{ "uniprot_canonical_ac": "O96009-1", "uniprot_ac": "O96009", "uniprot_id": "NAPSA_HUMAN", "mass": { "chemical_mass": 45387.0, "monoisotopic_mass": 45387.0 }, "refseq": { "ac": "NP_004842", "name": "napsin-A preproprotein", "summary": "This gene encodes a member of the peptidase A1 family of aspartic proteases. The encoded preproprotein is proteolytically processed to generate an activation peptide and the mature protease. The activation peptides of aspartic proteinases function as inhibitors of the protease active site. These peptide segments, or pro-parts, are deemed important for correct folding, targeting, and control of the activation of aspartic proteinase zymogens. The encoded protease may play a role in the proteolytic processing of pulmonary surfactant protein B in the lung and may function in protein catabolism in the renal proximal tubules. This gene has been described as a marker for lung adenocarcinoma and renal cell carcinoma. [provided by RefSeq, Feb 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004842" }, "gene_names": [ { "name": "NAPSA", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O96009", "id": "O96009" }, { "name": "KAP; Kdap; NAP1; NAPA; SNAPA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004842", "id": "NP_004842" }, { "name": "NAP1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O96009", "id": "O96009" }, { "name": "NAPA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O96009", "id": "O96009" }, { "name": "NAPSA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004842", "id": "NP_004842" } ], "protein_names": [ { "name": "Napsin-A", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O96009" }, { "name": "3.4.23.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O96009" }, { "name": "ASP4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O96009" }, { "name": "Asp 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O96009" }, { "name": "Aspartyl protease 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O96009" }, { "name": "Napsin-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O96009" }, { "name": "TA01/TA02", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O96009" }, { "name": "napsin-A preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004842", "id": "NP_004842" }, { "name": "pronapsin A; napsin-A; ASP4; asp 4; napsin-1; TA01/TA02; aspartyl protease 4; kidney-derived aspartic protease-like protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004842", "id": "NP_004842" } ], "function": [ { "annotation": "A study on the immunohistochemical expression of napsin A in oral squamous cell carcinomas, intraepithelial neoplasia, and normal oral mucosa.", "evidence": [ { "database": "RefSeq", "id": "NP_004842", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004842" }, { "database": "PubMed", "id": "33876717", "url": "https://glygen.org/publication/PubMed/33876717" } ] }, { "annotation": "May be involved in processing of pneumocyte surfactant precursors.", "evidence": [ { "database": "UniProtKB", "id": "O96009", "url": "https://www.uniprot.org/uniprot/O96009#function" } ] }, { "annotation": "Napsin A is a useful marker that can assist in the diagnosis of both lung adenocarcinomas and renal cell carcinomas[review] Review article", "evidence": [ { "database": "RefSeq", "id": "NP_004842", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004842" }, { "database": "PubMed", "id": "22156835", "url": "https://glygen.org/publication/PubMed/22156835" } ] }, { "annotation": "P504S/alpha-methylacyl-CoA racemase, HNF1beta and napsin A in morular metaplasia and clear cell carcinoma of the endometrium: An immunohistochemical analysis.", "evidence": [ { "database": "RefSeq", "id": "NP_004842", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004842" }, { "database": "PubMed", "id": "35696768", "url": "https://glygen.org/publication/PubMed/35696768" } ] }, { "annotation": "Role of Napsin A and Survivin Immunohistochemical Expression in Bronchogenic Adenocarcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004842", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004842" }, { "database": "PubMed", "id": "33247694", "url": "https://glygen.org/publication/PubMed/33247694" } ] }, { "annotation": "This gene encodes a member of the peptidase A1 family of aspartic proteases. The encoded preproprotein is proteolytically processed to generate an activation peptide and the mature protease. The activation peptides of aspartic proteinases function as inhibitors of the protease active site. These peptide segments, or pro-parts, are deemed important for correct folding, targeting, and control of the activation of aspartic proteinase zymogens. The encoded protease may play a role in the proteolytic processing of pulmonary surfactant protein B in the lung and may function in protein catabolism in the renal proximal tubules. This gene has been described as a marker for lung adenocarcinoma and renal cell carcinoma. [provided by RefSeq, Feb 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_004842", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004842" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1214907251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1214907251" }, { "id": "rs1214907251", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1214907251#frequency_tab" }, { "id": "rs1214907251", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1214907251" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 133, "end_pos": 133, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->SGT).", "chr_id": "19", "chr_pos": "50361733", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N133", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1601122262", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1601122262" }, { "id": "rs1601122262", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1601122262" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 338, "end_pos": 338, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->NLP).", "chr_id": "19", "chr_pos": "50358777", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T338", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O96009", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O96009" } ], "glycoeffect": [], "start_pos": 343, "end_pos": 343, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "50359019", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V343", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", 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"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": 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"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": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O96009", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O96009" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O96009", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O96009" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O96009", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O96009" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000599233.1", "url": "https://www.ensembl.org/id/ENST00000599233.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000469763.1", "url": "https://www.ensembl.org/id/ENSP00000469763.1" } ] } }, { "isoform_ac": "M0QXC5-1", "url": "", "sequence": { "sequence": "MSPPPLLQPLLLLLPLLNVEPSGATLIRIPLHRVQPGRRILNLLRGWREPAELPKLGAPSPGDKPIFVPLSNYRDVQYFGEIGLGTPPQNFTVAFDTGSSNLWVPSRRCHFFSVPCSSSSFQANGTKFAIQYGTGRVDGILSEDKLTIGGIKGASVIFGEALWEPSLVFAFAHFDGILGLGFPILSVEGVRPPMDVLVEQGLLDKPVFSFYLNRDPEEPDGGELVLGGSDPAHYIPPLTFVPVTVPAYWQIHMERVKVGPGLTLCAKGCAAILDTGTSLITGPTEEIRALHAAIGGIPLLAGEYIILCSEIPKLPAVSFLLGGVWFNLTAHDYVIQTTRNGVRLCLSGFQALDVPPPAGPFWILGDVFLGTYVAVFDRGDMKSSARVGLARARTRGADLGWGETAQAQFPG", "length": 411, "header": "tr|M0QXC5-1|NAPSA_HUMAN Computationally mapped isoform of Napsin-A OS=Homo sapiens OX=9606 GN=NAPSA PE=1 SV=2 CANONICAL=O96009-1" }, "locus": { "chromosome": "19", "start_pos": 50365621, "end_pos": 50358556, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000598915.6", "url": "https://www.ensembl.org/id/ENST00000598915.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000469061.2", "url": "https://www.ensembl.org/id/ENSP00000469061.2" } ] } }, { "isoform_ac": "O96009-1", "url": "", "sequence": { "sequence": "MSPPPLLQPLLLLLPLLNVEPSGATLIRIPLHRVQPGRRILNLLRGWREPAELPKLGAPSPGDKPIFVPLSNYRDVQYFGEIGLGTPPQNFTVAFDTGSSNLWVPSRRCHFFSVPCWLHHRFDPKASSSFQANGTKFAIQYGTGRVDGILSEDKLTIGGIKGASVIFGEALWEPSLVFAFAHFDGILGLGFPILSVEGVRPPMDVLVEQGLLDKPVFSFYLNRDPEEPDGGELVLGGSDPAHYIPPLTFVPVTVPAYWQIHMERVKVGPGLTLCAKGCAAILDTGTSLITGPTEEIRALHAAIGGIPLLAGEYIILCSEIPKLPAVSFLLGGVWFNLTAHDYVIQTTRNGVRLCLSGFQALDVPPPAGPFWILGDVFLGTYVAVFDRGDMKSSARVGLARARTRGADLGWGETAQAQFPG", "length": 420, "header": "sp|O96009-1|NAPSA_HUMAN Isoform 1 of Napsin-A OS=Homo sapiens OX=9606 GN=NAPSA PE=1 SV=1 CANONICAL=O96009-1" }, "locus": { "chromosome": "19", "start_pos": 50365621, "end_pos": 50358556, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000253719.7", "url": "https://www.ensembl.org/id/ENST00000253719.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000253719.1", "url": "https://www.ensembl.org/id/ENSP00000253719.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 133, "start_aa": "Asn", "end_pos": 133, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn133", "evidence": [ { "id": "O96009", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O96009#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 336, "start_aa": "Asn", "end_pos": 336, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn336", "evidence": [ { "id": "O96009", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O96009#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 90, "start_aa": "Asn", "end_pos": 90, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn90", "evidence": [ { "id": "O96009", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O96009#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported" ], "publication": [ { "title": "Crystal structure of the trimeric alpha-helical coiled-coil and the three lectin domains of human lung surfactant protein D.", "journal": "Structure (London, England : 1993)", "date": "1999", "authors": "Hakansson K, Lim NK, Hoppe HJ, Reid KB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "10368295", "url": "https://glygen.org/publication/PubMed/10368295" } ] }, { "title": "Cloning of gp-340, a putative opsonin receptor for lung surfactant protein D.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Holmskov U, Mollenhauer J, Madsen J, Vitved L, Gronlund J, Tornoe I, Kliem A, Reid KB, Poustka A, Skjodt K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "10485905", "url": "https://glygen.org/publication/PubMed/10485905" } ] }, { "title": "Characterization of human A(2B) adenosine receptors: radioligand binding, western blotting, and coupling to G(q) in human embryonic kidney 293 cells and HMC-1 mast cells.", "journal": "Molecular pharmacology", "date": "1999", "authors": "Linden J, Thai T, Figler H, Jin X, Robeva AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "10496952", "url": "https://glygen.org/publication/PubMed/10496952" } ] }, { "title": "Napsin A, a member of the aspartic protease family, is abundantly expressed in normal lung and kidney tissue and is expressed in lung adenocarcinomas.", "journal": "FEBS Lett.", "date": "1999", "authors": "Chuman Y, Bergman A, Ueno T, Saito S, Sakaguchi K, Alaiya AA, Franzen B, Bergman T, Arnott D, Auer G, Appella E, Jornvall H, Linder S", "evidence": [ { "database": "UniProtKB", "id": "O96009", "url": "https://www.uniprot.org/uniprot/O96009" }, { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "10580105", "url": "https://glygen.org/publication/PubMed/10580105" } ] }, { "title": "Membrane-anchored aspartyl protease with Alzheimer's disease beta-secretase activity.", "journal": "Nature", "date": "1999", "authors": "Yan R, Bienkowski MJ, Shuck ME, Miao H, Tory MC, Pauley AM, Brashier JR, Stratman NC, Mathews WR, Buhl AE, Carter DB, Tomasselli AG, Parodi LA, Heinrikson RL, Gurney ME", "evidence": [ { "database": "UniProtKB", "id": "O96009", "url": "https://www.uniprot.org/uniprot/O96009" } ], "reference": [ { "type": "PubMed", "id": "10591213", "url": "https://glygen.org/publication/PubMed/10591213" } ] }, { "title": "GATA-6 activates transcription of surfactant protein A.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Bruno MD, Korfhagen TR, Liu C, Morrisey EE, Whitsett JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "10625644", "url": "https://glygen.org/publication/PubMed/10625644" } ] }, { "title": "Secretion of surfactant protein C, an integral membrane protein, requires the N-terminal propeptide.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Conkright JJ, Bridges JP, Na CL, Voorhout WF, Trapnell B, Glasser SW, Weaver TE", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "11278984", "url": "https://glygen.org/publication/PubMed/11278984" } ] }, { "title": "Human salivary agglutinin binds to lung surfactant protein-D and is identical with scavenger receptor protein gp-340.", "journal": "The Biochemical journal", "date": "2001", "authors": "Ligtenberg TJ, Bikker FJ, Groenink J, Tornoe I, Leth-Larsen R, Veerman EC, Nieuw Amerongen AV, Holmskov U", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "11563989", "url": "https://glygen.org/publication/PubMed/11563989" } ] }, { "title": "Rare mutations of the DMBT1 gene in human astrocytic 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 biophysical research communications", "date": "1992", "authors": "Pierce KD, Furlong TJ, Selbie LA, Shine J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "1325798", "url": "https://glygen.org/publication/PubMed/1325798" } ] }, { "title": "Purification, characterization and cDNA cloning of human lung surfactant protein D.", "journal": "The Biochemical journal", "date": "1992", "authors": "Lu J, Willis AC, Reid KB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "1339284", "url": "https://glygen.org/publication/PubMed/1339284" } ] }, { "title": "Intracellular processing of pulmonary surfactant protein B in an endosomal/lysosomal compartment.", "journal": "The American journal of physiology", "date": "1992", "authors": "Voorhout WF, 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. Lung cellular and molecular physiology", "date": "2007", "authors": "Andreeva AV, Kutuzov MA, Voyno-Yasenetskaya TA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "17496061", "url": "https://glygen.org/publication/PubMed/17496061" } ] }, { "title": "Salivary agglutinin/glycoprotein-340/DMBT1: a single molecule with variable composition and with different functions in infection, inflammation and cancer.", "journal": "Biological chemistry", "date": "2007", "authors": "Ligtenberg AJ, Veerman EC, Nieuw Amerongen AV, Mollenhauer J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "18020944", "url": "https://glygen.org/publication/PubMed/18020944" } ] }, { "title": "The structure of the GM-CSF receptor complex reveals a distinct mode of cytokine receptor activation.", "journal": "Cell", "date": "2008", "authors": "Hansen G, Hercus TR, McClure BJ, Stomski FC, Dottore M, Powell J, Ramshaw H, Woodcock JM, Xu Y, Guthridge M, McKinstry WJ, Lopez AF, Parker MW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "18692472", "url": "https://glygen.org/publication/PubMed/18692472" } ] }, { "title": "Human surfactant protein D: SP-D contains a C-type lectin carbohydrate recognition domain.", "journal": "Archives of biochemistry and biophysics", "date": "1991", "authors": "Rust K, Grosso L, Zhang V, Chang D, Persson A, Longmore W, Cai GZ, Crouch E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "1898081", "url": "https://glygen.org/publication/PubMed/1898081" } ] }, { "title": "Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer.", "journal": "American journal of human genetics", "date": "2009", "authors": "Wang Y, Kuan PJ, Xing C, Cronkhite JT, Torres F, Rosenblatt RL, DiMaio JM, Kinch LN, Grishin NV, Garcia CK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "19100526", "url": "https://glygen.org/publication/PubMed/19100526" } ] }, { "title": "Palmitoylation of cytoskeleton associated protein 4 by DHHC2 regulates antiproliferative factor-mediated signaling.", "journal": "Molecular biology of the cell", "date": "2009", "authors": "Planey SL, Keay SK, Zhang CO, Zacharias DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "19144824", "url": "https://glygen.org/publication/PubMed/19144824" } ] }, { "title": "Regulation of ATP-dependent surfactant secretion and activation of second-messenger systems in alveolar type II cells.", "journal": "The American journal of physiology", "date": "1991", "authors": "Voyno-Yasenetskaya TA, Dobbs LG, Williams MC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "1928448", "url": "https://glygen.org/publication/PubMed/1928448" } ] }, { "title": "Alveolar surfactant homeostasis and the pathogenesis of pulmonary disease.", "journal": "Annual review of medicine", "date": "2010", "authors": "Whitsett JA, Wert SE, Weaver TE", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "19824815", "url": "https://glygen.org/publication/PubMed/19824815" } ] }, { "title": "P63 (CKAP4) as an SP-A receptor: implications for surfactant turnover.", "journal": "Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology", "date": "2010", "authors": "Bates SR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "20054143", "url": "https://glygen.org/publication/PubMed/20054143" } ] }, { "title": "Structural basis for the growth factor activity of human adenosine deaminase ADA2.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Zavialov AV, Yu X, Spillmann D, Lauvau G, Zavialov AV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "20147294", "url": "https://glygen.org/publication/PubMed/20147294" } ] }, { "title": "The molecular basis of pulmonary alveolar proteinosis.", "journal": "Clinical immunology (Orlando, Fla.)", "date": "2010", "authors": "Carey B, Trapnell BC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "20338813", "url": "https://glygen.org/publication/PubMed/20338813" } ] }, { "title": "Review: Gp-340/DMBT1 in mucosal innate immunity.", "journal": "Innate immunity", "date": "2010", "authors": "Madsen J, Mollenhauer J, Holmskov U", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "20418254", "url": "https://glygen.org/publication/PubMed/20418254" } ] }, { "title": "Napsin A expression in lung and kidney neoplasia: a review and update.", "journal": "Advances in anatomic pathology", "date": "2012", "authors": "Ordonez NG", 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"https://glygen.org/publication/PubMed/33876717" } ] }, { "title": "Pulmonary alveolar type II cells isolated from rats. 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SP-D is encoded on chromosome 10q22.2-23.1.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Crouch E, Rust K, Veile R, Donis-Keller H, Grosso L", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "8428971", "url": "https://glygen.org/publication/PubMed/8428971" } ] }, { "title": "Characterization and expression of the human A2a adenosine receptor gene.", "journal": "Journal of neurochemistry", "date": "1996", "authors": "Peterfreund RA, MacCollin M, Gusella J, Fink JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "8522976", "url": "https://glygen.org/publication/PubMed/8522976" } ] }, { "title": "Adenosine receptor-induced cyclic AMP generation and inhibition of 5-hydroxytryptamine release in human platelets.", "journal": "British journal of clinical pharmacology", "date": "1995", "authors": "Cooper JA, Hill SJ, Alexander SP, Rubin PC, Horn EH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "8527267", "url": "https://glygen.org/publication/PubMed/8527267" } ] }, { "title": "Transcription of the lung-specific surfactant protein C gene is mediated by thyroid transcription factor 1.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Kelly SE, Bachurski CJ, Burhans MS, Glasser SW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "8636114", "url": "https://glygen.org/publication/PubMed/8636114" } ] }, { "title": "Regulation of surfactant protein gene transcription.", "journal": "Biochimica et biophysica acta", "date": "1998", "authors": "Whitsett JA, Glasser SW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "9813380", "url": "https://glygen.org/publication/PubMed/9813380" } ] }, { "title": "Napsins: new human aspartic proteinases. Distinction between two closely related genes.", "journal": "FEBS Lett.", "date": "1998", "authors": "Tatnell PJ, Powell DJ, Hill J, Smith TS, Tew DG, Kay J", "evidence": [ { "database": "UniProtKB", "id": "O96009", "url": "https://www.uniprot.org/uniprot/O96009" } ], "reference": [ { "type": "PubMed", "id": "9877162", "url": "https://glygen.org/publication/PubMed/9877162" } ] } ], "pathway": [ { "id": "hsa:9476", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9476", "resource": "KEGG Pathway" }, { "id": "R-HSA-5683826", "name": "Surfactant metabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826", "resource": "Reactome", "description": "Surfactant metabolism" } ], "orthologs": [ { "uniprot_canonical_ac": "F7FL28-1", "protein_name": "Napsin A aspartic peptidase", "gene_name": "Napsa", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MLPPPLLLLLCLVLLGNLEPAATLIRVPLRRIHPGHRIFSPLYGWEQRAELSRTPTSGGKTAFVPLSKFMNTQYFGDIGLGTPPQNFTVVFDTGSSNLWVPSTRCHFFSLACWFHHRFNPKASSSFRPNGTKFAIQYGTGRLSGILSRDNLTIGGIHNVSVTFGEALWEPSLVFALARFDGILGLGFPTLAVGGVQPPLDALVEQRLLEKPVFSFYLNRDSEGSDGGELVLGGSDPDHYVPPLTFIPVTIPAYWQVHMQSSAPSFPHSVKVGTGLNLCAQGCGAILDTGTSLITGPSEEIRALNKAVGGFPLLTGQYLIQCSKIPELPTVSFSLGGVWFNLTGQDYVIKILQSDVGLCLLGFQALDIPKPEGPLWILGDVFLGSYVAVFDRGDKNIGPRVGLARARSRATGRAERKATQAQFLRRRPG", "length": 428 }, "evidence": [ { "id": "O96009", "url": "https://omabrowser.org/oma/group/O96009/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "O09043-1", "protein_name": "Napsin-A", "gene_name": "Napsa", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSPLLLLLLCLLLGNLEPEEAKLIRVPLQRIHLGHRILNPLNGWEQLAELSRTSTSGGNPSFVPLSKFMNTQYFGTIGLGTPPQNFTVVFDTGSSNLWVPSTRCHFFSLACWFHHRFNPKASSSFRPNGTKFAIQYGTGRLSGILSQDNLTIGGIHDAFVTFGEALWEPSLIFALAHFDGILGLGFPTLAVGGVQPPLDAMVEQGLLEKPVFSFYLNRDSEGSDGGELVLGGSDPAHYVPPLTFIPVTIPAYWQVHMESVKVGTGLSLCAQGCSAILDTGTSLITGPSEEIRALNKAIGGYPFLNGQYFIQCSKTPTLPPVSFHLGGVWFNLTGQDYVIKILQSDVGLCLLGFQALDIPKPAGPLWILGDVFLGPYVAVFDRGDKNVGPRVGLARAQSRSTDRAERRTTQAQFFKRRPG", "length": 419 }, "evidence": [ { "id": "45932385", "url": "http://www.informatics.jax.org/homology/45932385", "database": "MGI" }, { "id": "O96009", "url": "https://omabrowser.org/oma/group/O96009/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "O96009", "url": "https://www.uniprot.org/uniprot/O96009" } ], "pmid": "" }, { "name": "surfactant homeostasis", "id": "GO:0043129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043129", "evidence": [ { "database": "UniProtKB", "id": "O96009", "url": "https://www.uniprot.org/uniprot/O96009" } ], "pmid": "" }, { "name": "membrane protein proteolysis", "id": "GO:0033619", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033619", "evidence": [ { "database": "UniProtKB", "id": "O96009", "url": "https://www.uniprot.org/uniprot/O96009" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "aspartic-type endopeptidase activity", "id": "GO:0004190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004190", "evidence": [ { "database": "UniProtKB", "id": "O96009", "url": "https://www.uniprot.org/uniprot/O96009" } ], "pmid": "" }, { "name": "endopeptidase activity", "id": "GO:0004175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004175", "evidence": [ { "database": "UniProtKB", "id": "O96009", "url": "https://www.uniprot.org/uniprot/O96009" } ], "pmid": "" }, { "name": "peptidase activity", "id": "GO:0008233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233", "evidence": [ { "database": "UniProtKB", "id": "O96009", "url": "https://www.uniprot.org/uniprot/O96009" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "O96009", "url": "https://www.uniprot.org/uniprot/O96009" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O96009", "url": "https://www.uniprot.org/uniprot/O96009" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "O96009", "url": "https://www.uniprot.org/uniprot/O96009" } ], "pmid": "" }, { "name": "alveolar lamellar body", "id": "GO:0097208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097208", "evidence": [ { "database": "UniProtKB", "id": "O96009", "url": "https://www.uniprot.org/uniprot/O96009" } ], "pmid": "" }, { "name": "multivesicular body lumen", "id": "GO:0097486", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097486", "evidence": [ { "database": "UniProtKB", "id": "O96009", "url": "https://www.uniprot.org/uniprot/O96009" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 133, "end_pos": 135, "annotation": "n_glycosylation_sequon" }, { "start_pos": 336, "end_pos": 338, "annotation": "n_glycosylation_sequon" }, { "start_pos": 90, "end_pos": 92, "annotation": "n_glycosylation_sequon" } ], "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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Targets", "url": "" }, { "id": "1RG3", "database": "PDB", "url": "" }, { "id": "ENST00000393822", "database": "Ensembl", "url": "" } ] }, { "participant_id": "R-HSA-5685910", "participant_name": "SFTPB(201-279) [multivesicular body lumen]", "crossref": [ { "id": "15278", "database": "Orphanet", "url": "" }, { "id": "ENSG00000168878-SFTPB", "database": "HPA", "url": "" }, { "id": "P07988", "database": "PRO", "url": "" }, { "id": "1RG4", "database": "PDB", "url": "" }, { "id": "ENSP00000386346", "database": "Ensembl", "url": "" }, { "id": "P07988", "database": "GeneCards", "url": "" }, { "id": "P07988", "database": "UniProt", "url": "" }, { "id": "NP_942140.2", "database": "RefSeq", "url": "" }, { "id": "2M1T", "database": "PDB", "url": "" }, { "id": "2JOU", "database": "PDB", "url": "" }, { "id": "ENSP00000428719", "database": "Ensembl", "url": "" }, { "id": "NP_000533.3", "database": "RefSeq", "url": "" }, { "id": "2M0H", "database": "PDB", "url": "" }, { "id": "ENSG00000168878", "database": "OpenTargets", "url": "" }, { "id": "ENSP00000377409", "database": "Ensembl", "url": "" }, { "id": "ENSG00000168878", "database": "Ensembl", "url": "" }, { "id": "ENST00000409383", "database": "Ensembl", "url": "" }, { "id": "2DWF", "database": "PDB", "url": "" }, { "id": "ENST00000519937", "database": "Ensembl", "url": "" }, { "id": "1DFW", "database": "PDB", "url": "" }, { "id": "1KMR", "database": "PDB", "url": "" }, { "id": "1SSZ", "database": "PDB", "url": "" }, { "id": "P07988", "database": "Pharos - 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Cleaves 1-Phe-|-Val-2, 4-Gln-|-His-5, 13-Glu-|-Ala-14, 14-Ala-|-Leu-15, 15-Leu-|-Tyr-16, 16-Tyr-|-Leu-17, 23-Gly-|-Phe-24, 24-Phe-|-Phe-25 and 25-Phe-|-Tyr-26 bonds in the B chain of insulin.", "evidence": [ { "id": "P0DJD7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DJD7" } ] }, { "ec_number": "3.4.23.1", "activity": "", "evidence": [ { "id": "P0DJD7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DJD7" } ] } ] }, { "uniprot_ac": "P0DJD8", "gene_name": "PGA3", "activity": [ { "ec_number": "3.4.23.1", "activity": "Preferential cleavage: hydrophobic, preferably aromatic, residues in P1 and P1' positions. Cleaves 1-Phe-|-Val-2, 4-Gln-|-His-5, 13-Glu-|-Ala-14, 14-Ala-|-Leu-15, 15-Leu-|-Tyr-16, 16-Tyr-|-Leu-17, 23-Gly-|-Phe-24, 24-Phe-|-Phe-25 and 25-Phe-|-Tyr-26 bonds in the B chain of insulin.", "evidence": [ { "id": "P0DJD8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DJD8" } ] }, { "ec_number": "3.4.23.1", "activity": "", "evidence": [ { "id": "P0DJD8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DJD8" } ] } ] }, { "uniprot_ac": "P0DJD9", "gene_name": "PGA5", "activity": [ { "ec_number": "3.4.23.1", "activity": "Preferential cleavage: hydrophobic, preferably aromatic, residues in P1 and P1' positions. Cleaves 1-Phe-|-Val-2, 4-Gln-|-His-5, 13-Glu-|-Ala-14, 14-Ala-|-Leu-15, 15-Leu-|-Tyr-16, 16-Tyr-|-Leu-17, 23-Gly-|-Phe-24, 24-Phe-|-Phe-25 and 25-Phe-|-Tyr-26 bonds in the B chain of insulin.", "evidence": [ { "id": "P0DJD9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DJD9" } ] }, { "ec_number": "3.4.23.1", "activity": "", "evidence": [ { "id": "P0DJD9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DJD9" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 90, 133, 336 ], "o_linked_sites": [], "snv_sites": [ 133, 338, 343, 352 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 133, "end_pos": 135 }, { "start_pos": 336, "end_pos": 338 }, { "start_pos": 90, "end_pos": 92 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "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": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "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": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "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_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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "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": 2 }, { "field": "total_sites", "count": 2 } ], "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": 2 }, { "field": "total_sites", "count": 2 } ], "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": 60 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }