{ "uniprot_canonical_ac": "O14672-1", "uniprot_ac": "O14672", "uniprot_id": "ADA10_HUMAN", "mass": { "chemical_mass": 84142.0, "monoisotopic_mass": 84142.0 }, "refseq": { "ac": "NP_001101", "name": "disintegrin and metalloproteinase domain-containing protein 10 isoform 1 preproprotein", "summary": "Members of the ADAM family are cell surface proteins with a unique structure possessing both potential adhesion and protease domains. This gene encodes and ADAM family member that cleaves many proteins including TNF-alpha and E-cadherin. Alternate splicing results in multiple transcript variants encoding different proteins that may undergo similar processing. [provided by RefSeq, Feb 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001101" }, "gene_names": [ { "name": "ADAM10", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14672", "id": "O14672" }, { "name": "AD10; AD18; CD156c; CDw156; HsT18717; kuz; MADM; RAK", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001101", "id": "NP_001101" }, { "name": "ADAM10", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001101", "id": "NP_001101" }, { "name": "KUZ", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14672", "id": "O14672" }, { "name": "MADM", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14672", "id": "O14672" } ], "protein_names": [ { "name": "Disintegrin and metalloproteinase domain-containing protein 10", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14672" }, { "name": "3.4.24.81", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14672" }, { "name": "ADAM 10", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14672" }, { "name": "CDw156", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14672" }, { "name": "Kuzbanian protein homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14672" }, { "name": "Mammalian disintegrin-metalloprotease", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14672" }, { "name": "a disintegrin and metalloprotease domain 10; disintegrin and metalloproteinase domain-containing protein 10; kuzbanian protein homolog; mammalian disintegrin-metalloprotease", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001101", "id": "NP_001101" }, { "name": "disintegrin and metalloproteinase domain-containing protein 10 isoform 1 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001101", "id": "NP_001101" } ], "function": [ { "annotation": "(Microbial infection) Promotes the cytotoxic activity of S.aureus hly by binding to the toxin at zonula adherens and promoting formation of toxin pores.", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672#function" }, { "database": "PubMed", "id": "30463011", "url": "https://glygen.org/publication/PubMed/30463011" }, { "database": "PubMed", "id": "20624979", "url": "https://glygen.org/publication/PubMed/20624979" } ] }, { "annotation": "AMPK boosts ADAM10 shedding activity in human aortic endothelial cells by promoting Rab14-dependent ADAM10 cell surface translocation.", "evidence": [ { "database": "RefSeq", "id": "NP_001101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001101" }, { "database": "PubMed", "id": "37451218", "url": "https://glygen.org/publication/PubMed/37451218" } ] }, { "annotation": "Characterizing the transmembrane domains of ADAM10 and BACE1 and the impact of membrane composition.", "evidence": [ { "database": "RefSeq", "id": "NP_001101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001101" }, { "database": "PubMed", "id": "37658602", "url": "https://glygen.org/publication/PubMed/37658602" } ] }, { "annotation": "Members of the ADAM family are cell surface proteins with a unique structure possessing both potential adhesion and protease domains. This gene encodes and ADAM family member that cleaves many proteins including TNF-alpha and E-cadherin. Alternate splicing results in multiple transcript variants encoding different proteins that may undergo similar processing. [provided by RefSeq, Feb 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001101" } ] }, { "annotation": "Proteolytic cleavage of amyloid precursor protein by ADAM10 promotes proliferation and migration via activating MAPKs pathway in tongue squamous cell carcinoma in vitro. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001101" }, { "database": "PubMed", "id": "38158671", "url": "https://glygen.org/publication/PubMed/38158671" } ] }, { "annotation": "Structural basis for membrane-proximal proteolysis of substrates by ADAM10.", "evidence": [ { "database": "RefSeq", "id": "NP_001101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001101" }, { "database": "PubMed", "id": "37516108", "url": "https://glygen.org/publication/PubMed/37516108" } ] }, { "annotation": "The 5'-UTR of ADAM10 may have an important role for post-transcriptional regulation of ADAM10 expression and consequently Abeta production.", "evidence": [ { "database": "RefSeq", "id": "NP_001101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001101" }, { "database": "PubMed", "id": "20348102", "url": "https://glygen.org/publication/PubMed/20348102" } ] }, { "annotation": "Tissue inhibitors of metalloproteinases (TIMPs) modulate platelet ADAM10 activity.", "evidence": [ { "database": "RefSeq", "id": "NP_001101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001101" }, { "database": "PubMed", "id": "38031964", "url": "https://glygen.org/publication/PubMed/38031964" } ] }, { "annotation": "Transmembrane metalloprotease which mediates the ectodomain shedding of a myriad of transmembrane proteins, including adhesion proteins, growth factor precursors and cytokines being essential for development and tissue homeostasis (PubMed:11786905, PubMed:12475894, PubMed:20592283, PubMed:24990881, PubMed:26686862, PubMed:28600292, PubMed:31792032). Associates with six members of the tetraspanin superfamily TspanC8 which regulate its exit from the endoplasmic reticulum and its substrate selectivity (PubMed:26686862, PubMed:31792032, PubMed:28600292, PubMed:34739841, PubMed:37516108). Cleaves the membrane-bound precursor of TNF-alpha at '76-Ala-|-Val-77' to its mature soluble form. Responsible for the proteolytical release of soluble JAM3 from endothelial cells surface (PubMed:20592283). Responsible for the proteolytic release of several other cell-surface proteins, including heparin-binding epidermal growth-like factor, ephrin-A2, CD44, CDH2 and for constitutive and regulated alpha-secretase cleavage of amyloid precursor protein (APP) (PubMed:26686862, PubMed:11786905, PubMed:29224781, PubMed:34739841). Contributes to the normal cleavage of the cellular prion protein (PubMed:11477090). Involved in the cleavage of the adhesion molecule L1 at the cell surface and in released membrane vesicles, suggesting a vesicle-based protease activity (PubMed:12475894). Controls also the proteolytic processing of Notch and mediates lateral inhibition during neurogenesis (By similarity). Responsible for the FasL ectodomain shedding and for the generation of the remnant ADAM10-processed FasL (FasL APL) transmembrane form (PubMed:17557115). Also cleaves the ectodomain of the integral membrane proteins CORIN and ITM2B (PubMed:19114711, PubMed:21288900). Mediates the proteolytic cleavage of LAG3, leading to release the secreted form of LAG3 (By similarity). Mediates the proteolytic cleavage of IL6R and IL11RA, leading to the release of secreted forms of IL6R and IL11RA (PubMed:26876177). Enhances the cleavage of CHL1 by BACE1 (By similarity). Cleaves NRCAM (By similarity). Cleaves TREM2, resulting in shedding of the TREM2 ectodomain (PubMed:24990881). Involved in the development and maturation of glomerular and coronary vasculature (By similarity). During development of the cochlear organ of Corti, promotes pillar cell separation by forming a ternary complex with CADH1 and EPHA4 and cleaving CADH1 at adherens junctions (By similarity). May regulate the EFNA5-EPHA3 signaling (PubMed:16239146). Regulates leukocyte transmigration as a sheddase for the adherens junction protein VE-cadherin/CDH5 in endothelial cells (PubMed:28600292).", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672#function" }, { "database": "PubMed", "id": "17557115", "url": "https://glygen.org/publication/PubMed/17557115" }, { "database": "PubMed", "id": "11786905", "url": "https://glygen.org/publication/PubMed/11786905" }, { "database": "PubMed", "id": "26686862", "url": "https://glygen.org/publication/PubMed/26686862" }, { "database": "PubMed", "id": "16239146", "url": "https://glygen.org/publication/PubMed/16239146" }, { "database": "UniProtKB", "id": "O35598", "url": "https://www.uniprot.org/uniprot/O35598#function" }, { "database": "PubMed", "id": "20592283", "url": "https://glygen.org/publication/PubMed/20592283" }, { "database": "PubMed", "id": "12475894", "url": "https://glygen.org/publication/PubMed/12475894" }, { "database": "PubMed", "id": "29224781", "url": "https://glygen.org/publication/PubMed/29224781" }, { "database": "PubMed", "id": "11477090", "url": "https://glygen.org/publication/PubMed/11477090" }, { "database": "PubMed", "id": "24990881", "url": "https://glygen.org/publication/PubMed/24990881" }, { "database": "PubMed", "id": "19114711", "url": "https://glygen.org/publication/PubMed/19114711" }, { "database": "PubMed", "id": "21288900", "url": "https://glygen.org/publication/PubMed/21288900" }, { "database": "PubMed", "id": "26876177", "url": "https://glygen.org/publication/PubMed/26876177" }, { "database": "PubMed", "id": "34739841", "url": "https://glygen.org/publication/PubMed/34739841" }, { "database": "PubMed", "id": "28600292", "url": "https://glygen.org/publication/PubMed/28600292" }, { "database": "PubMed", "id": "31792032", "url": "https://glygen.org/publication/PubMed/31792032" }, { "database": "PubMed", "id": "37516108", "url": "https://glygen.org/publication/PubMed/37516108" } ] } ], "disease": [ { "disease_id": "DOID:0060258", "recommended_name": { "id": "DOID:0060258", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060258", "name": "reticulate acropigmentation of Kitamura", "description": "A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present." }, "synonyms": [ { "id": "DOID:0060258", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060258", "name": "RAPK", "description": "" }, { "id": "MONDO:0014234", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014234", "name": "reticulate acropigmentation of Kitamura", "description": "A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present." }, { "id": "MONDO:0014234", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014234", "name": "RAPK", "description": "" }, { "id": "MONDO:0014234", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014234", "name": "reticulate acropigmentation of Kitamura", "description": "" }, { "id": "MONDO:0014234", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014234", "name": "Kitamura reticulate acropigmentation", "description": "" }, { "id": "MONDO:0014234", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014234", "name": "RAK", "description": "" }, { "id": "MONDO:0014234", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014234", "name": "acropigmentatio reticularis", "description": "" }, { "id": "MONDO:0014234", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014234", "name": "reticulate pigmentation of Kitamura", "description": "" }, { "id": "MIM:615537", "resource": "MIM", "url": "https://www.omim.org/entry/615537", "name": "Reticulate acropigmentation of Kitamura", "description": "Reticulate acropigmentation of Kitamura" } ], "evidence": [ { "id": "615537", "database": "MIM", "url": "https://www.omim.org/entry/615537" } ] }, { "disease_id": "DOID:0110050", "recommended_name": { "id": "DOID:0110050", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110050", "name": "Alzheimer's disease 18", "description": "An Alzheimer's disease that has_material_basis_in a mutation in the ADAM10 gene on chromosome 15q21." }, "synonyms": [ { "id": "DOID:0110050", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110050", "name": "AD18", "description": "" }, { "id": "DOID:0110050", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110050", "name": "Alzheimer disease 18", "description": "" }, { "id": "DOID:0110050", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110050", "name": "Alzheimer's disease 18, late onset", "description": "" }, { "id": "MONDO:0014265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014265", "name": "Alzheimer disease 18", "description": "Any Alzheimer disease in which the cause of the disease is a mutation in the ADAM10 gene." }, { "id": "MONDO:0014265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014265", "name": "AD18", "description": "" }, { "id": "MONDO:0014265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014265", "name": "ADAM10 Alzheimer disease", "description": "" }, { "id": "MONDO:0014265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014265", "name": "Alzheimer disease 18", "description": "" }, { "id": "MONDO:0014265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014265", "name": "Alzheimer disease caused by mutation in ADAM10", "description": "" }, { "id": "MONDO:0014265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014265", "name": "Alzheimer disease type 18", "description": "" }, { "id": "MONDO:0014265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014265", "name": "Alzheimer's disease 18", "description": "" }, { "id": "MONDO:0014265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014265", "name": "Alzheimer's disease type 18", "description": "" }, { "id": "MONDO:0014265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014265", "name": "Alzheimer disease 18, late-onset", "description": "" }, { "id": "MONDO:0014265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014265", "name": "Alzheimer disease 18, susceptibility to", "description": "" }, { "id": "MIM:615590", "resource": "MIM", "url": "https://www.omim.org/entry/615590", "name": "Alzheimer disease 18", "description": "Alzheimer disease 18" } ], "evidence": [ { "id": "615590", "database": "MIM", "url": "https://www.omim.org/entry/615590" } ] } ], "snv": [ { "evidence": [ { "id": "rs1365868158", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1365868158" }, { "id": "rs1365868158", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1365868158" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 269, "end_pos": 269, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIS->NIG); o-glyco-site-loss (S->G).", "chr_id": "15", "chr_pos": "58643909", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S269", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778952812", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778952812" }, { "id": "rs778952812", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778952812" }, { "id": "rs778952812", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778952812" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 130, "end_pos": 130, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "15", "chr_pos": "58679219", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T130", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O14672", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14672" }, { "id": "rs371036827", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371036827" }, { "id": "rs371036827", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371036827" }, { "id": "rs371036827", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371036827#frequency_tab" }, { "id": "rs371036827", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371036827" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 175, "end_pos": 175, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DHS->NHS).", "chr_id": "15", "chr_pos": "58665159", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D175", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs562847230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562847230" }, { "id": "rs562847230", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs562847230" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 194, "end_pos": 194, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "15", 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"https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", 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"BioXpress", "id": "O14672", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14672" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": 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"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", 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O14672", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14672" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O14672", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14672" } ], "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": [ { "database": "BioXpress", "id": "O14672", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14672" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd04270", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd04270", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL5028", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL5028", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "ADAM10", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM10", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "102", "url": "https://www.ncbi.nlm.nih.gov/gene/102", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "1178", "url": "https://glyconnect.expasy.org/browser/proteins/1178", "database": "GlyConnect", "categories": [ "Glycoproteomics", "Glycan" ] }, { "id": "188", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=188", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O14672", "url": 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"https://omabrowser.org/oma/group/CNRRTQV/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5395001at2759", "url": "http://www.orthodb.org/?query=5395001at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR45702", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45702", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45702:SF4", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45702:SF4", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "6BDZ", "url": "https://www.rcsb.org/structure/6BDZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6BE6", "url": "https://www.rcsb.org/structure/6BE6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8ESV", "url": "https://www.rcsb.org/structure/8ESV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00200", "url": "http://pfam.xfam.org/family/PF00200", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01562", "url": "http://pfam.xfam.org/family/PF01562", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13574", "url": "http://pfam.xfam.org/family/PF13574", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF21299", "url": "http://pfam.xfam.org/family/PF21299", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O14672", "url": "https://pharos.nih.gov/targets/O14672", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000050703", "url": "https://proconsortium.org/app/entry/PR:000050703", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_O14672", "url": "http://purl.obolibrary.org/obo/PR_O14672", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-1474228", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-177929", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-177929", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2644606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2644606", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2660826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2660826", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2691232", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2691232", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2894862", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2894862", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2979096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2979096", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-3928665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3928665", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8957275", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8957275", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9013507", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013507", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9013700", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013700", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001101", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O14672", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "A0A087WYG1", "url": "https://www.uniprot.org/uniprot/A0A087WYG1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WYG1-1", "url": "https://www.uniprot.org/uniprot/A0A087WYG1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B5MC71", "url": "https://www.uniprot.org/uniprot/B5MC71", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B5MC71-1", "url": "https://www.uniprot.org/uniprot/B5MC71-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J9B4", "url": "https://www.uniprot.org/uniprot/C9J9B4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J9B4-1", "url": "https://www.uniprot.org/uniprot/C9J9B4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YK32", "url": "https://www.uniprot.org/uniprot/H0YK32", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YK32-1", "url": "https://www.uniprot.org/uniprot/H0YK32-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YK87", "url": "https://www.uniprot.org/uniprot/H0YK87", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YK87-1", "url": "https://www.uniprot.org/uniprot/H0YK87-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YNC5", "url": "https://www.uniprot.org/uniprot/H0YNC5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YNC5-1", "url": "https://www.uniprot.org/uniprot/H0YNC5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BS53", "url": "https://www.uniprot.org/uniprot/H3BS53", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BS53-1", "url": "https://www.uniprot.org/uniprot/H3BS53-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14672-1", "url": "https://www.uniprot.org/uniprot/O14672-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14672-2", "url": "https://www.uniprot.org/uniprot/O14672-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MVLLRVLILLLSWAAGMGGQYGNPLNKYIRHYEGLSYNVDSLHQKHQRAKRAVSHEDQFLRLDFHAHGRHFNLRMKRDTSLFSDEFKVETSNKVLDYDTSHIYTGHIYGEEGSFSHGSVIDGRFEGFIQTRGGTFYVEPAERYIKDRTLPFHSVIYHEDDINYPHKYGPQGGCADHSVFERMRKYQMTGVEEVTQIPQEEHAANGPELLRKKRTTSAEKNTCQLYIQTDHLFFKYYGTREAVIAQISSHVKAIDTIYQTTDFSGIRNISFMVKRIRINTTADEKDPTNPFRFPNIGVEKFLELNSEQNHDDYCLAYVFTDRDFDDGVLGLAWVGAPSGSSGGICEKSKLYSDGKKKSLNTGIITVQNYGSHVPPKVSHITFAHEVGHNFGSPHDSGTECTPGESKNLGQKENGNYIMYARATSGDKLNNNKFSLCSIRNISQVLEKKRNNCFVESGQPICGNGMVEQGEECDCGYSDQCKDECCFDANQPEGRKCKLKPGKQCSPSQGPCCTAQCAFKSKSEKCRDDSDCAREGICNGFTALCPASDPKPNFTDCNRHTQVCINGQCAGSICEKYGLEECTCASSDGKDDKELCHVCCMKKMDPSTCASTGSVQWSRHFSGRTITLQPGSPCNDFRGYCDVFMRCRLVDADGPLARLKKAIFSPELYENIAEWIVAHWWAVLLMGIALIMLMAGFIKICSVHTPSSNPKLPPPKPLPGTLKRRRPPQPIQQPQRQRPRESYQMGHMRR", "length": 748, "header": "sp|O14672-1|ADA10_HUMAN Isoform 1 of Disintegrin and metalloproteinase domain-containing protein 10 OS=Homo sapiens OX=9606 GN=ADAM10 PE=1 SV=1 CANONICAL=O14672-1" }, "isoforms": [ { "isoform_ac": "A0A087WYG1-1", "url": "", "sequence": { "sequence": "MVLLRVLILLLSWAAGMGAPARWRIPKSSPPPRPAAQTRGKLCCLQLGSCIVLYPARRS", "length": 59, "header": "tr|A0A087WYG1-1|A0A087WYG1_HUMAN Computationally mapped isoform of ADAM metallopeptidase domain 10 OS=Homo sapiens OX=9606 GN=ADAM10 PE=4 SV=1 CANONICAL=O14672-1" }, "locus": { "chromosome": "15", "start_pos": 58749534, "end_pos": 58748915, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000461408.2", "url": "https://www.ensembl.org/id/ENST00000461408.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000481779.1", "url": "https://www.ensembl.org/id/ENSP00000481779.1" } ] } }, { "isoform_ac": "B5MC71-1", "url": "", "sequence": { "sequence": "MVLLRVLILLLSWAAGMGDRDFDDGVLGLAWVGAPSGSSGGICEKSKLYSDVPTMGKLHSKEKPIKSSSPN", "length": 71, "header": "tr|B5MC71-1|B5MC71_HUMAN Computationally mapped isoform of ADAM metallopeptidase domain 10 OS=Homo sapiens OX=9606 GN=ADAM10 PE=1 SV=1 CANONICAL=O14672-1" }, "locus": { "chromosome": "15", "start_pos": 58749534, "end_pos": 58597460, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000402627.5", "url": "https://www.ensembl.org/id/ENST00000402627.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000386056.1", "url": "https://www.ensembl.org/id/ENSP00000386056.1" } ] } }, { "isoform_ac": "C9J9B4-1", "url": "", "sequence": { "sequence": "MVLLRVLILLLSWAAGMGGQYGNPLNKYIRHYEGLSYNVDSLHQKHQRAKRAVSHEDQFLRLDFHAHGRHFNLRMKRDTSLFSDEFKVETSNKVLDYDTSHIYTGHIYDYPHKYGPQGGCADHSV", "length": 125, "header": "tr|C9J9B4-1|C9J9B4_HUMAN Computationally mapped isoform of ADAM metallopeptidase domain 10 OS=Homo sapiens OX=9606 GN=ADAM10 PE=1 SV=1 CANONICAL=O14672-1" }, "locus": { "chromosome": "15", "start_pos": 58749534, "end_pos": 58665148, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000439637.5", "url": "https://www.ensembl.org/id/ENST00000439637.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000391930.1", "url": "https://www.ensembl.org/id/ENSP00000391930.1" } ] } }, { "isoform_ac": "H0YK32-1", "url": "", "sequence": { "sequence": "MVLLRVLILLLSWAAGMGVPTMGKLHSKEKPIKSSSPN", "length": 38, "header": "tr|H0YK32-1|H0YK32_HUMAN Computationally mapped isoform of ADAM metallopeptidase domain 10 OS=Homo sapiens OX=9606 GN=ADAM10 PE=4 SV=1 CANONICAL=O14672-1" }, "locus": { "chromosome": "15", "start_pos": 58749534, "end_pos": 58597460, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000561288.1", "url": "https://www.ensembl.org/id/ENST00000561288.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000452639.1", "url": "https://www.ensembl.org/id/ENSP00000452639.1" } ] } }, { "isoform_ac": "H0YK87-1", "url": "", "sequence": { "sequence": "MVLLRVLILLLSWAAGMGGQYGNPLNKYIRHYEGLSYNVDSLHQKHQRAKRAVSHEDQFLRLDFHAHGRDGVLPCCPGWSQTPGLKRSTCLSLPQCWDYRCEPSPMISVFDYPHK", "length": 115, "header": "tr|H0YK87-1|ADA10_HUMAN Computationally mapped isoform of Disintegrin and metalloproteinase domain-containing protein 10 OS=Homo sapiens OX=9606 GN=ADAM10 PE=1 SV=1 CANONICAL=O14672-1" }, "locus": { "chromosome": "15", "start_pos": 58749534, "end_pos": 58665184, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000558004.1", "url": "https://www.ensembl.org/id/ENST00000558004.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000452704.1", "url": "https://www.ensembl.org/id/ENSP00000452704.1" } ] } }, { "isoform_ac": "H0YNC5-1", "url": "", "sequence": { "sequence": "MVLLRVLILLLSWAAGMGDRDFDDGVLGLAWVGAPSGSSGGICEKSKLYSDGKKKSLNTGIITVQNYGSHVPPKVSHITFAHEVGHNFGSPHDSGTECTPGESKNLGQKENGNYIMYARATSGDKLNNNKFSLCSIRNISQVLEKKRN", "length": 148, "header": "tr|H0YNC5-1|H0YNC5_HUMAN Computationally mapped isoform of ADAM metallopeptidase domain 10 OS=Homo sapiens OX=9606 GN=ADAM10 PE=1 SV=1 CANONICAL=O14672-1" }, "locus": { "chromosome": "15", "start_pos": 58749534, "end_pos": 58627713, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000559053.1", "url": "https://www.ensembl.org/id/ENST00000559053.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000453952.1", "url": "https://www.ensembl.org/id/ENSP00000453952.1" } ] } }, { "isoform_ac": "H3BS53-1", "url": "", "sequence": { "sequence": "XEEGSFSHGSVIDGRFEGFIQTRGGTFYVEPAERYIKDRTLPFHSVIYHEDDISEGLN", "length": 58, "header": "tr|H3BS53-1|ADA10_HUMAN Computationally mapped isoform of Disintegrin and metalloproteinase domain-containing protein 10 OS=Homo sapiens OX=9606 GN=ADAM10 PE=1 SV=2 CANONICAL=O14672-1" }, "locus": { "chromosome": "15", "start_pos": 58679282, "end_pos": 58676279, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000396136.6", "url": "https://www.ensembl.org/id/ENST00000396136.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000456542.2", "url": "https://www.ensembl.org/id/ENSP00000456542.2" } ] } }, { "isoform_ac": "O14672-1", "url": "", "sequence": { "sequence": "MVLLRVLILLLSWAAGMGGQYGNPLNKYIRHYEGLSYNVDSLHQKHQRAKRAVSHEDQFLRLDFHAHGRHFNLRMKRDTSLFSDEFKVETSNKVLDYDTSHIYTGHIYGEEGSFSHGSVIDGRFEGFIQTRGGTFYVEPAERYIKDRTLPFHSVIYHEDDINYPHKYGPQGGCADHSVFERMRKYQMTGVEEVTQIPQEEHAANGPELLRKKRTTSAEKNTCQLYIQTDHLFFKYYGTREAVIAQISSHVKAIDTIYQTTDFSGIRNISFMVKRIRINTTADEKDPTNPFRFPNIGVEKFLELNSEQNHDDYCLAYVFTDRDFDDGVLGLAWVGAPSGSSGGICEKSKLYSDGKKKSLNTGIITVQNYGSHVPPKVSHITFAHEVGHNFGSPHDSGTECTPGESKNLGQKENGNYIMYARATSGDKLNNNKFSLCSIRNISQVLEKKRNNCFVESGQPICGNGMVEQGEECDCGYSDQCKDECCFDANQPEGRKCKLKPGKQCSPSQGPCCTAQCAFKSKSEKCRDDSDCAREGICNGFTALCPASDPKPNFTDCNRHTQVCINGQCAGSICEKYGLEECTCASSDGKDDKELCHVCCMKKMDPSTCASTGSVQWSRHFSGRTITLQPGSPCNDFRGYCDVFMRCRLVDADGPLARLKKAIFSPELYENIAEWIVAHWWAVLLMGIALIMLMAGFIKICSVHTPSSNPKLPPPKPLPGTLKRRRPPQPIQQPQRQRPRESYQMGHMRR", "length": 748, "header": "sp|O14672-1|ADA10_HUMAN Isoform 1 of Disintegrin and metalloproteinase domain-containing protein 10 OS=Homo sapiens OX=9606 GN=ADAM10 PE=1 SV=1 CANONICAL=O14672-1" }, "locus": { "chromosome": "15", "start_pos": 58749534, "end_pos": 58597550, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000260408.8", "url": "https://www.ensembl.org/id/ENST00000260408.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000260408.3", "url": "https://www.ensembl.org/id/ENSP00000260408.3" } ] } }, { "isoform_ac": "O14672-2", "url": "", "sequence": { "sequence": "MVLLRVLILLLSWAAGMGDRDFDDGVLGLAWVGAPSGSSGGICEKSKLYSDGKKKSLNTGIITVQNYGSHVPPKVSHITFAHEVGHNFGSPHDSGTECTPGESKNLGQKENGNYIMYARATSGDKLNNNKFSLCSIRNISQVLEKKRNNCFVESGQPICGNGMVEQGEECDCGYSDQCKDECCFDANQPEGRKCKLKPGKQCSPSQGPCCTAQCAFKSKSEKCRDDSDCAREGICNGFTALCPASDPKPNFTDCNRHTQVCINGQCAGSICEKYGLEECTCASSDGKDDKELCHVCCMKKMDPSTCASTGSVQWSRHFSGRTITLQPGSPCNDFRGYCDVFMRCRLVDADGPLARLKKAIFSPELYENIAEWIVAHWWAVLLMGIALIMLMAGFIKICSVHTPSSNPKLPPPKPLPGTLKRRRPPQPIQQPQRQRPRESYQMGHMRR", "length": 447, "header": "sp|O14672-2|ADA10_HUMAN Isoform 2 of Disintegrin and metalloproteinase domain-containing protein 10 OS=Homo sapiens OX=9606 GN=ADAM10 PE=1 SV=1 CANONICAL=O14672-1" 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], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "specific granule membrane", "id": "GO:0035579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035579", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "tertiary granule membrane", "id": "GO:0070821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070821", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "perinuclear endoplasmic reticulum", "id": "GO:0097038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097038", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "tetraspanin-enriched microdomain", "id": "GO:0097197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097197", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "clathrin-coated vesicle", "id": "GO:0030136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030136", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "synaptic membrane", "id": "GO:0097060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097060", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "pore complex", "id": "GO:0046930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046930", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 12, "go_terms": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "endopeptidase activity", "id": "GO:0004175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004175", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "metallopeptidase activity", "id": "GO:0008237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008237", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "SH3 domain binding", "id": "GO:0017124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017124", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "metallodipeptidase activity", "id": "GO:0070573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070573", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "metalloendopeptidase activity involved in amyloid precursor protein catabolic process", "id": "GO:1902945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902945", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 30, "go_terms": [ { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "membrane protein ectodomain proteolysis", "id": "GO:0006509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006509", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "negative regulation of cell adhesion", "id": "GO:0007162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007162", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "positive regulation of T cell chemotaxis", "id": "GO:0010820", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010820", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "extracellular matrix disassembly", "id": "GO:0022617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022617", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "response to tumor necrosis factor", "id": "GO:0034612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034612", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "monocyte activation", "id": "GO:0042117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042117", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "constitutive protein ectodomain proteolysis", "id": "GO:0051089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051089", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "amyloid precursor protein catabolic process", "id": "GO:0042987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042987", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "adherens junction organization", "id": "GO:0034332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034332", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "pore complex assembly", "id": "GO:0046931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046931", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "toxin transport", "id": "GO:1901998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901998", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "regulation of neurotransmitter receptor localization to postsynaptic specialization membrane", "id": "GO:0098696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098696", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "cochlea development", "id": "GO:0090102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090102", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "regulation of Notch signaling pathway", "id": "GO:0008593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008593", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "postsynapse organization", "id": "GO:0099173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099173", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "regulation of vasculature development", "id": "GO:1901342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901342", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "regulation of postsynapse organization", "id": "GO:0099175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099175", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "epidermal growth factor receptor ligand maturation", "id": "GO:0038004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038004", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "protein catabolic process at postsynapse", "id": "GO:0140249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140249", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "O14672", "url": "https://www.uniprot.org/uniprot/O14672" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "disintegrin and metalloproteinase domain-containing protein 10 O-glycosylated 1 (human)", "definition": "A disintegrin and metalloproteinase domain-containing protein 10 (human) that has been O-glycosylated at the residue equivalent to Thr-194 of the amino acid sequence represented by UniProtKB:O14672-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O14672-1, Thr-194, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050703", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050703" } ] } ], "site_annotation": [ { "start_pos": 267, "end_pos": 269, "annotation": "n_glycosylation_sequon" }, { "start_pos": 278, "end_pos": 280, "annotation": "n_glycosylation_sequon" }, { "start_pos": 439, "end_pos": 441, "annotation": "n_glycosylation_sequon" }, { "start_pos": 551, "end_pos": 553, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-HSA-157629", "name": "NOTCH2-ligand complex is cleaved to produce NEXT2", "equation": "", "summary": "Ligand binding induces a conformational change in NOTCH2, through mechanical pulling of NOTCH triggered by endocytosis of the receptor-attached ligand (Meloty-Kapella et al. 2012). This conformational change exposes the S2 site in the extracellular region of NOTCH2 and results in cleavage of NOTCH2 by ADAM10 metalloprotease (Gibb et al. 2010, Groot et al. 2014), generating the membrane-anchored NOTCH2 fragment NEXT2 (Shimizu et al. 2000). The extracellular NOTCH2 portion remains attached to the ligand presented on the plasma membrane of a neighboring cell.", "cellular_location": "plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O14672-1" ], "evidence": [ { "id": "R-HSA-157629", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-157629" } ] }, { "id": "R-HSA-157632", "name": "Complex of NOTCH1 with its ligand is cleaved to produce NEXT1", "equation": "", "summary": "Ligand binding induces a conformational change in NOTCH1, probably through mechanical stretching of NOTCH1 triggered by endocytosis of the ligand attached to the receptor. This conformational change exposes the S2 site in the extracellular region of NOTCH1 and results in cleavage of NOTCH1 by ADAM10 metalloprotease, the mammalian homolog of Kuzbanian (Pan and Rubin, 1997), generating the membrane-anchored NOTCH1 fragment NEXT1.This model is supported by the crystal structure of human NOTCH2 negative regulatory region, showing that NOTCH adopts an autoinhibited conformation where extensive interdomain interactions within the negative regulatory region bury S2. A substantial conformational movement, triggered by ligand binding in trans, is needed to expose S2 (Gordon et al. 2007). After S2 cleavage, the extracellular NOTCH1 portion remains attached to the ligand presented on the plasma membrane of a neighboring cell. ADAM17 is able to perform cleavage at the S2 site in vitro (Brou et al. 2000), but ADAM10 was shown to be necessary in studies done on mouse cell lines deficient in different ADAM enzymes (van Tetering et al. 2009). Adam10 knockout mice die at embryonic day 9.5 with multiple defects in the developing central nervous system, somites and cardiovascular system and exhibit decreased expression of the Notch target Hes5 in the neural tube (Hartmann et al. 2002).", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O14672-1", "P78536-1" ], "evidence": [ { "id": "R-HSA-157632", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-157632" } ] }, { "id": "R-HSA-177946", "name": "Pro-EGF is cleaved to form mature EGF", "equation": "", "summary": "Ligands of the epidermal growth factor receptor (EGFR) are shed from the plasma membrane by metalloproteases. Identification of the sheddases for EGFR ligands using mouse embryonic cells lacking candidate sheddases (a disintegrin and metalloprotease; ADAM) has revealed that ADAM10, -12 and -17 are the sheddases of the EGFR ligands in response to various shedding stimulants such as GPCR agonists, growth factors, cytokines, osmotic stress, wounding and phorbol ester. Among the EGFR ligands, heparin-binding EGF-like growth factor (HB-EGF), EGF and TGF-alpha are the best characterized.", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [ "R-HSA-179888" ], "output_participant_list": [ "R-HSA-179863" ], "enzyme_list": [ "O14672-1", "O43184-1", "P78536-1" ], "evidence": [ { "id": "R-HSA-177946", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-177946" } ] }, { "id": "R-HSA-2168960", "name": "Collagen type XVII ectodomain shedding", "equation": "", "summary": "Collagen type XVII, identified as the 180-kDa bullous pemphigoid antigen or BP180, is a transmembrane protein forming a family with collagen type XIII. It is an important structural component of hemidesmosomes, complexes found in the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane (Franzke et al. 2005). The intracellular ligands of collagen XVII include Beta 4-integrins, plectin and BP230 in the hemidesmosomal plaque (Koster et al. 2003). Extracellular ligands include alpha 6-integrin and laminin-5 in anchoring filaments (Hopkinson et al. 1995, Tasanen et al. 2004). Mutations in the human collagen XVII gene COL17A1 lead to diminished epidermal adhesion and skin blistering in response to minimal shearing forces, a disorder called junctional epidermolysis bullosa (JEB).

A soluble ectodomain form of collagen type XVII referred to as LAD-1 is generated by proteolytic processing of the full length form (Hirako et al. 1988, Sch\u00e4cke et al. 1998). Collagen XVII has a furin consensus sequence but is cleaved by proteinases of the ADAM family rather than furin convertases. ADAM-17 (TACE) appears to be the major physiologically-relevant sheddase for collagen XVII, though ADAM-9 and -10 may substitute (Franzke et al. 2002). These proteinases are activated by furin (Franzke et al. 2005).", "cellular_location": "plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O14672-1", "Q13443-1", "P78536-1" ], "evidence": [ { "id": "R-HSA-2168960", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2168960" } ] }, { "id": "R-HSA-2220944", "name": "ADAM10/17 cleaves ligand-bound NOTCH1 PEST domain mutants to produce NEXT1 PEST domain mutants", "equation": "", "summary": "After NOTCH1 PEST domain mutants bind a DLL (DLL1 or DLL4) or JAG ligand (JAG1 or JAG2) in trans, they are expected to be cleaved by ADAM10 or ADAM17 metalloproteases, like the wild-type ligand-bound NOTCH1, to produce NEXT1 PEST domain mutant fragments (Pan and Rubin 1997, Brou et al. 2000, Hartmann et al. 2002, Gordon et al. 2007, van Tetering et al. 2009).", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O14672-1", "P78536-1" ], "evidence": [ { "id": "R-HSA-2220944", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2220944" } ] }, { "id": "R-HSA-2220976", "name": "NOTCH1 HD+PEST domain mutants are cleaved by ADAM10/17 irrespective of ligand binding", "equation": "", "summary": "NOTCH1 HD domain mutants are cleaved at S2 and S3 sites to produce NEXT1 and NICD1 fragments, respectively, in the absence of DLL/JAG ligand binding, although they are responsive to DLL/JAG ligands. NOTCH1 mutants containing in cis mutations in the HD and PEST domains are expected to be constitutively cleaved at the S2 site by ADAM10/17, like NOTCH1 HD domain mutants (Malecki et al. 2006), resulting in release of NEXT1 PEST domain mutant fragments.", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O14672-1", "P78536-1" ], "evidence": [ { "id": "R-HSA-2220976", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2220976" } ] }, { "id": "R-HSA-2666278", "name": "NOTCH1 t(7;9)(NOTCH1:M1580_K2555) is cleaved to produce NEXT1", "equation": "", "summary": "NOTCH1 t(7;9)(NOTCH1:M1580_K2555) translocation mutant is susceptible to ADAM10/17-mediated cleavage in the absence of ligand binding (Ellisen et al. 1991).", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O14672-1", "P78536-1" ], "evidence": [ { "id": "R-HSA-2666278", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2666278" } ] }, { "id": "R-HSA-2730752", "name": "NOTCH1 HD domain mutants are cleaved to produce NEXT1 irrespective of ligand binding", "equation": "", "summary": "When the gamma-secretase complex is inhibited, the transmembrane fragment of NOTCH1 HD domain mutants that corresponds in size to ADAM10/17 cleavage product NEXT1 accumulates in treated cells. This serves as indirect evidence of cleavage of NOTCH1 heterodimerization domain mutants by ADAM10/17 metalloprotease(s). Importantly, in the case of NOTCH1 HD domain mutants, NEXT1 fragment, as well as the gamma-secretase cleavage product NICD1, are detectable in the absence of DLL/JAG ligand binding. Therefore, NOTCH1 HD domain mutants, although capable of and responsive to ligand binding, are constitutively active because of S2 site cleavage by ADAM10/17 in the absence of ligand. The constitutive S2 site cleavage of NOTCH1 HD domain mutants could be due to their altered conformation or due to increased rate of spontaneous dissociation of NOTCH1 extracellular and transmembrane subunits (Malecki et al. 2006). Both of these scenarios could make the S2 site constitutively accessible to ADAM10/17, but the exact mechanism has not been established.", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O14672-1", "P78536-1" ], "evidence": [ { "id": "R-HSA-2730752", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2730752" } ] }, { "id": "R-HSA-3928660", "name": "ADAM10 cleaves EFNAs", "equation": "", "summary": "After the initial adhesion, the EPH- and ephrin (EFN)-bearing cells break away due to a repulsive response. Repulsive signaling outcomes that promote cell-cell disengagement involve removal of the cell surface EPH:EFN complexes rather than dissociation of the bound proteins (Litterst et al. 2007). Removal of EPH:EFN complexes is mediated by a mechanism involving a metalloprotease enzyme bound to EFN or EPH receptors, which is activated after a time delay to cleave EFN or EPH. Through this mechanism, the mechanical adhesion between EFN and EPH on different cell surfaces is broken, resulting in the two cells moving apart. ADAMs (a disintegrin and a metalloprotease) are proteases responsible for the regulated ectodomain shedding of protein receptors like TGF-alpha, TNF-alpha, and the notch ligand Delta, a process that is critical to their signaling function. Similarly, EFNAs have been identified as substrates for membrane-bound ADAM10/Kuzbanian/KUZ. Flanagan and colleagues showed that ADAM10 is constitutively associated with EFNA2, and mediates the cleavage of EFNA2 ectodomain upon EPHA3:EFNA2 complex formation . This EFN cleavage mechanism was proposed to occur in cis (where both the proteinase and its substrate are within the same cell membrane) (Hattori et al. 2000). Janes et al. show the alternate model to that of the Flangan group. They showed that ADAM10 constitutively associates with the EPHA3 receptor, rather than EFNA and cleaves EFNA5 from its membrane tether only in trans (where the proteinase and its substrate are on opposing cell membrane) (Janes et al. 2005). In both models, EFN is cleaved from the membrane by ADAM10 only after the interaction of EFN with EPH receptors.", "cellular_location": "plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P21709-1", "O14672-1", "P29320-1", "Q5JZY3-1", "P54764-1", "P29317-1", "P29322-1", "P54756-1", "Q15375-1", "Q9UF33-1" ], "evidence": [ { "id": "R-HSA-3928660", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3928660" } ] }, { "id": "R-HSA-4224014", "name": "E-cadherin degradation by ADAM10, ADAM15", "equation": "", "summary": "E-cadherin (CDH1) localizes to the lateral membrane of differentiated epithelia, providing the structural foundation for adherens junctions, multiprotein complexes that link cell-cell contacts to the actin cytoskeleton and various signaling molecules (Perez-Moreno et al. 2003, Baum & Georgiou 2011). The extracellular domain has five cadherin-type repeat ectodomain (EC) modules; the most membrane-distal EC mediates binding with CDH1 on adjacent cells (Boggon et al. 2002). Calcium ions cross-link the EC domains of two CDH1 peptides to form a dimer with a rod-like conformation (Boggon et al. 2002) which is required for cell-cell interaction (Gumbiner 1996, Patel et al. 2006). The cytoplasmic tail of E-cadherin binds to the armadillo repeat protein beta-catenin, a target of the Wnt signaling pathway and a cofactor for TCF/LEF-mediated transcription (Gavard & M\u00e8ge 2005). Beta-catenin in turn binds alpha-catenin, which interacts with the actin microfilament network, actin and the actin-binding proteins vinculin, formins, alpha-actinin, zonula occludin protein, and afadin (Bershadsky 2004). Cell\u2013cell adhesions also contain desmosomes, which link cell contacts to intermediate filaments, and nectin-based, calcium-independent adhesions, which are linked to actin (Takai & Nakanishi 2003, Yin and Green 2004). The critical importance of E-cadherin to normal development and tissue function is demonstrated by embryonic lethal E-cadherin gene mouse knockouts (Larue et al. 1994). Loss of cadherin-based cell-cell adhesion is a hallmark of carcinogenesis, correlating with tumour progression, allowing cells to escape normal growth control signals, resulting in loss of differentiation and increased cell proliferation associated with invasive behaviour (Frixen et al. 1991, Capaldo & Macara 2007).

Full-length 120-kDa CDH1 protein is cleaved in the ectodomain close to the plasma membrane by a number of metalloproteases, generating an extracellular 38-kDa C-terminal fragment (CTF) termed CTF1 which can be further processed by a gamma-secretase-like activity to a soluble 33-kDa CTF2 (Marambaud et al. 2002, Roy & Berx 2008). MMP3, MMP7 (No\u00eb et al. 2001, canine MMPs), MMP9 (Symowicz et al. 2007), plasmin (Ryniers et al. 2002, canine plasmin), Kallikrien 7 (Johnson et al. 2007), ADAM10 (Maretzky et al. 2005) and ADAM15 (Najy et al. 2008) all cleave CDH1 extracellularly, close to the transmembrane region.

Presenilin-1 (Marambaud et al. 2002), the catalytic subunit of gamma-secretase (Herreman et al. 2003, Li et al. 2003), cleaves CDH1 producing a soluble 33-kDa fragment termed CTF2. Other enzymes like caspase-3 (Steinhusen et al. 2001) and calpain-1 (Rios-Doria et al. 2003) cleave E-cadherin in its cytoplasmic part releasing an intracellular 37 kDa c-terminal fragment.", "cellular_location": "plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O14672-1", "Q13444-1" ], "evidence": [ { "id": "R-HSA-4224014", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4224014" } ] }, { "id": "R-HSA-6798747", "name": "Exocytosis of tertiary granule membrane proteins", "equation": "", "summary": "Tertiary (gelatinase) granules are part of a continuum of peroxidase-negative granules formed in myelocytes, metamyelocytes, band cells and segmented neutrophils. They differ from secondary granules by having a low content of antimicrobial substances, and are more readily exocytosed (Sengelov et al. 1995). Tertiary granules are primarily a reservoir of extracellular matrix degrading enzymes and membrane receptors that are required for neutrophil extravasation and diapedesis (Faurschou & Borregaard 2003).", "cellular_location": "plasma membrane, tertiary granule membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P01111-1", "Q13393-1", "Q9Y3L5-1", "P61225-1", "O43451-2", "P00749-1", "O14672-1", "P78325-1", "Q8TF62-1", "P98196-1", "Q13303-1", "P10253-1", "Q5T4S7-1", "P04839-1", "Q68CP4-1", "P23467-1" ], "evidence": [ { "id": "R-HSA-6798747", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798747" } ] }, { "id": "R-HSA-6799350", "name": "Exocytosis of specific granule membrane proteins", "equation": "", "summary": "Secondary (specific) granules are peroxidase-negative and rich in antimicrobial substances (Joiner et al. 1989, Rorvig et al. 2012). They are more irregular and elongated in form than azurophil granules (Bainton et al. 1971). This may reflect volume adjustment in azurophil granules, which are known to proteolytically process a significant fraction of the proteins that are targeted to them, while little or no processing and therefore no increase in osmotic activity due to proteolysis has been observed in secondary granules (Borregaard & Cowland 1997). Secondary and tertiary granules have overlapping contents but can be discriminated by their intrinsic buoyant densities when centrifuged on gradient media (Kjeldsen et al. 1994).", "cellular_location": "plasma membrane, specific granule membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13393-1", "P61225-1", "O15120-1", "Q9NPA2-1", "P62834-1", "P00749-1", "O14672-1", "P78325-1", "P43353-1", "Q8TF62-1", "P98196-1", "Q9Y2Q0-1", "Q12913-1", "Q13303-1", "O15121-1", "O75907-1", "O14975-1", "Q5T4S7-1", "Q10588-1", "P04839-1", "Q68CP4-1", "P23467-1", "P30519-1", "O94804-1" ], "evidence": [ { "id": "R-HSA-6799350", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6799350" } ] }, { "id": "R-HSA-8952289", "name": "FAM20C phosphorylates FAM20C substrates", "equation": "", "summary": "Extracellular serine/threonine protein kinase FAM20C is an extracellular kinase that can phosphorylate a broad range of secreted protein. FAM20C is bound and allosterically activated by the pseudokinase FAM20A (Tagliabracchi et al. 2012, 2015, Cui et al. 2015).
Loss of function mutations in Fam20C cause Raine Syndrome, an osteosclerotic bone dysplasia (Faundes et al. 2014).", "cellular_location": "endoplasmic reticulum lumen", "input_participant_list": [ "R-ALL-8931885" ], "output_participant_list": [ "R-ALL-8931884" ], "enzyme_list": [ "Q6P988-1", "P07237-1", "O14672-1", "Q8NBP7-1", "Q8IXL6-1", "P00450-1", "P04070-1", "Q9BTY2-1", "Q96AD5-1", "Q14703-1", "Q9UM21-1", "Q15084-1", "O95084-1", "O00391-1" ], "evidence": [ { "id": "R-HSA-8952289", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8952289" } ] }, { "id": "R-HSA-9010034", "name": "ADAM10:Zn2+:TSPANs cleaves APP(18-770)", "equation": "", "summary": "ADAM10 (A Disintegrin and Metalloproteinase 10) has been identified as the major physiological alpha-secretase in neurons (Lammich et al. 1999, Kuhn et al. 2010), responsible for cleaving amyloid precursor protein (APP(18-770)) in a non-amyloidogenic manner and producing APPs-alpha (APP(18-687), a neuroprotective APP-derived peptide (Mockett et al. 2017, Endres & Deller 2017). This cleavage also produces a cellular fragment, C83/CTF-alpha (APP(688-770). Cleavage by alpha-secretase at the cell surface is the major pathway in APP processing, accounting for 80\u201390% of APP turnover.", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [ "R-HSA-9010038" ], "output_participant_list": [ "R-HSA-9010028", "R-HSA-9010033" ], "enzyme_list": [ "O14672-1" ], "evidence": [ { "id": "R-HSA-9010034", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9010034" } ] }, { "id": "R-HSA-9010074", "name": "ADAM10:Zn2+:TSPANs translocates from ER lumen to plasma membrane", "equation": "", "summary": "The ADAM (A disintegrin and metalloprotease domain) family are membrane-anchored metalloproteases that mediate the proteolytic cleavage of many transmembrane proteins within their extracellular regions. This so-called ectodomain shedding plays an important role in many cell and developmental processes. ADAM10 (A Disintegrin and Metalloproteinase 10) has been identified as the major physiological alpha-secretase in neurons (Lammich et al. 1999, Kuhn et al. 2010), responsible for cleaving amyloid precursor protein (APP) in a non-amyloidogenic manner and producing APPs-alpha, a neuroprotective APP-derived peptide.

The trafficking of ADAM10 is regulated by a subgroup of the tetraspanin superfamily referred to as TspanC8 tetraspanins. TSPAN4, 14, 15 and 33 are thought to mediate ADAM10 exit from the ER and transport to the plasma membrane in a variety of ways (Noy et al. 2016, Jouannet et al. 2016).", "cellular_location": "endoplasmic reticulum lumen, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O14672-1" ], "evidence": [ { "id": "R-HSA-9010074", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9010074" } ] }, { "id": "R-HSA-9010113", "name": "ADAM10:Zn2+ binds TSPANs", "equation": "", "summary": "The ADAM (A disintegrin and metalloprotease domain) family are membrane-anchored metalloproteases that mediate the proteolytic cleavage of many transmembrane proteins within their extracellular regions. This so-called ectodomain shedding plays an important role in many cell and developmental processes. ADAM10 (A Disintegrin and Metalloproteinase 10) has been identified as the major physiological alpha-secretase in neurons (Lammich et al. 1999, Kuhn et al. 2010), responsible for cleaving amyloid precursor protein (APP) in a non-amyloidogenic manner and producing APPs-alpha, a neuroprotective APP-derived peptide.

The trafficking of ADAM10 is regulated by a subgroup of the tetraspanin superfamily which have eight cysteines in the largest of the two extracellular domains and are referred to as TspanC8 tetraspanins. Tetraspanins associate specifically and directly with a limited number of proteins, and also with other tetraspanins, thereby generating a \\tetraspanin web\\. Through these interactions, tetraspanins are believed to have a role in cell and membrane compartmentalisation (Charrin et al. 2014). TSPAN4, 14, 15 and 33 are thought to mediate ADAM10 exit from the ER and transport to the plasma membrane in a variety of ways (Noy et al. 2016, Jouannet et al. 2016).", "cellular_location": "endoplasmic reticulum lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O14672-1" ], "evidence": [ { "id": "R-HSA-9010113", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9010113" } ] }, { "id": "R-HSA-9013284", "name": "NOTCH3-ligand complex is cleaved to produce NEXT3", "equation": "", "summary": "Ligand binding induces a conformational change in NOTCH3, probably through mechanical pulling of NOTCH3 triggered by endocytosis of the receptor-attached ubiquitinated ligand. This conformational change exposes the S2 site in the extracellular region of NOTCH3 and triggers cleavage of NOTCH3 by ADAM10 metalloprotease, generating the membrane-anchored NOTCH3 fragment NEXT3 (Groot et al. 2014). The extracellular NOTCH3 portion remains attached to the ligand presented on the plasma membrane of a neighboring cell.", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O14672-1" ], "evidence": [ { "id": "R-HSA-9013284", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013284" } ] }, { "id": "R-HSA-9604264", "name": "ADAM10 cleaves NOTCH4", "equation": "", "summary": "Based on sequence similarity with other NOTCH family members and the requirement for knockout of both Notch1 and Notch4 in endothelial cells to recapitulate vasculature defects seen upon endothelial cell-specific Adam10 knockout, it is plausible that ADAM10 cleaves ligand-activated NOTCH4, releasing the membrane-bound NEXT4 fragment (Alabi et al. 2016).", "cellular_location": "plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O14672-1" ], "evidence": [ { "id": "R-HSA-9604264", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9604264" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-8931884", "participant_name": "ADP [endoplasmic reticulum lumen]", "crossref": [ { "id": "C00008", "database": "COMPOUND", "url": "" }, { "id": "456216", "database": "ChEBI", "url": "" }, { "id": "000012360703", "database": "ZINC", "url": "" }, { "id": "C00008", "database": "COMPOUND", "url": "" }, { "id": "000012360703", "database": "ZINC", "url": "" }, { "id": "456216", "database": "ChEBI", "url": "" }, { "id": "456216", "database": "ChEBI", "url": "" }, { "id": "C00008", "database": "COMPOUND", "url": "" }, { "id": "000012360703", "database": "ZINC", "url": "" }, { "id": "C00008", "database": "COMPOUND", "url": "" }, { "id": "456216", "database": "ChEBI", "url": "" }, { "id": "000012360703", "database": "ZINC", "url": "" }, { "id": "C00008", "database": "COMPOUND", "url": "" }, { "id": "456216", "database": "ChEBI", "url": "" }, { "id": "000012360703", "database": "ZINC", "url": "" } ] }, { "participant_id": "R-ALL-8931885", "participant_name": "ATP [endoplasmic reticulum lumen]", "crossref": [ { "id": "30616", "database": "ChEBI", "url": "" }, { "id": "C00002", "database": "COMPOUND", "url": "" }, { "id": "000004261765", "database": "ZINC", "url": "" }, { "id": "C00002", "database": "COMPOUND", "url": "" }, { "id": "30616", "database": "ChEBI", "url": "" }, { "id": "000004261765", "database": "ZINC", "url": "" }, { "id": "C00002", "database": "COMPOUND", "url": "" }, { "id": "30616", "database": "ChEBI", "url": "" }, { "id": "000004261765", "database": "ZINC", "url": "" }, { "id": "000004261765", "database": "ZINC", "url": "" }, { "id": "C00002", "database": "COMPOUND", "url": "" }, { "id": "30616", "database": "ChEBI", "url": "" }, { "id": "30616", "database": "ChEBI", "url": "" }, { "id": "000004261765", "database": "ZINC", "url": "" }, { "id": "C00002", "database": "COMPOUND", "url": 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"id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] } ] }, { "uniprot_ac": "O15120", "gene_name": "AGPAT2", "activity": [ { "ec_number": "2.3.1.51", "activity": "a 1-acyl-sn-glycero-3-phosphate + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphate + CoA.", "evidence": [ { "id": "O15120", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15120" } ] }, { "ec_number": "2.3.1.51", "activity": "", "evidence": [ { "id": "O15120", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15120" } ] } ] }, { "uniprot_ac": "O15121", "gene_name": "DEGS1", "activity": [ { "ec_number": "1.14.19.17", "activity": "an N-acylsphinganine + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = an N-acylsphing-4-enine + 2 Fe(III)-[cytochrome b5] + 2 H2O.", "evidence": [ { "id": "O15121", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15121" } ] }, { "ec_number": "5.2.1.-", "activity": "", "evidence": [ { "id": "O15121", "database": 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"evidence": [ { "id": "O95084", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95084" } ] } ] }, { "uniprot_ac": "P00450", "gene_name": "CP", "activity": [ { "ec_number": "1.16.3.1", "activity": "4 Fe(2+) + 4 H(+) + O2 = 4 Fe(3+) + 2 H2O.", "evidence": [ { "id": "P00450", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00450" } ] }, { "ec_number": "1.16.3.1", "activity": "", "evidence": [ { "id": "P00450", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00450" } ] } ] }, { "uniprot_ac": "P00749", "gene_name": "PLAU", "activity": [ { "ec_number": "3.4.21.73", "activity": "Specific cleavage of Arg-|-Val bond in plasminogen to form plasmin.", "evidence": [ { "id": "P00749", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00749" } ] }, { "ec_number": "3.4.21.73", "activity": "", "evidence": [ { "id": "P00749", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00749" } ] } ] }, { "uniprot_ac": "P01111", "gene_name": "NRAS", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P01111", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01111" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P01111", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01111" } ] } ] }, { "uniprot_ac": "P04070", "gene_name": "PROC", "activity": [ { "ec_number": "3.4.21.69", "activity": "Degradation of blood coagulation factors Va and VIIIa.", "evidence": [ { "id": "P04070", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04070" } ] }, { "ec_number": "3.4.21.69", "activity": "", "evidence": [ { "id": "P04070", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04070" } ] } ] }, { "uniprot_ac": "P04839", "gene_name": "CYBB", "activity": [ { "ec_number": "1.-.-.-", "activity": "", "evidence": [ { "id": "P04839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04839" } ] } ] }, { "uniprot_ac": "P07237", "gene_name": "P4HB", "activity": [ { "ec_number": "5.3.4.1", "activity": "Catalyzes the rearrangement of -S-S- bonds in proteins.", "evidence": [ { "id": "P07237", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07237" } ] }, { "ec_number": "5.3.4.1", "activity": "", "evidence": [ { "id": "P07237", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07237" } ] } ] }, { "uniprot_ac": "P10253", "gene_name": "GAA", "activity": [ { "ec_number": "3.2.1.20", "activity": "Hydrolysis of terminal, non-reducing (1->4)-linked alpha-D-glucose residues with release of alpha-D-glucose.", "evidence": [ { "id": "P10253", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10253" } ] }, { "ec_number": "3.2.1.20", "activity": "", "evidence": [ { "id": "P10253", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10253" } ] } ] }, { "uniprot_ac": "P21709", "gene_name": "EPHA1", "activity": [ { "ec_number": "2.7.10.1", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "P21709", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P21709" } ] }, { "ec_number": "2.7.10.1", "activity": "", "evidence": [ { "id": "P21709", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P21709" } ] } ] }, { "uniprot_ac": "P23467", "gene_name": "PTPRB", "activity": [ { "ec_number": "3.1.3.48", "activity": "H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "P23467", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23467" } ] }, { "ec_number": "3.1.3.48", "activity": "", "evidence": [ { "id": "P23467", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23467" } ] } ] }, { "uniprot_ac": "P29317", "gene_name": "EPHA2", "activity": [ { "ec_number": "2.7.10.1", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "P29317", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29317" } ] }, { "ec_number": "2.7.10.1", "activity": "", "evidence": [ { "id": "P29317", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29317" } ] } ] }, { "uniprot_ac": "P29320", "gene_name": "EPHA3", "activity": [ { "ec_number": "2.7.10.1", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "P29320", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29320" } ] }, { "ec_number": "2.7.10.1", "activity": "", "evidence": [ { "id": "P29320", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29320" } ] } ] }, { "uniprot_ac": "P29322", "gene_name": "EPHA8", "activity": [ { "ec_number": "2.7.10.1", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "P29322", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29322" } ] }, { "ec_number": "2.7.10.1", "activity": "", "evidence": [ { "id": "P29322", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29322" } ] } ] }, { "uniprot_ac": "P30519", "gene_name": "HMOX2", "activity": [ { "ec_number": "1.14.14.18", "activity": "heme b + 3 O2 + 3 reduced [NADPH--hemoprotein reductase] = biliverdin IXalpha + CO + Fe(2+) + H(+) + 3 H2O + 3 oxidized [NADPH--hemoprotein reductase].", "evidence": [ { "id": "P30519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30519" } ] }, { "ec_number": "1.14.14.18", "activity": "", "evidence": [ { "id": "P30519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30519" } ] } ] }, { "uniprot_ac": "P43353", "gene_name": "ALDH3B1", "activity": [ { "ec_number": "1.2.1.5", "activity": "an aldehyde + H2O + NAD(+) = a carboxylate + 2 H(+) + NADH.", "evidence": [ { "id": "P43353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43353" } ] }, { "ec_number": "1.2.1.28", "activity": "benzaldehyde + H2O + NAD(+) = benzoate + 2 H(+) + NADH.", "evidence": [ { "id": "P43353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43353" } ] }, { "ec_number": "1.2.1.7", "activity": "benzaldehyde + H2O + NADP(+) = benzoate + 2 H(+) + NADPH.", "evidence": [ { "id": "P43353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43353" } ] }, { "ec_number": "1.2.1.7", "activity": "", "evidence": [ { "id": "P43353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43353" } ] }, { "ec_number": "1.2.1.5", "activity": "", "evidence": [ { "id": "P43353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43353" } ] }, { "ec_number": "1.2.1.28", "activity": "", "evidence": [ { "id": "P43353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43353" } ] } ] }, { "uniprot_ac": "P54756", "gene_name": "EPHA5", "activity": [ { "ec_number": "2.7.10.1", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "P54756", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54756" } ] }, { "ec_number": "2.7.10.1", "activity": "", "evidence": [ { "id": "P54756", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54756" } ] } ] }, { "uniprot_ac": "P54764", "gene_name": "EPHA4", "activity": [ { "ec_number": "2.7.10.1", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "P54764", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54764" } ] }, { "ec_number": "2.7.10.1", "activity": "", "evidence": [ { "id": "P54764", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54764" } ] } ] }, { "uniprot_ac": "P61225", "gene_name": "RAP2B", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P61225", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61225" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61225", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61225" } ] } ] }, { "uniprot_ac": "P62834", "gene_name": "RAP1A", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P62834", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62834" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P62834", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62834" } ] } ] }, { "uniprot_ac": "P78325", "gene_name": "ADAM8", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "P78325", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P78325" } ] } ] }, { "uniprot_ac": "P78536", "gene_name": "ADAM17", "activity": [ { "ec_number": "3.4.24.86", "activity": "Narrow endopeptidase specificity. Cleaves Pro-Leu-Ala-Gln-Ala-|-Val-Arg-Ser-Ser-Ser in the membrane-bound, 26-kDa form of tumor necrosis factor alpha (TNFalpha). Similarly cleaves other membrane-anchored, cell-surface proteins to 'shed' the extracellular domains.", "evidence": [ { "id": "P78536", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P78536" } ] }, { "ec_number": "3.4.24.86", "activity": "", "evidence": [ { "id": "P78536", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P78536" } ] } ] }, { "uniprot_ac": "P98196", "gene_name": "ATP11A", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "P98196", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P98196" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "P98196", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P98196" } ] } ] }, { "uniprot_ac": "Q10588", "gene_name": "BST1", "activity": [ { "ec_number": "3.2.2.6", "activity": "H2O + NAD(+) = ADP-D-ribose + H(+) + nicotinamide.", "evidence": [ { "id": "Q10588", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q10588" } ] }, { "ec_number": "3.2.2.6", "activity": "", "evidence": [ { "id": "Q10588", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q10588" } ] } ] }, { "uniprot_ac": "Q12913", "gene_name": "PTPRJ", "activity": [ { "ec_number": "3.1.3.48", "activity": "H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "Q12913", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q12913" } ] }, { "ec_number": "3.1.3.48", "activity": "", "evidence": [ { "id": "Q12913", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q12913" } ] } ] }, { "uniprot_ac": "Q13303", "gene_name": "KCNAB2", "activity": [ { "ec_number": "1.1.1.-", "activity": "", "evidence": [ { "id": "Q13303", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13303" } ] } ] }, { "uniprot_ac": "Q13393", "gene_name": "PLD1", "activity": [ { "ec_number": "3.1.4.4", "activity": "a 1-acyl-sn-glycero-3-phosphocholine + H2O = a 1-acyl-sn-glycero-3-phosphate + choline + H(+).", "evidence": [ { "id": "Q13393", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13393" } ] }, { "ec_number": "3.1.4.4", "activity": "", "evidence": [ { "id": "Q13393", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13393" } ] } ] }, { "uniprot_ac": "Q13443", "gene_name": "ADAM9", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "Q13443", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13443" } ] } ] }, { "uniprot_ac": "Q13444", "gene_name": "ADAM15", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "Q13444", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13444" } ] } ] }, { "uniprot_ac": "Q14703", "gene_name": "MBTPS1", "activity": [ { "ec_number": "3.4.21.112", "activity": "Processes precursors containing basic and hydrophobic/aliphatic residues at P4 and P2, respectively, with a relatively relaxed acceptance of amino acids at P1 and P3.", "evidence": [ { "id": "Q14703", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14703" } ] }, { "ec_number": "3.4.21.112", "activity": "", "evidence": [ { "id": "Q14703", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14703" } ] } ] }, { "uniprot_ac": "Q15084", "gene_name": "PDIA6", "activity": [ { "ec_number": "5.3.4.1", "activity": "Catalyzes the rearrangement of -S-S- bonds in proteins.", "evidence": [ { "id": "Q15084", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15084" } ] }, { "ec_number": "5.3.4.1", "activity": "", "evidence": [ { "id": "Q15084", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15084" } ] } ] }, { "uniprot_ac": "Q15375", "gene_name": "EPHA7", "activity": [ { "ec_number": "2.7.10.1", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "Q15375", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15375" } ] }, { "ec_number": "2.7.10.1", "activity": "", "evidence": [ { "id": "Q15375", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15375" } ] } ] }, { "uniprot_ac": "Q5JZY3", "gene_name": "EPHA10", "activity": [ { "ec_number": "2.7.10.1", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "Q5JZY3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5JZY3" } ] }, { "ec_number": "2.7.10.1", "activity": "", "evidence": [ { "id": "Q5JZY3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5JZY3" } ] } ] }, { "uniprot_ac": "Q5T4S7", "gene_name": "UBR4", "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": "Q5T4S7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5T4S7" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q5T4S7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5T4S7" } ] } ] }, { "uniprot_ac": "Q68CP4", "gene_name": "HGSNAT", "activity": [ { "ec_number": "2.3.1.78", "activity": "acetyl-CoA + alpha-D-glucosaminyl-[heparan sulfate](n) = CoA + H(+) + N-acetyl-alpha-D-glucosaminyl-[heparan sulfate](n).", "evidence": [ { "id": "Q68CP4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q68CP4" } ] }, { "ec_number": "2.3.1.78", "activity": "", "evidence": [ { "id": "Q68CP4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q68CP4" } ] } ] }, { "uniprot_ac": "Q6P988", "gene_name": "NOTUM", "activity": [ { "ec_number": "3.1.1.98", "activity": "[Wnt protein]-O-(9Z)-hexadecenoyl-L-serine + H2O = (9Z)-hexadecenoate + [Wnt protein]-L-serine + H(+).", "evidence": [ { "id": "Q6P988", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6P988" } ] }, { "ec_number": "3.1.1.98", "activity": "", "evidence": [ { "id": "Q6P988", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6P988" } ] } ] }, { "uniprot_ac": "Q8IXL6", "gene_name": "FAM20C", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q8IXL6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IXL6" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "Q8IXL6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IXL6" } ] } ] }, { "uniprot_ac": "Q8NBP7", "gene_name": "PCSK9", "activity": [ { "ec_number": "3.4.21.-", "activity": "", "evidence": [ { "id": "Q8NBP7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBP7" } ] } ] }, { "uniprot_ac": "Q8TF62", "gene_name": "ATP8B4", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "Q8TF62", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8TF62" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "Q8TF62", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8TF62" } ] } ] }, { "uniprot_ac": "Q96AD5", "gene_name": "PNPLA2", "activity": [ { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q96AD5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96AD5" } ] }, { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "Q96AD5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96AD5" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "Q96AD5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96AD5" } ] } ] }, { "uniprot_ac": "Q9BTY2", "gene_name": "FUCA2", "activity": [ { "ec_number": "3.2.1.51", "activity": "an alpha-L-fucoside + H2O = an alcohol + L-fucose.", "evidence": [ { "id": "Q9BTY2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BTY2" } ] }, { "ec_number": "3.2.1.51", "activity": "", "evidence": [ { "id": "Q9BTY2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BTY2" } ] } ] }, { "uniprot_ac": "Q9NPA2", "gene_name": "MMP25", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "Q9NPA2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NPA2" } ] } ] }, { "uniprot_ac": "Q9UF33", "gene_name": "EPHA6", "activity": [ { "ec_number": "2.7.10.1", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "Q9UF33", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UF33" } ] }, { "ec_number": "2.7.10.1", "activity": "", "evidence": [ { "id": "Q9UF33", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UF33" } ] } ] }, { "uniprot_ac": "Q9UM21", "gene_name": "MGAT4A", "activity": [ { "ec_number": "2.4.1.145", "activity": "N(4)-{beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->3)-[beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc}-L-asparaginyl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = H(+) + N(4)-{beta-D-GlcNAc-(1->2)-[beta-D-GlcNAc-(1->4)]-alpha-D-Man-(1->3)-[beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc}-L-asparaginyl-[protein] + UDP.", "evidence": [ { "id": "Q9UM21", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UM21" } ] }, { "ec_number": "2.4.1.145", "activity": "", "evidence": [ { "id": "Q9UM21", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UM21" } ] } ] }, { "uniprot_ac": "Q9Y2Q0", "gene_name": "ATP8A1", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "Q9Y2Q0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2Q0" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "Q9Y2Q0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2Q0" } ] } ] }, { "uniprot_ac": "Q9Y3L5", "gene_name": "RAP2C", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "Q9Y3L5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y3L5" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "Q9Y3L5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y3L5" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 267, 278, 439, 551, 556 ], "o_linked_sites": [ 31, 36, 37, 124, 130, 194, 248, 269, 397, 441 ], "snv_sites": [ 36, 98, 130, 175, 194, 213, 239, 248, 261, 269, 278, 431, 490, 526, 553 ], "glycation_sites": [], "phosphorylation_sites": [ 719 ], "sequon_annotation_sites": [ { "start_pos": 267, "end_pos": 269 }, { "start_pos": 278, "end_pos": 280 }, { "start_pos": 439, "end_pos": 441 }, { "start_pos": 551, "end_pos": 553 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 23 }, { "field": "total_sites", "count": 14 }, { "field": "n_linked_glycans", "count": 6 }, { "field": "n_linked_glycan_sites", "count": 7 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 9 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 5 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 17 }, { "field": "total_sites", "count": 10 }, { "field": "n_linked_glycans", "count": 6 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 8 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "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": 17 }, { "field": "total_sites", "count": 15 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 8 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 8 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 368 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }