{ "uniprot_canonical_ac": "P09093-1", "uniprot_ac": "P09093", "uniprot_id": "CEL3A_HUMAN", "mass": { "chemical_mass": 29489.0, "monoisotopic_mass": 29489.0 }, "refseq": { "ac": "NP_005738", "name": "chymotrypsin-like elastase family member 3A preproprotein", "summary": "Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, elastase 3A has little elastolytic activity. Like most of the human elastases, elastase 3A is secreted from the pancreas as a zymogen and, like other serine proteases such as trypsin, chymotrypsin and kallikrein, it has a digestive function in the intestine. Elastase 3A preferentially cleaves proteins after alanine residues. Elastase 3A may also function in the intestinal transport and metabolism of cholesterol. Both elastase 3A and elastase 3B have been referred to as protease E and as elastase 1. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005738" }, "gene_names": [ { "name": "CELA3A", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P09093", "id": "P09093" }, { "name": "CELA3A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005738", "id": "NP_005738" }, { "name": "ELA3; ELA3A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005738", "id": "NP_005738" }, { "name": "ELA3A", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P09093", "id": "P09093" }, { "name": "ELA3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P09093", "id": "P09093" } ], "protein_names": [ { "name": "Chymotrypsin-like elastase family member 3A", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P09093" }, { "name": "3.4.21.70", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P09093" }, { "name": "Elastase IIIA", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P09093" }, { "name": "Elastase-3A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P09093" }, { "name": "Protease E", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P09093" }, { "name": "chymotrypsin-like elastase family member 3A preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005738", "id": "NP_005738" }, { "name": "protease E; elastase 1; elastase-3A; elastase IIIA; chymotrypsin like elastase family member 3A; elastase 3A, pancreatic", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005738", "id": "NP_005738" } ], "function": [ { "annotation": "Complex Formation of Human Proelastases with Procarboxypeptidases A1 and A2.", "evidence": [ { "database": "RefSeq", "id": "NP_005738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005738" }, { "database": "PubMed", "id": "27358403", "url": "https://glygen.org/publication/PubMed/27358403" } ] }, { "annotation": "Efficient protease with alanine specificity but only little elastolytic activity.", "evidence": [ { "database": "UniProtKB", "id": "P09093", "url": "https://www.uniprot.org/uniprot/P09093#function" } ] }, { "annotation": "Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, elastase 3A has little elastolytic activity. Like most of the human elastases, elastase 3A is secreted from the pancreas as a zymogen and, like other serine proteases such as trypsin, chymotrypsin and kallikrein, it has a digestive function in the intestine. Elastase 3A preferentially cleaves proteins after alanine residues. Elastase 3A may also function in the intestinal transport and metabolism of cholesterol. Both elastase 3A and elastase 3B have been referred to as protease E and as elastase 1. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_005738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005738" } ] }, { "annotation": "Expression of PE IIIA and its splicing variants in pancreatic carcinoma cells", "evidence": [ { "database": "RefSeq", "id": "NP_005738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005738" }, { "database": "PubMed", "id": "12373299", "url": "https://glygen.org/publication/PubMed/12373299" } ] }, { "annotation": "Variants affecting amino-acid position 241 in CELA3A and CELA3B are not associated with chronic pancreatitis, indicating that changes in complex formation between proelastases and procarboxypeptidases do not alter pancreatitis risk. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005738" }, { "database": "PubMed", "id": "27999401", "url": "https://glygen.org/publication/PubMed/27999401" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1001786832", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1001786832" }, { "id": "rs1001786832", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1001786832#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 102, "end_pos": 102, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (INS->NNS).", "chr_id": "1", "chr_pos": "22005739", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I102", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1444963906", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1444963906" }, { "id": "rs1444963906", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1444963906" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 114, "end_pos": 114, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRS->TRS).", "chr_id": "1", "chr_pos": "22005775", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N114", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P09093", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P09093" }, { "id": "rs147890009", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147890009" }, { "id": "rs147890009", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147890009" }, { "id": "rs147890009", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147890009" }, { "id": "rs147890009", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs147890009#frequency_tab" }, { "id": "rs147890009", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs147890009" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 116, "end_pos": 116, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NRS->NRL).", "chr_id": "1", "chr_pos": "22005781", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S116", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] }, { "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", "ebi", "germline" ] }, { "evidence": [ { "id": "rs572609699", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572609699" }, { "id": "rs572609699", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572609699" }, { "id": "rs572609699", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs572609699#frequency_tab" }, { "id": "rs572609699", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs572609699" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 247, "end_pos": 247, "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFI->NFS).", "chr_id": "1", "chr_pos": "22009802", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I247", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P09093", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P09093" }, { "id": "rs572609699", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572609699" }, { "id": "rs572609699", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572609699" }, { "id": "rs572609699", "database": "TOPMed", "url": 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"description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant 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"dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs559865625" }, { "id": "rs559865625", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs559865625" }, { "id": "rs559865625", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs559865625" }, { "id": "rs559865625", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs559865625" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 51, "end_pos": 51, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SGS->NGS).", "chr_id": "1", "chr_pos": "22005469", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "S51", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P09093", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P09093" }, { "id": "rs377420172", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377420172" }, { "id": "rs377420172", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377420172" }, { "id": "rs377420172", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377420172" }, { "id": "rs377420172", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377420172#frequency_tab" }, { "id": "rs377420172", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377420172" }, { "id": "22842228", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22842228" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 78, "end_pos": 78, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DLT->NLT).", "chr_id": "1", "chr_pos": "22005666", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D78", "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", "ebi" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "66.13", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000142789", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142789" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000142789", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142789" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "65.77", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000142789", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142789" } ] }, { "tissue": { "name": "Uterus", 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"47.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000142789", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142789" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "65.57", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000142789", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142789" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "55.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000142789", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142789" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000142789", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142789" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "24.08", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000142789", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142789" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "74.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000142789", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142789" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "73.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000142789", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142789" } ] } ], 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"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 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"https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P09093", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09093" } ], "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": 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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": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P09093", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09093" } ], "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/P09093" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P09093", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09093" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09093", "url": "https://www.uniprot.org/uniprot/P09093" } ], "common_name": "Human" } ], "gene": [ { "name": "CELA3A", "url": "https://www.uniprot.org/uniprot/P09093", "locus": { "chromosome": "1", "start_pos": 22012542, "end_pos": 22001657, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000142789", "url": "https://www.ensembl.org/id/ENSG00000142789" } ] } } ], "crossref": [ { "id": "ENSG00000142789", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142789", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P09093", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P09093", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd00190", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00190", "database": "CDD", 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"https://www.ebi.ac.uk/interpro/entry/IPR009003", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018114", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018114", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR033116", "url": "https://www.ebi.ac.uk/interpro/entry/IPR033116", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR043504", "url": "https://www.ebi.ac.uk/interpro/entry/IPR043504", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:10136", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10136", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "618693", "url": "http://www.omim.org/entry/618693", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P09093", "url": "https://www.nextprot.org/entry/NX_P09093", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P09093", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P09093", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "QWISDTM", "url": "https://omabrowser.org/oma/group/QWISDTM/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4629979at2759", "url": "http://www.orthodb.org/?query=4629979at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24257", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24257", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24257:SF11", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24257:SF11", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00089", "url": "http://pfam.xfam.org/family/PF00089", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P09093", "url": "https://pharos.nih.gov/targets/P09093", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P09093", "url": "http://purl.obolibrary.org/obo/PR_P09093", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_005738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005738", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "B1AQ55", "url": "https://www.uniprot.org/uniprot/B1AQ55", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B1AQ55-1", "url": "https://www.uniprot.org/uniprot/B1AQ55-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P09093", "url": "https://www.uniprot.org/uniprot/P09093", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P09093-1", "url": "https://www.uniprot.org/uniprot/P09093-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MMLRLLSSLLLVAVASGYGPPSSHSSSRVVHGEDAVPYSWPWQVSLQYEKSGSFYHTCGGSLIAPDWVVTAGHCISRDLTYQVVLGEYNLAVKEGPEQVIPINSEELFVHPLWNRSCVACGNDIALIKLSRSAQLGDAVQLASLPPAGDILPNKTPCYITGWGRLYTNGPLPDKLQQARLPVVDYKHCSRWNWWGSTVKKTMVCAGGYIRSGCNGDSGGPLNCPTEDGGWQVHGVTSFVSAFGCNFIWKPTVFTRVSAFIDWIEETIASH", "length": 270, "header": "sp|P09093-1|CEL3A_HUMAN Isoform 1 of Chymotrypsin-like elastase family member 3A OS=Homo sapiens OX=9606 GN=CELA3A PE=1 SV=3 CANONICAL=P09093-1" }, "isoforms": [ { "isoform_ac": "B1AQ55-1", "url": "", "sequence": { "sequence": "WWGSTVKKTMVCAGGYIRSGCNGDSGGPLNCPTEDGGWQVHGVTSFVSAFGCNFIWKPTVFTRVSAFIDWIEEGG", "length": 75, "header": "tr|B1AQ55-1|B1AQ55_HUMAN Computationally mapped isoform of Chymotrypsin like elastase 3A OS=Homo sapiens OX=9606 GN=CELA3A PE=1 SV=1 CANONICAL=P09093-1" }, "locus": { "chromosome": "1", "start_pos": 22010143, "end_pos": 22007450, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000400271.2", "url": "https://www.ensembl.org/id/ENST00000400271.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000383130.2", "url": "https://www.ensembl.org/id/ENSP00000383130.2" } ] } }, { "isoform_ac": "P09093-1", "url": "", "sequence": { "sequence": "MMLRLLSSLLLVAVASGYGPPSSHSSSRVVHGEDAVPYSWPWQVSLQYEKSGSFYHTCGGSLIAPDWVVTAGHCISRDLTYQVVLGEYNLAVKEGPEQVIPINSEELFVHPLWNRSCVACGNDIALIKLSRSAQLGDAVQLASLPPAGDILPNKTPCYITGWGRLYTNGPLPDKLQQARLPVVDYKHCSRWNWWGSTVKKTMVCAGGYIRSGCNGDSGGPLNCPTEDGGWQVHGVTSFVSAFGCNFIWKPTVFTRVSAFIDWIEETIASH", "length": 270, "header": "sp|P09093-1|CEL3A_HUMAN Isoform 1 of Chymotrypsin-like elastase family member 3A OS=Homo sapiens OX=9606 GN=CELA3A PE=1 SV=3 CANONICAL=P09093-1" }, "locus": { "chromosome": "1", "start_pos": 22012464, "end_pos": 22001675, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000290122.8", "url": "https://www.ensembl.org/id/ENST00000290122.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000290122.3", "url": "https://www.ensembl.org/id/ENSP00000290122.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "P09093", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09093#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P09093", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P09093" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Pancreatic elastase IIIA and its variants are expressed in pancreatic carcinoma cells.", "journal": "International journal of molecular medicine", "date": "2002", "authors": "Shimada S, Yamaguchi K, Takahashi M, Ogawa M", "evidence": [ { "database": "RefSeq", "id": "NP_005738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005738" } ], "reference": [ { "type": "PubMed", "id": "12373299", "url": "https://glygen.org/publication/PubMed/12373299" } ] }, { "title": "Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma.", "journal": "Nature genetics", "date": "2012", "authors": "Krauthammer M, Kong Y, Ha BH, Evans P, Bacchiocchi A, McCusker JP, Cheng E, Davis MJ, Goh G, Choi M, Ariyan S, Narayan D, Dutton-Regester K, Capatana A, Holman EC, Bosenberg M, Sznol M, Kluger HM, Brash DE, Stern DF, Materin MA, Lo RS, Mane S, Ma S, Kidd KK, Hayward NK, Lifton RP, Schlessinger J, Boggon TJ, Halaban R", "evidence": [ { "database": "dbSNP", "id": "rs377420172", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377420172" } ], "reference": [ { "type": "PubMed", "id": "22842228", "url": "https://glygen.org/publication/PubMed/22842228" } ] }, { "title": "Molecular cloning of complementary DNA encoding one of the human pancreatic protease E isozymes.", "journal": "J. Biochem.", "date": "1988", "authors": "Shirasu Y, Takemura K, Yoshida H, Sato Y, Iijima H, Shimada Y, Mikayama T, Ozawa T, Ikeda N, Ishida A, et al.", "evidence": [ { "database": "UniProtKB", "id": "P09093", "url": "https://www.uniprot.org/uniprot/P09093" } ], "reference": [ { "type": "PubMed", "id": "2460440", "url": "https://glygen.org/publication/PubMed/2460440" } ] }, { "title": "Complex Formation of Human Proelastases with Procarboxypeptidases A1 and A2.", "journal": "The Journal of biological chemistry", "date": "2016", "authors": "Szabo A, Pilsak C, Bence M, Witt H, Sahin-Toth M", "evidence": [ { "database": "RefSeq", "id": "NP_005738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005738" } ], "reference": [ { "type": "PubMed", "id": "27358403", "url": "https://glygen.org/publication/PubMed/27358403" } ] }, { "title": "Genetic Analysis of Human Chymotrypsin-Like Elastases 3A and 3B (CELA3A and CELA3B) to Assess the Role of Complex Formation between Proelastases and Procarboxypeptidases in Chronic Pancreatitis.", "journal": "International journal of molecular sciences", "date": "2016", "authors": "Parniczky A, Hegyi E, Toth AZ, Szucs A, Szentesi A, Vincze A, Izbeki F, Nemeth BC, Hegyi P, Sahin-Toth M", "evidence": [ { "database": "RefSeq", "id": "NP_005738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005738" } ], "reference": [ { "type": "PubMed", "id": "27999401", "url": "https://glygen.org/publication/PubMed/27999401" } ] }, { "title": "Identification of a novel class of elastase isozyme, human pancreatic elastase III, by cDNA and genomic gene cloning.", "journal": "J. Biol. Chem.", "date": "1988", "authors": "Tani T, Ohsumi J, Mita K, Takiguchi Y", "evidence": [ { "database": "UniProtKB", "id": "P09093", "url": "https://www.uniprot.org/uniprot/P09093" } ], "reference": [ { "type": "PubMed", "id": "2826474", "url": "https://glygen.org/publication/PubMed/2826474" } ] }, { "title": "O-GlcNAc Transferase Recognizes Protein Substrates Using an Asparagine Ladder in the Tetratricopeptide Repeat (TPR) Superhelix.", "journal": "Journal of the American Chemical Society", "date": "2018", "authors": "Levine ZG, Fan C, Melicher MS, Orman M, Benjamin T, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P09093", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P09093" } ], "reference": [ { "type": "PubMed", "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866" } ] } ], "pathway": [ { "id": "hsa:10136", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10136", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A2A9U8-1", "protein_name": "Chymotrypsin-like elastase family, member 3A", "gene_name": "Cela3a", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLRLLSSLLLVALASGCGQPSHNPSSRVVNGEEAVPHSWPWQVSLQYEMGGSFHHTCGGSLITPDWVLTAGHCIMPYLNYRVVLGEHEHGVEEGSEQVIPINAGELFVHPKWNSECVNCGNNIALVKLSRSAQLGDAVQLACLPPAGEILPNGAPCYISGWGRLSTNGPLPTKLQQALLPVVDYEHCSRWDWWGHYVKRTMVCAGGYIQAHSLSSDTHQPRLLSPLQGDSGGPLNCPADNGTWQVHGIASFVSPSGCNTLKKPTMFTRVSAFIDWIEETIANN", "length": 283 }, "evidence": [ { "id": "45920811", "url": "http://www.informatics.jax.org/homology/45920811", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P08861-1", "protein_name": "Chymotrypsin-like elastase family member 3B", "gene_name": "CELA3B", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MMLRLLSSLLLVAVASGYGPPSSRPSSRVVNGEDAVPYSWPWQVSLQYEKSGSFYHTCGGSLIAPDWVVTAGHCISSSRTYQVVLGEYDRAVKEGPEQVIPINSGDLFVHPLWNRSCVACGNDIALIKLSRSAQLGDAVQLASLPPAGDILPNETPCYITGWGRLYTNGPLPDKLQEALLPVVDYEHCSRWNWWGSSVKKTMVCAGGDIRSGCNGDSGGPLNCPTEDGGWQVHGVTSFVSAFGCNTRRKPTVFTRVSAFIDWIEETIASH", "length": 270 }, "evidence": [ { "id": "45920811", "url": "http://www.informatics.jax.org/homology/45920811", "database": "MGI" }, { "id": "45920810", "url": "http://www.informatics.jax.org/homology/45920810", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "Q9CQ52-1", "protein_name": "Chymotrypsin-like elastase family member 3B", "gene_name": "Cela3b", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLRLLSSLLLVALASGCGQPSHNPSSRVVNGEEAVPHSWPWQVSLQYEKDGSFHHTCGGSLITPDWVLTAGHCISTSRTYQVVLGEHERGVEEGQEQVIPINAGDLFVHPKWNSMCVSCGNDIALVKLSRSAQLGDAVQLACLPPAGEILPNGAPCYISGWGRLSTNGPLPDKLQQALLPVVDYEHCSRWNWWGLSVKTTMVCAGGDIQSGCNGDSGGPLNCPADNGTWQVHGVTSFVSSLGCNTLRKPTVFTRVSAFIDWIEETIANN", "length": 269 }, "evidence": [ { "id": "45920810", "url": "http://www.informatics.jax.org/homology/45920810", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "P09093", "url": "https://www.uniprot.org/uniprot/P09093" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P09093", "url": "https://www.uniprot.org/uniprot/P09093" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 1, "go_terms": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P09093", "url": "https://www.uniprot.org/uniprot/P09093" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 114, "end_pos": 116, "annotation": "n_glycosylation_sequon" }, { "start_pos": 153, "end_pos": 155, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 114 ], "o_linked_sites": [], "snv_sites": [ 24, 51, 78, 102, 114, 116, 247 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 114, "end_pos": 116 }, { "start_pos": 153, "end_pos": 155 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "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_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_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": 8 }, { "field": "total_sites", "count": 7 } ], "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": 3 }, { "field": "total_sites", "count": 3 } ], "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": 5 }, { "field": "total_sites", "count": 5 } ], "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": 7 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }