{ "uniprot_canonical_ac": "P14384-1", "uniprot_ac": "P14384", "uniprot_id": "CBPM_HUMAN", "mass": { "chemical_mass": 50514.0, "monoisotopic_mass": 50514.0 }, "refseq": { "ac": "NP_001005502", "name": "carboxypeptidase M isoform b precursor", "summary": "The protein encoded by this gene is a membrane-bound arginine/lysine carboxypeptidase. Its expression is associated with monocyte to macrophage differentiation. This encoded protein contains hydrophobic regions at the amino and carboxy termini and has 6 potential asparagine-linked glycosylation sites. The active site residues of carboxypeptidases A and B are conserved in this protein. Three alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005502" }, "gene_names": [ { "name": "CPM", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P14384", "id": "P14384" }, { "name": "CPM", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005502", "id": "NP_001005502" } ], "protein_names": [ { "name": "Carboxypeptidase M", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P14384" }, { "name": "3.4.17.12", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14384" }, { "name": "CPM", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14384" }, { "name": "carboxypeptidase M isoform b precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005502", "id": "NP_001005502" }, { "name": "renal carboxypeptidase; urinary carboxypeptidase B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005502", "id": "NP_001005502" } ], "function": [ { "annotation": "CPM binding to extracellular loop 2 of the B1R results in positive allosteric modulation of B1R signaling, and disruption of this interaction could provide a novel therapeutic approach to reduce pathological B1R signaling.", "evidence": [ { "database": "RefSeq", "id": "NP_001005502", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005502" }, { "database": "PubMed", "id": "24108126", "url": "https://glygen.org/publication/PubMed/24108126" } ] }, { "annotation": "Low CPM expression is associated with colorectal cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001005502", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005502" }, { "database": "PubMed", "id": "28186967", "url": "https://glygen.org/publication/PubMed/28186967" } ] }, { "annotation": "Our work shows for the first time that the interaction between CPM and kinin B1 receptor alters not only B1R pharmacology, but also modulates enzyme expression and activity.", "evidence": [ { "database": "RefSeq", "id": "NP_001005502", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005502" }, { "database": "PubMed", "id": "31218444", "url": "https://glygen.org/publication/PubMed/31218444" } ] }, { "annotation": "Specifically removes C-terminal basic residues (Arg or Lys) from peptides and proteins. It is believed to play important roles in the control of peptide hormone and growth factor activity at the cell surface, and in the membrane-localized degradation of extracellular proteins.", "evidence": [ { "database": "UniProtKB", "id": "P14384", "url": "https://www.uniprot.org/uniprot/P14384#function" }, { "database": "PubMed", "id": "12457462", "url": "https://glygen.org/publication/PubMed/12457462" } ] }, { "annotation": "The protein encoded by this gene is a membrane-bound arginine/lysine carboxypeptidase. Its expression is associated with monocyte to macrophage differentiation. This encoded protein contains hydrophobic regions at the amino and carboxy termini and has 6 potential asparagine-linked glycosylation sites. The active site residues of carboxypeptidases A and B are conserved in this protein. Three alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001005502", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005502" } ] }, { "annotation": "The rs12812500 variant of the CPM gene may increase silicosis susceptibility by affecting the expression of CPM, which may contribute to silicosis susceptibility with biological plausibility.", "evidence": [ { "database": "RefSeq", "id": "NP_001005502", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005502" }, { "database": "PubMed", "id": "30674606", "url": "https://glygen.org/publication/PubMed/30674606" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs371647855", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371647855" }, { "id": "rs371647855", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371647855" }, { "id": "rs371647855", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371647855" }, { "id": "rs371647855", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371647855#frequency_tab" }, { "id": "rs371647855", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371647855" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 115, "end_pos": 115, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->SST).", "chr_id": "12", "chr_pos": "68871871", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N115", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1592645897", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1592645897" }, { "id": "rs1592645897", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1592645897" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 117, "end_pos": 117, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NSP).", "chr_id": "12", "chr_pos": "68871866", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T117", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P14384", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P14384" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 157, "end_pos": 157, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NFP->NFS).", "chr_id": "12", "chr_pos": "68870362", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P157", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1592642891", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1592642891" }, { "id": "rs1592642891", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1592642891" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 256, "end_pos": 256, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGY->NGS).", "chr_id": "12", "chr_pos": "68869345", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y256", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1333259215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1333259215" }, { "id": "rs1333259215", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1333259215" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 302, "end_pos": 302, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKA->NKT).", "chr_id": "12", "chr_pos": "68866932", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A302", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1365235176", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1365235176" }, { "id": "rs1365235176", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1365235176#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 331, "end_pos": 331, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVI->NVT).", "chr_id": "12", "chr_pos": "68859020", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I331", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766289045", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766289045" }, { "id": "rs766289045", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs766289045" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 384, "end_pos": 384, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->KFS).", "chr_id": "12", "chr_pos": "68856617", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N384", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1185236277", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1185236277" }, { "id": "rs1185236277", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1185236277" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 386, "end_pos": 386, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->NFN).", "chr_id": "12", "chr_pos": "68856612", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S386", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1366655950", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1366655950" }, { "id": "rs1366655950", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1366655950#frequency_tab" }, { "id": "rs1366655950", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1366655950" }, { "id": "rs761360372", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761360372" }, { "id": "rs761360372", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761360372" }, { "id": "rs761360372", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761360372" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 386, "end_pos": 386, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->NFR).", "chr_id": "12", "chr_pos": "68856613", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S386", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771269967", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771269967" }, { "id": "rs771269967", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771269967" }, { "id": "rs771269967", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771269967#frequency_tab" }, { "id": "rs771269967", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771269967" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 408, "end_pos": 408, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NTS).", "chr_id": "12", "chr_pos": "68856547", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P408", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs868766423", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868766423" }, { "id": "rs868766423", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs868766423" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 420, "end_pos": 420, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLP->NLS).", "chr_id": "12", "chr_pos": "68856511", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P420", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 277, "end_pos": 277, "sequence_org": "E", "sequence_mut": "A", "comment": "5-fold decrease in substrate affinity. 22-fold decrease in specific affinity. 104-fold decrease in catalytic efficiency. Greatly reduced heat stability.", "evidence": [ { "database": "UniProtKB", "id": "P14384", "url": "https://www.uniprot.org/uniprot/P14384" }, { "database": "PubMed", "id": "12457462", "url": "https://glygen.org/publication/PubMed/12457462" } ] }, { "start_pos": 277, "end_pos": 277, "sequence_org": "E", "sequence_mut": "Q", "comment": "2-fold decrease in substrate affinity. Small increase in specific affinity. Reduced heat stability by 50%.", "evidence": [ { "database": "UniProtKB", "id": "P14384", "url": "https://www.uniprot.org/uniprot/P14384" }, { "database": "PubMed", "id": "12457462", "url": "https://glygen.org/publication/PubMed/12457462" } ] }, { "start_pos": 281, "end_pos": 281, "sequence_org": "E", "sequence_mut": "Q", "comment": "Abolishes enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "P14384", "url": "https://www.uniprot.org/uniprot/P14384" }, { "database": "PubMed", "id": "12457462", "url": "https://glygen.org/publication/PubMed/12457462" } ] }, { "start_pos": 423, "end_pos": 423, "sequence_org": "S", "sequence_mut": "A", "comment": "Expressed on cell membrane. Released from membrane by PI-PLC.", "evidence": [ { "database": "UniProtKB", "id": "P14384", "url": "https://www.uniprot.org/uniprot/P14384" }, { "database": "PubMed", "id": "12457462", "url": "https://glygen.org/publication/PubMed/12457462" } ] }, { "start_pos": 423, "end_pos": 423, "sequence_org": "S", "sequence_mut": "P", "comment": "Little expression on cell membrane. Perinuclear localization. Not released from membrane by PI-PLC.", "evidence": [ { "database": "UniProtKB", "id": "P14384", "url": "https://www.uniprot.org/uniprot/P14384" }, { "database": "PubMed", "id": "12457462", "url": "https://glygen.org/publication/PubMed/12457462" } ] }, { "start_pos": 423, "end_pos": 423, "sequence_org": "S", "sequence_mut": "T", "comment": "Expressed on cell membrane. Released from membrane by PI-PLC.", "evidence": [ { "database": "UniProtKB", "id": "P14384", "url": "https://www.uniprot.org/uniprot/P14384" }, { "database": "PubMed", "id": "12457462", "url": "https://glygen.org/publication/PubMed/12457462" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "85.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135678", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135678" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "78.57", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000135678", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135678" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "74.02", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000135678", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135678" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000135678", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135678" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "93.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135678", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135678" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "93.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135678", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135678" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "63.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000135678", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135678" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "81.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135678", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135678" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "77.39", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000135678", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135678" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "92.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135678", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135678" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "91.26", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135678", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135678" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "84.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135678", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135678" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "85.08", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135678", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135678" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P14384", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14384" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", 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"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", 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}, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"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, 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"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 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}, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P14384", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14384" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14384" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P14384", "url": "https://www.uniprot.org/uniprot/P14384" } ], "common_name": "Human" } ], "gene": [ { "name": "CPM", "url": "https://www.uniprot.org/uniprot/P14384", "locus": { "chromosome": "12", "start_pos": 68842197, "end_pos": 68971570, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000135678", "url": "https://www.ensembl.org/id/ENSG00000135678" } ] } } ], "crossref": [ { "id": "ENSG00000135678", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135678", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P14384", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P14384", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "3.4.17.12", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=3.4.17.12&UniProtAcc=P14384", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd03866", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd03866", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd11308", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd11308", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL3038", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL3038", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "CPM", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPM", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "1368", "url": "https://www.ncbi.nlm.nih.gov/gene/1368", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "2311", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2311", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P14384", "url": "https://www.ebi.ac.uk/intact/interactors/id:P14384*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000834", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000834", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008969", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008969", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR033842", "url": "https://www.ebi.ac.uk/interpro/entry/IPR033842", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:1368", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1368", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "114860", "url": "http://www.omim.org/entry/114860", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P14384", "url": "https://www.nextprot.org/entry/NX_P14384", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P14384", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P14384", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "FSYHHQE", "url": "https://omabrowser.org/oma/group/FSYHHQE/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5490979at2759", "url": "http://www.orthodb.org/?query=5490979at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11532", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11532", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11532:SF84", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11532:SF84", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1UWY", "url": "https://www.rcsb.org/structure/1UWY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00246", "url": "http://pfam.xfam.org/family/PF00246", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13620", "url": "http://pfam.xfam.org/family/PF13620", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P14384", "url": "https://pharos.nih.gov/targets/P14384", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P14384", "url": "http://purl.obolibrary.org/obo/PR_P14384", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-163125", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163125", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001005502", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005502", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "F8VR29", "url": "https://www.uniprot.org/uniprot/F8VR29", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VR29-1", "url": "https://www.uniprot.org/uniprot/F8VR29-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VU13", "url": "https://www.uniprot.org/uniprot/F8VU13", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VU13-1", "url": "https://www.uniprot.org/uniprot/F8VU13-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VVI6", "url": "https://www.uniprot.org/uniprot/F8VVI6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VVI6-1", "url": "https://www.uniprot.org/uniprot/F8VVI6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W111", "url": "https://www.uniprot.org/uniprot/F8W111", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W111-1", "url": "https://www.uniprot.org/uniprot/F8W111-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YHG6", "url": "https://www.uniprot.org/uniprot/H0YHG6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YHG6-1", "url": "https://www.uniprot.org/uniprot/H0YHG6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YHN7", "url": "https://www.uniprot.org/uniprot/H0YHN7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YHN7-1", "url": "https://www.uniprot.org/uniprot/H0YHN7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P14384", "url": "https://www.uniprot.org/uniprot/P14384", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P14384-1", "url": "https://www.uniprot.org/uniprot/P14384-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDFPCLWLGLLLPLVAALDFNYHRQEGMEAFLKTVAQNYSSVTHLHSIGKSVKGRNLWVLVVGRFPKEHRIGIPEFKYVANMHGDETVGRELLLHLIDYLVTSDGKDPEITNLINSTRIHIMPSMNPDGFEAVKKPDCYYSIGRENYNQYDLNRNFPDAFEYNNVSRQPETVAVMKWLKTETFVLSANLHGGALVASYPFDNGVQATGALYSRSLTPDDDVFQYLAHTYASRNPNMKKGDECKNKMNFPNGVTNGYSWYPLQGGMQDYNYIWAQCFEITLELSCCKYPREEKLPSFWNNNKASLIEYIKQVHLGVKGQVFDQNGNPLPNVIVEVQDRKHICPYRTNKYGEYYLLLLPGSYIINVTVPGHDPHITKVIIPEKSQNFSALKKDILLPFQGQLDSIPVSNPSCPMIPLYRNLPDHSAATKPSLFLFLVSLLHIFFK", "length": 443, "header": "sp|P14384-1|CBPM_HUMAN Isoform 1 of Carboxypeptidase M OS=Homo sapiens OX=9606 GN=CPM PE=1 SV=2 CANONICAL=P14384-1" }, "isoforms": [ { "isoform_ac": "F8VR29-1", "url": "", "sequence": { "sequence": "MDFPCLWLGLLLPLVAALDFNYHRQEGMEAFLKTVAQNYSSVTHLHSIGKSVKDCWAGAAAPSD", "length": 64, "header": "tr|F8VR29-1|CBPM_HUMAN Computationally mapped isoform of Carboxypeptidase M OS=Homo sapiens OX=9606 GN=CPM PE=1 SV=1 CANONICAL=P14384-1" }, "locus": { "chromosome": "12", "start_pos": 68932837, "end_pos": 68871925, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000551728.5", "url": "https://www.ensembl.org/id/ENST00000551728.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000446573.1", "url": "https://www.ensembl.org/id/ENSP00000446573.1" } ] } }, { "isoform_ac": "F8VU13-1", "url": "", "sequence": { "sequence": "MDFPCLWLGLLLPLVAALDFNYHRQEGMEAFLKTVAQNYSSVTHLHSIGKSVKETCGFLLWGGFQRNTELGF", "length": 72, "header": "tr|F8VU13-1|CBPM_HUMAN Computationally mapped isoform of Carboxypeptidase M OS=Homo sapiens OX=9606 GN=CPM PE=1 SV=1 CANONICAL=P14384-1" }, "locus": { "chromosome": "12", "start_pos": 68932837, "end_pos": 68885830, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000549781.1", "url": "https://www.ensembl.org/id/ENST00000549781.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000448078.1", "url": "https://www.ensembl.org/id/ENSP00000448078.1" } ] } }, { "isoform_ac": "F8VVI6-1", "url": "", "sequence": { "sequence": "MDFPCLWLGLLLPLVAALDFNYHRQEGMEAFLKTVAQNYSSVTHLHSIGKSVKGRNLWVLVVGRFPKEHRIGIPEFKYVANMHGDETVGRELLLHLIDYLVTSDGKDPEITNLINSTRIHIMPSMNPDGFEAVKKP", "length": 136, "header": "tr|F8VVI6-1|F8VVI6_HUMAN Computationally mapped isoform of Carboxypeptidase M OS=Homo sapiens OX=9606 GN=CPM PE=1 SV=1 CANONICAL=P14384-1" }, "locus": { "chromosome": "12", "start_pos": 68932837, "end_pos": 68871807, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000548262.5", "url": "https://www.ensembl.org/id/ENST00000548262.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000449911.1", "url": "https://www.ensembl.org/id/ENSP00000449911.1" } ] } }, { "isoform_ac": "F8W111-1", "url": "", "sequence": { "sequence": "MDFPCLWLGLLLPLVAALDFNYHRQEGMEAFLKTVAQNYSSVTHLHSIGKSVKGRNLWVLVVGRFPKEHRIGIPEFKYVANMHGDETVGRELLLHLIDYLVTSDGKDPEITNLINSTRIHIMPSMNPDGFEAVKKPDCYYSIGRENYNQYDLNRNFPDAFEYNNVSRQPETVAVMKWLKTETFVLSANLHGGALVASYPFDNGVQATGALYSRSLTPDDDVFQYLAHTYASRNPNMKKGDECKNKMNFP", "length": 249, "header": "tr|F8W111-1|F8W111_HUMAN Computationally mapped isoform of Carboxypeptidase M OS=Homo sapiens OX=9606 GN=CPM PE=1 SV=1 CANONICAL=P14384-1" }, "locus": { "chromosome": "12", "start_pos": 68932837, "end_pos": 68869365, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000548954.5", "url": "https://www.ensembl.org/id/ENST00000548954.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000446799.1", "url": "https://www.ensembl.org/id/ENSP00000446799.1" } ] } }, { "isoform_ac": "H0YHG6-1", "url": "", "sequence": { "sequence": "SCPMIPLYRNLPDHSAATKPSLFLFLVSLLHIFFK", "length": 35, "header": "tr|H0YHG6-1|H0YHG6_HUMAN Computationally mapped isoform of Carboxypeptidase M OS=Homo sapiens OX=9606 GN=CPM PE=4 SV=1 CANONICAL=P14384-1" }, "locus": { "chromosome": "12", "start_pos": 68856544, "end_pos": 68856440, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000546556.1", "url": "https://www.ensembl.org/id/ENST00000546556.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000447051.1", "url": "https://www.ensembl.org/id/ENSP00000447051.1" } ] } }, { "isoform_ac": "H0YHN7-1", "url": "", "sequence": { "sequence": "XPFDNGVQATGALYSRSLTPDDDVFQYLAHTYASRNPNMKKGDECKNKMNFPNGVTNGYSWYPLQGGMQDYNYIWAQCFEITLELSCCKYPREEKLPSFWNNNKASLIEYIKQVHLGVKGQVFDQNGNPLPNVIVEVQDRKHICPYRTNKYGEYYLLLLPGSYIINVTVPGHDPHITKLRSFACNRGQDEFCLTSLMS", "length": 198, "header": "tr|H0YHN7-1|H0YHN7_HUMAN Computationally mapped isoform of Carboxypeptidase M OS=Homo sapiens OX=9606 GN=CPM PE=1 SV=1 CANONICAL=P14384-1" }, "locus": { "chromosome": "12", "start_pos": 68870238, "end_pos": 68842269, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000551897.5", "url": "https://www.ensembl.org/id/ENST00000551897.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000447455.1", "url": "https://www.ensembl.org/id/ENSP00000447455.1" } ] } }, { "isoform_ac": "P14384-1", "url": "", "sequence": { "sequence": "MDFPCLWLGLLLPLVAALDFNYHRQEGMEAFLKTVAQNYSSVTHLHSIGKSVKGRNLWVLVVGRFPKEHRIGIPEFKYVANMHGDETVGRELLLHLIDYLVTSDGKDPEITNLINSTRIHIMPSMNPDGFEAVKKPDCYYSIGRENYNQYDLNRNFPDAFEYNNVSRQPETVAVMKWLKTETFVLSANLHGGALVASYPFDNGVQATGALYSRSLTPDDDVFQYLAHTYASRNPNMKKGDECKNKMNFPNGVTNGYSWYPLQGGMQDYNYIWAQCFEITLELSCCKYPREEKLPSFWNNNKASLIEYIKQVHLGVKGQVFDQNGNPLPNVIVEVQDRKHICPYRTNKYGEYYLLLLPGSYIINVTVPGHDPHITKVIIPEKSQNFSALKKDILLPFQGQLDSIPVSNPSCPMIPLYRNLPDHSAATKPSLFLFLVSLLHIFFK", "length": 443, "header": "sp|P14384-1|CBPM_HUMAN Isoform 1 of Carboxypeptidase M OS=Homo sapiens OX=9606 GN=CPM PE=1 SV=2 CANONICAL=P14384-1" }, "locus": { "chromosome": "12", "start_pos": 68932837, "end_pos": 68856440, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000546373.5", "url": "https://www.ensembl.org/id/ENST00000546373.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000447255.1", "url": "https://www.ensembl.org/id/ENSP00000447255.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 115, "start_aa": "Asn", "end_pos": 115, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn115", "evidence": [ { "id": "P14384", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14384#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "15066430", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/15066430" }, { "id": "1UWY", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/1UWY" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 163, "start_aa": "Asn", "end_pos": 163, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn163", "evidence": [ { "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": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 164, "start_aa": "Asn", "end_pos": 164, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn164", "evidence": [ { "id": "P14384", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14384#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "site_category": "reported", "site_seq": "D", "relation": "attached", "comment": "", "start_pos": 240, "start_aa": "Asp", "end_pos": 240, "end_aa": "Asp", "residue": "Asp", "site_lbl": "Asp240", "evidence": [ { "id": "1UWY", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/1UWY" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 363, "start_aa": "Asn", "end_pos": 363, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn363", "evidence": [ { "id": "P14384", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14384#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 384, "start_aa": "Asn", "end_pos": 384, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn384", "evidence": [ { "id": "P14384", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14384#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" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 38, "start_aa": "Asn", "end_pos": 38, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn38", "evidence": [ { "id": "P14384", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14384#ptm_processing" }, { "id": "15066430", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/15066430" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P14384", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P14384" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Structure and expression of the human glycosylphosphatidylinositol phospholipase D1 (GPLD1) gene.", "journal": "Biochimica et biophysica acta", "date": "2000", "authors": "Schofield JN, Rademacher TW", "evidence": [ { "database": "Reactome", "id": "R-HSA-163125", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163125" } ], "reference": [ { "type": "PubMed", "id": "11072085", "url": "https://glygen.org/publication/PubMed/11072085" } ] }, { "title": "Type 2 diabetes locus on 12q15: further mapping and mutation screening of two candidate genes.", "journal": "Diabetes", "date": "2001", "authors": "Bektas A, Hughes J N, Warram J H, Krolewski A S, Doria A", "evidence": [ { "database": "UniProtKB", "id": "P14384", "url": "https://www.uniprot.org/uniprot/P14384" } ], "reference": [ { "type": "PubMed", "id": "11147789", "url": "https://glygen.org/publication/PubMed/11147789" } ] }, { "title": "Molecular structure and alternative splicing of the human carboxypeptidase M gene.", "journal": "Biol. Chem.", "date": "2002", "authors": "Pessoa Luciana G, da Silva Ismael D Guerreiro, Baptista Heloisa A, Pesquero Jorge L, Paiva Antonio C M, Bader Michael, Pesquero Jo\u00e3o B", "evidence": [ { "database": "UniProtKB", "id": "P14384", "url": "https://www.uniprot.org/uniprot/P14384" } ], "reference": [ { "type": "PubMed", "id": "11934264", "url": "https://glygen.org/publication/PubMed/11934264" } ] }, { "title": "Effect of mutation of two critical glutamic acid residues on the activity and stability of human carboxypeptidase M and characterization of its signal for glycosylphosphatidylinositol anchoring.", "journal": "The Biochemical journal", "date": "2003", "authors": "Tan F, Balsitis S, Black JK, Blochl A, Mao JF, Becker RP, Schacht D, Skidgel RA", "evidence": [ { "database": "UniProtKB", "id": "P14384", "url": "https://www.uniprot.org/uniprot/P14384" } ], "reference": [ { "type": "PubMed", "id": "12457462", "url": "https://glygen.org/publication/PubMed/12457462" } ] }, { "title": "Crystal structure of human carboxypeptidase M, a membrane-bound enzyme that regulates peptide hormone activity.", "journal": "Journal of molecular biology", "date": "2004", "authors": "Reverter D, Maskos K, Tan F, Skidgel RA, Bode W", "evidence": [ { "database": "UniProtKB", "id": "P14384", "url": "https://www.uniprot.org/uniprot/P14384#ptm_processing" }, { "database": "UniProtKB", "id": "P14384", "url": "https://www.uniprot.org/uniprot/P14384" } ], "reference": [ { "type": "PubMed", "id": "15066430", "url": "https://glygen.org/publication/PubMed/15066430" } ] }, { "title": "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.", "journal": "Journal of proteome research", "date": "2009", "authors": "Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P14384", "url": "https://www.uniprot.org/uniprot/P14384#ptm_processing" }, { "database": "UniProtKB", "id": "P14384", "url": "https://www.uniprot.org/uniprot/P14384" } ], "reference": [ { "type": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" } ] }, { "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "title": "Carboxypeptidase M is a positive allosteric modulator of the kinin B1 receptor.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Zhang X, Tan F, Skidgel RA", "evidence": [ { "database": "RefSeq", "id": "NP_001005502", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005502" } ], "reference": [ { "type": "PubMed", "id": "24108126", "url": "https://glygen.org/publication/PubMed/24108126" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "A glycan-phosphatidylinositol-specific phospholipase D in human serum.", "journal": "Science (New York, N.Y.)", "date": "1987", "authors": "Davitz MA, Hereld D, Shak S, Krakow J, Englund PT, Nussenzweig V", "evidence": [ { "database": "Reactome", "id": "R-HSA-163125", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163125" } ], "reference": [ { "type": "PubMed", "id": "2443973", "url": "https://glygen.org/publication/PubMed/2443973" } ] }, { "title": "Molecular cloning and sequencing of the cDNA for human membrane-bound carboxypeptidase M. Comparison with carboxypeptidases A, B, H, and N.", "journal": "J. Biol. Chem.", "date": "1989", "authors": "Tan F, Chan S J, Steiner D F, Schilling J W, Skidgel R A", "evidence": [ { "database": "UniProtKB", "id": "P14384", "url": "https://www.uniprot.org/uniprot/P14384" } ], "reference": [ { "type": "PubMed", "id": "2753907", "url": "https://glygen.org/publication/PubMed/2753907" } ] }, { "title": "MicroRNA-146a promote cell migration and invasion in human colorectal cancer via carboxypeptidase M/src-FAK pathway.", "journal": "Oncotarget", "date": "2017", "authors": "Lu D, Yao Q, Zhan C, Le-Meng Z, Liu H, Cai Y, Tu C, Li X, Zou Y, Zhang S", "evidence": [ { "database": "RefSeq", "id": "NP_001005502", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005502" } ], "reference": [ { "type": "PubMed", "id": "28186967", "url": "https://glygen.org/publication/PubMed/28186967" } ] }, { "title": "Functional variant of the carboxypeptidase M (CPM) gene may affect silica-related pneumoconiosis susceptibility by its expression: a multistage case-control study.", "journal": "Occupational and environmental medicine", "date": "2019", "authors": "Chu M, Wu S, Wang W, Yu Y, Zhang M, Sang L, Tian T, Lu Y, Yuan W, Huang Q, Yi M, Gao Y, Xiao J, Lian Y, Zhuang X, Zhang ZF, Wu J", "evidence": [ { "database": "RefSeq", "id": "NP_001005502", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005502" } ], "reference": [ { "type": "PubMed", "id": "30674606", "url": "https://glygen.org/publication/PubMed/30674606" } ] }, { "title": "Interactions between carboxypeptidase M and kinin B1 receptor in endothelial cells.", "journal": "Inflammation research : official journal of the European Histamine Research Society ... [et al.]", "date": "2019", "authors": "Guimaraes PB, da Silva RF, Hoff CC, Fernandes L, Nakaie CR, Chagas JR, Carmona AK, Bader M, Pesquero JB", "evidence": [ { "database": "RefSeq", "id": "NP_001005502", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005502" } ], "reference": [ { "type": "PubMed", "id": "31218444", "url": "https://glygen.org/publication/PubMed/31218444" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P14384", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P14384" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "A phospholipase D specific for the phosphatidylinositol anchor of cell-surface proteins is abundant in plasma.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1988", "authors": "Low MG, Prasad AR", "evidence": [ { "database": "Reactome", "id": "R-HSA-163125", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163125" } ], "reference": [ { "type": "PubMed", "id": "3422494", "url": "https://glygen.org/publication/PubMed/3422494" } ] } ], "pathway": [ { "id": "hsa:1368", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1368", "resource": "KEGG Pathway" }, { "id": "R-HSA-163125", "name": "Post-translational modification: synthesis of GPI-anchored proteins", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163125", "resource": "Reactome", "description": "Post-translational modification: synthesis of GPI-anchored proteins" } ], "orthologs": [ { "uniprot_canonical_ac": "B7Z0Z5-1", "protein_name": "3.4.16.-", "gene_name": "Dmel\\CG4678", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MILRTPLVAGHQLQLLLLPSVLLLMLHLLLCDAKTVNPGDSMQMQHHQMTAEPGLPEPRAYMPDAQHLDFVYHDHEELTRFLRATSARYPNLTALYSIGKSIQGRDLWVMVVSSSPYEHMVGKPDVKYVGNIHGNEPVGREMLLHLIQYFVTSYNTDQYVKWLLDNTRIHILPTMNPDGYAVSKEGTCDGGQGRYNARGFDLNRNFPDYFKQNNKRGQPETDSVKDWISKIQFVLSGSLHGGALVASYPYDNTPNSRLLKGICRSSALCAMFQTYSAAPSLTPDDDVFKHLSLVYARNHAKMSRGVACKSATPAFENGITNGAAWYPLTGGMQDYNYVWYGCMEITLEISCCKFPPAYELKKYWEDNQLSLIKFLAEAHRGVQGFVFDPAGMPIERASIKIKGRDVGFQTTKYGEFWRILLPGYYKVEVFAEGFAPREVEFVIVEQHPTLLNVTLQPSKRLEGIGPMGPGGVPVGGVVGPGGLYRPIPSPQHYRPPVPPYAGAASSDSGIFSTISNGLNSLYSNIFG", "length": 527 }, "evidence": [ { "id": "P14384", "url": "https://omabrowser.org/oma/group/P14384/", "database": "OMA" } ], "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "D4A9Q5-1", "protein_name": "Carboxypeptidase M", "gene_name": "Cpm", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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"id": "GO:0004181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004181", "evidence": [ { "database": "UniProtKB", "id": "P14384", "url": "https://www.uniprot.org/uniprot/P14384" } ], "pmid": "" }, { "name": "carboxypeptidase activity", "id": "GO:0004180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004180", "evidence": [ { "database": "UniProtKB", "id": "P14384", "url": "https://www.uniprot.org/uniprot/P14384" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P14384", "url": "https://www.uniprot.org/uniprot/P14384" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P14384", "url": "https://www.uniprot.org/uniprot/P14384" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P14384", "url": "https://www.uniprot.org/uniprot/P14384" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P14384", "url": "https://www.uniprot.org/uniprot/P14384" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P14384", "url": "https://www.uniprot.org/uniprot/P14384" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P14384", "url": "https://www.uniprot.org/uniprot/P14384" } ], "pmid": "" }, { "name": "side of membrane", "id": "GO:0098552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098552", "evidence": [ { "database": "UniProtKB", "id": "P14384", "url": "https://www.uniprot.org/uniprot/P14384" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 115, "end_pos": 117, "annotation": "n_glycosylation_sequon" }, { "start_pos": 164, "end_pos": 166, "annotation": "n_glycosylation_sequon" }, { "start_pos": 363, "end_pos": 365, "annotation": "n_glycosylation_sequon" }, { "start_pos": 384, "end_pos": 386, "annotation": "n_glycosylation_sequon" }, { "start_pos": 38, "end_pos": 40, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-HSA-8940388", "name": "GPLD1 hydrolyses GPI-anchors from proteins", "equation": "", "summary": "Some proteins function at the cell's surface, attached to the plasma membrane via GPI (glycosylphosphatidylinositol) anchors and include enzymes, receptors, cell adhesion molecules and antigens. These GPI-anchored proteins participate in many important cellular functions including immune recognition, complement regulation and intracellular signaling. Phosphatidylinositol-glycan-specific phospholipase D (GPLD1) (Schofield et al. 2000) is a secreted protein that specifically cleaves GPI-anchored proteins by cleaving the linkage between the phosphate and inositol in GPI (Davitz et al. 1987, Low & Prasad 1988). In addition, it also localises to the ER where it can cleave GPI anchor intermediates transiting to the plasma membrane (not shown here). GPLD1 may play a role in the regulation of GPI-anchored proteins on (intra)cellular membranes.", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [ "R-ALL-2197633" ], "enzyme_list": [ "Q7RTY9-1", "Q9Y6M0-1", "O43895-1", "Q13508-1", "P80108-1", "P10696-1", "Q93070-1", "O95497-1", "O95498-1", "Q10588-1", "P14384-1", "P09923-1", "P05186-1" ], "evidence": [ { "id": "R-HSA-8940388", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8940388" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-2197633", "participant_name": "PI [extracellular region]", "crossref": [ { "id": "57880", "database": "ChEBI", "url": "" }, { "id": "57880", "database": "ChEBI", "url": "" }, { "id": "57880", "database": "ChEBI", "url": "" }, { "id": "57880", "database": "ChEBI", "url": "" }, { "id": "57880", "database": "ChEBI", "url": "" }, { "id": "57880", "database": "ChEBI", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O43895", "gene_name": "XPNPEP2", "activity": [ { "ec_number": "3.4.11.9", "activity": "Release of any N-terminal amino acid, including proline, that is linked to proline, even from a dipeptide or tripeptide.", "evidence": [ { "id": "O43895", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43895" } ] }, { "ec_number": "3.4.11.9", "activity": "", "evidence": [ { "id": "O43895", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43895" } ] } ] }, { "uniprot_ac": "O95497", "gene_name": "VNN1", "activity": [ { "ec_number": "3.5.1.92", "activity": "(R)-pantetheine + H2O = (R)-pantothenate + cysteamine.", "evidence": [ { "id": "O95497", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95497" } ] }, { "ec_number": "3.5.1.92", "activity": "", "evidence": [ { "id": "O95497", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95497" } ] } ] }, { "uniprot_ac": "O95498", "gene_name": "VNN2", "activity": [ { "ec_number": "3.5.1.92", "activity": "(R)-pantetheine + H2O = (R)-pantothenate + cysteamine.", "evidence": [ { "id": "O95498", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95498" } ] }, { "ec_number": "3.5.1.92", "activity": "", "evidence": [ { "id": "O95498", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95498" } ] } ] }, { "uniprot_ac": "P05186", "gene_name": "ALPL", "activity": [ { "ec_number": "3.1.3.1", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P05186", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05186" } ] }, { "ec_number": "3.9.1.1", "activity": "H2O + N-phosphocreatine = creatine + phosphate.", "evidence": [ { "id": "P05186", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05186" } ] }, { "ec_number": "3.1.3.1", "activity": "", "evidence": [ { "id": "P05186", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05186" } ] }, { "ec_number": "3.9.1.1", "activity": "", "evidence": [ { "id": "P05186", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05186" } ] } ] }, { "uniprot_ac": "P09923", "gene_name": "ALPI", "activity": [ { "ec_number": "3.1.3.1", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P09923", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09923" } ] }, { "ec_number": "3.1.3.1", "activity": "", "evidence": [ { "id": "P09923", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09923" } ] } ] }, { "uniprot_ac": "P10696", "gene_name": "ALPG", "activity": [ { "ec_number": "3.1.3.1", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P10696", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10696" } ] }, { "ec_number": "3.1.3.1", "activity": "", "evidence": [ { "id": "P10696", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10696" } ] } ] }, { "uniprot_ac": "P14384", "gene_name": "CPM", "activity": [ { "ec_number": "3.4.17.12", "activity": "Cleavage of C-terminal arginine or lysine residues from polypeptides.", "evidence": [ { "id": "P14384", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14384" } ] }, { "ec_number": "3.4.17.12", "activity": "", "evidence": [ { "id": "P14384", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14384" } ] } ] }, { "uniprot_ac": "P80108", "gene_name": "GPLD1", "activity": [ { "ec_number": "3.1.4.50", "activity": "an alpha-D-GlcN-(1->6)-(1,2-diacyl-sn-glycero-3-phospho)-1D-myo-inositol + H2O = 6-(alpha-D-glucosaminyl)-1D-myo-inositol + a 1,2-diacyl-sn-glycero-3-phosphate + H(+).", "evidence": [ { "id": "P80108", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P80108" } ] }, { "ec_number": "3.1.4.50", "activity": "", "evidence": [ { "id": "P80108", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P80108" } ] } ] }, { "uniprot_ac": "Q10588", "gene_name": "BST1", "activity": [ { "ec_number": "3.2.2.6", "activity": "H2O + NAD(+) = ADP-D-ribose + H(+) + nicotinamide.", "evidence": [ { "id": "Q10588", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q10588" } ] }, { "ec_number": "3.2.2.6", "activity": "", "evidence": [ { "id": "Q10588", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q10588" } ] } ] }, { "uniprot_ac": "Q13508", "gene_name": "ART3", "activity": [ { "ec_number": "2.4.2.31", "activity": "L-arginyl-[protein] + NADP(+) = H(+) + N(omega)-(2'-phospho-ADP-D-ribosyl)-L-arginyl-[protein] + nicotinamide.", "evidence": [ { "id": "Q13508", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13508" } ] }, { "ec_number": "2.4.2.31", "activity": "", "evidence": [ { "id": "Q13508", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13508" } ] } ] }, { "uniprot_ac": "Q7RTY9", "gene_name": "PRSS41", "activity": [ { "ec_number": "3.4.21.-", "activity": "", "evidence": [ { "id": "Q7RTY9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7RTY9" } ] } ] }, { "uniprot_ac": "Q93070", "gene_name": "ART4", "activity": [ { "ec_number": "2.4.2.31", "activity": "L-arginyl-[protein] + NADP(+) = H(+) + N(omega)-(2'-phospho-ADP-D-ribosyl)-L-arginyl-[protein] + nicotinamide.", "evidence": [ { "id": "Q93070", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q93070" } ] }, { "ec_number": "2.4.2.31", "activity": "", "evidence": [ { "id": "Q93070", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q93070" } ] } ] }, { "uniprot_ac": "Q9Y6M0", "gene_name": "PRSS21", "activity": [ { "ec_number": "3.4.21.-", "activity": "", "evidence": [ { "id": "Q9Y6M0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y6M0" } ] } ] } ], "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": [ 38, 115, 163, 164, 363, 384 ], "o_linked_sites": [ 240 ], "snv_sites": [ 115, 117, 157, 256, 302, 331, 384, 386, 408, 420 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 115, "end_pos": 117 }, { "start_pos": 164, "end_pos": 166 }, { "start_pos": 363, "end_pos": 365 }, { "start_pos": 384, "end_pos": 386 }, { "start_pos": 38, "end_pos": 40 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 8 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 6 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 5 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "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_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": 11 }, { "field": "total_sites", "count": 10 } ], "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": 1 }, { "field": "total_sites", "count": 1 } ], "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": 10 }, { "field": "total_sites", "count": 9 } ], "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": 16 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }