{ "uniprot_canonical_ac": "Q92851-1", "uniprot_ac": "Q92851", "uniprot_id": "CASPA_HUMAN", "mass": { "chemical_mass": 58951.0, "monoisotopic_mass": 58951.0 }, "refseq": { "ac": "NP_001193453", "name": "caspase-10 isoform 6 preproprotein", "summary": "This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein cleaves and activates caspases 3 and 7, and the protein itself is processed by caspase 8. Mutations in this gene are associated with type IIA autoimmune lymphoproliferative syndrome, non-Hodgkin lymphoma and gastric cancer. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193453" }, "gene_names": [ { "name": "CASP10", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q92851", "id": "Q92851" }, { "name": "ALPS2; FLICE-2; FLICE2; MCH4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193453", "id": "NP_001193453" }, { "name": "CASP10", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193453", "id": "NP_001193453" }, { "name": "MCH4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q92851", "id": "Q92851" } ], "protein_names": [ { "name": "Caspase-10", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q92851" }, { "name": "3.4.22.63", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q92851" }, { "name": "Apoptotic protease Mch-4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q92851" }, { "name": "CASP-10", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q92851" }, { "name": "FAS-associated death domain protein interleukin-1B-converting enzyme 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q92851" }, { "name": "FLICE2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q92851" }, { "name": "ICE-like apoptotic protease 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q92851" }, { "name": "caspase 10, apoptosis-related cysteine protease; FADD-like ICE2; apoptotic protease MCH-4; ICE-like apoptotic protease 4; interleukin-1B-converting enzyme 2; CASP-10; FAS-associated death domain protein interleukin-1B-converting enzyme 2; caspase 10 apoptosis-related cysteine peptidase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193453", "id": "NP_001193453" }, { "name": "caspase-10 isoform 6 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193453", "id": "NP_001193453" } ], "function": [ { "annotation": "Caspase-10 affects the pathogenesis of primary biliary cholangitis by regulating inflammatory cell death.", "evidence": [ { "database": "RefSeq", "id": "NP_001193453", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193453" }, { "database": "PubMed", "id": "36323068", "url": "https://glygen.org/publication/PubMed/36323068" } ] }, { "annotation": "Involved in the activation cascade of caspases responsible for apoptosis execution. Recruited to both Fas- and TNFR-1 receptors in a FADD dependent manner. May participate in the granzyme B apoptotic pathways. Cleaves and activates effector caspases CASP3, CASP4, CASP6, CASP7, CASP8 and CASP9. Hydrolyzes the small- molecule substrates, Tyr-Val-Ala-Asp-|-AMC and Asp-Glu-Val-Asp-|-AMC.", "evidence": [ { "database": "UniProtKB", "id": "Q92851", "url": "https://www.uniprot.org/uniprot/Q92851#function" }, { "database": "PubMed", "id": "11717445", "url": "https://glygen.org/publication/PubMed/11717445" }, { "database": "PubMed", "id": "16916640", "url": "https://glygen.org/publication/PubMed/16916640" } ] }, { "annotation": "Isoform 7 can enhance NF-kappaB activity but promotes only slight apoptosis.", "evidence": [ { "database": "UniProtKB", "id": "Q92851", "url": "https://www.uniprot.org/uniprot/Q92851#function" }, { "database": "PubMed", "id": "17822854", "url": "https://glygen.org/publication/PubMed/17822854" } ] }, { "annotation": "Isoform C is proteolytically inactive.", "evidence": [ { "database": "UniProtKB", "id": "Q92851", "url": "https://www.uniprot.org/uniprot/Q92851#function" }, { "database": "PubMed", "id": "11717445", "url": "https://glygen.org/publication/PubMed/11717445" } ] }, { "annotation": "Long noncoding RNA PVT1 facilitates high glucose-induced cardiomyocyte death through the miR-23a-3p/CASP10 axis. Erratum:[Cell Biol Int. 2021 Jun;45(6):1349. PMID: 33998141]", "evidence": [ { "database": "RefSeq", "id": "NP_001193453", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193453" }, { "database": "PubMed", "id": "33049089", "url": "https://glygen.org/publication/PubMed/33049089" } ] }, { "annotation": "Relationship Between CASP9 and CASP10 Gene Polymorphisms and Cancer Susceptibility: Evidence from an Updated Meta-analysis. Erratum:[Appl Biochem Biotechnol. 2021 Sep 16;:. PMID: 34529231]", "evidence": [ { "database": "RefSeq", "id": "NP_001193453", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193453" }, { "database": "PubMed", "id": "34463927", "url": "https://glygen.org/publication/PubMed/34463927" } ] }, { "annotation": "This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein cleaves and activates caspases 3 and 7, and the protein itself is processed by caspase 8. Mutations in this gene are associated with type IIA autoimmune lymphoproliferative syndrome, non-Hodgkin lymphoma and gastric cancer. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001193453", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193453" } ] }, { "annotation": "Variants in CASP10, a diagnostic challenge: Single center experience and review of the literature. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001193453", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193453" }, { "database": "PubMed", "id": "34329798", "url": "https://glygen.org/publication/PubMed/34329798" } ] } ], "disease": [ { "disease_id": "DOID:0060060", "recommended_name": { "id": "DOID:0060060", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060060", "name": "non-Hodgkin lymphoma", "description": "A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma." }, "synonyms": [ { "id": "MONDO:0011508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011508", "name": "lymphoma, non-Hodgkin, familial", "description": "" }, { "id": "MONDO:0011508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011508", "name": "lymphoma, follicular, somatic", "description": "" }, { "id": "MONDO:0011508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011508", "name": "lymphoma, non-Hodgkin", "description": "" }, { "id": "MONDO:0011508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011508", "name": "lymphoma, non-Hodgkin, familial", "description": "" }, { "id": "MONDO:0011508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011508", "name": "lymphoma, non-Hodgkin, somatic", "description": "" }, { "id": "MONDO:0011508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011508", "name": "non-Hodgkin lymphoma", "description": "" }, { "id": "MIM:605027", "resource": "MIM", "url": "https://www.omim.org/entry/605027", "name": "Familial non-Hodgkin lymphoma", "description": "Familial non-Hodgkin lymphoma" } ], "evidence": [ { "id": "605027", "database": "MIM", "url": "https://www.omim.org/entry/605027" } ] }, { "disease_id": "DOID:0110115", "recommended_name": { "id": "DOID:0110115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110115", "name": "autoimmune lymphoproliferative syndrome type 2A", "description": "An autoimmune lymphoproliferative syndrome that has_material_basis_in mutation in the CASP10 gene." }, "synonyms": [ { "id": "DOID:0110115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110115", "name": "ALPS2A", "description": "" }, { "id": "DOID:0110115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110115", "name": "autoimmune lymphoproliferative syndrome type IIA", "description": "" }, { "id": "MONDO:0011383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011383", "name": "autoimmune lymphoproliferative syndrome type 2A", "description": "A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma." }, { "id": "MONDO:0011383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011383", "name": "ALPS-CASP10", "description": "" }, { "id": "MONDO:0011383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011383", "name": "ALPS2A", "description": "" }, { "id": "MONDO:0011383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011383", "name": "CASP10 autoimmune lymphoproliferative syndrome", "description": "" }, { "id": "MONDO:0011383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011383", "name": "autoimmune lymphoproliferative syndrome caused by mutation in CASP10", "description": "" }, { "id": "MONDO:0011383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011383", "name": "autoimmune lymphoproliferative syndrome type IIA", "description": "" }, { "id": "MONDO:0011383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011383", "name": "autoimmune lymphoproliferative syndrome, type II", "description": "" }, { "id": "MONDO:0011383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011383", "name": "autoimmune lymphoproliferative syndrome-CASP10 variant", "description": "" }, { "id": "MONDO:0011383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011383", "name": "type 2 ALPS", "description": "" }, { "id": "MONDO:0011383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011383", "name": "type 2 autoimmune lymphoproliferative syndrome", "description": "" }, { "id": "MONDO:0011383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011383", "name": "autoimmune lymphoproliferative syndrome, type 2", "description": "" }, { "id": "MONDO:0011383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011383", "name": "autoimmune lymphoproliferative syndrome, type 2A", "description": "" }, { "id": "MONDO:0011383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011383", "name": "autoimmune lymphoproliferative syndrome, type IIA", "description": "" }, { "id": "MIM:603909", "resource": "MIM", "url": "https://www.omim.org/entry/603909", "name": "Autoimmune lymphoproliferative syndrome 2A", "description": "Autoimmune lymphoproliferative syndrome 2A" } ], "evidence": [ { "id": "603909", "database": "MIM", "url": "https://www.omim.org/entry/603909" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "evidence": [ { "id": "613659", "database": "MIM", "url": "https://www.omim.org/entry/613659" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 401, "end_pos": 401, "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes proteolytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q92851", "url": "https://www.uniprot.org/uniprot/Q92851" }, { "database": "PubMed", "id": "11717445", "url": "https://glygen.org/publication/PubMed/11717445" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "71.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000003400", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000003400" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "68.68", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000003400", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000003400" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "77.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000003400", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000003400" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000003400", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000003400" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "78.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000003400", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000003400" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "89.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000003400", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000003400" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "60.19", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000003400", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000003400" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "69.44", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000003400", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000003400" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "76.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000003400", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000003400" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "57.67", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000003400", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000003400" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "77.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000003400", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000003400" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "73.21", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000003400", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000003400" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "78.84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000003400", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000003400" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": 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"" }, { "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": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q92851" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "Q92851", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q92851" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": 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somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant 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": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92851", "url": "https://www.uniprot.org/uniprot/Q92851" } ], "common_name": "Human" } ], "gene": [ { "name": "CASP10", "url": "https://www.uniprot.org/uniprot/Q92851", "locus": { "chromosome": "2", "start_pos": 201229428, "end_pos": 201182872, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000003400", "url": "https://www.ensembl.org/id/ENSG00000003400" } ] } } ], "crossref": [ { "id": "ENSG00000003400", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000003400", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "3.4.22.63", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=3.4.22.63&UniProtAcc=Q92851", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd00032", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00032", 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"id": "IPR016129", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016129", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR029030", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029030", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR033139", "url": "https://www.ebi.ac.uk/interpro/entry/IPR033139", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035701", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035701", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:843", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:843", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "601762", "url": "http://www.omim.org/entry/601762", "database": "MIM", "categories": [ "Other" ] }, { "id": "603909", "url": "http://www.omim.org/entry/603909", "database": "MIM", "categories": [ "Other" ] }, { "id": "605027", "url": 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"http://pfam.xfam.org/family/PF00656", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01335", "url": "http://pfam.xfam.org/family/PF01335", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q92851", "url": "https://pharos.nih.gov/targets/Q92851", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q92851", "url": "http://purl.obolibrary.org/obo/PR_Q92851", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-6803207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803207", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-75157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75157", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-75158", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75158", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-933543", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-933543", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001193453", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193453", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A8Q3SJ84", "url": "https://www.uniprot.org/uniprot/A0A8Q3SJ84", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SJ84-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3SJ84-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WLN0", "url": "https://www.uniprot.org/uniprot/A0A8Q3WLN0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WLN0-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3WLN0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B4E3T5", "url": "https://www.uniprot.org/uniprot/B4E3T5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B4E3T5-1", "url": "https://www.uniprot.org/uniprot/B4E3T5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q92851", "url": "https://www.uniprot.org/uniprot/Q92851", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q92851-1", "url": "https://www.uniprot.org/uniprot/Q92851-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q92851-2", "url": "https://www.uniprot.org/uniprot/Q92851-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q92851-3", "url": "https://www.uniprot.org/uniprot/Q92851-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q92851-4", "url": "https://www.uniprot.org/uniprot/Q92851-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q92851-5", "url": "https://www.uniprot.org/uniprot/Q92851-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q92851-6", "url": "https://www.uniprot.org/uniprot/Q92851-6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q92851-7", "url": "https://www.uniprot.org/uniprot/Q92851-7", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MKSQGQHWYSSSDKNCKVSFREKLLIIDSNLGVQDVENLKFLCIGLVPNKKLEKSSSASDVFEHLLAEDLLSEEDPFFLAELLYIIRQKKLLQHLNCTKEEVERLLPTRQRVSLFRNLLYELSEGIDSENLKDMIFLLKDSLPKTEMTSLSFLAFLEKQGKIDEDNLTCLEDLCKTVVPKLLRNIEKYKREKAIQIVTPPVDKEAESYQGEEELVSQTDVKTFLEALPQESWQNKHAGSNGNRATNGAPSLVSRGMQGASANTLNSETSTKRAAVYRMNRNHRGLCVIVNNHSFTSLKDRQGTHKDAEILSHVFQWLGFTVHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGRFGAVYSSDEALIPIREIMSHFTALQCPRLAEKPKLFFIQACQGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATVPGYVSFRHVEEGSWYIQSLCNHLKKLVPRMLKFLEKTMEIRGRKRTVWGAKQISATSLPTAISAQTPRPPMRRWSSVS", "length": 521, "header": "sp|Q92851-1|CASPA_HUMAN Isoform 1 of Caspase-10 OS=Homo sapiens OX=9606 GN=CASP10 PE=1 SV=3 CANONICAL=Q92851-1" }, "isoforms": [ { "isoform_ac": "A0A8Q3SJ84-1", "url": "", "sequence": { "sequence": "MKSQGQHWYSSSDKNCKVSFREKLLIIDSNLGVQDVENLKFLCIGLVPNKKLEKSSSASDVFEHLLAEDLLSEEDPFFLAELLYIIRQKKLLQHLNCTKEEVERLLPTRQRVSLFRNLLYELSEGIDSENLKDMIFLLKDSLPKTEMTSLSFLAFLEKQGKIDEDNLTCLEDLCKTVVPKLLRNIEKYKREKAIQIVTPPVDKEAESYQGEEELVSQTDVKTFLEALPVGSVVCWSMLNNRLHPPTSPPCHPKKEKEREAPVCTIYCKWSHHGDCK", "length": 276, "header": "tr|A0A8Q3SJ84-1|A0A8Q3SJ84_HUMAN Computationally mapped isoform of Caspase 10 OS=Homo sapiens OX=9606 GN=CASP10 PE=1 SV=1 CANONICAL=Q92851-1" }, "locus": { "chromosome": "2", "start_pos": 201196092, "end_pos": 201185778, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000471191.2", "url": "https://www.ensembl.org/id/ENST00000471191.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000512475.1", "url": "https://www.ensembl.org/id/ENSP00000512475.1" } ] } }, { "isoform_ac": "A0A8Q3WLN0-1", "url": "", "sequence": { "sequence": "MKSQGQHWYSSSDKNCKVSFREKLLIIDSNLGVQDVENLKFLCIGLVPNKKLEKSSSASDVFEHLLAEDLLSEEDPFFLAELLYIIRQKKLLQHLNCTKEEVERLLPTRQRVSLFRNLLYELSEGIDSENLKDMIFLLKDSLPKTEMTSLSFLAFLEKQGKIDEDNLTCLEDLCKTVVPKLLRNIEKYKREKAIQIVTPPVDKEAESYQGEEELVSQTDVKTFLEALPQESWQNKHAGSNVGC", "length": 243, "header": "tr|A0A8Q3WLN0-1|A0A8Q3WLN0_HUMAN Computationally mapped isoform of Caspase 10 OS=Homo sapiens OX=9606 GN=CASP10 PE=1 SV=1 CANONICAL=Q92851-1" }, "locus": { "chromosome": "2", "start_pos": 201228937, "end_pos": 201185778, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696199.1", "url": "https://www.ensembl.org/id/ENST00000696199.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512481.1", "url": "https://www.ensembl.org/id/ENSP00000512481.1" } ] } }, { "isoform_ac": "B4E3T5-1", "url": "", "sequence": { "sequence": "MKSQGQHWYSSSDKNCKVSFREKLLIIDSNLGVQDVENLKFLCIGLVPNKKLEKSSSASDVFEHLLAEDLLSEEDPFFLAELLYIIRQKKLLQHLNCTKEEVERLLPTRQRVSLFRPP", "length": 118, "header": "tr|B4E3T5-1|B4E3T5_HUMAN Computationally mapped isoform of cDNA FLJ61090, highly similar to Caspase-10 OS=Homo sapiens OX=9606 GN=CASP10 PE=1 SV=1 CANONICAL=Q92851-1" }, "locus": { "chromosome": "2", "start_pos": 201192990, "end_pos": 201185778, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000438843.6", "url": "https://www.ensembl.org/id/ENST00000438843.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000401914.1", "url": "https://www.ensembl.org/id/ENSP00000401914.1" } ] } }, { "isoform_ac": "Q92851-1", "url": "", "sequence": { "sequence": "MKSQGQHWYSSSDKNCKVSFREKLLIIDSNLGVQDVENLKFLCIGLVPNKKLEKSSSASDVFEHLLAEDLLSEEDPFFLAELLYIIRQKKLLQHLNCTKEEVERLLPTRQRVSLFRNLLYELSEGIDSENLKDMIFLLKDSLPKTEMTSLSFLAFLEKQGKIDEDNLTCLEDLCKTVVPKLLRNIEKYKREKAIQIVTPPVDKEAESYQGEEELVSQTDVKTFLEALPQESWQNKHAGSNGNRATNGAPSLVSRGMQGASANTLNSETSTKRAAVYRMNRNHRGLCVIVNNHSFTSLKDRQGTHKDAEILSHVFQWLGFTVHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGRFGAVYSSDEALIPIREIMSHFTALQCPRLAEKPKLFFIQACQGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATVPGYVSFRHVEEGSWYIQSLCNHLKKLVPRMLKFLEKTMEIRGRKRTVWGAKQISATSLPTAISAQTPRPPMRRWSSVS", "length": 521, "header": "sp|Q92851-1|CASPA_HUMAN Isoform 1 of Caspase-10 OS=Homo sapiens OX=9606 GN=CASP10 PE=1 SV=3 CANONICAL=Q92851-1" }, "locus": { "chromosome": "2", "start_pos": 201229080, "end_pos": 201185778, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000272879.9", "url": "https://www.ensembl.org/id/ENST00000272879.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000272879.5", "url": "https://www.ensembl.org/id/ENSP00000272879.5" } ] } }, { "isoform_ac": "Q92851-2", "url": "", "sequence": { "sequence": "MKSQGQHWYSSSDKNCKVSFREKLLIIDSNLGVQDVENLKFLCIGLVPNKKLEKSSSASDVFEHLLAEDLLSEEDPFFLAELLYIIRQKKLLQHLNCTKEEVERLLPTRQRVSLFRNLLYELSEGIDSENLKDMIFLLKDSLPKTEMTSLSFLAFLEKQGKIDEDNLTCLEDLCKTVVPKLLRNIEKYKREKAIQIVTPPVDKEAESYQGEEELVSQTDVKTFLEALPRAAVYRMNRNHRGLCVIVNNHSFTSLKDRQGTHKDAEILSHVFQWLGFTVHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGRFGAVYSSDEALIPIREIMSHFTALQCPRLAEKPKLFFIQACQGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATVPGYVSFRHVEEGSWYIQSLCNHLKKLVPRHEDILSILTAVNDDVSRRVDKQGTKKQMPQPAFTLRKKLVFPVPLDALSL", "length": 479, "header": "sp|Q92851-2|CASPA_HUMAN Isoform 2 of Caspase-10 OS=Homo sapiens OX=9606 GN=CASP10 PE=1 SV=3 CANONICAL=Q92851-1" }, "locus": { "chromosome": "2", "start_pos": 201217738, "end_pos": 201185778, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000346817.10", "url": "https://www.ensembl.org/id/ENST00000346817.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000237865.7", "url": "https://www.ensembl.org/id/ENSP00000237865.7" } ] } }, { "isoform_ac": "Q92851-3", "url": "", "sequence": { "sequence": "MKSQGQHWYSSSDKNCKVSFREKLLIIDSNLGVQDVENLKFLCIGLVPNKKLEKSSSASDVFEHLLAEDLLSEEDPFFLAELLYIIRQKKLLQHLNCTKEEVERLLPTRQRVSLFRNLLYELSEGIDSENLKDMIFLLKDSLPKTEMTSLSFLAFLEKQGKIDEDNLTCLEDLCKTVVPKLLRNIEKYKREKAIQIVTPPVDKEAESYQGEEELVSQTDVKTFLEALPQESWQNKHAGSNEGSCVQDESEPQRPLCHCQQPQLYLPEGQTRNP", "length": 273, "header": "sp|Q92851-3|CASPA_HUMAN Isoform 3 of Caspase-10 OS=Homo sapiens OX=9606 GN=CASP10 PE=1 SV=3 CANONICAL=Q92851-1" }, "locus": { "chromosome": "2", "start_pos": 201208172, "end_pos": 201185778, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000492363.6", "url": "https://www.ensembl.org/id/ENST00000492363.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000512459.1", "url": "https://www.ensembl.org/id/ENSP00000512459.1" } ] } }, { "isoform_ac": "Q92851-4", "url": "", "sequence": { "sequence": "MKSQGQHWYSSSDKNCKVSFREKLLIIDSNLGVQDVENLKFLCIGLVPNKKLEKSSSASDVFEHLLAEDLLSEEDPFFLAELLYIIRQKKLLQHLNCTKEEVERLLPTRQRVSLFRNLLYELSEGIDSENLKDMIFLLKDSLPKTEMTSLSFLAFLEKQGKIDEDNLTCLEDLCKTVVPKLLRNIEKYKREKAIQIVTPPVDKEAESYQGEEELVSQTDVKTFLEALPQESWQNKHAGSNGNRATNGAPSLVSRGMQGASANTLNSETSTKRAAVYRMNRNHRGLCVIVNNHSFTSLKDRQGTHKDAEILSHVFQWLGFTVHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGRFGAVYSSDEALIPIREIMSHFTALQCPRLAEKPKLFFIQACQGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATVPGYVSFRHVEEGSWYIQSLCNHLKKLVPRHEDILSILTAVNDDVSRRVDKQGTKKQMPQPAFTLRKKLVFPVPLDALSL", "length": 522, "header": "sp|Q92851-4|CASPA_HUMAN Isoform 4 of Caspase-10 OS=Homo sapiens OX=9606 GN=CASP10 PE=1 SV=3 CANONICAL=Q92851-1" }, "locus": { "chromosome": "2", "start_pos": 201217738, "end_pos": 201185778, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000286186.11", "url": "https://www.ensembl.org/id/ENST00000286186.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000286186.6", "url": "https://www.ensembl.org/id/ENSP00000286186.6" } ] } }, { "isoform_ac": "Q92851-5", "url": "", "sequence": { "sequence": "MKSQGQHWYSSSDKNCKVSFREKLLIIDSNLGVQDVENLKFLCIGLVPNKKLEKSSSASDVFEHLLAEDLLSEEDPFFLAELLYIIRQKKLLQHLNCTKEEVERLLPTRQRVSLFRNLLYELSEGIDSENLKDMIFLLKDSLPKTEMTSLSFLAFLEKQGKIDEDNLTCLEDLCKTVVPKLLRNIEKYKREKAIQIVTPPVDKEAESYQGEEELVSQTDVKTFLEALPRAAVYRMNRNHRGLCVIVNNHSFTSLKDRQGTHKDAEILSHVFQWLGFTVHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGRFGAVYSSDEALIPIREIMSHFTALQCPRLAEKPKLFFIQACQGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATVPGYVSFRHVEEGSWYIQSLCNHLKKLVPRMLKFLEKTMEIRGRKRTVWGAKQISATSLPTAISAQTPRPPMRRWSSVS", "length": 478, "header": "sp|Q92851-5|CASPA_HUMAN Isoform 5 of Caspase-10 OS=Homo sapiens OX=9606 GN=CASP10 PE=1 SV=3 CANONICAL=Q92851-1" }, "locus": { "chromosome": "2", "start_pos": 201229080, "end_pos": 201185778, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000448480.1", "url": "https://www.ensembl.org/id/ENST00000448480.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000396835.1", "url": "https://www.ensembl.org/id/ENSP00000396835.1" } ] } }, { "isoform_ac": "Q92851-6", "url": "", "sequence": { "sequence": "MKSQGQHWYSSSDKNCKVSFREKLLIIDSNLGVQDVENLKFLCIGLVPNKKLEKSSSASDVFEHLLAEDLLSEEDPFFLAELLYIIRQKKLLQHLNCTKEEVERLLPTRQRVSLFRNLLYELSEGIDSENLKDMIFLLKDSLPKTEMTSLSFLAFLEKQGKIDEDNLTCLEDLCKTVVPKLLRNIEKYKREKAIQIVTPPVDKEAESYQGEEELVSQTDVKTFLEALPQESWQNKHAGSNEILSHVFQWLGFTVHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGRFGAVYSSDEALIPIREIMSHFTALQCPRLAEKPKLFFIQACQGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATVPGYVSFRHVEEGSWYIQSLCNHLKKLVPRHEDILSILTAVNDDVSRRVDKQGTKKQMPQPAFTLRKKLVFPVPLDALSL", "length": 455, "header": "sp|Q92851-6|CASPA_HUMAN Isoform 6 of Caspase-10 OS=Homo sapiens OX=9606 GN=CASP10 PE=1 SV=3 CANONICAL=Q92851-1" }, "locus": { "chromosome": "2", "start_pos": 201217738, "end_pos": 201185778, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000313728.12", "url": "https://www.ensembl.org/id/ENST00000313728.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000314599.7", "url": "https://www.ensembl.org/id/ENSP00000314599.7" } ] } }, { "isoform_ac": "Q92851-7", "url": "", "sequence": { "sequence": "MKSQGQHWYSSSDKNCKVSFREKLLIIDSNLGVQDVENLKFLCIGLVPNKKLEKSSSASDVFEHLLAEDLLSEEDPFFLAELLYIIRQKKLLQHLNCTKEEVERLLPTRQRVSLFRNLLYELSEGIDSENLKDMIFLLKDSLPKTEMTSLSFLAFLEKQGKIDEDNLTCLEDLCKTVVPKLLRNIEKYKREKAIQIVTPPVDKEAESYQGEEELVSQTDVKTFLEALPEGVFVFLNEGDRGNSPDDL", "length": 247, "header": "sp|Q92851-7|CASPA_HUMAN Isoform 7 of Caspase-10 OS=Homo sapiens OX=9606 GN=CASP10 PE=1 SV=3 CANONICAL=Q92851-1" }, "locus": { "chromosome": "2", "start_pos": 201200499, "end_pos": 201185778, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000374650.8", "url": "https://www.ensembl.org/id/ENST00000374650.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000363781.3", "url": "https://www.ensembl.org/id/ENSP00000363781.3" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 216, "end_pos": 216, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q92851", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q92851" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" }, { "database": "phospho.ELM", "id": "Q92851", "url": "http://phospho.elm.eu.org/byAccession/Q92851.html" } ], "site_lbl": "Ser216" } ], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Molecular cloning and characterization of two novel pro-apoptotic isoforms of caspase-10.", "journal": "J. Biol. Chem.", "date": "1999", "authors": "Ng PW, Porter AG, Janicke RU", "evidence": [ { "database": "UniProtKB", "id": "Q92851", "url": "https://www.uniprot.org/uniprot/Q92851" } ], "reference": [ { "type": "PubMed", "id": "10187817", "url": "https://glygen.org/publication/PubMed/10187817" } ] }, { "title": "Role of cytochrome c and dATP/ATP hydrolysis in Apaf-1-mediated caspase-9 activation and apoptosis.", "journal": "The EMBO journal", "date": "1999", "authors": "Hu Y, Benedict MA, Ding L, Nunez G", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803207" } ], "reference": [ { "type": "PubMed", "id": "10393175", "url": "https://glygen.org/publication/PubMed/10393175" } ] }, { "title": "Inherited human caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II.", "journal": "Cell", "date": "1999", "authors": "Wang J, Zheng L, Lobito A, Chan FK, Dale J, Sneller M, Yao X, Puck JM, Straus SE, Lenardo MJ", "evidence": [ { "database": "UniProtKB", "id": "Q92851", "url": "https://www.uniprot.org/uniprot/Q92851" } ], "reference": [ { "type": "PubMed", "id": "10412980", "url": "https://glygen.org/publication/PubMed/10412980" } ] }, { "title": "FADD/MORT1 and caspase-8 are recruited to TRAIL receptors 1 and 2 and are essential for apoptosis mediated by TRAIL receptor 2.", "journal": "Immunity", "date": "2000", "authors": "Sprick MR, Weigand MA, Rieser E, Rauch CT, Juo P, Blenis J, Krammer PH, Walczak H", "evidence": [ { "database": "Reactome", "id": "R-HSA-75158", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75158" } ], "reference": [ { "type": "PubMed", "id": "10894160", "url": "https://glygen.org/publication/PubMed/10894160" } ] }, { "title": "Pidd, a new death-domain-containing protein, is induced by p53 and promotes apoptosis.", "journal": "Nature genetics", "date": "2000", "authors": "Lin Y, Ma W, Benchimol S", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803207" } ], "reference": [ { "type": "PubMed", "id": "10973264", "url": "https://glygen.org/publication/PubMed/10973264" } ] }, { "title": "Activation of the NF-kappaB pathway by caspase 8 and its homologs.", "journal": "Oncogene", "date": "2000", "authors": "Chaudhary PM, Eby MT, Jasmin A, Kumar A, Liu L, Hood L", "evidence": [ { "database": "Reactome", "id": "R-HSA-933543", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-933543" } ], "reference": [ { "type": "PubMed", "id": "11002417", "url": "https://glygen.org/publication/PubMed/11002417" } ] }, { "title": "Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: candidate genes for ALS2.", "journal": "Genomics", "date": "2001", "authors": "Hadano S, Yanagisawa Y, Skaug J, Fichter K, Nasir J, Martindale D, Koop BF, Scherer SW, Nicholson DW, Rouleau GA, Ikeda J, Hayden MR", "evidence": [ { "database": "UniProtKB", "id": "Q92851", "url": "https://www.uniprot.org/uniprot/Q92851" } ], "reference": [ { "type": "PubMed", "id": "11161814", "url": "https://glygen.org/publication/PubMed/11161814" } ] }, { "title": "Direct transcriptional activation of human caspase-1 by tumor suppressor p53.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Gupta S, Radha V, Furukawa Y, Swarup G", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803207" } ], "reference": [ { "type": "PubMed", "id": "11278253", "url": "https://glygen.org/publication/PubMed/11278253" } ] }, { "title": "Identification of Ipaf, a human caspase-1-activating protein related to Apaf-1.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Poyet JL, Srinivasula SM, Tnani M, Razmara M, Fernandes-Alnemri T, Alnemri ES", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803207" } ], "reference": [ { "type": "PubMed", "id": "11390368", "url": "https://glygen.org/publication/PubMed/11390368" } ] }, { "title": "APAF-1 is a transcriptional target of p53 in DNA damage-induced apoptosis.", "journal": "Cancer research", "date": "2001", "authors": "Robles AI, Bemmels NA, Foraker AB, Harris CC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803207" } ], "reference": [ { "type": "PubMed", "id": "11559530", "url": "https://glygen.org/publication/PubMed/11559530" } ] }, { "title": "Caspase-10 is an initiator caspase in death receptor signaling.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2001", "authors": "Wang J, Chun HJ, Wong W, Spencer DM, Lenardo MJ", "evidence": [ { "database": "UniProtKB", "id": "Q92851", "url": "https://www.uniprot.org/uniprot/Q92851" }, { "database": "Reactome", "id": "R-HSA-75157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75157" } ], "reference": [ { "type": "PubMed", "id": "11717445", "url": "https://glygen.org/publication/PubMed/11717445" } ] }, { "title": "Inactivating mutations of the caspase-10 gene in gastric cancer.", "journal": "Oncogene", "date": "2002", "authors": "Park WS, Lee JH, Shin MS, Park JY, Kim HS, Lee JH, Kim YS, Lee SN, Xiao W, Park CH, Lee SH, Yoo NJ, Lee JY", "evidence": [ { "database": "UniProtKB", "id": "Q92851", "url": "https://www.uniprot.org/uniprot/Q92851" } ], "reference": [ { "type": "PubMed", "id": "11973654", "url": "https://glygen.org/publication/PubMed/11973654" } ] }, { "title": "Inactivating mutations of CASP10 gene in non-Hodgkin lymphomas.", "journal": "Blood", "date": "2002", "authors": "Shin MS, Kim HS, Kang CS, Park WS, Kim SY, Lee SN, Lee JH, Park JY, Jang JJ, Kim CW, Kim SH, Lee JY, Yoo NJ, Lee SH", "evidence": [ { "database": "UniProtKB", "id": "Q92851", "url": "https://www.uniprot.org/uniprot/Q92851" } ], "reference": [ { "type": "PubMed", "id": "12010812", "url": "https://glygen.org/publication/PubMed/12010812" } ] }, { "title": "Apoptotic threshold is lowered by p53 transactivation of caspase-6.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "MacLachlan TK, El-Deiry WS", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803207" } ], "reference": [ { "type": "PubMed", "id": "12089322", "url": "https://glygen.org/publication/PubMed/12089322" } ] }, { "title": "Regulation of Fas-associated death domain interactions by the death effector domain identified by a modified reverse two-hybrid screen.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Thomas LR, Stillman DJ, Thorburn A", "evidence": [ { "database": "Reactome", "id": "R-HSA-933543", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-933543" } ], "reference": [ { "type": "PubMed", "id": "12107169", "url": "https://glygen.org/publication/PubMed/12107169" } ] }, { "title": "Caspase-10 is recruited to and activated at the native TRAIL and CD95 death-inducing signalling complexes in a FADD-dependent manner but can not functionally substitute caspase-8.", "journal": "The EMBO journal", "date": "2002", "authors": "Sprick MR, Rieser E, Stahl H, Grosse-Wilde A, Weigand MA, Walczak H", "evidence": [ { "database": "Reactome", "id": "R-HSA-75157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75157" } ], "reference": [ { "type": "PubMed", "id": "12198154", "url": "https://glygen.org/publication/PubMed/12198154" } ] }, { "title": "Caspase-8 and caspase-10 activate NF-kappaB through RIP, NIK and IKKalpha kinases.", "journal": "European journal of immunology", "date": "2003", "authors": "Shikama Y, Yamada M, Miyashita T", "evidence": [ { "database": "Reactome", "id": "R-HSA-933543", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-933543" } ], "reference": [ { "type": "PubMed", "id": "12884866", "url": "https://glygen.org/publication/PubMed/12884866" } ] }, { "title": "Molecular cloning of the interleukin-1 beta converting enzyme.", "journal": "Science (New York, N.Y.)", "date": "1992", "authors": "Cerretti DP, Kozlosky CJ, Mosley B, Nelson N, Van Ness K, Greenstreet TA, March CJ, Kronheim SR, Druck T, Cannizzaro LA, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803207" } ], "reference": [ { "type": "PubMed", "id": "1373520", "url": "https://glygen.org/publication/PubMed/1373520" } ] }, { "title": "Caspase 10 levels are increased following DNA damage in a p53-dependent manner.", "journal": "Cancer biology & therapy", "date": "2003", "authors": "Rikhof B, Corn PG, El-Deiry WS", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803207" } ], "reference": [ { "type": "PubMed", "id": "14688482", "url": "https://glygen.org/publication/PubMed/14688482" } ] }, { "title": "An unappreciated role for RNA surveillance.", "journal": "Genome Biol.", "date": "2004", "authors": "Brenner S.E., Green R.E., Hillman R.T.", "evidence": [ { "database": "UniProtKB", "id": "Q92851", "url": "https://www.uniprot.org/uniprot/Q92851" } ], "reference": [ { "type": "PubMed", "id": "14759258", "url": "https://glygen.org/publication/PubMed/14759258" } ] }, { "title": "Suppression of caspase-8- and -10-associated RING proteins results in sensitization to death ligands and inhibition of tumor cell growth.", "journal": "Proc. Natl. Acad. Sci. 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RJ, LaFace D, Yoo NJ, Mahboubi A, Echeverri F, Martin SJ, Force WR, Lynch DH, Ware CF, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-75157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75157" } ], "reference": [ { "type": "PubMed", "id": "7530336", "url": "https://glygen.org/publication/PubMed/7530336" } ] }, { "title": "A novel protein that interacts with the death domain of Fas/APO1 contains a sequence motif related to the death domain.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Boldin MP, Varfolomeev EE, Pancer Z, Mett IL, Camonis JH, Wallach D", "evidence": [ { "database": "Reactome", "id": "R-HSA-75157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75157" } ], "reference": [ { "type": "PubMed", "id": "7536190", "url": "https://glygen.org/publication/PubMed/7536190" } ] }, { "title": "Induction of apoptosis in fibroblasts by IL-1 beta-converting enzyme, a mammalian homolog of the C. elegans cell death gene ced-3.", "journal": "Cell", "date": "1993", "authors": "Miura M, Zhu H, Rotello R, Hartwieg EA, Yuan J", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803207" } ], "reference": [ { "type": "PubMed", "id": "8242741", "url": "https://glygen.org/publication/PubMed/8242741" } ] }, { "title": "Cytotoxicity-dependent APO-1 (Fas/CD95)-associated proteins form a death-inducing signaling complex (DISC) with the receptor.", "journal": "The EMBO journal", "date": "1995", "authors": "Kischkel FC, Hellbardt S, Behrmann I, Germer M, Pawlita M, Krammer PH, Peter ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-75157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75157" } ], "reference": [ { "type": "PubMed", "id": "8521815", "url": "https://glygen.org/publication/PubMed/8521815" } ] }, { "title": "Involvement of MACH, a novel MORT1/FADD-interacting protease, in Fas/APO-1- and TNF receptor-induced cell death.", "journal": "Cell", "date": "1996", "authors": "Boldin MP, Goncharov TM, Goltsev YV, Wallach D", "evidence": [ { "database": "Reactome", "id": "R-HSA-75157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75157" } ], "reference": [ { "type": "PubMed", "id": "8681376", "url": "https://glygen.org/publication/PubMed/8681376" } ] }, { "title": "In vitro activation of CPP32 and Mch3 by Mch4, a novel human apoptotic cysteine protease containing two FADD-like domains.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1996", "authors": "Fernandes-Alnemri T, Armstrong RC, Krebs J, Srinivasula SM, Wang L, Bullrich F, Fritz LC, Trapani JA, Tomaselli KJ, Litwack G, Alnemri ES", "evidence": [ { "database": "UniProtKB", "id": "Q92851", "url": "https://www.uniprot.org/uniprot/Q92851" } ], "reference": [ { "type": "PubMed", "id": "8755496", "url": "https://glygen.org/publication/PubMed/8755496" } ] }, { "title": "Identification and characterization of a new member of the TNF family that induces apoptosis.", "journal": "Immunity", "date": "1995", "authors": "Wiley SR, Schooley K, Smolak PJ, Din WS, Huang CP, Nicholl JK, Sutherland GR, Smith TD, Rauch C, Smith CA, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-75158", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75158" } ], "reference": [ { "type": "PubMed", "id": "8777713", "url": "https://glygen.org/publication/PubMed/8777713" } ] }, { "title": "Molecular ordering of the Fas-apoptotic pathway: the Fas/APO-1 protease Mch5 is a CrmA-inhibitable protease that activates multiple Ced-3/ICE-like cysteine proteases.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1996", "authors": "Srinivasula SM, Ahmad M, Fernandes-Alnemri T, Litwack G, Alnemri ES", "evidence": [ { "database": "UniProtKB", "id": "Q92851", "url": "https://www.uniprot.org/uniprot/Q92851" } ], "reference": [ { "type": "PubMed", "id": "8962078", "url": "https://glygen.org/publication/PubMed/8962078" } ] }, { "title": "Fas-associated death domain protein interleukin-1beta-converting enzyme 2 (FLICE2), an ICE/Ced-3 homologue, is proximally involved in CD95- and p55-mediated death signaling.", "journal": "J. Biol. Chem.", "date": "1997", "authors": "Dixit V.M., Vincenz C.", "evidence": [ { "database": "UniProtKB", "id": "Q92851", "url": "https://www.uniprot.org/uniprot/Q92851" } ], "reference": [ { "type": "PubMed", "id": "9045686", "url": "https://glygen.org/publication/PubMed/9045686" } ] }, { "title": "The receptor for the cytotoxic ligand TRAIL.", "journal": "Science (New York, N.Y.)", "date": "1997", "authors": "Pan G, O'Rourke K, Chinnaiyan AM, Gentz R, Ebner R, Ni J, Dixit VM", "evidence": [ { "database": "Reactome", "id": "R-HSA-75158", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75158" } ], "reference": [ { "type": "PubMed", "id": "9082980", "url": "https://glygen.org/publication/PubMed/9082980" } ] }, { "title": "TRAIL-R2: a novel apoptosis-mediating receptor for TRAIL.", "journal": "The EMBO journal", "date": "1997", "authors": "Walczak H, Degli-Esposti MA, Johnson RS, Smolak PJ, Waugh JY, Boiani N, Timour MS, Gerhart MJ, Schooley KA, Smith CA, Goodwin RG, Rauch CT", 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"evidence": [ { "database": "UniProtKB", "id": "Q92851", "url": "https://www.uniprot.org/uniprot/Q92851" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q92851", "url": "https://www.uniprot.org/uniprot/Q92851" } ], "pmid": "" }, { "name": "CD95 death-inducing signaling complex", "id": "GO:0031265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031265", "evidence": [ { "database": "UniProtKB", "id": "Q92851", "url": "https://www.uniprot.org/uniprot/Q92851" } ], "pmid": "" }, { "name": "ripoptosome", "id": "GO:0097342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097342", "evidence": [ { "database": "UniProtKB", "id": "Q92851", "url": "https://www.uniprot.org/uniprot/Q92851" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 166, "end_pos": 168, "annotation": "n_glycosylation_sequon" }, { "start_pos": 291, "end_pos": 293, "annotation": "n_glycosylation_sequon" }, { "start_pos": 326, "end_pos": 328, "annotation": "n_glycosylation_sequon" }, { "start_pos": 96, "end_pos": 98, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-HSA-141310", "name": "FASL:FAS Receptor Trimer:FADD complex binds procaspase-10", "equation": "", "summary": "FADD recruits caspase-10 precursor (pro-caspase-10) to FASL:FAS receptor trimer (Wang et al. 2001, Sprick et al. 2002).", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q92851-1" ], "evidence": [ { "id": "R-HSA-141310", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-141310" } ] }, { "id": "R-HSA-141316", "name": "TRAIL:TRAIL-Receptor2 Trimer:FADD complex binds procaspase-10", "equation": "", "summary": "Caspase-10 precursor is recruited to the TRAIL:TRAIL receptor-2:FADD complex (TNFSF10:TNFRSF10B:FADD) as well as TRAIL:TRAIL receptor-1:FADD complex (TNFSF10:TNFRSF10A:FADD) (Sprick et al. 2002) through interaction of death effector domains of caspase-10 and FADD (Wang et al. 2001).", "cellular_location": "plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q92851-1" ], "evidence": [ { "id": "R-HSA-141316", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-141316" } ] }, { "id": "R-HSA-6798139", "name": "TP53 stimulates CASP10 expression", "equation": "", "summary": "Upon binding to p53 response elements at the CASP10 (caspase-10) gene locus, TP53 (p53) stimulates CASP10 expression (Rikhof et al. 2003). CASP10 is involved in apoptosis triggered by death receptor signaling (Wang et al. 2001, Sprick et al. 2002).", "cellular_location": "cytosol, nucleoplasm", "input_participant_list": [ "R-HSA-6798140" ], "output_participant_list": [ "R-HSA-933453" ], "enzyme_list": [ "Q92851-1" ], "evidence": [ { "id": "R-HSA-6798139", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798139" } ] }, { "id": "R-HSA-933523", "name": "Dimerzation of procaspase-8, procaspase-10", "equation": "", "summary": "Procaspase-8/10 undergo dimerization and the subsequent conformational changes at the receptor complex results in the formation of catalytic active caspase dimers.", "cellular_location": "cytosol, mitochondrial outer membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q14790-1", "Q13546-1", "Q92851-1", "Q8IUD6-1", "Q9BYX4-1", "Q14258-1", "O95786-1", "Q9C037-1" ], "evidence": [ { "id": "R-HSA-933523", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-933523" } ] }, { "id": "R-HSA-933526", "name": "Recruitment of caspase-8 and -10 to FADD complex", "equation": "", "summary": "Caspase-8 (CASP8) and caspase-10 (CASP10) are involved in RIG-I/MDA5-dependent antiviral immune responses. Caspase-8/10 activation contributes to NF-kB activation in response to viral dsRNA.
Caspase-8/10 are synthesized as zymogens (procaspases), containing a large N-terminal prodomain with two death effector domains (DED), and a C-terminal catalytic subunit composed of small and a large domain separated by a smaller linker region. FADD plays a crucial role in the recruitment and activation of procaspase-8/10. The two DED domains of procaspase-8/10 interacts with DED domain of FADD.", "cellular_location": "cytosol, mitochondrial outer membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q14790-1", "Q13546-1", "Q92851-1", "Q8IUD6-1", "Q9BYX4-1", "Q14258-1", "O95786-1", "Q9C037-1" ], "evidence": [ { "id": "R-HSA-933526", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-933526" } ] }, { "id": "R-HSA-933532", "name": "Processing of caspases", "equation": "", "summary": "Processing of caspases is required for activation of downstream signaling and dsRNA stimulation inducese the processing of these caspases. The nonapoptotic caspase function of both caspase-8 and -10 does not require the protease activity and the DED-containing prodomains are sufficient for NF-kB activation.", "cellular_location": "cytosol, mitochondrial outer membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q14790-1", "Q13546-1", "Q92851-1", "Q8IUD6-1", "Q9BYX4-1", "Q14258-1", "O95786-1", "Q9C037-1" ], "evidence": [ { "id": "R-HSA-933532", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-933532" } ] }, { "id": "R-HSA-933539", "name": "Recruitment of IKK complex", "equation": "", "summary": "The molecular mechanisms by which caspase-8/10 attribute to NF-kB signaling is unclear. Caspase-8 might act as a scaffolding protein by bringing the IKK-complex in close proximity to its activator TAK1. The prodomain of Caspase-8 could interact with IKK2 in the IKK complex whereas the protease homology domain failed to do so. These results indicate that the interaction of the DEDs-containing prodomain of caspase-8 with the IKKs may be crucial for the NF-kB induction by caspase-8.", "cellular_location": "cytosol, mitochondrial outer membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q14790-1", "O15111-1", "Q13546-1", "Q92851-1", "Q8IUD6-1", "Q9BYX4-1", "O14920-1", "Q14258-1", "O95786-1", "Q9C037-1" ], "evidence": [ { "id": "R-HSA-933539", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-933539" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-6798140", "participant_name": "CASP10 Gene [nucleoplasm]", "crossref": [ { "id": "ENSG00000003400", "database": "ENSEMBL", "url": "" } ] }, { "participant_id": "R-HSA-933453", "participant_name": "CASP10(1-521) [cytosol]", "crossref": [ { "id": "Q92851", "database": "UniProt", "url": "" }, { "id": "NP_001193471.1", "database": "RefSeq", "url": "" }, { "id": "NP_001193453.1", "database": "RefSeq", "url": "" }, { "id": "15399", "database": "Orphanet", "url": "" }, { "id": "Q92851", "database": "PRO", "url": "" }, { "id": "1626", "database": "Guide to Pharmacology - Targets", "url": "" }, { "id": "Q92851", "database": "Pharos - Targets", "url": "" }, { "id": "CASPA_HUMAN", "database": "ZINC - Predictions - Purchasable", "url": "" }, { "id": "Q92851", "database": "ZINC target", "url": "" }, { "id": "NP_116758.1", "database": "RefSeq", "url": "" }, { "id": "NP_116759.2", "database": "RefSeq", "url": "" }, { "id": "ENST00000346817", "database": "Ensembl", "url": "" }, { "id": "ENST00000448480", "database": "Ensembl", "url": "" }, { "id": "ENST00000492363", "database": "Ensembl", "url": "" }, { "id": "ENST00000286186", "database": "Ensembl", "url": "" }, { "id": "ENST00000272879", "database": "Ensembl", "url": "" }, { "id": "ENSG00000003400-CASP10", "database": "HPA", "url": "" }, { "id": "ENSP00000286186", "database": "Ensembl", "url": "" }, { "id": "3.4.22.63", "database": "IntEnz", "url": "" }, { "id": "CASPA_HUMAN", "database": "ZINC - Substances", "url": "" }, { "id": "ENSP00000237865", "database": "Ensembl", "url": "" }, { "id": "ENSP00000512459", "database": "Ensembl", "url": "" }, { "id": "ENSP00000363781", "database": "Ensembl", "url": "" }, { "id": "ENST00000374650", "database": "Ensembl", "url": "" }, { "id": "NP_001221.2", "database": "RefSeq", "url": "" }, { "id": "ENSP00000314599", "database": "Ensembl", "url": "" }, { "id": "ENSP00000396835", "database": "Ensembl", "url": "" }, { "id": "NP_001293012.1", "database": "RefSeq", "url": "" }, { "id": "ENSP00000272879", "database": "Ensembl", "url": "" }, { "id": "ENSG00000003400", "database": "Ensembl", "url": "" }, { "id": "NP_116756.2", "database": "RefSeq", "url": "" }, { "id": "Q92851", "database": "GeneCards", "url": "" }, { "id": "ENSG00000003400", "database": "OpenTargets", "url": "" }, { "id": "ENST00000313728", "database": "Ensembl", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O14920", "gene_name": "IKBKB", "activity": [ { "ec_number": "2.7.11.10", "activity": "ATP + L-seryl-[I-kappa-B protein] = ADP + H(+) + O-phospho-L-seryl-[I-kappa-B protein].", "evidence": [ { "id": "O14920", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14920" } ] }, { "ec_number": "2.7.11.10", "activity": "", "evidence": [ { "id": "O14920", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14920" } ] }, { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "O14920", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14920" } ] } ] }, { "uniprot_ac": "O15111", "gene_name": "CHUK", "activity": [ { "ec_number": "2.7.11.10", "activity": "ATP + L-seryl-[I-kappa-B protein] = ADP + H(+) + O-phospho-L-seryl-[I-kappa-B protein].", "evidence": [ { "id": "O15111", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15111" } ] }, { "ec_number": "2.7.11.10", "activity": "", "evidence": [ { "id": "O15111", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15111" } ] } ] }, { "uniprot_ac": "O95786", "gene_name": "RIGI", "activity": [ { "ec_number": "3.6.4.13", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "O95786", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95786" } ] }, { "ec_number": "3.6.4.13", "activity": "", "evidence": [ { "id": "O95786", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95786" } ] } ] }, { "uniprot_ac": "Q13546", "gene_name": "RIPK1", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q13546", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13546" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "Q13546", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13546" } ] } ] }, { "uniprot_ac": "Q14258", "gene_name": "TRIM25", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q14258", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14258" } ] }, { "ec_number": "6.3.2.n3", "activity": "ATP + [ISG15] + [protein]-lysine = AMP + diphosphate + [protein]-N-ISGyllysine.", "evidence": [ { "id": "Q14258", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14258" } ] }, { "ec_number": "6.3.2.n3", "activity": "", "evidence": [ { "id": "Q14258", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14258" } ] } ] }, { "uniprot_ac": "Q14790", "gene_name": "CASP8", "activity": [ { "ec_number": "3.4.22.61", "activity": "Strict requirement for Asp at position P1 and has a preferred cleavage sequence of (Leu/Asp/Val)-Glu-Thr-Asp-|-(Gly/Ser/Ala).", "evidence": [ { "id": "Q14790", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14790" } ] }, { "ec_number": "3.4.22.61", "activity": "", "evidence": [ { "id": "Q14790", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14790" } ] } ] }, { "uniprot_ac": "Q8IUD6", "gene_name": "RNF135", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q8IUD6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IUD6" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q8IUD6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IUD6" } ] } ] }, { "uniprot_ac": "Q92851", "gene_name": "CASP10", "activity": [ { "ec_number": "3.4.22.63", "activity": "Strict requirement for Asp at position P1 and has a preferred cleavage sequence of Leu-Gln-Thr-Asp-|-Gly.", "evidence": [ { "id": "Q92851", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92851" } ] }, { "ec_number": "3.4.22.63", "activity": "", "evidence": [ { "id": "Q92851", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92851" } ] } ] }, { "uniprot_ac": "Q9BYX4", "gene_name": "IFIH1", "activity": [ { "ec_number": "3.6.4.13", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "Q9BYX4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BYX4" } ] }, { "ec_number": "3.6.4.13", "activity": "", "evidence": [ { "id": "Q9BYX4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BYX4" } ] } ] }, { "uniprot_ac": "Q9C037", "gene_name": "TRIM4", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q9C037", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9C037" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q9C037", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9C037" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 63 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }