{ "uniprot_canonical_ac": "P11216-1", "uniprot_ac": "P11216", "uniprot_id": "PYGB_HUMAN", "mass": { "chemical_mass": 96696.0, "monoisotopic_mass": 96696.0 }, "refseq": { "ac": "NP_002853", "name": "glycogen phosphorylase, brain form", "summary": "The protein encoded by this gene is a glycogen phosphorylase found predominantly in the brain. The encoded protein forms homodimers which can associate into homotetramers, the enzymatically active form of glycogen phosphorylase. The activity of this enzyme is positively regulated by AMP and negatively regulated by ATP, ADP, and glucose-6-phosphate. This enzyme catalyzes the rate-determining step in glycogen degradation. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002853" }, "gene_names": [ { "name": "PYGB", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P11216", "id": "P11216" }, { "name": "GPBB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002853", "id": "NP_002853" }, { "name": "PYGB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002853", "id": "NP_002853" } ], "protein_names": [ { "name": "Glycogen phosphorylase, brain form", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P11216" }, { "name": "2.4.1.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11216" }, { "name": "glycogen phosphorylase, brain form", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002853", "id": "NP_002853" }, { "name": "phosphorylase, glycogen; brain", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002853", "id": "NP_002853" } ], "function": [ { "annotation": "Allosteric enzyme that catalyzes the rate-limiting step in glycogen catabolism, the phosphorolytic cleavage of glycogen to produce glucose-1-phosphate, and plays a central role in maintaining cellular and organismal glucose homeostasis.", "evidence": [ { "database": "UniProtKB", "id": "H0Y4Z6", "url": "https://www.uniprot.org/uniprot/H0Y4Z6#function" }, { "database": "UniProtKB", "id": "RU000587", "url": "https://www.uniprot.org/uniprot/RU000587#function" } ] }, { "annotation": "Authors showed that PYGB was upregulated in ovarian cancer tissue and high level of PYGB expression is markedly correlated with poor prognosis of ovarian cancer patients. PYGB knockdown significantly suppressed ovarian cancer cell proliferation, invasion and migration.", "evidence": [ { "database": "RefSeq", "id": "NP_002853", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002853" }, { "database": "PubMed", "id": "31627092", "url": "https://glygen.org/publication/PubMed/31627092" } ] }, { "annotation": "Glycogen phosphorylase that regulates glycogen mobilization (PubMed:27402852). Phosphorylase is an important allosteric enzyme in carbohydrate metabolism (PubMed:3346228). Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates (PubMed:3346228). However, all known phosphorylases share catalytic and structural properties (PubMed:3346228).", "evidence": [ { "database": "UniProtKB", "id": "P11216", "url": "https://www.uniprot.org/uniprot/P11216#function" }, { "database": "PubMed", "id": "3346228", "url": "https://glygen.org/publication/PubMed/3346228" }, { "database": "PubMed", "id": "27402852", "url": "https://glygen.org/publication/PubMed/27402852" } ] }, { "annotation": "PYGB Promoted Tumor Progression by Regulating Wnt/beta-Catenin Pathway in Gastric Cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_002853", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002853" }, { "database": "PubMed", "id": "32462986", "url": "https://glygen.org/publication/PubMed/32462986" } ] }, { "annotation": "PYGB facilitates cell proliferation and invasiveness in non-small cell lung cancer by activating the Wnt-beta-catenin signaling pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_002853", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002853" }, { "database": "PubMed", "id": "32191839", "url": "https://glygen.org/publication/PubMed/32191839" } ] }, { "annotation": "The protein encoded by this gene is a glycogen phosphorylase found predominantly in the brain. The encoded protein forms homodimers which can associate into homotetramers, the enzymatically active form of glycogen phosphorylase. The activity of this enzyme is positively regulated by AMP and negatively regulated by ATP, ADP, and glucose-6-phosphate. This enzyme catalyzes the rate-determining step in glycogen degradation. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_002853", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002853" } ] }, { "annotation": "This method allows absolute quantitative measurement when conventional calibration curve fails to provide accurate estimation of cardiac biomarkers, especially at low and high concentration ranges. Under an optimised condition, the LOD of our SERS-based muPAD was identified at 8, 10, and 1pgmL(-1), for GPBB, CK-MB and cTnT, respectively, which is well below the clinical cutoff values.", "evidence": [ { "database": "RefSeq", "id": "NP_002853", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002853" }, { "database": "PubMed", "id": "31678828", "url": "https://glygen.org/publication/PubMed/31678828" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "P11216", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P11216" } ], "glycoeffect": [], "start_pos": 94, "end_pos": 94, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4).", "chr_id": "20", "chr_pos": "25259274", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R94", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the 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"id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P11216", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11216" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P11216", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11216" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P11216", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11216" } ], "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": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P11216", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11216" } ], "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": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "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": "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": "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 cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P11216", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11216" } ], "disease": [ { "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 dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P11216", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11216" } ], "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", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P11216", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11216" } ], "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": "P11216", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11216" } ], "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", "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 neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P11216", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11216" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, 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"categories": [ "Protein Classification" ] }, { "id": "5473321at2759", "url": "http://www.orthodb.org/?query=5473321at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11468", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11468", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11468:SF29", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11468:SF29", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "5IKO", "url": "https://www.rcsb.org/structure/5IKO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5IKP", "url": "https://www.rcsb.org/structure/5IKP", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00343", "url": "http://pfam.xfam.org/family/PF00343", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P11216", "url": "https://pharos.nih.gov/targets/P11216", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P11216", "url": "http://purl.obolibrary.org/obo/PR_P11216", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_002853", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002853", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "41732", "url": "https://www.rhea-db.org/rhea/41732", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "H0Y4Z6", "url": "https://www.uniprot.org/uniprot/H0Y4Z6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y4Z6-1", "url": "https://www.uniprot.org/uniprot/H0Y4Z6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11216", "url": "https://www.uniprot.org/uniprot/P11216", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11216-1", "url": "https://www.uniprot.org/uniprot/P11216-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAKPLTDSEKRKQISVRGLAGLGDVAEVRKSFNRHLHFTLVKDRNVATPRDYFFALAHTVRDHLVGRWIRTQQHYYERDPKRIYYLSLEFYMGRTLQNTMVNLGLQNACDEAIYQLGLDLEELEEIEEDAGLGNGGLGRLAACFLDSMATLGLAAYGYGIRYEFGIFNQKIVNGWQVEEADDWLRYGNPWEKARPEYMLPVHFYGRVEHTPDGVKWLDTQVVLAMPYDTPVPGYKNNTVNTMRLWSAKAPNDFKLQDFNVGDYIEAVLDRNLAENISRVLYPNDNFFEGKELRLKQEYFVVAATLQDIIRRFKSSKFGCRDPVRTCFETFPDKVAIQLNDTHPALSIPELMRILVDVEKVDWDKAWEITKKTCAYTNHTVLPEALERWPVSMFEKLLPRHLEIIYAINQRHLDHVAALFPGDVDRLRRMSVIEEGDCKRINMAHLCVIGSHAVNGVARIHSEIVKQSVFKDFYELEPEKFQNKTNGITPRRWLLLCNPGLADTIVEKIGEEFLTDLSQLKKLLPLVSDEVFIRDVAKVKQENKLKFSAFLEKEYKVKINPSSMFDVHVKRIHEYKRQLLNCLHVVTLYNRIKRDPAKAFVPRTVMIGGKAAPGYHMAKLIIKLVTSIGDVVNHDPVVGDRLKVIFLENYRVSLAEKVIPAADLSQQISTAGTEASGTGNMKFMLNGALTIGTMDGANVEMAEEAGAENLFIFGLRVEDVEALDRKGYNAREYYDHLPELKQAVDQISSGFFSPKEPDCFKDIVNMLMHHDRFKVFADYEAYMQCQAQVDQLYRNPKEWTKKVIRNIACSGKFSSDRTITEYAREIWGVEPSDLQIPPPNIPRD", "length": 843, "header": "sp|P11216-1|PYGB_HUMAN Isoform 1 of Glycogen phosphorylase, brain form OS=Homo sapiens OX=9606 GN=PYGB PE=1 SV=5 CANONICAL=P11216-1" }, "isoforms": [ { "isoform_ac": "H0Y4Z6-1", "url": "", "sequence": { "sequence": "XKHHHTVPPSVTPKALDRSPPCPEMFTRAAPGYHMAKLIIKLVTSIGDVVNHDPVVGDRLKVIFLENYRVSLAEKVIPAADLSQQISTAGTEASGTGNMKFMLNGALTIGTMDGANVEMAEEAGAENLFIFGLRVEDVEALDRKGYNAREYYDHLPELKQAVDQISSGFFSPKEPDCFKDIVNMLMHHDRFKVFADYEAYMQCQAQVDQLYRNPKEWTKKVIRNIACSGKFSSDRTITEYAREIW", "length": 245, "header": "tr|H0Y4Z6-1|H0Y4Z6_HUMAN Computationally mapped isoform of Alpha-1,4 glucan phosphorylase OS=Homo sapiens OX=9606 GN=PYGB PE=1 SV=1 CANONICAL=P11216-1" }, "locus": { "chromosome": "20", "start_pos": 25296468, "end_pos": 25289848, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000428458.1", "url": "https://www.ensembl.org/id/ENST00000428458.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000395451.1", "url": "https://www.ensembl.org/id/ENSP00000395451.1" } ] } }, { "isoform_ac": "P11216-1", "url": "", "sequence": { "sequence": "MAKPLTDSEKRKQISVRGLAGLGDVAEVRKSFNRHLHFTLVKDRNVATPRDYFFALAHTVRDHLVGRWIRTQQHYYERDPKRIYYLSLEFYMGRTLQNTMVNLGLQNACDEAIYQLGLDLEELEEIEEDAGLGNGGLGRLAACFLDSMATLGLAAYGYGIRYEFGIFNQKIVNGWQVEEADDWLRYGNPWEKARPEYMLPVHFYGRVEHTPDGVKWLDTQVVLAMPYDTPVPGYKNNTVNTMRLWSAKAPNDFKLQDFNVGDYIEAVLDRNLAENISRVLYPNDNFFEGKELRLKQEYFVVAATLQDIIRRFKSSKFGCRDPVRTCFETFPDKVAIQLNDTHPALSIPELMRILVDVEKVDWDKAWEITKKTCAYTNHTVLPEALERWPVSMFEKLLPRHLEIIYAINQRHLDHVAALFPGDVDRLRRMSVIEEGDCKRINMAHLCVIGSHAVNGVARIHSEIVKQSVFKDFYELEPEKFQNKTNGITPRRWLLLCNPGLADTIVEKIGEEFLTDLSQLKKLLPLVSDEVFIRDVAKVKQENKLKFSAFLEKEYKVKINPSSMFDVHVKRIHEYKRQLLNCLHVVTLYNRIKRDPAKAFVPRTVMIGGKAAPGYHMAKLIIKLVTSIGDVVNHDPVVGDRLKVIFLENYRVSLAEKVIPAADLSQQISTAGTEASGTGNMKFMLNGALTIGTMDGANVEMAEEAGAENLFIFGLRVEDVEALDRKGYNAREYYDHLPELKQAVDQISSGFFSPKEPDCFKDIVNMLMHHDRFKVFADYEAYMQCQAQVDQLYRNPKEWTKKVIRNIACSGKFSSDRTITEYAREIWGVEPSDLQIPPPNIPRD", "length": 843, "header": "sp|P11216-1|PYGB_HUMAN Isoform 1 of Glycogen phosphorylase, brain form OS=Homo sapiens OX=9606 GN=PYGB PE=1 SV=5 CANONICAL=P11216-1" }, "locus": { "chromosome": "20", "start_pos": 25296519, "end_pos": 25248179, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000216962.9", "url": "https://www.ensembl.org/id/ENST00000216962.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000216962.3", "url": "https://www.ensembl.org/id/ENSP00000216962.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P11216", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11216" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "26853435", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26853435" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" } ] } ], "phosphorylation": [ { "start_pos": 15, "end_pos": 15, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by PHK; in form phosphorylase A", "evidence": [ { "database": "UniProtKB", "id": "P11216", "url": "https://www.uniprot.org/uniprot/P11216" }, { "database": "iPTMnet", "id": "P11216", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11216" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "phospho.ELM", "id": "P11216", "url": "http://phospho.elm.eu.org/byAccession/P11216.html" }, { "database": "PubMed", "id": "9362479", "url": "https://glygen.org/publication/PubMed/9362479" } ], "site_lbl": "Ser15" }, { "start_pos": 162, "end_pos": 162, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11216", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11216" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Tyr162" }, { "start_pos": 197, "end_pos": 197, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "P11216", "url": "https://www.uniprot.org/uniprot/P11216" }, { "database": "iPTMnet", "id": "P11216", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11216" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "phospho.ELM", "id": "P11216", "url": "http://phospho.elm.eu.org/byAccession/P11216.html" } ], "site_lbl": "Tyr197" }, { "start_pos": 473, "end_pos": 473, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "P11216", "url": "https://www.uniprot.org/uniprot/P11216" } ], "site_lbl": "Tyr473" }, { "start_pos": 562, "end_pos": 562, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11216", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11216" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser562" }, { "start_pos": 6, "end_pos": 6, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11216", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11216" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr6" }, { "start_pos": 76, "end_pos": 76, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11216", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11216" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "phospho.ELM", "id": "P11216", "url": "http://phospho.elm.eu.org/byAccession/P11216.html" } ], "site_lbl": "Tyr76" } ], "glycation": [], "keywords": [ "enzyme", "glycosyltransferase-activity", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure.", "journal": "Frontiers in bioscience : a journal and virtual library", "date": "1999", "authors": "Brushia RJ, Walsh DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "10487978", "url": "https://glygen.org/publication/PubMed/10487978" } ] }, { "title": "Activation of human liver glycogen phosphorylase by alteration of the secondary structure and packing of the catalytic core.", "journal": "Molecular cell", "date": "2000", "authors": "Rath VL, Ammirati M, LeMotte PK, Fennell KF, Mansour MN, Danley DE, Hynes TR, Schulte GK, Wasilko DJ, Pandit J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "10949035", "url": "https://glygen.org/publication/PubMed/10949035" } ] }, { "title": "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.", "journal": "Nat. Biotechnol.", "date": "2003", "authors": "Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J", "evidence": [ { "database": "UniProtKB", "id": "P11216", "url": "https://www.uniprot.org/uniprot/P11216" } ], "reference": [ { "type": "PubMed", "id": "12665801", "url": "https://glygen.org/publication/PubMed/12665801" } ] }, { "title": "Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.", "journal": "European journal of human genetics : EJHG", "date": "2003", "authors": "Burwinkel B, Hu B, Schroers A, Clemens PR, Moses SW, Shin YS, Pongratz D, Vorgerd M, Kilimann MW", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "12825073", "url": "https://glygen.org/publication/PubMed/12825073" } ] }, { "title": "Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene.", "journal": "Pediatric research", "date": "2003", "authors": "Burwinkel B, Rootwelt T, Kvittingen EA, Chakraborty PK, Kilimann MW", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "12930917", "url": "https://glygen.org/publication/PubMed/12930917" } ] }, { "title": "Enzymic conversion of phosphorylase a to phosphorylase b.", "journal": "Biochimica et biophysica acta", "date": "1953", "authors": "KELLER PJ, CORI GT", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "13115432", "url": "https://glygen.org/publication/PubMed/13115432" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P11216", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11216" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer.", "journal": "Cell", "date": "2007", "authors": "Rikova K, Guo A, Zeng Q, Possemato A, Yu J, Haack H, Nardone J, Lee K, Reeves C, Li Y, Hu Y, Tan Z, Stokes M, Sullivan L, Mitchell J, Wetzel R, Macneill J, Ren JM, Yuan J, Bakalarski CE, Villen J, Kornhauser JM, Smith B, Li D, Zhou X, Gygi SP, Gu TL, Polakiewicz RD, Rush J, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "P11216", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11216" } ], "reference": [ { "type": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P11216", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11216" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Specific functions of lysosomal proteases in endocytic and autophagic pathways.", "journal": "Biochimica et biophysica acta", "date": "2012", "authors": "Muller S, Dennemarker J, Reinheckel T", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "21767668", "url": "https://glygen.org/publication/PubMed/21767668" } ] }, { "title": "Proteome profiling of human neutrophil granule subsets, secretory vesicles, and cell membrane: correlation with transcriptome profiling of neutrophil precursors.", "journal": "Journal of leukocyte biology", "date": "2013", "authors": "Rorvig S, Ostergaard O, Heegaard NH, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "23650620", "url": "https://glygen.org/publication/PubMed/23650620" } ] }, { "title": "Human brain glycogen phosphorylase: characterization of fetal cDNA and genomic sequences.", "journal": "Brain Res. Mol. Brain Res.", "date": "1989", "authors": "Gelinas RP, Froman BE, McElroy F, Tait RC, Gorin FA", "evidence": [ { "database": "UniProtKB", "id": "P11216", "url": "https://www.uniprot.org/uniprot/P11216" } ], "reference": [ { "type": "PubMed", "id": "2615594", "url": "https://glygen.org/publication/PubMed/2615594" } ] }, { "title": "The family of glycogen phosphorylases: structure and function.", "journal": "Critical reviews in biochemistry and molecular biology", "date": "1989", "authors": "Newgard CB, Hwang PK, Fletterick RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "2667896", "url": "https://glygen.org/publication/PubMed/2667896" } ] }, { "title": "Comparative analysis of Cu (I)-catalyzed alkyne-azide cycloaddition (CuAAC) and strain-promoted alkyne-azide cycloaddition (SPAAC) in O-GlcNAc proteomics.", "journal": "Electrophoresis", "date": "2016", "authors": "Li S, Zhu H, Wang J, Wang X, Li X, Ma C, Wen L, Yu B, Wang Y, Li J, Wang PG", "evidence": [ { "database": "O-GlcNAc Database", "id": "P11216", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11216" } ], "reference": [ { "type": "PubMed", "id": "26853435", "url": "https://glygen.org/publication/PubMed/26853435" } ] }, { "title": "Insights into Brain Glycogen Metabolism: THE STRUCTURE OF HUMAN BRAIN GLYCOGEN PHOSPHORYLASE.", "journal": "The Journal of biological chemistry", "date": "2016", "authors": "Mathieu C, Li de la Sierra-Gallay I, Duval R, Xu X, Cocaign A, Leger T, Woffendin G, Camadro JM, Etchebest C, Haouz A, Dupret JM, Rodrigues-Lima F", "evidence": [ { "database": "UniProtKB", "id": "P11216", "url": "https://www.uniprot.org/uniprot/P11216" } ], "reference": [ { "type": "PubMed", "id": "27402852", "url": "https://glygen.org/publication/PubMed/27402852" } ] }, { "title": "Glycogen debranching enzyme: purification, antibody characterization, and immunoblot analyses of type III glycogen storage disease.", "journal": "American journal of human genetics", "date": "1987", "authors": "Chen YT, He JK, Ding JH, Brown BI", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "2961257", "url": "https://glygen.org/publication/PubMed/2961257" } ] }, { "title": "Combinatorial regulation of hepatic cytoplasmic signaling and nuclear transcriptional events by the OGT/REV-ERBalpha complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018", "authors": "Berthier A, Vinod M, Porez G, Steenackers A, Alexandre J, Yamakawa N, Gheeraert C, Ploton M, Marechal X, Dubois-Chevalier J, Hovasse A, Schaeffer-Reiss C, Cianferani S, Rolando C, Bray F, Duez H, Eeckhoute J, Lefebvre T, Staels B, Lefebvre P", "evidence": [ { "database": "O-GlcNAc Database", "id": "P11216", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11216" } ], "reference": [ { "type": "PubMed", "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "title": "Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex.", "journal": "The EMBO journal", "date": "1988", "authors": "Hoefsloot LH, Hoogeveen-Westerveld M, Kroos MA, van Beeumen J, Reuser AJ, Oostra BA", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "3049072", "url": "https://glygen.org/publication/PubMed/3049072" } ] }, { "title": "Glycogen phosphorylase B promotes ovarian cancer progression via Wnt/beta-catenin signaling and is regulated by miR-133a-3p.", "journal": "Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie", "date": "2019", "authors": "Zhou Y, Jin Z, Wang C", "evidence": [ { "database": "RefSeq", "id": "NP_002853", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002853" } ], "reference": [ { "type": "PubMed", "id": "31627092", "url": "https://glygen.org/publication/PubMed/31627092" } ] }, { "title": "Using SERS-based microfluidic paper-based device (muPAD) for calibration-free quantitative measurement of AMI cardiac biomarkers.", "journal": "Biosensors & bioelectronics", "date": "2020", "authors": "Lim WY, Goh CH, Thevarajah TM, Goh BT, Khor SM", "evidence": [ { "database": "RefSeq", "id": "NP_002853", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002853" } ], "reference": [ { "type": "PubMed", "id": "31678828", "url": "https://glygen.org/publication/PubMed/31678828" } ] }, { "title": "PYGB facilitates cell proliferation and invasiveness in non-small cell lung cancer by activating the Wnt-beta-catenin signaling pathway.", "journal": "Biochemistry and cell biology = Biochimie et biologie cellulaire", "date": "2020", "authors": "Xiao L, Wang W, Huangfu Q, Tao H, Zhang J", "evidence": [ { "database": "RefSeq", "id": "NP_002853", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002853" } ], "reference": [ { "type": "PubMed", "id": "32191839", "url": "https://glygen.org/publication/PubMed/32191839" } ] }, { "title": "PYGB Promoted Tumor Progression by Regulating Wnt/beta-Catenin Pathway in Gastric Cancer.", "journal": "Technology in cancer research & treatment", "date": "2020", "authors": "Xia B, Zhang K, Liu C", "evidence": [ { "database": "RefSeq", "id": "NP_002853", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002853" } ], "reference": [ { "type": "PubMed", "id": "32462986", "url": "https://glygen.org/publication/PubMed/32462986" } ] }, { "title": "Human brain glycogen phosphorylase. Cloning, sequence analysis, chromosomal mapping, tissue expression, and comparison with the human liver and muscle isozymes.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Newgard CB, Littman DR, van Genderen C, Smith M, Fletterick RJ", "evidence": [ { "database": "UniProtKB", "id": "P11216", "url": "https://www.uniprot.org/uniprot/P11216" } ], "reference": [ { "type": "PubMed", "id": "3346228", "url": "https://glygen.org/publication/PubMed/3346228" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P11216", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11216" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Synthesis of Na2S2O4 mediated cleavable affinity tag for labeling of O-GlcNAc modified proteins via azide-alkyne cycloaddition.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2021", "authors": "Wang J, Dou B, Zheng L, Cao W, Zeng X, Wen Y, Ma J, Li X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P11216", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11216" } ], "reference": [ { "type": "PubMed", "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P11216", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11216" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P11216", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11216" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "A kinetic study of the isozymes determined by the three human phosphoglucomutase loci PGM1, PGM2, and PGM3.", "journal": "European journal of biochemistry", "date": "1974", "authors": "Quick CB, Fisher RA, Harris H", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "4829444", "url": "https://glygen.org/publication/PubMed/4829444" } ] }, { "title": "Simultaneous absence of alpha-1,4-glucosidase and alpha-1,6-glucosidase activities (pH 4) in tissues of children with type II glycogen storage disease.", "journal": "Biochemistry", "date": "1970", "authors": "Brown BI, Brown DH, Jeffrey PL", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "5264799", "url": "https://glygen.org/publication/PubMed/5264799" } ] }, { "title": "Correlation between subunit interactions and enzymatic activity of phosphorylase a. Method for determining equilibrium constants from initial rate measurements.", "journal": "Biochemistry", "date": "1970", "authors": "Huang CY, Graves DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "5461220", "url": "https://glygen.org/publication/PubMed/5461220" } ] }, { "title": "X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.", "journal": "American journal of human genetics", "date": "1995", "authors": "van den Berg IE, van Beurden EA, Malingre HE, van Amstel HK, Poll-The BT, Smeitink JA, Lamers WH, Berger R", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "7847371", "url": "https://glygen.org/publication/PubMed/7847371" } ] }, { "title": "The classical human phosphoglucomutase (PGM1) isozyme polymorphism is generated by intragenic recombination.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1993", "authors": "March RE, Putt W, Hollyoake M, Ives JH, Lovegrove JU, Hopkinson DA, Edwards YH, Whitehouse DB", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "7902568", "url": "https://glygen.org/publication/PubMed/7902568" } ] }, { "title": "Structural and functional changes of lysosomal acid alpha-glucosidase during intracellular transport and maturation.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Wisselaar HA, Kroos MA, Hermans MM, van Beeumen J, Reuser AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": 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YT", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "8755644", "url": "https://glygen.org/publication/PubMed/8755644" } ] }, { "title": "Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.", "journal": "Nature genetics", "date": "1996", "authors": "Maichele AJ, Burwinkel B, Maire I, Sovik O, Kilimann MW", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "8896567", "url": "https://glygen.org/publication/PubMed/8896567" } ] }, { "title": "The crystal structure of a phosphorylase kinase peptide substrate complex: kinase substrate recognition.", "journal": "The EMBO journal", "date": "1997", "authors": "Lowe ED, Noble ME, Skamnaki VT, Oikonomakos NG, Owen DJ, Johnson LN", "evidence": [ { "database": "iPTMnet", "id": "P11216", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11216" } ], "reference": [ { "type": "PubMed", "id": "9362479", "url": "https://glygen.org/publication/PubMed/9362479" } ] }, { "title": "Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.", "journal": "The Journal of clinical investigation", "date": "1998", "authors": "Orho M, Bosshard NU, Buist NR, Gitzelmann R, Aynsley-Green A, Blumel P, Gannon MC, Nuttall FQ, Groop LC", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "9691087", "url": "https://glygen.org/publication/PubMed/9691087" } ] } ], "pathway": [ { "id": "hsa:5834", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5834", "resource": "KEGG Pathway" }, { "id": "R-HSA-6798695", 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"url": "https://omabrowser.org/oma/group/P11216/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9XTL9-1", "protein_name": "Glycogen phosphorylase", "gene_name": "Glyp", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MSKPQSDADRRKQISVRGIAEVGNVTEVKKNFNRHLHYTLVKDRNVSTLRDYYFALANTVKDNMVGRWIRTQQHYYEKDPKRVYYLSLEYYMGRSLTNTMINLGIQSECEEAMYQLGLDIENLEEMEEDAGLGNGGLGRLAACFLDSMATLGLAAYGYGIRYEYGIFAQKIKNGEQVEEPDDWLRYGNPWEKARPEFMLPVNFYGRVIDTPEGKKWVDTQRVFAMPYDNPIPGYNNNHVNTLRLWSAKSPIDFNLKFFNDGDYIQAVLDRNLAENISRVLYPNDNFFEGKELRLKQEYFMCAATLQDIIRRYKASKFGSREAVRNTFDHFPDKVAIQLNDTHPSLAIPELMRILVDEEHLTWEKAWDITVRSCAYTNHTVLPEALERWPVSLLESILPRHLQIIYHINFLHMENVKKKFPDDLDRMRRMSMVEEDGEKRINMAHLSIVGSHAVNGVAAIHSQILKDSLFHDFYEMEPQKFQNKTNGITPRRWLLLCNPGLSDLIAEKIGDEWPVHLDQLVALKKWAKDPNFQRNVARVKQENKLKLAAILEKDYGVKINPSSMFDIQVKRIHEYKRQLLNCLHIITLYNRIKKDPTANFTPRTIMIGGKAAPGYYVAKQIIKLICAVGNVVNNDPIVGDKLKVIFLENYRVTLAEKIMPAADLSEQISTAGTEASGTGNMKFQLNGALTIGTLDGANVEMAEEMGLDNIFIFGMTVDEVEALKKKGYNAYDYYNANPEVKQVIDQIQGGFFSPGNPNEFKNIADILLKYDHYYLLADYDAYIKAQDLVSKTYQNQAKWLEMSINNIASSGKFSSDRTIAEYAREIWGVEPTWEKLPAPEDQPQN", "length": 844 }, "evidence": [ { "id": "P11216", "url": "https://omabrowser.org/oma/group/P11216/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P11216", "url": "https://www.uniprot.org/uniprot/P11216" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P11216", "url": "https://www.uniprot.org/uniprot/P11216" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P11216", "url": "https://www.uniprot.org/uniprot/P11216" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P11216", "url": "https://www.uniprot.org/uniprot/P11216" } ], "pmid": "" }, { "name": "azurophil granule lumen", "id": "GO:0035578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035578", "evidence": [ { "database": "UniProtKB", "id": "P11216", "url": "https://www.uniprot.org/uniprot/P11216" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "pyridoxal phosphate binding", "id": "GO:0030170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030170", "evidence": [ { "database": "UniProtKB", "id": "P11216", "url": "https://www.uniprot.org/uniprot/P11216" } ], "pmid": "" }, { "name": "glycogen phosphorylase activity", "id": "GO:0008184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008184", "evidence": [ { "database": "UniProtKB", "id": "P11216", "url": "https://www.uniprot.org/uniprot/P11216" } ], "pmid": "" }, { "name": "linear malto-oligosaccharide phosphorylase activity", "id": "GO:0102250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0102250", "evidence": [ { "database": "UniProtKB", "id": "P11216", "url": "https://www.uniprot.org/uniprot/P11216" } ], "pmid": "" }, { "name": "SHG alpha-glucan phosphorylase activity", "id": "GO:0102499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0102499", "evidence": [ { "database": "UniProtKB", "id": "P11216", "url": "https://www.uniprot.org/uniprot/P11216" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "glycogen catabolic process", "id": "GO:0005980", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005980", "evidence": [ { "database": "UniProtKB", "id": "P11216", "url": "https://www.uniprot.org/uniprot/P11216" } ], "pmid": "" }, { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "P11216", "url": "https://www.uniprot.org/uniprot/P11216" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 236, "end_pos": 238, "annotation": "n_glycosylation_sequon" }, { "start_pos": 275, "end_pos": 277, "annotation": "n_glycosylation_sequon" }, { "start_pos": 339, "end_pos": 341, "annotation": "n_glycosylation_sequon" }, { "start_pos": 377, "end_pos": 379, "annotation": "n_glycosylation_sequon" }, { "start_pos": 482, "end_pos": 484, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Phosphorylated (PubMed:27402852). Phosphorylation of Ser-15 converts phosphorylase B (unphosphorylated) to phosphorylase A (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P11216", "url": "https://www.uniprot.org/uniprot/P11216" }, { "database": "PubMed", "id": "27402852", "url": "https://glygen.org/publication/PubMed/27402852" } ] } ], "interactions": [], "reactions": [ { "id": "41732", "name": "", "equation": "[(1->4)-alpha-D-glucosyl](n) + phosphate = [(1->4)-alpha-D-glucosyl](n-1) + alpha-D-glucose 1-phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P53534-1", "P09811-1", "P09812-1", "P11216-1", "P06737-1", "P11217-1", "Q8CI94-1", "Q9WUB3-1", "Q9ET01-1", "P06738-1", "P34114-1", "Q00766-1", "Q9XTL9-1" ], "evidence": [ { "id": "41732", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/41732" } ] }, { "id": "R-HSA-453337", "name": "glycogen phosphorylase (PYGB) dimer b + 2 ATP => glycogen phosphorylase (PYGB) dimer a + 2 ADP", "equation": "", "summary": "The phosphorylation of glycogen phosphorylase PYGB by the widely expressed form of the phosphorylase kinase complex is inferred from its activity on PGYM (Newgard et al. 1989).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q16816-1", "P11216-1" ], "evidence": [ { "id": "R-HSA-453337", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-453337" } ] }, { "id": "R-HSA-453346", "name": "PYGB b dimer:AMP complex <=> PGYB dimer, b form + 2 AMP", "equation": "", "summary": "Cytosolic, non-phosphorylated PGYB dimers (b form) complexed with AMP can reversibly dissociate. This reaction is inferred from the AMP-binding properties of the closely homologous PGYM complex (Rath et al. 2000).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P11216-1" ], "evidence": [ { "id": "R-HSA-453346", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-453346" } ] }, { "id": "R-HSA-453356", "name": "PYGB dimer, b form + 2 AMP <=> PYGB b dimer:AMP complex", "equation": "", "summary": "Cytosolic, non-phosphorylated PGYB dimers (b form) can reversibly bind AMP. This reaction is inferred from the AMP-binding properties of human PGYL and closely homologous PGYM proteins from other species (Newgard et al. 1989; Rath et al. 2000).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P11216-1" ], "evidence": [ { "id": "R-HSA-453356", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-453356" } ] }, { "id": "R-HSA-453358", "name": "poly((1,4)-alpha-glycosyl) glycogenin-1 + n orthophosphate => glycogenin-1 + n D-glucose 1-phosphate [PYGM,PYGB]", "equation": "", "summary": "The PYGM and PYGB forms of glycogen phosphorylase catalyze the reaction of orthophosphate and poly((1,4) alpha glucosyl) glycogenin-1 to form D-glucose 1-phosphate and glycogenin-1. This reaction occurs on the surfaces of cytosolic glycogen granules. The phosphorylated forms of PYGM and PYGB dimers (a form) are catalytically active; the non-phosphorylated dimers (b form) become active when complexed with AMP. In the body, this reaction takes place in tissues other than the liver where its sensitivity to AMP allows glucose mobilization in response to acute energy needs of the individual cell, and hormonally mediated phosphorylation can stimulate increased glucose production, still for use by the individual producing cell, in response to stress signals. These reactions have not been characterized in detail but are inferred to occur from the very close similarity among PGYM, PGYB, and PGYL (Newgard et al. 1989; Rath et al. 2000).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P11217-1", "P11216-1", "P46976-1" ], "evidence": [ { "id": "R-HSA-453358", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-453358" } ] }, { "id": "R-HSA-6798751", "name": "Exocytosis of azurophil granule lumen proteins", "equation": "", "summary": "Azurophil or primary granules were originally defined by their high content of myeloperoxidase (MPO) and their affinity for the basic dye azure A (Spicer & Hardin 1969). Azurophil granules are generally described as spherical. Like lysosomes, they contain CD63 in their membrane (Cham et al. 1994) but are regarded as specialized secretory granules rather than lysosomes (Cieutat et al. 1998). Azurophil granules undergo limited exocytosis in response to stimulation (Sengelov et al. 1993, Faurschou et al. 2002), their primary role is believed to be killing and degradation of engulfed microbes in the phagolysosome (Joiner et al. 1989).; ; MPO reacts with H2O2 formed by NADPH oxidase, increasing its toxicity by formation of hypochlorous acid and other chlorination products, tyrosine radicals and reactive nitrogen intermediates which attack the surface of microbes (Klebanoff et al. 2013).;", "cellular_location": "extracellular region, azurophil granule lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q05655-1", "P07686-1", "P12724-1", "P04066-1", "Q92820-1", "Q6XQN6-1", "Q99536-1", "Q9BRF8-1", "Q9UHL4-1", "P08246-1", "P34059-1", "P15586-1", "P24158-1", "Q9Y2J8-1", "P10619-1", "O00584-1", "P53396-1", "P55072-1", "P06280-1", "P28482-1", "Q9NZK5-1", "P20933-1", "P05089-1", "P15289-1", "P15848-1", "P16278-1", "Q9H7Z7-1", "P53634-1", "P08311-1", "Q9BTY2-1", "P00387-1", "P30041-1", "P05164-1", "Q8NBS9-1", "P11216-1", "P10153-1", "P61626-1", "P08236-1", "P42685-1", "P07478-1", "O00754-1", "P20839-1" ], "evidence": [ { "id": "R-HSA-6798751", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798751" } ] }, { "id": "R-HSA-71515", "name": "glycogen-glycogenin-1 + n orthophosphate => limit dextrin-glycogenin-1 + n D-glucose 1-phosphate [PYGM,PYGB]", "equation": "", "summary": "The PYGM and PYGB forms of glycogen phosphorylase catalyze the reaction of orthophosphate and glycogen-glycogenin 1 to form D-glucose 1-phosphate and limit dextrin-glycogenin 1. This reaction occurs on the surfaces of cytosolic glycogen granules. The phosphorylated forms of PYGM and PYGB dimers (a form) are catalytically active; the non-phosphorylated dimers (b form) become active when complexed with AMP. In the body, this reaction takes place in tissues other than the liver where its sensitivity to AMP allows glucose mobilization in response to acute energy needs of the individual cell, and hormonally mediated phosphorylation can stimulate increased glucose production, still for use by the individual producing cell, in response to stress signals. These reactions have not been characterized in detail but are inferred to occur from the very close similarity among PGYM, PGYB, and PGYL (Newgard et al. 1989; Rath et al. 2000).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P11217-1", "P11216-1", "P46976-1" ], "evidence": [ { "id": "R-HSA-71515", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71515" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "O00584", "gene_name": "RNASET2", "activity": [ { "ec_number": "4.6.1.19", "activity": "a ribonucleotidyl-ribonucleotide-RNA + H2O = a 3'-end 3'-phospho-ribonucleotide-RNA + a 5'-end dephospho-ribonucleoside-RNA + H(+).", "evidence": [ { "id": "O00584", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00584" } ] }, { "ec_number": "4.6.1.19", "activity": "", "evidence": [ { "id": "O00584", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00584" } ] } ] }, { "uniprot_ac": "O00754", "gene_name": "MAN2B1", "activity": [ { "ec_number": "3.2.1.24", "activity": "Hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides.", "evidence": [ { "id": "O00754", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00754" } ] }, { "ec_number": "3.2.1.24", "activity": "", "evidence": [ { "id": "O00754", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00754" } ] } ] }, { "uniprot_ac": "P00387", "gene_name": "CYB5R3", "activity": [ { "ec_number": "1.6.2.2", "activity": "2 Fe(III)-[cytochrome b5] + NADH = 2 Fe(II)-[cytochrome b5] + H(+) + NAD(+).", "evidence": [ { "id": "P00387", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00387" } ] }, { "ec_number": "1.6.2.2", "activity": "", "evidence": [ { "id": "P00387", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00387" } ] } ] }, { "uniprot_ac": "P04066", "gene_name": "FUCA1", "activity": [ { "ec_number": "3.2.1.51", "activity": "an alpha-L-fucoside + H2O = an alcohol + L-fucose.", "evidence": [ { "id": "P04066", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04066" } ] }, { "ec_number": "3.2.1.51", "activity": "", "evidence": [ { "id": "P04066", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04066" } ] } ] }, { "uniprot_ac": "P05089", "gene_name": "ARG1", "activity": [ { "ec_number": "3.5.3.1", "activity": "H2O + L-arginine = L-ornithine + urea.", "evidence": [ { "id": "P05089", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05089" } ] }, { "ec_number": "3.5.3.1", "activity": "", "evidence": [ { "id": "P05089", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05089" } ] } ] }, { "uniprot_ac": "P05164", "gene_name": "MPO", "activity": [ { "ec_number": "1.11.2.2", "activity": "chloride + H(+) + H2O2 = H2O + hypochlorous acid.", "evidence": [ { "id": "P05164", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05164" } ] }, { "ec_number": "1.11.2.2", "activity": "", "evidence": [ { "id": "P05164", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05164" } ] } ] }, { "uniprot_ac": "P06280", "gene_name": "GLA", "activity": [ { "ec_number": "3.2.1.-", "activity": "", "evidence": [ { "id": "P06280", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06280" } ] }, { "ec_number": "3.2.1.22", "activity": "a globoside Gb3Cer (d18:1(4E)) + H2O = a beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + D-galactose.", "evidence": [ { "id": "P06280", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06280" } ] }, { "ec_number": "3.2.1.22", "activity": "", "evidence": [ { "id": "P06280", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06280" } ] } ] }, { "uniprot_ac": "P06737", "gene_name": "PYGL", "activity": [ { "ec_number": "2.4.1.1", "activity": "[(1->4)-alpha-D-glucosyl](n) + phosphate = [(1->4)-alpha-D-glucosyl](n-1) + alpha-D-glucose 1-phosphate.", "evidence": [ { "id": "P06737", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06737" } ] }, { "ec_number": "2.4.1.1", "activity": "", "evidence": [ { "id": "P06737", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06737" } ] } ] }, { "uniprot_ac": "P06738", "gene_name": "GPH1", "activity": [ { "ec_number": "2.4.1.1", "activity": "[(1->4)-alpha-D-glucosyl](n) + phosphate = [(1->4)-alpha-D-glucosyl](n-1) + alpha-D-glucose 1-phosphate.", "evidence": [ { "id": "P06738", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06738" } ] }, { "ec_number": "2.4.1.1", "activity": "", "evidence": [ { "id": "P06738", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06738" } ] } ] }, { "uniprot_ac": "P07478", "gene_name": "PRSS2", "activity": [ { "ec_number": "3.4.21.4", "activity": "Preferential cleavage: Arg-|-Xaa, Lys-|-Xaa.", "evidence": [ { "id": "P07478", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07478" } ] }, { "ec_number": "3.4.21.4", "activity": "", "evidence": [ { "id": "P07478", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07478" } ] } ] }, { "uniprot_ac": "P07686", "gene_name": "HEXB", "activity": [ { "ec_number": "3.2.1.52", "activity": "Hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides.", "evidence": [ { "id": "P07686", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07686" } ] }, { "ec_number": "3.2.1.52", "activity": "", "evidence": [ { "id": "P07686", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07686" } ] } ] }, { "uniprot_ac": "P08236", "gene_name": "GUSB", "activity": [ { "ec_number": "3.2.1.31", "activity": "a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate.", "evidence": [ { "id": "P08236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08236" } ] }, { "ec_number": "3.2.1.31", "activity": "", "evidence": [ { "id": "P08236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08236" } ] } ] }, { "uniprot_ac": "P08246", "gene_name": "ELANE", "activity": [ { "ec_number": "3.4.21.37", "activity": "Hydrolysis of proteins, including elastin. Preferential cleavage: Val-|-Xaa > Ala-|-Xaa.", "evidence": [ { "id": "P08246", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08246" } ] }, { "ec_number": "3.4.21.37", "activity": "", "evidence": [ { "id": "P08246", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08246" } ] } ] }, { "uniprot_ac": "P08311", "gene_name": "CTSG", "activity": [ { "ec_number": "3.4.21.20", "activity": "Specificity similar to chymotrypsin C.", "evidence": [ { "id": "P08311", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08311" } ] }, { "ec_number": "3.4.21.20", "activity": "", "evidence": [ { "id": "P08311", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08311" } ] } ] }, { "uniprot_ac": "P09811", "gene_name": "Pygl", "activity": [ { "ec_number": "2.4.1.1", "activity": "[(1->4)-alpha-D-glucosyl](n) + phosphate = [(1->4)-alpha-D-glucosyl](n-1) + alpha-D-glucose 1-phosphate.", "evidence": [ { "id": "P09811", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09811" } ] }, { "ec_number": "2.4.1.1", "activity": "", "evidence": [ { "id": "P09811", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09811" } ] } ] }, { "uniprot_ac": "P09812", "gene_name": "Pygm", "activity": [ { "ec_number": "2.4.1.1", "activity": "[(1->4)-alpha-D-glucosyl](n) + phosphate = [(1->4)-alpha-D-glucosyl](n-1) + alpha-D-glucose 1-phosphate.", "evidence": [ { "id": "P09812", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09812" } ] }, { "ec_number": "2.4.1.1", "activity": "", "evidence": [ { "id": "P09812", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09812" } ] } ] }, { "uniprot_ac": "P10153", "gene_name": "RNASE2", "activity": [ { "ec_number": "4.6.1.18", "activity": "an [RNA] containing cytidine + H2O = an [RNA]-3'-cytidine-3'-phosphate + a 5'-hydroxy-ribonucleotide-3'-[RNA].", "evidence": [ { "id": "P10153", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10153" } ] }, { "ec_number": "4.6.1.18", "activity": "", "evidence": [ { "id": "P10153", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10153" } ] } ] }, { "uniprot_ac": "P10619", "gene_name": "CTSA", "activity": [ { "ec_number": "3.4.16.-", "activity": "", "evidence": [ { "id": "P10619", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10619" } ] }, { "ec_number": "3.4.16.5", "activity": "Release of a C-terminal amino acid with broad specificity.", "evidence": [ { "id": "P10619", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10619" } ] }, { "ec_number": "3.4.16.5", "activity": "", "evidence": [ { "id": "P10619", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10619" } ] } ] }, { "uniprot_ac": "P11216", "gene_name": "PYGB", "activity": [ { "ec_number": "2.4.1.1", "activity": "[(1->4)-alpha-D-glucosyl](n) + phosphate = [(1->4)-alpha-D-glucosyl](n-1) + alpha-D-glucose 1-phosphate.", "evidence": [ { "id": "P11216", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11216" } ] }, { "ec_number": "2.4.1.1", "activity": "", "evidence": [ { "id": "P11216", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11216" } ] } ] }, { "uniprot_ac": "P11217", "gene_name": "PYGM", "activity": [ { "ec_number": "2.4.1.1", "activity": "[(1->4)-alpha-D-glucosyl](n) + phosphate = [(1->4)-alpha-D-glucosyl](n-1) + alpha-D-glucose 1-phosphate.", "evidence": [ { "id": "P11217", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11217" } ] }, { "ec_number": "2.4.1.1", "activity": "", "evidence": [ { "id": "P11217", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11217" } ] } ] }, { "uniprot_ac": "P12724", "gene_name": "RNASE3", "activity": [ { "ec_number": "3.1.27.-", "activity": "", "evidence": [ { "id": "P12724", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12724" } ] } ] }, { "uniprot_ac": "P15289", "gene_name": "ARSA", "activity": [ { "ec_number": "3.1.6.8", "activity": "H2O + N-acyl-1-beta-D-(3-O-sulfo)-galactosyl-sphing-4-enine = a beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine + H(+) + sulfate.", "evidence": [ { "id": "P15289", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15289" } ] }, { "ec_number": "3.1.6.8", "activity": "", "evidence": [ { "id": "P15289", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15289" } ] } ] }, { "uniprot_ac": "P15586", "gene_name": "GNS", "activity": [ { "ec_number": "3.1.6.14", "activity": "Hydrolysis of the 6-sulfate groups of the N-acetyl-D-glucosamine 6-sulfate units of heparan sulfate and keratan sulfate.", "evidence": [ { "id": "P15586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15586" } ] }, { "ec_number": "3.1.6.14", "activity": "", "evidence": [ { "id": "P15586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15586" } ] } ] }, { "uniprot_ac": "P15848", "gene_name": "ARSB", "activity": [ { "ec_number": "3.1.6.12", "activity": "Hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate.", "evidence": [ { "id": "P15848", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15848" } ] }, { "ec_number": "3.1.6.12", "activity": "", "evidence": [ { "id": "P15848", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15848" } ] } ] }, { "uniprot_ac": "P16278", "gene_name": "GLB1", "activity": [ { "ec_number": "3.2.1.23", "activity": "Hydrolysis of terminal non-reducing beta-D-galactose residues in beta-D-galactosides.", "evidence": [ { "id": "P16278", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16278" } ] }, { "ec_number": "3.2.1.23", "activity": "", "evidence": [ { "id": "P16278", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16278" } ] } ] }, { "uniprot_ac": "P20839", "gene_name": "IMPDH1", "activity": [ { "ec_number": "1.1.1.205", "activity": "H2O + IMP + NAD(+) = H(+) + NADH + XMP.", "evidence": [ { "id": "P20839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20839" } ] }, { "ec_number": "1.1.1.205", "activity": "", "evidence": [ { "id": "P20839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20839" } ] } ] }, { "uniprot_ac": "P20933", "gene_name": "AGA", "activity": [ { "ec_number": "3.5.1.26", "activity": "H2O + N(4)-(beta-N-acetyl-D-glucosaminyl)-L-asparagine = H(+) + L-aspartate + N-acetyl-beta-D-glucosaminylamine.", "evidence": [ { "id": "P20933", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20933" } ] }, { "ec_number": "3.5.1.26", "activity": "", "evidence": [ { "id": "P20933", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20933" } ] } ] }, { "uniprot_ac": "P24158", "gene_name": "PRTN3", "activity": [ { "ec_number": "3.4.21.76", "activity": "Hydrolysis of proteins, including elastin, by preferential cleavage: -Ala-|-Xaa- > -Val-|-Xaa-.", "evidence": [ { "id": "P24158", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24158" } ] }, { "ec_number": "3.4.21.76", "activity": "", "evidence": [ { "id": "P24158", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24158" } ] } ] }, { "uniprot_ac": "P28482", "gene_name": "MAPK1", "activity": [ { "ec_number": "2.7.11.24", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P28482", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28482" } ] }, { "ec_number": "2.7.11.24", "activity": "", "evidence": [ { "id": "P28482", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28482" } ] } ] }, { "uniprot_ac": "P30041", "gene_name": "PRDX6", "activity": [ { "ec_number": "1.11.1.27", "activity": "a hydroperoxide + 2 glutathione = an alcohol + glutathione disulfide + H2O.", "evidence": [ { "id": "P30041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30041" } ] }, { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "P30041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30041" } ] }, { "ec_number": "2.3.1.23", "activity": "a 1-acyl-sn-glycero-3-phosphocholine + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphocholine + CoA.", "evidence": [ { "id": "P30041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30041" } ] }, { "ec_number": "1.11.1.27", "activity": "", "evidence": [ { "id": "P30041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30041" } ] } ] }, { "uniprot_ac": "P34059", "gene_name": "GALNS", "activity": [ { "ec_number": "3.1.6.4", "activity": "Hydrolysis of the 6-sulfate groups of the N-acetyl-D-galactosamine 6-sulfate units of chondroitin sulfate and of the D-galactose 6-sulfate units of keratan sulfate.", "evidence": [ { "id": "P34059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P34059" } ] }, { "ec_number": "3.1.6.4", "activity": "", "evidence": [ { "id": "P34059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P34059" } ] } ] }, { "uniprot_ac": "P34114", "gene_name": "glpD", "activity": [ { "ec_number": "2.4.1.1", "activity": "[(1->4)-alpha-D-glucosyl](n) + phosphate = [(1->4)-alpha-D-glucosyl](n-1) + alpha-D-glucose 1-phosphate.", "evidence": [ { "id": "P34114", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P34114" } ] }, { "ec_number": "2.4.1.1", "activity": "", "evidence": [ { "id": "P34114", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P34114" } ] } ] }, { "uniprot_ac": "P42685", "gene_name": "FRK", "activity": [ { "ec_number": "2.7.10.2", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "P42685", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42685" } ] }, { "ec_number": "2.7.10.2", "activity": "", "evidence": [ { "id": "P42685", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42685" } ] } ] }, { "uniprot_ac": "P46976", "gene_name": "GYG1", "activity": [ { "ec_number": "2.4.1.186", "activity": "[1,4-alpha-D-glucosyl](n)-L-tyrosyl-[glycogenin] + UDP-alpha-D-glucose = [1,4-alpha-D-glucosyl](n+1)-L-tyrosyl-[glycogenin] + H(+) + UDP.", "evidence": [ { "id": "P46976", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P46976" } ] }, { "ec_number": "2.4.1.186", "activity": "", "evidence": [ { "id": "P46976", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P46976" } ] } ] }, { "uniprot_ac": "P53396", "gene_name": "ACLY", "activity": [ { "ec_number": "2.3.3.8", "activity": "acetyl-CoA + ADP + oxaloacetate + phosphate = ATP + citrate + CoA.", "evidence": [ { "id": "P53396", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53396" } ] }, { "ec_number": "2.3.3.8", "activity": "", "evidence": [ { "id": "P53396", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53396" } ] } ] }, { "uniprot_ac": "P53534", "gene_name": "Pygb", "activity": [ { "ec_number": "2.4.1.1", "activity": "[(1->4)-alpha-D-glucosyl](n) + phosphate = [(1->4)-alpha-D-glucosyl](n-1) + alpha-D-glucose 1-phosphate.", "evidence": [ { "id": "P53534", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53534" } ] }, { "ec_number": "2.4.1.1", "activity": "", "evidence": [ { "id": "P53534", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53534" } ] } ] }, { "uniprot_ac": "P53634", "gene_name": "CTSC", "activity": [ { "ec_number": "3.4.14.1", "activity": "Release of an N-terminal dipeptide, Xaa-Yaa-|-Zaa-, except when Xaa is Arg or Lys, or Yaa or Zaa is Pro.", "evidence": [ { "id": "P53634", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53634" } ] }, { "ec_number": "3.4.14.1", "activity": "", "evidence": [ { "id": "P53634", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53634" } ] } ] }, { "uniprot_ac": "P55072", "gene_name": "VCP", "activity": [ { "ec_number": "3.6.4.6", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P55072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55072" } ] }, { "ec_number": "3.6.4.6", "activity": "", "evidence": [ { "id": "P55072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55072" } ] } ] }, { "uniprot_ac": "P61626", "gene_name": "LYZ", "activity": [ { "ec_number": "3.2.1.17", "activity": "Hydrolysis of (1->4)-beta-linkages between N-acetylmuramic acid and N-acetyl-D-glucosamine residues in a peptidoglycan and between N-acetyl-D-glucosamine residues in chitodextrins.", "evidence": [ { "id": "P61626", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61626" } ] }, { "ec_number": "3.2.1.17", "activity": "", "evidence": [ { "id": "P61626", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61626" } ] } ] }, { "uniprot_ac": "Q00766", "gene_name": "glpV", "activity": [ { "ec_number": "2.4.1.1", "activity": "[(1->4)-alpha-D-glucosyl](n) + phosphate = [(1->4)-alpha-D-glucosyl](n-1) + alpha-D-glucose 1-phosphate.", "evidence": [ { "id": "Q00766", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q00766" } ] }, { "ec_number": "2.4.1.1", "activity": "", "evidence": [ { "id": "Q00766", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q00766" } ] } ] }, { "uniprot_ac": "Q05655", "gene_name": "PRKCD", "activity": [ { "ec_number": "2.7.10.2", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "Q05655", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q05655" } ] }, { "ec_number": "2.7.11.13", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q05655", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q05655" } ] }, { "ec_number": "2.7.11.13", "activity": "", "evidence": [ { "id": "Q05655", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q05655" } ] } ] }, { "uniprot_ac": "Q16816", "gene_name": "PHKG1", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q16816", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16816" } ] }, { "ec_number": "2.7.11.26", "activity": "ATP + L-seryl-[tau protein] = ADP + H(+) + O-phospho-L-seryl-[tau protein].", "evidence": [ { "id": "Q16816", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16816" } ] }, { "ec_number": "2.7.11.19", "activity": "2 ATP + phosphorylase b = 2 ADP + phosphorylase a.", "evidence": [ { "id": "Q16816", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16816" } ] }, { "ec_number": "2.7.11.19", "activity": "", "evidence": [ { "id": "Q16816", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16816" } ] } ] }, { "uniprot_ac": "Q6XQN6", "gene_name": "NAPRT", "activity": [ { "ec_number": "6.3.4.21", "activity": "5-phospho-alpha-D-ribose 1-diphosphate + ATP + H2O + nicotinate = ADP + diphosphate + nicotinate beta-D-ribonucleotide + phosphate.", "evidence": [ { "id": "Q6XQN6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6XQN6" } ] }, { "ec_number": "6.3.4.21", "activity": "", "evidence": [ { "id": "Q6XQN6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6XQN6" } ] } ] }, { "uniprot_ac": "Q8CI94", "gene_name": "Pygb", "activity": [ { "ec_number": "2.4.1.1", "activity": "[(1->4)-alpha-D-glucosyl](n) + phosphate = [(1->4)-alpha-D-glucosyl](n-1) + alpha-D-glucose 1-phosphate.", "evidence": [ { "id": "Q8CI94", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8CI94" } ] }, { "ec_number": "2.4.1.1", "activity": "", "evidence": [ { "id": "Q8CI94", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8CI94" } ] } ] }, { "uniprot_ac": "Q8NBS9", "gene_name": "TXNDC5", "activity": [ { "ec_number": "1.8.4.-", "activity": "", "evidence": [ { "id": "Q8NBS9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBS9" } ] }, { "ec_number": "5.3.4.1", "activity": "Catalyzes the rearrangement of -S-S- bonds in proteins.", "evidence": [ { "id": "Q8NBS9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBS9" } ] }, { "ec_number": "5.3.4.1", "activity": "", "evidence": [ { "id": "Q8NBS9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBS9" } ] } ] }, { "uniprot_ac": "Q92820", "gene_name": "GGH", "activity": [ { "ec_number": "3.4.19.9", "activity": "(6S)-5,6,7,8-tetrahydrofolyl-(gamma-L-Glu)(n) + (n-1) H2O = (6S)-5,6,7,8-tetrahydrofolate + (n-1) L-glutamate.", "evidence": [ { "id": "Q92820", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92820" } ] }, { "ec_number": "3.4.19.9", "activity": "", "evidence": [ { "id": "Q92820", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92820" } ] } ] }, { "uniprot_ac": "Q99536", "gene_name": "VAT1", "activity": [ { "ec_number": "1.-.-.-", "activity": "", "evidence": [ { "id": "Q99536", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99536" } ] } ] }, { "uniprot_ac": "Q9BRF8", "gene_name": "CPPED1", "activity": [ { "ec_number": "3.1.3.16", "activity": "H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate.", "evidence": [ { "id": "Q9BRF8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BRF8" } ] }, { "ec_number": "3.1.3.16", "activity": "", "evidence": [ { "id": "Q9BRF8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BRF8" } ] } ] }, { "uniprot_ac": "Q9BTY2", "gene_name": "FUCA2", "activity": [ { "ec_number": "3.2.1.51", "activity": "an alpha-L-fucoside + H2O = an alcohol + L-fucose.", "evidence": [ { "id": "Q9BTY2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BTY2" } ] }, { "ec_number": "3.2.1.51", "activity": "", "evidence": [ { "id": "Q9BTY2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BTY2" } ] } ] }, { "uniprot_ac": "Q9ET01", "gene_name": "Pygl", "activity": [ { "ec_number": "2.4.1.1", "activity": "[(1->4)-alpha-D-glucosyl](n) + phosphate = [(1->4)-alpha-D-glucosyl](n-1) + alpha-D-glucose 1-phosphate.", "evidence": [ { "id": "Q9ET01", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9ET01" } ] }, { "ec_number": "2.4.1.1", "activity": "", "evidence": [ { "id": "Q9ET01", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9ET01" } ] } ] }, { "uniprot_ac": "Q9H7Z7", "gene_name": "PTGES2", "activity": [ { "ec_number": "5.3.99.3", "activity": "prostaglandin H2 = prostaglandin E2.", "evidence": [ { "id": "Q9H7Z7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H7Z7" } ] }, { "ec_number": "5.3.99.3", "activity": "", "evidence": [ { "id": "Q9H7Z7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H7Z7" } ] } ] }, { "uniprot_ac": "Q9NZK5", "gene_name": "ADA2", "activity": [ { "ec_number": "3.5.4.4", "activity": "2'-deoxyadenosine + H(+) + H2O = 2'-deoxyinosine + NH4(+).", "evidence": [ { "id": "Q9NZK5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NZK5" } ] }, { "ec_number": "3.5.4.4", "activity": "", "evidence": [ { "id": "Q9NZK5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NZK5" } ] } ] }, { "uniprot_ac": "Q9UHL4", "gene_name": "DPP7", "activity": [ { "ec_number": "3.4.14.2", "activity": "Release of an N-terminal dipeptide, Xaa-Yaa-|-, preferentially when Yaa is Ala or Pro. Substrates are oligopeptides, preferentially tripeptides.", "evidence": [ { "id": "Q9UHL4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UHL4" } ] }, { "ec_number": "3.4.14.2", "activity": "", "evidence": [ { "id": "Q9UHL4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UHL4" } ] } ] }, { "uniprot_ac": "Q9WUB3", "gene_name": "Pygm", "activity": [ { "ec_number": "2.4.1.1", "activity": "[(1->4)-alpha-D-glucosyl](n) + phosphate = [(1->4)-alpha-D-glucosyl](n-1) + alpha-D-glucose 1-phosphate.", "evidence": [ { "id": "Q9WUB3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9WUB3" } ] }, { "ec_number": "2.4.1.1", "activity": "", "evidence": [ { "id": "Q9WUB3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9WUB3" } ] } ] }, { "uniprot_ac": "Q9XTL9", "gene_name": "Glyp", "activity": [ { "ec_number": "2.4.1.1", "activity": "[(1->4)-alpha-D-glucosyl](n) + phosphate = [(1->4)-alpha-D-glucosyl](n-1) + alpha-D-glucose 1-phosphate.", "evidence": [ { "id": "Q9XTL9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9XTL9" } ] }, { "ec_number": "2.4.1.1", "activity": "", "evidence": [ { "id": "Q9XTL9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9XTL9" } ] } ] }, { "uniprot_ac": "Q9Y2J8", "gene_name": "PADI2", "activity": [ { "ec_number": "3.5.3.15", "activity": "H2O + L-arginyl-[protein] = L-citrullyl-[protein] + NH4(+).", "evidence": [ { "id": "Q9Y2J8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2J8" } ] }, { "ec_number": "3.5.3.15", "activity": "", "evidence": [ { "id": "Q9Y2J8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2J8" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 94 ], "glycation_sites": [], "phosphorylation_sites": [ 6, 15, 76, 162, 197, 473, 562 ], "sequon_annotation_sites": [ { "start_pos": 236, "end_pos": 238 }, { "start_pos": 275, "end_pos": 277 }, { "start_pos": 339, "end_pos": 341 }, { "start_pos": 377, "end_pos": 379 }, { "start_pos": 482, "end_pos": 484 } ] }, "section_stats": [ { "table_id": "glycosylation", "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" ] }, { "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" ] }, { "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": 7 }, { "field": "total_sites", "count": 7 } ], "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": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 38 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }