{ "uniprot_canonical_ac": "P10124-1", "uniprot_ac": "P10124", "uniprot_id": "SRGN_HUMAN", "mass": { "chemical_mass": 17652.0, "monoisotopic_mass": 17652.0 }, "refseq": { "ac": "NP_001307982", "name": "serglycin isoform 1 precursor", "summary": "This gene encodes a protein best known as a hematopoietic cell granule proteoglycan. Proteoglycans stored in the secretory granules of many hematopoietic cells also contain a protease-resistant peptide core, which may be important for neutralizing hydrolytic enzymes. This encoded protein was found to be associated with the macromolecular complex of granzymes and perforin, which may serve as a mediator of granule-mediated apoptosis. Two transcript variants, only one of them protein-coding, have been found for this gene. [provided by RefSeq, Jul 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307982" }, "gene_names": [ { "name": "SRGN", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P10124", "id": "P10124" }, { "name": "PPG; PRG; PRG1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307982", "id": "NP_001307982" }, { "name": "PRG1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10124", "id": "P10124" }, { "name": "PRG", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10124", "id": "P10124" }, { "name": "SRGN", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307982", "id": "NP_001307982" } ], "protein_names": [ { "name": "Serglycin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P10124" }, { "name": "Hematopoietic proteoglycan core protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10124" }, { "name": "P.PG", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10124" }, { "name": "Platelet proteoglycan core protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10124" }, { "name": "Secretory granule proteoglycan core protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10124" }, { "name": "serglycin isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307982", "id": "NP_001307982" }, { "name": "serglycin proteoglycan; proteoglycan 1, secretory granule; secretory granule proteoglycan core peptide; proteoglycan protein core for mast cell secretory granule; hematopoetic proteoglycan core peptide; p.PG; platelet proteoglycan core protein; hematopoetic proteoglycan core protein; secretory granule proteoglycan core protein; hematopoietic proteoglycan core protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307982", "id": "NP_001307982" } ], "function": [ { "annotation": "Clinical Significance of Serglycin Expression in Human Breast Cancer Patients.", "evidence": [ { "database": "RefSeq", "id": "NP_001307982", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307982" }, { "database": "PubMed", "id": "34969735", "url": "https://glygen.org/publication/PubMed/34969735" } ] }, { "annotation": "Plays a role in formation of mast cell secretory granules and mediates storage of various compounds in secretory vesicles. Required for storage of some proteases in both connective tissue and mucosal mast cells and for storage of granzyme B in T-lymphocytes. Plays a role in localizing neutrophil elastase in azurophil granules of neutrophils. Mediates processing of MMP2. Plays a role in cytotoxic cell granule-mediated apoptosis by forming a complex with granzyme B which is delivered to cells by perforin to induce apoptosis. Regulates the secretion of TNF-alpha and may also regulate protease secretion. Inhibits bone mineralization.", "evidence": [ { "database": "UniProtKB", "id": "P10124", "url": "https://www.uniprot.org/uniprot/P10124#function" }, { "database": "PubMed", "id": "16420477", "url": "https://glygen.org/publication/PubMed/16420477" }, { "database": "PubMed", "id": "16870619", "url": "https://glygen.org/publication/PubMed/16870619" }, { "database": "PubMed", "id": "11911826", "url": "https://glygen.org/publication/PubMed/11911826" } ] }, { "annotation": "SRGN-Triggered Aggressive and Immunosuppressive Phenotype in a Subset of TTF-1-Negative Lung Adenocarcinomas.", "evidence": [ { "database": "RefSeq", "id": "NP_001307982", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307982" }, { "database": "PubMed", "id": "34524427", "url": "https://glygen.org/publication/PubMed/34524427" } ] }, { "annotation": "Serglycin induces osteoclastogenesis and promotes tumor growth in giant cell tumor of bone. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001307982", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307982" }, { "database": "PubMed", "id": "34556636", "url": "https://glygen.org/publication/PubMed/34556636" } ] }, { "annotation": "Serglycin secreted by late-stage nucleus pulposus cells is a biomarker of intervertebral disc degeneration. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001307982", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307982" }, { "database": "PubMed", "id": "38167807", "url": "https://glygen.org/publication/PubMed/38167807" } ] }, { "annotation": "The autoregulatory serglycin/CD44 axis drives stemness-like phenotypes in TNBC in a beta-catenin-dependent manner.", "evidence": [ { "database": "RefSeq", "id": "NP_001307982", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307982" }, { "database": "PubMed", "id": "33634997", "url": "https://glygen.org/publication/PubMed/33634997" } ] }, { "annotation": "This gene encodes a protein best known as a hematopoietic cell granule proteoglycan. Proteoglycans stored in the secretory granules of many hematopoietic cells also contain a protease-resistant peptide core, which may be important for neutralizing hydrolytic enzymes. This encoded protein was found to be associated with the macromolecular complex of granzymes and perforin, which may serve as a mediator of granule-mediated apoptosis. Two transcript variants, only one of them protein-coding, have been found for this gene. [provided by RefSeq, Jul 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001307982", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307982" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs146830092", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146830092" }, { "id": "rs146830092", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs146830092" }, { "id": "rs146830092", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146830092" }, { "id": "rs146830092", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs146830092#frequency_tab" }, { "id": "rs146830092", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs146830092" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 100, "end_pos": 100, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "10", "chr_pos": "69103942", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.001997", "site_lbl": "S100", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs548849729", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs548849729" }, { "id": "rs548849729", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs548849729" }, { "id": "rs548849729", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs548849729" }, { "id": "rs548849729", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs548849729" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 100, "end_pos": 100, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->P).", "chr_id": "10", "chr_pos": "69103941", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "S100", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778934693", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778934693" }, { "id": "rs778934693", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778934693" }, { "id": "rs778934693", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778934693" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 102, "end_pos": 102, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "10", "chr_pos": "69103948", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S102", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1394593456", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1394593456" }, { "id": "rs1394593456", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1394593456" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 104, "end_pos": 104, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "10", "chr_pos": "69103954", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S104", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1452471777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1452471777" }, { "id": "rs1452471777", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1452471777" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 106, "end_pos": 106, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->L).", "chr_id": "10", "chr_pos": "69103960", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S106", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769582371", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769582371" }, { "id": "rs769582371", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769582371" }, { "id": "rs769582371", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769582371#frequency_tab" }, { "id": "rs769582371", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769582371" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 110, "end_pos": 110, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->R).", "chr_id": "10", "chr_pos": "69103973", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S110", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs139225962", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139225962" }, { "id": "rs139225962", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139225962" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 124, "end_pos": 124, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DES->NES).", "chr_id": "10", "chr_pos": "69104013", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D124", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P10124", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10124" } ], "glycoeffect": [], "start_pos": 58, "end_pos": 58, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "10", "chr_pos": "69097176", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E58", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": 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Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": 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"present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000122862", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122862" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "98.52", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000122862", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122862" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "96.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000122862", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122862" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "96.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000122862", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122862" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "96.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000122862", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122862" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "99.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000122862", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122862" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "96.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000122862", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122862" } ] }, { "tissue": { "name": "Prostate gland", 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hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P10124", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10124" } ], "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": 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{ "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P10124", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10124" } ], "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", 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system cancer that arises in the head or neck region. 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Chem.", "date": "1992", "authors": "Humphries D E, Nicodemus C F, Schiller V, Stevens R L", "evidence": [ { "database": "UniProtKB", "id": "P10124", "url": "https://www.uniprot.org/uniprot/P10124" } ], "reference": [ { "type": "PubMed", "id": "1377686", "url": "https://glygen.org/publication/PubMed/1377686" } ] }, { "title": "Isolation of dense granules from human platelets.", "journal": "Methods in enzymology", "date": "1992", "authors": "Fukami MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "1435334", "url": "https://glygen.org/publication/PubMed/1435334" } ] }, { "title": "Characterization of the proteins released from activated platelets leads to localization of novel platelet proteins in human atherosclerotic lesions.", "journal": "Blood", "date": "2004", "authors": "Coppinger JA, Cagney G, Toomey S, Kislinger T, Belton O, McRedmond JP, Cahill DJ, Emili A, Fitzgerald DJ, Maguire PB", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "14630798", "url": "https://glygen.org/publication/PubMed/14630798" } ] }, { "title": "Localization of serglycin in human neutrophil granulocytes and their precursors.", "journal": "J. Leukoc. Biol.", "date": "2004", "authors": "Niemann Carsten Utoft, Cowland Jack Bernard, Klausen Pia, Askaa Jon, Calafat Jero, Borregaard Niels", "evidence": [ { "database": "UniProtKB", "id": "P10124", "url": "https://www.uniprot.org/uniprot/P10124" } ], "reference": [ { "type": "PubMed", "id": "15136585", "url": "https://glygen.org/publication/PubMed/15136585" } ] }, { "title": "The nucleotide transporter MRP4 (ABCC4) is highly expressed in human platelets and present in dense granules, indicating a role in mediator storage.", "journal": "Blood", "date": "2004", "authors": "Jedlitschky G, Tirschmann K, Lubenow LE, Nieuwenhuis HK, Akkerman JW, Greinacher A, Kroemer HK", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "15297306", "url": "https://glygen.org/publication/PubMed/15297306" } ] }, { "title": "Secretion of proteases in serglycin transfected Madin-Darby canine kidney cells.", "journal": "The FEBS journal", "date": "2006-02", "authors": "Zernichow Lillian, Dalen Knut T, Prydz Kristian, Winberg Jan-Olof, Kolset Svein O", "evidence": [ { "database": "UniProtKB", "id": "P10124", "url": "https://www.uniprot.org/uniprot/P10124" } ], "reference": [ { "type": "PubMed", "id": "16420477", "url": "https://glygen.org/publication/PubMed/16420477" } ] }, { "title": "Serglycin constitutively secreted by myeloma plasma cells is a potent inhibitor of bone mineralization in vitro.", "journal": "The Journal of biological chemistry", "date": "2006-11-17", "authors": "Theocharis Achilleas D, Seidel Carina, Borset Magne, Dobra Katalin, Baykov Vadim, Labropoulou Vassiliki, Kanakis Ioannis, Dalas Evangelos, Karamanos Nikos K, Sundan Anders, Hjerpe Anders", "evidence": [ { "database": "UniProtKB", "id": "P10124", "url": "https://www.uniprot.org/uniprot/P10124" } ], "reference": [ { "type": "PubMed", "id": "16870619", "url": "https://glygen.org/publication/PubMed/16870619" } ] }, { "title": "Characterization of the human gene that encodes the peptide core of secretory granule proteoglycans in promyelocytic leukemia HL-60 cells and analysis of the translated product.", "journal": "J. Biol. Chem.", "date": "1990", "authors": "Nicodemus C F, Avraham S, Austen K F, Purdy S, Jablonski J, Stevens R L", "evidence": [ { "database": "UniProtKB", "id": "P10124", "url": "https://www.uniprot.org/uniprot/P10124" } ], "reference": [ { "type": "PubMed", "id": "2180935", "url": "https://glygen.org/publication/PubMed/2180935" } ] }, { "title": "High precision platelet releasate definition by quantitative reversed protein profiling--brief report.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "2013", "authors": "Wijten P, van Holten T, Woo LL, Bleijerveld OB, Roest M, Heck AJ, Scholten A", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "23640497", "url": "https://glygen.org/publication/PubMed/23640497" } ] }, { "title": "Nucleotide sequence of a cDNA encoding a hemopoietic proteoglycan core protein.", "journal": "Nucleic Acids Res.", "date": "1989", "authors": "Stellrecht C M, Saunders G F", "evidence": [ { "database": "UniProtKB", "id": "P10124", "url": "https://www.uniprot.org/uniprot/P10124" } ], "reference": [ { "type": "PubMed", "id": "2798108", "url": "https://glygen.org/publication/PubMed/2798108" } ] }, { "title": "Isolation and characterization of a cDNA that encodes the peptide core of the secretory granule proteoglycan of human promyelocytic leukemia HL-60 cells.", "journal": "J. Biol. Chem.", "date": "1988", "authors": "Stevens R L, Avraham S, Gartner M C, Bruns G A, Austen K F, Weis J H", "evidence": [ { "database": "UniProtKB", "id": "P10124", "url": "https://www.uniprot.org/uniprot/P10124" } ], "reference": [ { "type": "PubMed", "id": "2835370", "url": "https://glygen.org/publication/PubMed/2835370" } ] }, { "title": "Characterization and N-terminal sequence of human platelet proteoglycan.", "journal": "Biochem. J.", "date": "1988", "authors": "P\u00e9rin J P, Bonnet F, Maillet P, Joll\u00e8s P", "evidence": [ { "database": "UniProtKB", "id": "P10124", "url": "https://www.uniprot.org/uniprot/P10124" } ], "reference": [ { "type": "PubMed", "id": "3214420", "url": "https://glygen.org/publication/PubMed/3214420" } ] }, { "title": "The autoregulatory serglycin/CD44 axis drives stemness-like phenotypes in TNBC in a beta-catenin-dependent manner.", "journal": "Clinical and translational medicine", "date": "2021", "authors": "Cao L, Luo FF, Huang HB, Huang TJ, Hu H, Zheng LS, Wang J, Peng LX, Qian CN, Huang BJ", "evidence": [ { "database": "RefSeq", "id": "NP_001307982", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307982" } ], "reference": [ { "type": "PubMed", "id": "33634997", "url": "https://glygen.org/publication/PubMed/33634997" } ] }, { "title": "Complete amino acid sequence of a human platelet proteoglycan.", "journal": "FEBS letters", "date": "1988", "authors": "Alliel PM, Perin JP, Maillet P, Bonnet F, Rosa JP, Jolles P", "evidence": [ { "database": "UniProtKB", "id": "P10124", "url": "https://www.uniprot.org/uniprot/P10124#ptm_processing" }, { "database": "UniProtKB", "id": "P10124", "url": "https://www.uniprot.org/uniprot/P10124" } ], "reference": [ { "type": "PubMed", "id": "3402609", "url": "https://glygen.org/publication/PubMed/3402609" } ] }, { "title": "SRGN-Triggered Aggressive and Immunosuppressive Phenotype in a Subset of TTF-1-Negative Lung Adenocarcinomas.", "journal": "Journal of the National Cancer Institute", "date": "2022", "authors": "Tanaka I, Dayde D, Tai MC, Mori H, Solis LM, Tripathi SC, Fahrmann JF, Unver N, Parhy G, Jain R, Parra ER, Murakami Y, Aguilar-Bonavides C, Mino B, Celiktas M, Dhillon D, Casabar JP, Nakatochi M, Stingo F, Baladandayuthapani V, Wang H, Katayama H, Dennison JB, Lorenzi PL, Do KA, Fujimoto J, Behrens C, Ostrin EJ, Rodriguez-Canales J, Hase T, Fukui T, Kajino T, Kato S, Yatabe Y, Hosoda W, Kawaguchi K, Yokoi K, Chen-Yoshikawa TF, Hasegawa Y, Gazdar AF, Wistuba II, Hanash S, Taguchi A", "evidence": [ { "database": "RefSeq", "id": "NP_001307982", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307982" } ], "reference": [ { "type": "PubMed", "id": "34524427", "url": "https://glygen.org/publication/PubMed/34524427" } ] }, { "title": "Serglycin induces osteoclastogenesis and promotes tumor growth in giant cell tumor of bone.", "journal": "Cell death & disease", "date": "2021", "authors": "He Y, Cheng D, Lian C, Liu Y, Luo W, Wang Y, Ma C, Wu Q, Tian P, He D, Jia Z, Lv X, Zhang X, Pan Z, Lu J, Xiao Y, Zhang P, Liang Y, Yang Q, Hu G", "evidence": [ { "database": "RefSeq", "id": "NP_001307982", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307982" } ], "reference": [ { "type": "PubMed", "id": "34556636", "url": "https://glygen.org/publication/PubMed/34556636" } ] }, { "title": "Clinical Significance of Serglycin Expression in Human Breast Cancer Patients.", "journal": "Anticancer research", "date": "2022", "authors": "Hosoya K, Nosaka K, Sakabe T, Wakahara M, Oshima Y, Suzuki Y, Nakamura H, Umekita Y", "evidence": [ { "database": "RefSeq", "id": "NP_001307982", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307982" } ], "reference": [ { "type": "PubMed", "id": "34969735", "url": "https://glygen.org/publication/PubMed/34969735" } ] }, { "title": "Serglycin secreted by late-stage nucleus pulposus cells is a biomarker of intervertebral disc degeneration.", "journal": "Nature communications", "date": "2024-01-02", "authors": "Chen Fan, Lei Linchuan, Chen Shunlun, Zhao Zhuoyang, Huang Yuming, Jiang Guowei, Guo Xingyu, Li Zemin, Zheng Zhaomin, Wang Jianru", "evidence": [ { "database": "RefSeq", "id": "NP_001307982", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307982" } ], "reference": [ { "type": "PubMed", "id": "38167807", "url": "https://glygen.org/publication/PubMed/38167807" } ] }, { "title": "Characterization of the proteins of isolated human platelet alpha-granules. 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