequence": "MAAPRAGRGAGWSLRAWRALGGIRWGRRPRLTPDLRALLTSGTSDPRARVTYGTPSLWARLSVGVTEPRACLTSGTPGPRAQLTAVTPDTRTREASENSGTRSRAWLAVALGAGGAVLLLLWGGGRGPPAVLAAVPSPPPASPRSQYNFIADVVEKTAPAVVYIEILDRHPFLGREVPISNGSGFVVAADGLIVTNAHVVADRRRVRVRLLSGDTYEAVVTAVDPVADIATLRIQTKEPLPTLPLGRSADVRQGEFVVAMGSPFALQNTITSGIVSSAQRPARDLGLPQTNVEYIQTDAAIDFGNSGGPLVNLARELGAVSLQDGEVIGVNTMKVTAGISFAIPSDRLREFLHRGEKKNSSSGISGSQRRYIGVMMLTLSPRAGLRPGDVILAIGEQMVQNAEDVYEAVRTQSQLAVQIRRGRETLTLYVTPEVTE", "length": 436, "header": "sp|O43464-3|HTRA2_HUMAN Isoform 3 of Serine protease HTRA2, mitochondrial OS=Homo sapiens OX=9606 GN=HTRA2 PE=1 SV=2 CANONICAL=O43464-1" }, "locus": {} }, { "isoform_ac": "O43464-4", "url": "", "sequence": { "sequence": "MAAPRAGRGAGWSLRAWRALGGIRWGRRPRLTPDLRALLTSGTSDPRARVTYGTPSLWARLSVGVTEPRACLTSGTPGPRAQLTAVTPDTRTREASENSGTRSRAWLAVALGAGGAVLLLLWGGGRGPPAVLAAVPSPPPASPRSQYNFIADVVEKTAPAVVYIEILDRHPFLGREVPISNGSGFVVAADGLIVTNAHVVADRRRVRVRLLSGDTYEAVVTAVDPVADIATLRIQTKEPLPTLPLGRSADVRQGEFVVAMGSPFALQNTITSGIVSSAQRPARDLGLPQTNVEYIQTDAAIDFGNSGGPLVNLVSETSFLPRIPAPGQCGKGRFPLIQGCLVKFLSSSLLAISQYPTRSPQHLLVLLFGCPHPLLFV", "length": 377, "header": "sp|O43464-4|HTRA2_HUMAN Isoform 4 of Serine protease HTRA2, mitochondrial OS=Homo sapiens OX=9606 GN=HTRA2 PE=1 SV=2 CANONICAL=O43464-1" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 142, "end_pos": 142, "kinase_uniprot_canonical_ac": "P53778-1", "kinase_gene_name": "MAPK12", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43464", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43464" }, { "database": "PubMed", "id": "17906618", "url": "https://glygen.org/publication/PubMed/17906618" } ], "site_lbl": "Ser142" }, { "start_pos": 142, "end_pos": 142, "kinase_uniprot_canonical_ac": "Q9BXM7-1", "kinase_gene_name": "PINK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43464", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43464" }, { "database": "PubMed", "id": "17906618", "url": "https://glygen.org/publication/PubMed/17906618" } ], "site_lbl": "Ser142" }, { "start_pos": 142, "end_pos": 142, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43464", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43464" }, { "database": "PubMed", "id": "21701498", "url": "https://glygen.org/publication/PubMed/21701498" } ], "site_lbl": "Ser142" }, { "start_pos": 212, "end_pos": 212, "kinase_uniprot_canonical_ac": "P31749-1", "kinase_gene_name": "AKT1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43464", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43464" }, { "database": "PubMed", "id": "17311912", "url": "https://glygen.org/publication/PubMed/17311912" } ], "site_lbl": "Ser212" }, { "start_pos": 212, "end_pos": 212, "kinase_uniprot_canonical_ac": "P31751-1", "kinase_gene_name": "AKT2", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43464", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43464" }, { "database": "PubMed", "id": "17311912", "url": "https://glygen.org/publication/PubMed/17311912" } ], "site_lbl": "Ser212" }, { "start_pos": 212, "end_pos": 212, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43464", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43464" }, { "database": "PubMed", "id": "17311912", "url": "https://glygen.org/publication/PubMed/17311912" }, { "database": "PubMed", "id": "27825081", "url": "https://glygen.org/publication/PubMed/27825081" } ], "site_lbl": "Ser212" }, { "start_pos": 400, "end_pos": 400, "kinase_uniprot_canonical_ac": "Q00535-1", "kinase_gene_name": "CDK5", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43464", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43464" }, { "database": "PubMed", "id": "21701498", "url": "https://glygen.org/publication/PubMed/21701498" } ], "site_lbl": "Ser400" }, { "start_pos": 400, "end_pos": 400, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43464", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43464" }, { "database": "PubMed", "id": "31848261", "url": "" }, { "database": "PubMed", "id": "21701498", "url": "https://glygen.org/publication/PubMed/21701498" } ], "site_lbl": "Ser400" } ], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Characterization of a novel human serine protease that has extensive homology to bacterial heat shock endoprotease HtrA and is regulated by kidney ischemia.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Faccio L, Fusco C, Chen A, Martinotti S, Bonventre JV, Zervos AS", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "reference": [ { "type": "PubMed", "id": "10644717", "url": "https://glygen.org/publication/PubMed/10644717" } ] }, { "title": "Expression, purification, and functional analysis of the human serine protease HtrA2.", "journal": "Protein expression and purification", "date": "2000", "authors": "Savopoulos JW, Carter PS, Turconi S, Pettman GR, Karran EH, Gray CW, Ward RV, Jenkins O, Creasy CL", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "reference": [ { "type": "PubMed", "id": "10873535", "url": "https://glygen.org/publication/PubMed/10873535" } ] }, { "title": "Characterization of human HtrA2, a novel serine protease involved in the mammalian cellular stress response.", "journal": "Eur. J. Biochem.", "date": "2000", "authors": "Gray C W, Ward R V, Karran E, Turconi S, Rowles A, Viglienghi D, Southan C, Barton A, Fantom K G, West A, Savopoulos J, Hassan N J, Clinkenbeard H, Hanning C, Amegadzie B, Davis J B, Dingwall C, Livi G P, Creasy C L", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "reference": [ { "type": "PubMed", "id": "10971580", "url": "https://glygen.org/publication/PubMed/10971580" } ] }, { "title": "Tissue-specific splicing of Omi stress-regulated endoprotease leads to an inactive protease with a modified PDZ motif.", "journal": "Genomics", "date": "2000", "authors": "Faccio L, Fusco C, Viel A, Zervos A S", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "reference": [ { "type": "PubMed", "id": "10995577", "url": "https://glygen.org/publication/PubMed/10995577" } ] }, { "title": "A serine protease, HtrA2, is released from the mitochondria and interacts with XIAP, inducing cell death.", "journal": "Molecular cell", "date": "2001", "authors": "Suzuki Y, Imai Y, Nakayama H, Takahashi K, Takio K, Takahashi R", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "reference": [ { "type": "PubMed", "id": "11583623", "url": "https://glygen.org/publication/PubMed/11583623" } ] }, { "title": "Functional proteolytic complexes of the human mitochondrial ATP-dependent protease, hClpXP.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Kang SG, Ortega J, Singh SK, Wang N, Huang NN, Steven AC, Maurizi MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "11923310", "url": "https://glygen.org/publication/PubMed/11923310" } ] }, { "title": "Structural insights into the pro-apoptotic function of mitochondrial serine protease HtrA2/Omi.", "journal": "Nature structural biology", "date": "2002", "authors": "Li W, Srinivasula SM, Chai J, Li P, Wu JW, Zhang Z, Alnemri ES, Shi Y", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "reference": [ { "type": "PubMed", "id": "11967569", "url": "https://glygen.org/publication/PubMed/11967569" } ] }, { "title": "Lon protease preferentially degrades oxidized mitochondrial aconitase by an ATP-stimulated mechanism.", "journal": "Nature cell biology", "date": "2002", "authors": "Bota DA, Davies KJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "12198491", "url": "https://glygen.org/publication/PubMed/12198491" } ] }, { "title": "Mitochondrial protease Omi/HtrA2 enhances caspase activation through multiple pathways.", "journal": "Cell death and differentiation", "date": "2004", "authors": "Suzuki Y, Takahashi-Niki K, Akagi T, Hashikawa T, Takahashi R", "evidence": [ { "database": "RefSeq", "id": "NP_001308656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308656" } ], "reference": [ { "type": "PubMed", "id": "14605674", "url": "https://glygen.org/publication/PubMed/14605674" } ] }, { "title": "Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia.", "journal": "The Journal of cell biology", "date": "2003", "authors": "Atorino L, Silvestri L, Koppen M, Cassina L, Ballabio A, Marconi R, Langer T, Casari G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "14623864", "url": "https://glygen.org/publication/PubMed/14623864" } ] }, { "title": "Dual role of BRUCE as an antiapoptotic IAP and a chimeric E2/E3 ubiquitin ligase.", "journal": "Molecular cell", "date": "2004", "authors": "Bartke T, Pohl C, Pyrowolakis G, Jentsch S", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "reference": [ { "type": "PubMed", "id": "15200957", "url": "https://glygen.org/publication/PubMed/15200957" } ] }, { "title": "Crystallography and mutagenesis point to an essential role for the N-terminus of human mitochondrial ClpP.", "journal": "Journal of structural biology", "date": "2004", "authors": "Kang SG, Maurizi MR, Thompson M, Mueser T, Ahvazi B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "15522782", "url": "https://glygen.org/publication/PubMed/15522782" } ] }, { "title": "Cleavage site selection within a folded substrate by the ATP-dependent lon protease.", "journal": "The Journal of biological chemistry", "date": "2005-07-01", "authors": "Ondrovicov\u00e1 Gabriela, Liu Tong, Singh Kamalendra, Tian Bin, Li Hong, Gakh Oleksandr, Perecko Dusan, Janata Jir\u00ed, Granot Zvi, Orly Joseph, Kutejov\u00e1 Eva, Suzuki Carolyn K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "15870080", "url": "https://glygen.org/publication/PubMed/15870080" } ] }, { "title": "Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease.", "journal": "Human molecular genetics", "date": "2005", "authors": "Strauss KM, Martins LM, Plun-Favreau H, Marx FP, Kautzmann S, Berg D, Gasser T, Wszolek Z, Muller T, Bornemann A, Wolburg H, Downward J, Riess O, Schulz JB, Kruger R", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "reference": [ { "type": "PubMed", "id": "15961413", "url": "https://glygen.org/publication/PubMed/15961413" } ] }, { "title": "Human mitochondrial ClpP is a stable heptamer that assembles into a tetradecamer in the presence of ClpX.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Kang SG, Dimitrova MN, Ortega J, Ginsburg A, Maurizi MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "16115876", "url": "https://glygen.org/publication/PubMed/16115876" } ] }, { "title": "Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia.", "journal": "Molecular and cellular biology", "date": "2007", "authors": "Koppen M, Metodiev MD, Casari G, Rugarli EI, Langer T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "17101804", "url": "https://glygen.org/publication/PubMed/17101804" } ] }, { "title": "GRIM-19 associates with the serine protease HtrA2 for promoting cell death.", "journal": "Oncogene", "date": "2007", "authors": "Ma X, Kalakonda S, Srinivasula SM, Reddy SP, Platanias LC, Kalvakolanu DV", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "17297443", "url": "https://glygen.org/publication/PubMed/17297443" } ] }, { "title": "Akt attenuation of the serine protease activity of HtrA2/Omi through phosphorylation of serine 212.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Yang L, Sun M, Sun XM, Cheng GZ, Nicosia SV, Cheng JQ", "evidence": [ { "database": "iPTMnet", "id": "O43464", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43464" } ], "reference": [ { "type": "PubMed", "id": "17311912", "url": "https://glygen.org/publication/PubMed/17311912" } ] }, { "title": "Turnover of mitochondrial steroidogenic acute regulatory (StAR) protein by Lon protease: the unexpected effect of proteasome inhibitors.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2007-09", "authors": "Granot Zvi, Kobiler Oren, Melamed-Book Naomi, Eimerl Sarah, Bahat Assaf, Lu Bin, Braun Sergei, Maurizi Michael R, Suzuki Carolyn K, Oppenheim Amos B, Orly Joseph", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "17579211", "url": "https://glygen.org/publication/PubMed/17579211" } ] }, { "title": "The mitochondrial protease HtrA2 is regulated by Parkinson's disease-associated kinase PINK1.", "journal": "Nature cell biology", "date": "2007", "authors": "Plun-Favreau H, Klupsch K, Moisoi N, Gandhi S, Kjaer S, Frith D, Harvey K, Deas E, Harvey RJ, McDonald N, Wood NW, Martins LM, Downward J", "evidence": [ { "database": "iPTMnet", "id": "O43464", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43464" } ], "reference": [ { "type": "PubMed", "id": "17906618", "url": "https://glygen.org/publication/PubMed/17906618" } ] }, { "title": "Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls.", "journal": "Human molecular genetics", "date": "2008", "authors": "Simon-Sanchez J, Singleton AB", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "reference": [ { "type": "PubMed", "id": "18364387", "url": "https://glygen.org/publication/PubMed/18364387" } ] }, { "title": "Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease.", "journal": "Human mutation", "date": "2008", "authors": "Bogaerts V, Nuytemans K, Reumers J, Pals P, Engelborghs S, Pickut B, Corsmit E, Peeters K, Schymkowitz J, De Deyn PP, Cras P, Rousseau F, Theuns J, Van Broeckhoven C", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "reference": [ { "type": "PubMed", "id": "18401856", "url": "https://glygen.org/publication/PubMed/18401856" } ] }, { "title": "THAP5 is a human cardiac-specific inhibitor of cell cycle that is cleaved by the proapoptotic Omi/HtrA2 protease during cell death.", "journal": "American journal of physiology. Heart and circulatory physiology", "date": "2009", "authors": "Balakrishnan MP, Cilenti L, Mashak Z, Popat P, Alnemri ES, Zervos AS", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "reference": [ { "type": "PubMed", "id": "19502560", "url": "https://glygen.org/publication/PubMed/19502560" } ] }, { "title": "Crystal structure of the ATPase domain of the human AAA+ protein paraplegin/SPG7.", "journal": "PloS one", "date": "2009", "authors": "Karlberg T, van den Berg S, Hammarstrom M, Sagemark J, Johansson I, Holmberg-Schiavone L, Schuler H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "19841671", "url": "https://glygen.org/publication/PubMed/19841671" } ] }, { "title": "Phosphorylation of HtrA2 by cyclin-dependent kinase-5 is important for mitochondrial function.", "journal": "Cell death and differentiation", "date": "2012", "authors": "Fitzgerald JC, Camprubi MD, Dunn L, Wu HC, Ip NY, Kruger R, Martins LM, Wood NW, Plun-Favreau H", "evidence": [ { "database": "iPTMnet", "id": "O43464", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43464" } ], "reference": [ { "type": "PubMed", "id": "21701498", "url": "https://glygen.org/publication/PubMed/21701498" } ] }, { "title": "YME1L controls the accumulation of respiratory chain subunits and is required for apoptotic resistance, cristae morphogenesis, and cell proliferation.", "journal": "Molecular biology of the cell", "date": "2012", "authors": "Stiburek L, Cesnekova J, Kostkova O, Fornuskova D, Vinsova K, Wenchich L, Houstek J, Zeman J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "22262461", "url": "https://glygen.org/publication/PubMed/22262461" } ] }, { "title": "Substrate recognition and processing by a Walker B mutant of the human mitochondrial AAA+ protein CLPX.", "journal": "Journal of structural biology", "date": "2012", "authors": "Lowth BR, Kirstein-Miles J, Saiyed T, Brotz-Oesterhelt H, Morimoto RI, Truscott KN, Dougan DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "22710082", "url": "https://glygen.org/publication/PubMed/22710082" } ] }, { "title": "Phosphorylation of human TFAM in mitochondria impairs DNA binding and promotes degradation by the AAA+ Lon protease.", "journal": "Molecular cell", "date": "2013", "authors": "Lu B, Lee J, Nie X, Li M, Morozov YI, Venkatesh S, Bogenhagen DF, Temiakov D, Suzuki CK", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "23201127", "url": "https://glygen.org/publication/PubMed/23201127" } ] }, { "title": "Identification of a novel anti-apoptotic E3 ubiquitin ligase that ubiquitinates antagonists of inhibitor of apoptosis proteins SMAC, HtrA2, and ARTS.", "journal": "J. Biol. Chem.", "date": "2013", "authors": "Kim JB, Kim SY, Kim BM, Lee H, Kim I, Yun J, Jo Y, Oh T, Jo Y, Chae HD, Shin DY", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "reference": [ { "type": "PubMed", "id": "23479728", "url": "https://glygen.org/publication/PubMed/23479728" } ] }, { "title": "TRIAP1/PRELI complexes prevent apoptosis by mediating intramitochondrial transport of phosphatidic acid.", "journal": "Cell metabolism", "date": "2013", "authors": "Potting C, Tatsuta T, Konig T, Haag M, Wai T, Aaltonen MJ, Langer T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "23931759", "url": "https://glygen.org/publication/PubMed/23931759" } ] }, { "title": "Mutations to a glycine loop in the catalytic site of human Lon changes its protease, peptidase and ATPase activities.", "journal": "The FEBS journal", "date": "2014", "authors": "Ambro L, Pevala V, Ondrovicova G, Bellova J, Kunova N, Kutejova E, Bauer J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "24520911", "url": "https://glygen.org/publication/PubMed/24520911" } ] }, { "title": "Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2014", "authors": "Unal Gulsuner H, Gulsuner S, Mercan FN, Onat OE, Walsh T, Shahin H, Lee MK, Dogu O, Kansu T, Topaloglu H, Elibol B, Akbostanci C, King MC, Ozcelik T, Tekinay AB", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "reference": [ { "type": "PubMed", "id": "25422467", "url": "https://glygen.org/publication/PubMed/25422467" } ] }, { "title": "Quality control of mitochondrial protein synthesis is required for membrane integrity and cell fitness.", "journal": "The Journal of cell biology", "date": "2015", "authors": "Richter U, Lahtinen T, Marttinen P, Suomi F, Battersby BJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "26504172", "url": "https://glygen.org/publication/PubMed/26504172" } ] }, { "title": "Reciprocal Degradation of YME1L and OMA1 Adapts Mitochondrial Proteolytic Activity during Stress.", "journal": "Cell reports", "date": "2016", "authors": "Rainbolt TK, Lebeau J, Puchades C, Wiseman RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "26923599", "url": "https://glygen.org/publication/PubMed/26923599" } ] }, { "title": "Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria.", "journal": "Journal of medical genetics", "date": "2016", "authors": "Mandel H, Saita S, Edvardson S, Jalas C, Shaag A, Goldsher D, Vlodavsky E, Langer T, Elpeleg O", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "reference": [ { "type": "PubMed", "id": "27208207", "url": "https://glygen.org/publication/PubMed/27208207" } ] }, { "title": "Novel Mechanisms for Heme-dependent Degradation of ALAS1 Protein as a Component of Negative Feedback Regulation of Heme Biosynthesis.", "journal": "The Journal of biological chemistry", "date": "2016", "authors": "Kubota Y, Nomura K, Katoh Y, Yamashita R, Kaneko K, Furuyama K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "27496948", "url": "https://glygen.org/publication/PubMed/27496948" } ] }, { "title": "Analysis of protein-coding genetic variation in 60,706 humans.", "journal": "Nature", "date": "2016", "authors": "Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "reference": [ { "type": "PubMed", "id": "27535533", "url": "https://glygen.org/publication/PubMed/27535533" } ] }, { "title": "The m-AAA Protease Associated with Neurodegeneration Limits MCU Activity in Mitochondria.", "journal": "Molecular cell", "date": "2016", "authors": "Konig T, Troder SE, Bakka K, Korwitz A, Richter-Dennerlein R, Lampe PA, Patron M, Muhlmeister M, Guerrero-Castillo S, Brandt U, Decker T, Lauria I, Paggio A, Rizzuto R, Rugarli EI, De Stefani D, Langer T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "27642048", "url": "https://glygen.org/publication/PubMed/27642048" } ] }, { "title": "Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.", "journal": "Journal of inherited metabolic disease", "date": "2017", "authors": "Olahova M, Thompson K, Hardy SA, Barbosa IA, Besse A, Anagnostou ME, White K, Davey T, Simpson MA, Champion M, Enns G, Schelley S, Lightowlers RN, Chrzanowska-Lightowlers ZM, McFarland R, Deshpande C, Bonnen PE, Taylor RW", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "reference": [ { "type": "PubMed", "id": "27696117", "url": "https://glygen.org/publication/PubMed/27696117" } ] }, { "title": "Akt attenuation of the serine protease activity of HtrA2/Omi through phosphorylation of serine 212.", "journal": "The Journal of biological chemistry", "date": "2016", "authors": "Yang L, Sun M, Sun XM, Cheng GZ, Nicosia SV, Cheng JQ", "evidence": [ { "database": "iPTMnet", "id": "O43464", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43464" } ], "reference": [ { "type": "PubMed", "id": "27825081", "url": "https://glygen.org/publication/PubMed/27825081" } ] }, { "title": "The role of Lon-mediated proteolysis in the dynamics of mitochondrial nucleic acid-protein complexes.", "journal": "Scientific reports", "date": "2017-04-04", "authors": "Kunov\u00e1 Nina, Ondrovi\u010dov\u00e1 Gabriela, Bauer Jacob A, Bellov\u00e1 Jana, Ambro \u013dubo\u0161, Martin\u00e1kov\u00e1 Lucia, Kotrasov\u00e1 Veronika, Kutejov\u00e1 Eva, Pevala Vladim\u00edr", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "28377575", "url": "https://glygen.org/publication/PubMed/28377575" } ] }, { "title": "PARL partitions the lipid transfer protein STARD7 between the cytosol and mitochondria.", "journal": "The EMBO journal", "date": "2018", "authors": "Saita S, Tatsuta T, Lampe PA, Konig T, Ohba Y, Langer T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "29301859", "url": "https://glygen.org/publication/PubMed/29301859" } ] }, { "title": "Dissecting Substrate Specificities of the Mitochondrial AFG3L2 Protease.", "journal": "Biochemistry", "date": "2018", "authors": "Ding B, Martin DW, Rampello AJ, Glynn SE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "29932645", "url": "https://glygen.org/publication/PubMed/29932645" } ] }, { "title": "Multiple domains of bacterial and human Lon proteases define substrate selectivity.", "journal": "Emerging microbes & infections", "date": "2018", "authors": "He L, Luo D, Yang F, Li C, Zhang X, Deng H, Zhang JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "30120231", "url": "https://glygen.org/publication/PubMed/30120231" } ] }, { "title": "Unique Structural Features of the Mitochondrial AAA+ Protease AFG3L2 Reveal the Molecular Basis for Activity in Health and Disease.", "journal": "Molecular cell", "date": "2019", "authors": "Puchades C, Ding B, Song A, Wiseman RL, Lander GC, Glynn SE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "31327635", "url": "https://glygen.org/publication/PubMed/31327635" } ] }, { "title": "Lipid signalling drives proteolytic rewiring of mitochondria by YME1L.", "journal": "Nature", "date": "2019", "authors": "MacVicar T, Ohba Y, Nolte H, Mayer FC, Tatsuta T, Sprenger HG, Lindner B, Zhao Y, Li J, Bruns C, Kruger M, Habich M, Riemer J, Schwarzer R, Pasparakis M, Henschke S, Bruning JC, Zamboni N, Langer T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "31695197", "url": "https://glygen.org/publication/PubMed/31695197" } ] }, { "title": "Mitochondrial Nuclear Retrograde Regulator 1 (MNRR1) rescues the cellular phenotype of MELAS by inducing homeostatic mechanisms.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2020", "authors": "Aras S, Purandare N, Gladyck S, Somayajulu-Nitu M, Zhang K, Wallace DC, Grossman LI", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "33257573", "url": "https://glygen.org/publication/PubMed/33257573" } ] }, { "title": "Heme-dependent recognition of 5-aminolevulinate synthase by the human mitochondrial molecular chaperone ClpX.", "journal": "FEBS letters", "date": "2021", "authors": "Nomura K, Kitagawa Y, Aihara M, Ohki Y, Furuyama K, Hirokawa T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "34704252", "url": "https://glygen.org/publication/PubMed/34704252" } ] }, { "title": "Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA.", "journal": "Cells", "date": "2021", "authors": "Key J, Torres-Odio S, Bach NC, Gispert S, Koepf G, Reichlmeir M, West AP, Prokisch H, Freisinger P, Newman WG, Shalev S, Sieber SA, Wittig I, Auburger G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "34943861", "url": "https://glygen.org/publication/PubMed/34943861" } ] }, { "title": "Role of conserved regulatory loop residues in allosteric propagation of serine protease HtrA2.", "journal": "Biochemical and biophysical research communications", "date": "2022", "authors": "Parui AL, Singh N, Dutta S, Bose K", "evidence": [ { "database": "RefSeq", "id": "NP_001308656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308656" } ], "reference": [ { "type": "PubMed", "id": "35074587", "url": "https://glygen.org/publication/PubMed/35074587" } ] }, { "title": "A new function for the serine protease HtrA2 in controlling radiation-induced senescence in cancer cells.", "journal": "Molecular oncology", "date": "2022", "authors": "Hammer L, Levin-Salomon V, Yaeli-Slonim N, Weiss M, Dekel-Bird NP, Olender T, Porat Z, Winograd-Katz S, Savidor A, Levin Y, Bialik S, Geiger B, Kimchi A", "evidence": [ { "database": "RefSeq", "id": "NP_001308656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308656" } ], "reference": [ { "type": "PubMed", "id": "35122388", "url": "https://glygen.org/publication/PubMed/35122388" } ] }, { "title": "Catalytic cycling of human mitochondrial Lon protease.", "journal": "Structure (London, England : 1993)", "date": "2022", "authors": "Mohammed I, Schmitz KA, Schenck N, Balasopoulos D, Topitsch A, Maier T, Abrahams JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "35870450", "url": "https://glygen.org/publication/PubMed/35870450" } ] }, { "title": "HtrA2 regulates \u03b1-Synuclein-mediated mitochondrial reactive oxygen species production in the mitochondria of microglia.", "journal": "Biochemical and biophysical research communications", "date": "2023-01-01", "authors": "Nam Min-Kyung, Seong Youngmo, Jeong Gi Heon, Yoo Seung-Ah, Rhim Hyangshuk", "evidence": [ { "database": "RefSeq", "id": "NP_001308656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308656" } ], "reference": [ { "type": "PubMed", "id": "36442236", "url": "https://glygen.org/publication/PubMed/36442236" } ] }, { "title": "LONP1 targets HMGCS2 to protect mitochondrial function and attenuate chronic kidney disease.", "journal": "EMBO molecular medicine", "date": "2023-02-08", "authors": "Bai Mi, Wu Mengqiu, Jiang Mingzhu, He Jia, Deng Xu, Xu Shuang, Fan Jiaojiao, Miao Mengqiu, Wang Ting, Li Yuting, Yu Xiaowen, Wang Lin, Zhang Yue, Huang Songming, Yang Li, Jia Zhanjun, Zhang Aihua", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "36629048", "url": "https://glygen.org/publication/PubMed/36629048" } ] }, { "title": "Role of high-temperature requirement serine protease A 2 in rheumatoid inflammation.", "journal": "Arthritis research & therapy", "date": "2023-06-07", "authors": "Jeong Gi Heon, Nam Min-Kyung, Hur Wonhee, Heo Seolhee, Lee Saseong, Choi Eunbyeol, Park Jae Hyung, Park Youngjae, Kim Wan-Uk, Rhim Hyangshuk, Yoo Seung-Ah", "evidence": [ { "database": "RefSeq", "id": "NP_001308656", 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"https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "regulation of multicellular organism growth", "id": "GO:0040014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040014", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "positive regulation of cysteine-type endopeptidase activity involved in apoptotic process", "id": "GO:0043280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043280", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "regulation of autophagy of mitochondrion", "id": "GO:1903146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903146", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "positive regulation of protein targeting to mitochondrion", "id": "GO:1903955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903955", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "cellular response to heat", "id": "GO:0034605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034605", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "ceramide metabolic process", "id": "GO:0006672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006672", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "cellular response to growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "adult walking behavior", "id": "GO:0007628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007628", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:0008630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008630", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "execution phase of apoptosis", "id": "GO:0097194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097194", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "positive regulation of extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:2001241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001241", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "protein autoprocessing", "id": "GO:0016540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016540", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "neuron development", "id": "GO:0048666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048666", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway", "id": "GO:1902176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902176", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "cellular response to interferon-beta", "id": "GO:0035458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035458", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "negative regulation of cell cycle", "id": "GO:0045786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045786", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "response to herbicide", "id": "GO:0009635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009635", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "programmed cell death", "id": "GO:0012501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012501", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "positive regulation of mitochondrion organization", "id": "GO:0010822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010822", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "pentacyclic triterpenoid metabolic process", "id": "GO:0019742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019742", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "negative regulation of mitophagy in response to mitochondrial depolarization", "id": "GO:1904924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904924", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 13, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "mitochondrial intermembrane space", "id": "GO:0005758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005758", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "CD40 receptor complex", "id": "GO:0035631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035631", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "serine-type endopeptidase complex", "id": "GO:1905370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905370", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 181, "end_pos": 183, "annotation": "n_glycosylation_sequon" }, { "start_pos": 349, "end_pos": 351, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Autoproteolytically activated.", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" }, { "database": "PubMed", "id": "10873535", "url": "https://glygen.org/publication/PubMed/10873535" } ] } ], "interactions": [], "reactions": [ { "id": "R-HSA-9839072", "name": "HTRA2 degrades APP (Amyloid-beta precursor protein)", "equation": "", "summary": "About 25-30% of cellular amyloid precursor protein isoform 695 (APP695) is located in mitochondria, where its accumulation can cause mitochondrial dysfunction (Anandatheerthavarada et al. 2003). HTRA2, located in the mitochondrial intermembrane space, cleaves APP695 to yield a 161 amino acid C-terminal fragment (C161) that is translocated to the cytosol (Park et al. 2006). The fate of the remaining 534 amino acid N-terminal fragment of the APP695 protein is unknown. The amyloid-beta cleavage product of APP, which is associated with Alzheimer's Disease, binds HTRA2 in the cytosol (Park et al. 2004).", "cellular_location": "mitochondrial inner membrane", "input_participant_list": [ "R-HSA-9839060" ], "output_participant_list": [ "R-HSA-9839084" ], "enzyme_list": [ "O43464-1" ], "evidence": [ { "id": "R-HSA-9839072", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9839072" } ] }, { "id": "R-HSA-9839073", "name": "HTRA2 binds NDUFA13 (GRIM-19)", "equation": "", "summary": "NDUFA13 (GRIM-19), a subunit of mitochondrial respiratory complex I, binds HTRA2 (OMI), a serine protease, in the mitochondrion and promotes apoptotic activity of HTRA2 (Ma et al. 2007, Kummari et al. 2021). The binding of NDUFA13 allosterically activates the protease activity of HTRA2, which then cleaves NDUFA13 at six sites (Kummari et al. 2012). Activated HTRA2 also cleaves XIAP to enhance apoptosis (Ma et al. 2007). The interaction between HTRA2 and NDUFA13 is enhanced by interferon-beta and retinoic acid (Ma et al. 2007). Molecular modeling indicates that a HTRA2 trimer binds amino acid residues 102-144 of NDUFA13 (Kummari et al. 2021).", "cellular_location": "mitochondrial inner membrane, mitochondrial intermembrane space", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O43464-1" ], "evidence": [ { "id": "R-HSA-9839073", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9839073" } ] }, { "id": "R-HSA-9839110", "name": "HTRA2 degrades NDUFA13 (GRIM-19)", "equation": "", "summary": "HTRA2 (OMI) cleaves NDUFA13 (GRIM-19) at six sites (Kummari et al. 2021). Interaction of NDUFA13 with the N-terminus of HTRA2 allosterically activates the protease activity of HTRA2 (Kummari et al. 2021). Self-cleavage by HTRA2 releases HTRA2 into the cytosol where it activates apoptosis by binding and cleaving inhibitors of apoptosis (reviewed in Chakraborty et al. 2022). NDUFA13 acts to promote the apoptotic activity of HTRA2 (Ma et al. 2007). The effect of the cleavage of NDUFA13 on apoptosis is unclear.", "cellular_location": "mitochondrial inner membrane", "input_participant_list": [], "output_participant_list": [ "R-HSA-9839958", "R-HSA-9839959", "R-HSA-9839961", "R-HSA-9839963", "R-HSA-9839964", "R-HSA-9839966", "R-HSA-9839968" ], "enzyme_list": [ "O43464-1" ], "evidence": [ { "id": "R-HSA-9839110", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9839110" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-9839060", "participant_name": "APP [mitochondrial inner membrane]", "crossref": [ { "id": "P05067", "database": "UniProt", "url": "" }, { "id": "4MDR", "database": "PDB", "url": "" }, { "id": "6SZF", "database": "PDB", "url": "" }, { "id": "2M4J", "database": "PDB", "url": "" }, { "id": "NP_000475.1", "database": "RefSeq", "url": "" }, { "id": "4MVI", "database": "PDB", "url": "" }, { "id": "6TI6", "database": "PDB", "url": "" }, { "id": "2M9S", "database": "PDB", "url": "" }, 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