{ "uniprot_canonical_ac": "P10645-1", "uniprot_ac": "P10645", "uniprot_id": "CMGA_HUMAN", "mass": { "chemical_mass": 50688.0, "monoisotopic_mass": 50688.0 }, "refseq": { "ac": "NP_001266", "name": "chromogranin-A isoform 1 preproprotein", "summary": "The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. It is found in secretory vesicles of neurons and endocrine cells. This gene product is a precursor to three biologically active peptides; vasostatin, pancreastatin, and parastatin. These peptides act as autocrine or paracrine negative modulators of the neuroendocrine system. Two other peptides, catestatin and chromofungin, have antimicrobial activity and antifungal activity, respectively. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001266" }, "gene_names": [ { "name": "CHGA", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P10645", "id": "P10645" }, { "name": "CGA; PHE5; PHES", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001266", "id": "NP_001266" }, { "name": "CHGA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001266", "id": "NP_001266" }, { "name": "hCG_21274", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10645", "id": "P10645" } ], "protein_names": [ { "name": "Chromogranin-A", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P10645" }, { "name": "CgA", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10645" }, { "name": "Pituitary secretory protein I", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10645" }, { "name": "SL21", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10645" }, { "name": "SP-I", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10645" }, { "name": "Vasostatin II", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10645" }, { "name": "Vasostatin I", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10645" }, { "name": "chromogranin-A isoform 1 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001266", "id": "NP_001266" }, { "name": "parathyroid secretory protein 1; betagranin (N-terminal fragment of chromogranin A); SP-I; pituitary secretory protein I; chromofungin; catestatin", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001266", "id": "NP_001266" } ], "function": [ { "annotation": "Catestatin is an antimicrobial peptide with activity against bacteria, fungi, and malaria.", "evidence": [ { "database": "RefSeq", "id": "NP_001266", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001266" }, { "database": "PubMed", "id": "20965217", "url": "https://glygen.org/publication/PubMed/20965217" } ] }, { "annotation": "Chromofungin is an antimicrobial peptide with antifungal activity.", "evidence": [ { "database": "RefSeq", "id": "NP_001266", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001266" }, { "database": "PubMed", "id": "12438152", "url": "https://glygen.org/publication/PubMed/12438152" } ] }, { "annotation": "Effects of the SPI/lncRNA NEAT1 Axis on Functions of Trophoblast and Decidual Cells in Patients with Recurrent Miscarriage.", "evidence": [ { "database": "RefSeq", "id": "NP_001266", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001266" }, { "database": "PubMed", "id": "37017669", "url": "https://glygen.org/publication/PubMed/37017669" } ] }, { "annotation": "Inhibits catecholamine release from chromaffin cells and noradrenergic neurons by acting as a non-competitive nicotinic cholinergic antagonist (PubMed:15326220). Displays antibacterial activity against Gram-positive bacteria S.aureus and M.luteus, and Gram-negative bacteria E.coli and P.aeruginosa (PubMed:15723172, PubMed:24723458). Can induce mast cell migration, degranulation and production of cytokines and chemokines (PubMed:21214543). Acts as a potent scavenger of free radicals in vitro (PubMed:24723458). May play a role in the regulation of cardiac function and blood pressure (PubMed:18541522).", "evidence": [ { "database": "UniProtKB", "id": "P10645", "url": "https://www.uniprot.org/uniprot/P10645#function" }, { "database": "PubMed", "id": "15723172", "url": "https://glygen.org/publication/PubMed/15723172" }, { "database": "PubMed", "id": "21214543", "url": "https://glygen.org/publication/PubMed/21214543" }, { "database": "PubMed", "id": "18541522", "url": "https://glygen.org/publication/PubMed/18541522" }, { "database": "PubMed", "id": "15326220", "url": "https://glygen.org/publication/PubMed/15326220" }, { "database": "PubMed", "id": "24723458", "url": "https://glygen.org/publication/PubMed/24723458" } ] }, { "annotation": "Low catestatin as a risk factor for cardiovascular disease - assessment in patients with adrenal incidentalomas. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001266", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001266" }, { "database": "PubMed", "id": "37522122", "url": "https://glygen.org/publication/PubMed/37522122" } ] }, { "annotation": "Regulates granule biogenesis in endocrine cells by up-regulating the transcription of protease nexin 1 (SERPINE2) via a cAMP-PKA-SP1 pathway. This leads to inhibition of granule protein degradation in the Golgi complex which in turn promotes granule formation.", "evidence": [ { "database": "UniProtKB", "id": "P10645", "url": "https://www.uniprot.org/uniprot/P10645#function" }, { "database": "UniProtKB", "id": "P26339", "url": "https://www.uniprot.org/uniprot/P26339#function" } ] }, { "annotation": "Role of Chromogranin A in the Diagnosis and Follow-up of Neuroendocrine Tumors: Real-World Experience.", "evidence": [ { "database": "RefSeq", "id": "NP_001266", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001266" }, { "database": "PubMed", "id": "36607947", "url": "https://glygen.org/publication/PubMed/36607947" } ] }, { "annotation": "Salivary cortisol, dehydroepiandrosterone, and chromogranin A levels in patients with gingivitis and periodontitis and a novel biomarker for psychological stress. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001266", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001266" }, { "database": "PubMed", "id": "37113482", "url": "https://glygen.org/publication/PubMed/37113482" } ] }, { "annotation": "Strongly inhibits glucose induced insulin release from the pancreas.", "evidence": [ { "database": "UniProtKB", "id": "P10645", "url": "https://www.uniprot.org/uniprot/P10645#function" }, { "database": "UniProtKB", "id": "G5E968", "url": "https://www.uniprot.org/uniprot/G5E968#function" }, { "database": "UniProtKB", "id": "ARBA00037544", "url": "https://www.uniprot.org/uniprot/ARBA00037544#function" } ] }, { "annotation": "The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. It is found in secretory vesicles of neurons and endocrine cells. This gene product is a precursor to three biologically active peptides; vasostatin, pancreastatin, and parastatin. These peptides act as autocrine or paracrine negative modulators of the neuroendocrine system. Two other peptides, catestatin and chromofungin, have antimicrobial activity and antifungal activity, respectively. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001266", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001266" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1302975723", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1302975723" }, { "id": "rs1302975723", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1302975723" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 181, "end_pos": 181, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "14", "chr_pos": "92931436", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T181", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752949719", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752949719" }, { "id": "rs752949719", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752949719" }, { "id": "rs752949719", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752949719" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 183, "end_pos": 183, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->N).", "chr_id": "14", "chr_pos": "92931442", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T183", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1029637941", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1029637941" }, { "id": "rs1029637941", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1029637941" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 183, "end_pos": 183, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->P).", "chr_id": "14", "chr_pos": "92931441", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T183", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1392925761", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1392925761" }, { "id": "rs1392925761", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1392925761" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 191, "end_pos": 191, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->I).", "chr_id": "14", "chr_pos": "92931466", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S191", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P10645", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10645" } ], "glycoeffect": [], "start_pos": 264, "end_pos": 264, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "92931686", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "E264", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": 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"name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar 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"description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal 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"https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P10645", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10645" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { 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"name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"url": "https://www.uniprot.org/uniprot/G3V2Q7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V2Q7-1", "url": "https://www.uniprot.org/uniprot/G3V2Q7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G5E968", "url": "https://www.uniprot.org/uniprot/G5E968", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G5E968-1", "url": "https://www.uniprot.org/uniprot/G5E968-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10645", "url": "https://www.uniprot.org/uniprot/P10645", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10645-1", "url": "https://www.uniprot.org/uniprot/P10645-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRSAAVLALLLCAGQVTALPVNSPMNKGDTEVMKCIVEVISDTLSKPSPMPVSQECFETLRGDERILSILRHQNLLKELQDLALQGAKERAHQQKKHSGFEDELSEVLENQSSQAELKEAVEEPSSKDVMEKREDSKEAEKSGEATDGARPQALPEPMQESKAEGNNQAPGEEEEEEEEATNTHPPASLPSQKYPGPQAEGDSEGLSQGLVDREKGLSAEPGWQAKREEEEEEEEEAEAGEEAVPEEEGPTVVLNPHPSLGYKEIRKGESRSEALAVDGAGKPGAEEAQDPEGKGEQEHSQQKEEEEEMAVVPQGLFRGGKSGELEQEEERLSKEWEDSKRWSKMDQLAKELTAEKRLEGQEEEEDNRDSSMKLSFRARAYGFRGPGPQLRRGWRPSSREDSLEAGLPLQVRGYPEEKKEEEGSANRRPEDQELESLSAIEAELEKVAHQLQALRRG", "length": 457, "header": "sp|P10645-1|CMGA_HUMAN Isoform 1 of Chromogranin-A OS=Homo sapiens OX=9606 GN=CHGA PE=1 SV=7 CANONICAL=P10645-1" }, "isoforms": [ { "isoform_ac": "G3V2Q7-1", "url": "", "sequence": { "sequence": "MRSAAVLALLLCAGQVTALPVNSPMNKGDTEMNGSFPF", "length": 38, "header": "tr|G3V2Q7-1|G3V2Q7_HUMAN Computationally mapped isoform of Chromogranin-A OS=Homo sapiens OX=9606 GN=CHGA PE=4 SV=1 CANONICAL=P10645-1" }, "locus": { "chromosome": "14", "start_pos": 92927570, "end_pos": 92923360, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000556076.5", "url": "https://www.ensembl.org/id/ENST00000556076.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000450801.1", "url": "https://www.ensembl.org/id/ENSP00000450801.1" } ] } }, { "isoform_ac": "G5E968-1", "url": "", "sequence": { "sequence": "MRSAAVLALLLCAGQVTALPVNSPMNKGDTEVMKCIVEVISDTLSKPSPMPVSQECFETLRGDERILSILRHQNLLKELQDLALQGAKERAHQQKKHSGFEDELSEVLENQSSQAELKGRSEALAVDGAGKPGAEEAQDPEGKGEQEHSQQKEEEEEMAVVPQGLFRGGKSGELEQEEERLSKEWEDSKRWSKMDQLAKELTAEKRLEGQEEEEDNRDSSMKLSFRARAYGFRGPGPQLRRGWRPSSREDSLEAGLPLQVRGYPEEKKEEEGSANRRPEDQELESLSAIEAELEKVAHQLQALRRG", "length": 306, "header": "tr|G5E968-1|G5E968_HUMAN Computationally mapped isoform of Chromogranin-A OS=Homo sapiens OX=9606 GN=CHGA PE=1 SV=1 CANONICAL=P10645-1" }, "locus": { "chromosome": "HSCHR14_7_CTG1", "start_pos": 49443, "end_pos": 37922, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000630996.1", "url": "https://www.ensembl.org/id/ENST00000630996.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000486710.1", "url": "https://www.ensembl.org/id/ENSP00000486710.1" } ] } }, { "isoform_ac": "P10645-1", "url": "", "sequence": { "sequence": "MRSAAVLALLLCAGQVTALPVNSPMNKGDTEVMKCIVEVISDTLSKPSPMPVSQECFETLRGDERILSILRHQNLLKELQDLALQGAKERAHQQKKHSGFEDELSEVLENQSSQAELKEAVEEPSSKDVMEKREDSKEAEKSGEATDGARPQALPEPMQESKAEGNNQAPGEEEEEEEEATNTHPPASLPSQKYPGPQAEGDSEGLSQGLVDREKGLSAEPGWQAKREEEEEEEEEAEAGEEAVPEEEGPTVVLNPHPSLGYKEIRKGESRSEALAVDGAGKPGAEEAQDPEGKGEQEHSQQKEEEEEMAVVPQGLFRGGKSGELEQEEERLSKEWEDSKRWSKMDQLAKELTAEKRLEGQEEEEDNRDSSMKLSFRARAYGFRGPGPQLRRGWRPSSREDSLEAGLPLQVRGYPEEKKEEEGSANRRPEDQELESLSAIEAELEKVAHQLQALRRG", "length": 457, "header": "sp|P10645-1|CMGA_HUMAN Isoform 1 of Chromogranin-A OS=Homo sapiens OX=9606 GN=CHGA PE=1 SV=7 CANONICAL=P10645-1" }, "locus": { "chromosome": "HSCHR14_7_CTG1", "start_pos": 49443, "end_pos": 37922, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000613166.3", "url": "https://www.ensembl.org/id/ENST00000613166.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000478198.1", "url": "https://www.ensembl.org/id/ENSP00000478198.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G00031MO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "THR-181 AND/OR THR-183, AND THR-251 ; THR-181 AND/OR THR-183, AND THR-251", "start_pos": 181, "start_aa": "Thr", "end_pos": 181, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr181", "evidence": [ { "id": "P10645", "database": "UniCarbKB", "url": "" }, { "id": "9852066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9852066" }, { "id": "93", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/93" } ] }, { "glytoucan_ac": "G01614ZM", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: T-181, T-183, T-251", "start_pos": 181, "start_aa": "Thr", "end_pos": 181, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr181", "evidence": [ { "id": "P10645", "database": "UniCarbKB", "url": "" }, { "id": "9852066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9852066" }, { "id": "93", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/93" } ] }, { "glytoucan_ac": "G29931IJ", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 181, "start_aa": "Thr", "end_pos": 181, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr181", "evidence": [ { "id": "93", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/93" }, { "id": "9852066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9852066" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: T-181, T-183, T-251", "start_pos": 181, "start_aa": "Thr", "end_pos": 181, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr181", "evidence": [ { "id": "P10645", "database": "UniCarbKB", "url": "" }, { "id": "9852066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9852066" } ] }, { "glytoucan_ac": "G65562ZE", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: THR-181 AND/OR THR-183, AND THR-251", "start_pos": 181, "start_aa": "Thr", "end_pos": 181, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr181", "evidence": [ { "id": "P10645", "database": "UniCarbKB", "url": "" }, { "id": "9852066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9852066" }, { "id": "93", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/93" } ] }, { "glytoucan_ac": "G74722FL", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 181, "start_aa": "Thr", "end_pos": 181, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr181", "evidence": [ { "id": "93", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/93" }, { "id": "9852066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9852066" } ] }, { "glytoucan_ac": "G81006GJ", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 181, "start_aa": "Thr", "end_pos": 181, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr181", "evidence": [ { "id": "93", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/93" }, { "id": "9852066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9852066" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "site_category": "reported", "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine O-GalNAcylation", "start_pos": 181, "start_aa": "Thr", "end_pos": 181, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr181", "evidence": [ { "id": "P10645", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10645#ptm_processing" }, { "id": "9852066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9852066" } ] }, { "glytoucan_ac": "G00031MO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: T-181, T-183, T-251", "start_pos": 183, "start_aa": "Thr", "end_pos": 183, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr183", "evidence": [ { "id": "P10645", "database": "UniCarbKB", "url": "" }, { "id": "9852066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9852066" }, { "id": "93", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/93" } ] }, { "glytoucan_ac": "G01614ZM", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: T-181, T-183, T-251", "start_pos": 183, "start_aa": "Thr", "end_pos": 183, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr183", "evidence": [ { "id": "P10645", "database": "UniCarbKB", "url": "" }, { "id": "9852066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9852066" }, { "id": "93", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/93" } ] }, { "glytoucan_ac": "G29931IJ", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 183, "start_aa": "Thr", "end_pos": 183, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr183", "evidence": [ { "id": "93", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/93" }, { "id": "9852066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9852066" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 183, "start_aa": "Thr", "end_pos": 183, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr183", "evidence": [ { "id": "P10645", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: T-181, T-183, T-251", "start_pos": 183, "start_aa": "Thr", "end_pos": 183, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr183", "evidence": [ { "id": "P10645", "database": "UniCarbKB", "url": "" }, { "id": "9852066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9852066" } ] }, { "glytoucan_ac": "G65562ZE", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: T-181, T-183, T-251", "start_pos": 183, "start_aa": "Thr", "end_pos": 183, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr183", "evidence": [ { "id": "P10645", "database": "UniCarbKB", "url": "" }, { "id": "9852066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9852066" }, { "id": "93", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/93" } ] }, { "glytoucan_ac": "G74722FL", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 183, "start_aa": "Thr", "end_pos": 183, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr183", "evidence": [ { "id": "93", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/93" }, { "id": "9852066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9852066" } ] }, { "glytoucan_ac": "G81006GJ", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 183, "start_aa": "Thr", "end_pos": 183, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr183", "evidence": [ { "id": "93", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/93" }, { "id": "9852066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9852066" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "site_category": "reported", "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine O-GalNAcylation", "start_pos": 183, "start_aa": "Thr", "end_pos": 183, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr183", "evidence": [ { "id": "P10645", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10645#ptm_processing" }, { "id": "9852066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9852066" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 191, "start_aa": "Ser", "end_pos": 191, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser191", "evidence": [ { "id": "P10645", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G00031MO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: T-181, T-183, T-251", "start_pos": 251, "start_aa": "Thr", "end_pos": 251, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr251", "evidence": [ { "id": "P10645", "database": "UniCarbKB", "url": "" }, { "id": "9852066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9852066" }, { "id": "93", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/93" } ] }, { "glytoucan_ac": "G01614ZM", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: T-181, T-183, T-251", "start_pos": 251, "start_aa": "Thr", "end_pos": 251, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr251", "evidence": [ { "id": "P10645", "database": "UniCarbKB", "url": "" }, { "id": "9852066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9852066" }, { "id": "93", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/93" } ] }, { "glytoucan_ac": "G29931IJ", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 251, "start_aa": "Thr", "end_pos": 251, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr251", "evidence": [ { "id": "93", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/93" }, { "id": "9852066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9852066" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 251, "start_aa": "Thr", "end_pos": 251, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr251", "evidence": [ { "id": "P10645", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: T-181, T-183, T-251", "start_pos": 251, "start_aa": "Thr", "end_pos": 251, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr251", "evidence": [ { "id": "P10645", "database": "UniCarbKB", "url": "" }, { "id": "9852066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9852066" }, { "id": "93", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/93" } ] }, { "glytoucan_ac": "G65562ZE", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "GlycoSuiteDB curation notes. 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Pept.", "date": "2004", "authors": "Preece Nicholas E, Nguyen Minh, Mahata Manjula, Mahata Sushil K, Mahapatra Nitish R, Tsigelny Igor, O'Connor Daniel T", "evidence": [ { "database": "UniProtKB", "id": "P10645", "url": "https://www.uniprot.org/uniprot/P10645" } ], "reference": [ { "type": "PubMed", "id": "14759560", "url": "https://glygen.org/publication/PubMed/14759560" } ] }, { "title": "Identification and characterization of phosphorylated proteins in the human pituitary.", "journal": "Proteomics", "date": "2004", "authors": "Giorgianni F, Beranova-Giorgianni S, Desiderio DM", "evidence": [ { "database": "UniProtKB", "id": "P10645", "url": "https://www.uniprot.org/uniprot/P10645" }, { "database": "iPTMnet", "id": "P10645", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10645" } ], "reference": [ { "type": "PubMed", "id": "14997482", "url": "https://glygen.org/publication/PubMed/14997482" } ] }, { "title": "Human bactericidal/permeability-increasing protein and a 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"https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P10645", "url": "https://www.uniprot.org/uniprot/P10645" } ], "pmid": "" }, { "name": "transport vesicle", "id": "GO:0030133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030133", "evidence": [ { "database": "UniProtKB", "id": "P10645", "url": "https://www.uniprot.org/uniprot/P10645" } ], "pmid": "" }, { "name": "chromaffin granule", "id": "GO:0042583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042583", "evidence": [ { "database": "UniProtKB", "id": "P10645", "url": "https://www.uniprot.org/uniprot/P10645" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 21, "go_terms": [ { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P10645", "url": "https://www.uniprot.org/uniprot/P10645" } ], "pmid": "" }, { "name": "defense response to Gram-negative bacterium", "id": "GO:0050829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050829", "evidence": [ { "database": "UniProtKB", "id": "P10645", "url": "https://www.uniprot.org/uniprot/P10645" } ], "pmid": "" }, { "name": "defense response to Gram-positive bacterium", "id": "GO:0050830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050830", "evidence": [ { "database": "UniProtKB", "id": "P10645", "url": "https://www.uniprot.org/uniprot/P10645" } ], "pmid": "" }, { "name": "adenylate cyclase-activating adrenergic receptor signaling pathway", "id": "GO:0071880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071880", "evidence": [ { "database": "UniProtKB", "id": "P10645", "url": "https://www.uniprot.org/uniprot/P10645" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P10645", "url": "https://www.uniprot.org/uniprot/P10645" } ], "pmid": "" }, { "name": "negative regulation of insulin secretion", "id": "GO:0046676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046676", "evidence": [ { "database": "UniProtKB", "id": "P10645", "url": "https://www.uniprot.org/uniprot/P10645" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle contraction", "id": "GO:0060452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060452", "evidence": [ { "database": "UniProtKB", "id": "P10645", "url": "https://www.uniprot.org/uniprot/P10645" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "P10645", "url": "https://www.uniprot.org/uniprot/P10645" } ], "pmid": "" }, { "name": "regulation of the force of heart contraction", "id": "GO:0002026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002026", "evidence": [ { "database": "UniProtKB", "id": "P10645", "url": "https://www.uniprot.org/uniprot/P10645" } ], "pmid": "" }, { "name": "killing of cells of another organism", "id": "GO:0031640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031640", "evidence": [ { "database": "UniProtKB", "id": "P10645", "url": "https://www.uniprot.org/uniprot/P10645" } ], "pmid": "" }, { "name": "defense response to fungus", "id": "GO:0050832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050832", "evidence": [ { "database": "UniProtKB", "id": "P10645", "url": "https://www.uniprot.org/uniprot/P10645" } ], "pmid": "" }, { "name": "mast cell activation", "id": "GO:0045576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045576", "evidence": [ { "database": "UniProtKB", "id": "P10645", "url": "https://www.uniprot.org/uniprot/P10645" } ], "pmid": "" }, { "name": "organelle organization", "id": "GO:0006996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006996", "evidence": [ { "database": "UniProtKB", "id": "P10645", "url": "https://www.uniprot.org/uniprot/P10645" } ], "pmid": "" }, { "name": "mast cell degranulation", "id": "GO:0043303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043303", "evidence": [ { "database": "UniProtKB", "id": "P10645", "url": "https://www.uniprot.org/uniprot/P10645" } ], "pmid": "" }, { "name": "mast cell chemotaxis", "id": "GO:0002551", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002551", "evidence": [ { "database": "UniProtKB", "id": "P10645", "url": "https://www.uniprot.org/uniprot/P10645" } ], "pmid": "" }, { "name": "negative regulation of catecholamine secretion", "id": "GO:0033604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033604", "evidence": [ { "database": "UniProtKB", "id": "P10645", "url": "https://www.uniprot.org/uniprot/P10645" } ], "pmid": "" }, { "name": "adenylate cyclase-activating adrenergic receptor signaling pathway involved in cardiac muscle relaxation", "id": "GO:0086030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086030", "evidence": [ { "database": "UniProtKB", "id": "P10645", "url": "https://www.uniprot.org/uniprot/P10645" } ], "pmid": "" }, { "name": "positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway", "id": "GO:1900738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900738", "evidence": [ { "database": "UniProtKB", "id": "P10645", "url": "https://www.uniprot.org/uniprot/P10645" } ], "pmid": "" }, { "name": "positive regulation of relaxation of cardiac muscle", "id": "GO:1901899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901899", "evidence": [ { "database": "UniProtKB", "id": "P10645", "url": "https://www.uniprot.org/uniprot/P10645" } ], "pmid": "" }, { "name": "positive regulation of dense core granule biogenesis", "id": "GO:2000707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000707", "evidence": [ { "database": "UniProtKB", "id": "P10645", "url": "https://www.uniprot.org/uniprot/P10645" } ], "pmid": "" }, { "name": "protein localization to secretory granule", "id": "GO:0033366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033366", "evidence": [ { "database": "UniProtKB", "id": "P10645", "url": "https://www.uniprot.org/uniprot/P10645" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "chromogranin-A O-glycosylated 1 (human)", "definition": "A chromogranin-A (human) that has been O-glycosylated at the residue equivalent to Ser-191 of the amino acid sequence represented by UniProtKB:P10645-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P10645-1, Ser-191, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054761", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054761" } ] }, { "name": "chromogranin-A O-glycosylated 2 (human)", "definition": "A chromogranin-A (human) that has been O-glycosylated at the residue equivalent to Ser-48 of the amino acid sequence represented by UniProtKB:P10645-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P10645-1, Ser-48, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054762", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054762" } ] }, { "name": "chromogranin-A O-glycosylated 3 (human)", "definition": "A chromogranin-A (human) that has been O-glycosylated at the residue equivalent to Thr-181 of the amino acid sequence represented by UniProtKB:P10645-1, in which the glycan structure is represented by GlyTouCan:G00031MO. Example: UniProtKB:P10645-1, Thr-181, MOD:00005~GNO:G00031MO. [PRO:DNx, PMID:9852066]", "evidence": [ { "id": "PR:000054763", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054763" } ] }, { "name": "chromogranin-A O-glycosylated 4 (human)", "definition": "A chromogranin-A (human) that has been O-glycosylated at the residue equivalent to Thr-181 of the amino acid sequence represented by UniProtKB:P10645-1, in which the glycan structure is represented by GlyTouCan:G01614ZM. Example: UniProtKB:P10645-1, Thr-181, MOD:00005~GNO:G01614ZM. [PRO:DNx, PMID:9852066]", "evidence": [ { "id": "PR:000054764", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054764" } ] }, { "name": "chromogranin-A O-glycosylated 5 (human)", "definition": "A chromogranin-A (human) that has been O-glycosylated at the residue equivalent to Thr-181 of the amino acid sequence represented by UniProtKB:P10645-1, in which the glycan structure is represented by GlyTouCan:G65562ZE. Example: UniProtKB:P10645-1, Thr-181, MOD:00005~GNO:G65562ZE. [PRO:DNx, PMID:9852066]", "evidence": [ { "id": "PR:000054765", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054765" } ] }, { "name": "chromogranin-A O-glycosylated 6 (human)", "definition": "A chromogranin-A (human) that has been O-glycosylated at the residue equivalent to Thr-183 of the amino acid sequence represented by UniProtKB:P10645-1, in which the glycan structure is represented by GlyTouCan:G00031MO. Example: UniProtKB:P10645-1, Thr-183, MOD:00005~GNO:G00031MO. [PRO:DNx, PMID:9852066]", "evidence": [ { "id": "PR:000054766", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054766" } ] }, { "name": "chromogranin-A O-glycosylated 7 (human)", "definition": "A chromogranin-A (human) that has been O-glycosylated at the residue equivalent to Thr-183 of the amino acid sequence represented by UniProtKB:P10645-1, in which the glycan structure is represented by GlyTouCan:G01614ZM. Example: UniProtKB:P10645-1, Thr-183, MOD:00005~GNO:G01614ZM. [PRO:DNx, PMID:9852066]", "evidence": [ { "id": "PR:000054767", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054767" } ] }, { "name": "chromogranin-A O-glycosylated 8 (human)", "definition": "A chromogranin-A (human) that has been O-glycosylated at the residue equivalent to Thr-183 of the amino acid sequence represented by UniProtKB:P10645-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P10645-1, Thr-183, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054768", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054768" } ] }, { "name": "chromogranin-A O-glycosylated 9 (human)", "definition": "A chromogranin-A (human) that has been O-glycosylated at the residue equivalent to Thr-183 of the amino acid sequence represented by UniProtKB:P10645-1, in which the glycan structure is represented by GlyTouCan:G65562ZE. Example: UniProtKB:P10645-1, Thr-183, MOD:00005~GNO:G65562ZE. [PRO:DNx, PMID:9852066]", "evidence": [ { "id": "PR:000054769", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054769" } ] }, { "name": "chromogranin-A O-glycosylated 10 (human)", "definition": "A chromogranin-A (human) that has been O-glycosylated at the residue equivalent to Thr-251 of the amino acid sequence represented by UniProtKB:P10645-1, in which the glycan structure is represented by GlyTouCan:G00031MO. Example: UniProtKB:P10645-1, Thr-251, MOD:00005~GNO:G00031MO. [PRO:DNx, PMID:9852066]", "evidence": [ { "id": "PR:000054770", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054770" } ] }, { "name": "chromogranin-A O-glycosylated 11 (human)", "definition": "A chromogranin-A (human) that has been O-glycosylated at the residue equivalent to Thr-251 of the amino acid sequence represented by UniProtKB:P10645-1, in which the glycan structure is represented by GlyTouCan:G01614ZM. Example: UniProtKB:P10645-1, Thr-251, MOD:00005~GNO:G01614ZM. [PRO:DNx, PMID:9852066]", "evidence": [ { "id": "PR:000054771", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054771" } ] }, { "name": "chromogranin-A O-glycosylated 12 (human)", "definition": "A chromogranin-A (human) that has been O-glycosylated at the residue equivalent to Thr-251 of the amino acid sequence represented by UniProtKB:P10645-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P10645-1, Thr-251, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054772", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054772" } ] }, { "name": "chromogranin-A O-glycosylated 13 (human)", "definition": "A chromogranin-A (human) that has been O-glycosylated at the residue equivalent to Thr-251 of the amino acid sequence represented by UniProtKB:P10645-1, in which the glycan structure is represented by GlyTouCan:G65562ZE. Example: UniProtKB:P10645-1, Thr-251, MOD:00005~GNO:G65562ZE. [PRO:DNx, PMID:9852066]", "evidence": [ { "id": "PR:000054773", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054773" } ] } ], "site_annotation": [ { "start_pos": 110, "end_pos": 112, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "O-glycosylated with core 1 or possibly core 8 glycans (PubMed:9852066, PubMed:19838169, PubMed:23234360). Contains chondroitin sulfate (CS); CS attachment is pH-dependent, being observed at mildly acidic conditions of pH 5 but not at neutral pH, and promotes self-assembly in vitro (PubMed:25326458).", "evidence": [ { "database": "UniProtKB", "id": "P10645", "url": "https://www.uniprot.org/uniprot/P10645" }, { "database": "PubMed", "id": "19838169", "url": "https://glygen.org/publication/PubMed/19838169" }, { "database": "PubMed", "id": "9852066", "url": "https://glygen.org/publication/PubMed/9852066" }, { "database": "PubMed", "id": "23234360", "url": "https://glygen.org/publication/PubMed/23234360" }, { "database": "PubMed", "id": "25326458", "url": "https://glygen.org/publication/PubMed/25326458" } ] }, { "annotation": "Proteolytic processing gives rise to an additional longer form of catestatin (residues 358-390) which displays a less potent catecholamine release-inhibitory activity (PubMed:10781584). Plasmin-mediated proteolytic processing can give rise to additional shorter and longer forms of catestatin peptides (PubMed:17991725).", "evidence": [ { "database": "UniProtKB", "id": "P10645", "url": "https://www.uniprot.org/uniprot/P10645" }, { "database": "PubMed", "id": "17991725", "url": "https://glygen.org/publication/PubMed/17991725" }, { "database": "PubMed", "id": "10781584", "url": "https://glygen.org/publication/PubMed/10781584" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 48, 181, 183, 191, 251, 424 ], "snv_sites": [ 48, 181, 183, 191, 264, 270, 369 ], "glycation_sites": [], "phosphorylation_sites": [ 136, 142, 194, 203, 218, 270, 300, 322, 333, 371, 398, 402, 424, 438 ], "sequon_annotation_sites": [ { "start_pos": 110, "end_pos": 112 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 29 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 8 }, { "field": "o_linked_glycan_sites", "count": 9 } ], "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": 4 }, { "field": "total_sites", "count": 4 }, { "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": 4 } ], "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": 25 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 8 }, { "field": "o_linked_glycan_sites", "count": 5 } ], "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": 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_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": 14 }, { "field": "total_sites", "count": 14 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "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": 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": 7 }, { "field": "total_sites", "count": 6 } ], "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": 96 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }