{ "uniprot_canonical_ac": "O43464-1", "uniprot_ac": "O43464", "uniprot_id": "HTRA2_HUMAN", "mass": { "chemical_mass": 48841.0, "monoisotopic_mass": 48841.0 }, "refseq": { "ac": "NP_001308657", "name": "serine protease HTRA2, mitochondrial isoform 4 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_001308657" }, "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_001308657", "id": "NP_001308657" }, { "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" }, { "name": "serine protease HTRA2, mitochondrial isoform 4 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308657", "id": "NP_001308657" } ], "function": [ { "annotation": "A new function for the serine protease HtrA2 in controlling radiation-induced senescence in cancer cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001308657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308657" }, { "database": "PubMed", "id": "35122388", "url": "https://glygen.org/publication/PubMed/35122388" }, { "database": "RefSeq", "id": "NP_001308656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308656" } ] }, { "annotation": "HtrA2 regulates alpha-Synuclein-mediated mitochondrial reactive oxygen species production in the mitochondria of microglia.", "evidence": [ { "database": "RefSeq", "id": "NP_001308657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308657" }, { "database": "PubMed", "id": "36442236", "url": "https://glygen.org/publication/PubMed/36442236" }, { "database": "RefSeq", "id": "NP_001308656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308656" } ] }, { "annotation": "Protease activity of Omi/HtrA2 promotes caspase activation through multiple pathways", "evidence": [ { "database": "RefSeq", "id": "NP_001308657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308657" }, { "database": "PubMed", "id": "14605674", "url": "https://glygen.org/publication/PubMed/14605674" }, { "database": "RefSeq", "id": "NP_001308656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308656" } ] }, { "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_001308657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308657" }, { "database": "PubMed", "id": "35074587", "url": "https://glygen.org/publication/PubMed/35074587" }, { "database": "RefSeq", "id": "NP_001308656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308656" } ] }, { "annotation": "Role of high-temperature requirement serine protease A 2 in rheumatoid inflammation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001308657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308657" }, { "database": "PubMed", "id": "37287073", "url": "https://glygen.org/publication/PubMed/37287073" }, { "database": "RefSeq", "id": "NP_001308656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308656" } ] }, { "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_001308657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308657" }, { "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": 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"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": 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"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": 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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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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, 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"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": 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"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": "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": "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": "J. Biol. Chem.", "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 Expr. Purif.", "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": "West A., Southan C., Amegadzie B., Dingwall C., Hassan N.J., Barton A., Creasy C.L., Livi G.P., Clinkenbeard H., Davis J.B., Fantom K.G., Gray C.W., Hanning C., Karran E.H., Rowles A., Savopoulos J.W., Turconi S., Viglienghi D., Ward R.V.", "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": "Zervos A.S., Viel A., Fusco C., Faccio L.", "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": "Mol. 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": "Structural insights into the pro-apoptotic function of mitochondrial serine protease HtrA2/Omi.", "journal": "Nat. Struct. Biol.", "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": "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" }, { "database": "RefSeq", "id": "NP_001308657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308657" } ], "reference": [ { "type": "PubMed", "id": "14605674", "url": "https://glygen.org/publication/PubMed/14605674" } ] }, { "title": "Dual role of BRUCE as an antiapoptotic IAP and a chimeric E2/E3 ubiquitin ligase.", "journal": "Mol. 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": "Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease.", "journal": "Hum. Mol. Genet.", "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": "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": "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": "Hum. Mol. Genet.", "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": "Hum. Mutat.", "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": "Am. J. Physiol.", "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": "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": "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": "Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "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": "Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria.", "journal": "J. Med. Genet.", "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": "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": "Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.", "journal": "J. Inherit. Metab. Dis.", "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": "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" }, { "database": "RefSeq", "id": "NP_001308657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308657" } ], "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_001308657", "url": 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"pmid": "" } ] }, { "name": "Biological Process", "total": 31, "go_terms": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway", "id": "GO:2001269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001269", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "https://www.uniprot.org/uniprot/O43464" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "O43464", "url": "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": [ { 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"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 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