{ "uniprot_canonical_ac": "P0DJD8-1", "uniprot_ac": "P0DJD8", "uniprot_id": "PEPA3_HUMAN", "mass": { "chemical_mass": 41976.0, "monoisotopic_mass": 41976.0 }, "refseq": { "ac": "NP_001073275", "name": "pepsin A-3 preproprotein", "summary": "This gene encodes a protein precursor of the digestive enzyme pepsin, a member of the peptidase A1 family of endopeptidases. The encoded precursor is secreted by gastric chief cells and undergoes autocatalytic cleavage in acidic conditions to form the active enzyme, which functions in the digestion of dietary proteins. This gene is found in a cluster of related genes on chromosome 11, each of which encodes one of multiple pepsinogens. Pepsinogen levels in serum may serve as a biomarker for atrophic gastritis and gastric cancer. [provided by RefSeq, Jul 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073275" }, "gene_names": [ { "name": "PGA3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P0DJD8", "id": "P0DJD8" }, { "name": "PGA3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073275", "id": "NP_001073275" } ], "protein_names": [ { "name": "Pepsin A-3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P0DJD8" }, { "name": "3.4.23.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P0DJD8" }, { "name": "Pepsinogen-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P0DJD8" }, { "name": "pepsin A-3 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073275", "id": "NP_001073275" }, { "name": "pepsinogen-3; pepsin A-3; pepsinogen 3, group I (pepsinogen A)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073275", "id": "NP_001073275" } ], "function": [ { "annotation": "Diagnostic value of MRI-DWI signal intensity value combined with serum PGI, PGII and CA199 in early gastric cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001073275", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073275" }, { "database": "PubMed", "id": "34817333", "url": "https://glygen.org/publication/PubMed/34817333" } ] }, { "annotation": "Low Pepsinogen I is associated with precancerous gastric lesions.", "evidence": [ { "database": "RefSeq", "id": "NP_001073275", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073275" }, { "database": "PubMed", "id": "25292040", "url": "https://glygen.org/publication/PubMed/25292040" } ] }, { "annotation": "Serum pepsinogen (PG), gastrin, and Helicobacter pylori (H. pylori) IgG antibodies have become indicators for 'serological biopsy' of the gastric mucosa lesion.", "evidence": [ { "database": "RefSeq", "id": "NP_001073275", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073275" }, { "database": "PubMed", "id": "31414587", "url": "https://glygen.org/publication/PubMed/31414587" } ] }, { "annotation": "Shows particularly broad specificity; although bonds involving phenylalanine and leucine are preferred, many others are also cleaved to some extent.", "evidence": [ { "database": "UniProtKB", "id": "P0DJD8", "url": "https://www.uniprot.org/uniprot/P0DJD8#function" } ] }, { "annotation": "This gene encodes a protein precursor of the digestive enzyme pepsin, a member of the peptidase A1 family of endopeptidases. The encoded precursor is secreted by gastric chief cells and undergoes autocatalytic cleavage in acidic conditions to form the active enzyme, which functions in the digestion of dietary proteins. This gene is found in a cluster of related genes on chromosome 11, each of which encodes one of multiple pepsinogens. Pepsinogen levels in serum may serve as a biomarker for atrophic gastritis and gastric cancer. [provided by RefSeq, Jul 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_001073275", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073275" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "79.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000229859", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000229859" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "99.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000229859", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000229859" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "94.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000229859", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000229859" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "59.93", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000229859", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000229859" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "93.92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000229859", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000229859" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "76.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000229859", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000229859" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "52.3", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000229859", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000229859" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "88.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000229859", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000229859" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "81.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000229859", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000229859" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P0DJD8", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0DJD8" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P0DJD8", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0DJD8" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": 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This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P0DJD8", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0DJD8" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P0DJD8", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0DJD8" } ], "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": 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"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": "P0DJD8", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0DJD8" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0DJD8" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ 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gliomas.", "journal": "Oncogene", "date": "2002", "authors": "Mueller W, Mollenhauer J, Stockhammer F, Poustka A, von Deimling A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "12185598", "url": "https://glygen.org/publication/PubMed/12185598" } ] }, { "title": "BR22, a 26 kDa thyroid transcription factor-1 associated protein (TAP26), is expressed in human lung cells.", "journal": "The European respiratory journal", "date": "2003", "authors": "Yang MC, Wang B, Weissler JC, Margraf LR, Yang YS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "12882447", "url": "https://glygen.org/publication/PubMed/12882447" } ] }, { "title": "Molecular cloning and expression of an adenosine A2b receptor from human brain.", "journal": "Biochemical and 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Veenendaal T, Haagsman HP, Weaver TE, Whitsett JA, van Golde LM, Geuze HJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "1415726", "url": "https://glygen.org/publication/PubMed/1415726" } ] }, { "title": "Human surfactant polypeptide SP-B. Disulfide bridges, C-terminal end, and peptide analysis of the airway form.", "journal": "FEBS letters", "date": "1992", "authors": "Johansson J, Jornvall H, Curstedt T", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "1568474", "url": "https://glygen.org/publication/PubMed/1568474" } ] }, { "title": "Human ADA2 belongs to a new family of growth factors with adenosine deaminase activity.", "journal": "The Biochemical journal", "date": "2005", "authors": "Zavialov AV, Engstrom A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "15926889", "url": "https://glygen.org/publication/PubMed/15926889" } ] }, { "title": "Pathways for clearance of surfactant protein A from the lung.", "journal": "American journal of physiology. Lung cellular and molecular physiology", "date": "2005", "authors": "Jain D, Dodia C, Fisher AB, Bates SR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "16006481", "url": "https://glygen.org/publication/PubMed/16006481" } ] }, { "title": "LMCD1/Dyxin is a novel transcriptional cofactor that restricts GATA6 function by inhibiting DNA binding.", "journal": "Molecular and cellular biology", "date": "2005", "authors": "Rath N, Wang Z, Lu MM, Morrisey EE", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "16199866", "url": "https://glygen.org/publication/PubMed/16199866" } ] }, { "title": "Processing of surfactant protein B proprotein by a cathepsin D-like protease.", "journal": "The American journal of physiology", "date": "1992", "authors": "Weaver TE, Lin S, Bogucki B, Dey C", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "1636732", "url": "https://glygen.org/publication/PubMed/1636732" } ] }, { "title": "Surfactant catabolism.", "journal": "Respirology (Carlton, Vic.)", "date": "2006", "authors": "Ikegami M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "16423266", "url": "https://glygen.org/publication/PubMed/16423266" } ] }, { "title": "The TTF-1/TAP26 complex differentially modulates surfactant protein-B (SP-B) and -C (SP-C) promoters in lung cells.", "journal": "Biochemical and biophysical research communications", "date": "2006", "authors": "Yang MC, Guo Y, Liu CC, Weissler JC, Yang YS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "16630564", "url": "https://glygen.org/publication/PubMed/16630564" } ] }, { "title": "Regulation of surfactant secretion in alveolar type II cells.", "journal": "American journal of physiology. 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"MKWLWVLGLVALSECLVKIPLMKIKSMRENLRESHMLKDYLEKYPRSRAHVLLEQRRNPSVTYEPMRNYLDLVYIGTISIGTPPQEFKVVLDTGSSDLWVPSIYCSSPACAHHKVFNPLQSSTFLVSGRPVNVAYGSGEMSGFLAYDTVKIGDLTVVAQAFGLSLEEPGRFMEHAVFDGILGLGYPNLGLQGVTPVFDNLWIQGLIPQNLFAFYLSSKDEKGSVLMLGGVDPSYYHGELHWVPVSKPSYWQLAVDSISMNGEIIACDGGCQGIMDTGTSLVTGPRSSILNIQNLIGAKASGDGEYFLKCDTINTLPDIVFTIDSVTYPVPASAYIRKDHSHNCRSNFEESTDDPSDPELWVLGDVFLRLYFTVFDRANNRIGLASAA", "length": 387 }, "evidence": [ { "id": "45935712", "url": "http://www.informatics.jax.org/homology/45935712", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P0DJD8", "url": "https://www.uniprot.org/uniprot/P0DJD8" } ], "pmid": "" }, { "name": "digestion", "id": "GO:0007586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007586", "evidence": [ { "database": "UniProtKB", "id": "P0DJD8", "url": "https://www.uniprot.org/uniprot/P0DJD8" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P0DJD8", "url": "https://www.uniprot.org/uniprot/P0DJD8" } ], "pmid": "" }, { "name": "multivesicular body lumen", "id": "GO:0097486", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097486", "evidence": [ { "database": "UniProtKB", "id": "P0DJD8", "url": "https://www.uniprot.org/uniprot/P0DJD8" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "aspartic-type endopeptidase activity", "id": "GO:0004190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004190", "evidence": [ { "database": "UniProtKB", "id": "P0DJD8", "url": "https://www.uniprot.org/uniprot/P0DJD8" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-HSA-5684864", "name": "NAPSA, CTSH, PGA3-5 cleave pro-SFTPB", "equation": "", "summary": "In the multivesicular body, surfactant precursor protein pro-SFTPB is most likely proteolytically cleaved by napsin-A (NAPSA), cathepsin-H (CTSH) and pepsinogens 3-5 (PGA3-5) (Chuman et al. 1999, Fuchs & Gassen 1989, Athauda et al. 1989, Johansson et al. 1992). The resultant mature peptide SFTPB (chain 201-279) forms a dimeric, disulfide-linked protein (Johansson et al. 1992) and is trafficked to lamellar bodies.", "cellular_location": "multivesicular body lumen", "input_participant_list": [ "R-HSA-5685255" ], "output_participant_list": [ "R-HSA-5685901", "R-HSA-5685910", "R-HSA-5685911" ], "enzyme_list": [ "O96009-1", "P0DJD7-1", "P0DJD9-1", "P0DJD8-1" ], "evidence": [ { "id": "R-HSA-5684864", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5684864" } ] }, { "id": "R-HSA-5685902", "name": "NAPSA, CTSH, PGA3-5 cleave pro-SFTPC", "equation": "", "summary": "In the multivesicular body, surfactant precursor protein pro-SFTPC is most likely proteolytically cleaved by napsin-A (NAPSA), cathepsin-H (CTSH) and pepsinogens 3-5 (PGA3-5) (Chuman et al. 1999, Fuchs & Gassen 1989, Athauda et al. 1989, Johansson et al. 1988). The resultant mature peptide SFTPC (chain 24-58) is trafficked to lamellar bodies.", "cellular_location": "multivesicular body lumen", "input_participant_list": [ "R-ALL-5685882" ], "output_participant_list": [ "R-HSA-5685871", "R-HSA-5685899" ], "enzyme_list": [ "O96009-1", "P0DJD7-1", "P0DJD9-1", "P0DJD8-1" ], "evidence": [ { "id": "R-HSA-5685902", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5685902" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-5685882", "participant_name": "H2O [multivesicular body lumen]", "crossref": [ { "id": "8145132", "database": "PubChem Substance", "url": "" }, { "id": "C00001", "database": "COMPOUND", "url": "" }, { "id": "HMDB0002111", "database": "HMDB Metabolite", "url": "" }, { "id": "15377", "database": "ChEBI", "url": "" }, { "id": "C00001", "database": "COMPOUND", "url": "" }, { "id": "15377", "database": "ChEBI", "url": "" }, { "id": "8145132", "database": "PubChem Substance", "url": "" }, { "id": "HMDB0002111", "database": "HMDB Metabolite", "url": "" }, { "id": "C00001", "database": "COMPOUND", "url": "" }, { "id": "15377", "database": "ChEBI", "url": "" }, { "id": "8145132", "database": "PubChem Substance", "url": "" }, { "id": "HMDB0002111", "database": "HMDB Metabolite", "url": "" }, { "id": "15377", "database": "ChEBI", "url": "" }, { "id": "HMDB0002111", "database": "HMDB Metabolite", "url": "" }, { "id": "8145132", "database": "PubChem Substance", "url": "" }, { "id": "C00001", "database": "COMPOUND", "url": "" }, { "id": "15377", "database": "ChEBI", "url": "" }, { "id": "HMDB0002111", "database": "HMDB Metabolite", "url": "" }, { "id": "8145132", "database": "PubChem Substance", "url": "" }, { "id": "C00001", "database": "COMPOUND", "url": "" } ] }, { "participant_id": "R-HSA-5685255", "participant_name": "pro-SFTPB [multivesicular body lumen]", "crossref": [ { "id": "P07988", "database": "UniProt", "url": "" }, { "id": "1DFW", "database": "PDB", "url": "" }, { "id": "ENSG00000168878-SFTPB", "database": "HPA", "url": "" }, { "id": "ENST00000409383", "database": "Ensembl", "url": "" }, { "id": "ENSP00000428719", "database": "Ensembl", "url": "" }, { "id": "1SSZ", "database": "PDB", "url": "" }, { "id": "ENSP00000386346", "database": "Ensembl", "url": "" }, { "id": "ENSP00000377409", "database": "Ensembl", "url": "" }, { "id": "2M1T", "database": "PDB", "url": "" }, { "id": "ENST00000393822", "database": "Ensembl", "url": "" }, { "id": "15278", "database": "Orphanet", "url": "" }, { "id": "ENST00000519937", "database": "Ensembl", "url": "" }, { "id": "NP_000533.3", "database": "RefSeq", "url": "" }, { "id": "1KMR", "database": "PDB", "url": "" }, { "id": "P07988", "database": "GeneCards", "url": "" }, { "id": "ENSG00000168878", "database": "OpenTargets", "url": "" }, { "id": "NP_942140.2", "database": "RefSeq", "url": "" }, { "id": "1RG3", "database": "PDB", "url": "" }, { "id": "P07988", "database": "PRO", "url": "" }, { "id": "2DWF", "database": "PDB", "url": "" }, { "id": "2JOU", "database": "PDB", "url": "" }, { "id": "P07988", "database": "Pharos - 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