{ "uniprot_canonical_ac": "P14314-1", "uniprot_ac": "P14314", "uniprot_id": "GLU2B_HUMAN", "mass": { "chemical_mass": 59425.0, "monoisotopic_mass": 59425.0 }, "refseq": { "ac": "NP_001001329", "name": "glucosidase 2 subunit beta isoform 2 precursor", "summary": "This gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum. The encoded protein is an acidic phosphoprotein known to be a substrate for protein kinase C. Mutations in this gene have been associated with the autosomal dominant polycystic liver disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001329" }, "gene_names": [ { "name": "PRKCSH", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P14314", "id": "P14314" }, { "name": "80K-H; AGE-R2; G19P1; GIIB; GIIbeta; GluIIbeta; PCLD; PCLD1; PKCSH; PLD1; VASAP-60", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001329", "id": "NP_001001329" }, { "name": "G19P1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P14314", "id": "P14314" }, { "name": "PRKCSH", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001329", "id": "NP_001001329" } ], "protein_names": [ { "name": "Glucosidase 2 subunit beta", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P14314" }, { "name": "80K-H protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14314" }, { "name": "AGE-binding receptor 2; hepatocystin; protein kinase C substrate, 80 Kda protein; glucosidase 2 subunit beta; glucosidase II subunit beta; advanced glycation end-product receptor 2; protein kinase C substrate 60.1 kDa protein heavy chain; protein kinase C substrate 80K-H", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001329", "id": "NP_001001329" }, { "name": "Glucosidase II subunit beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14314" }, { "name": "PKCSH", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14314" }, { "name": "Protein kinase C substrate 60.1 kDa protein heavy chain", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14314" }, { "name": "glucosidase 2 subunit beta isoform 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001329", "id": "NP_001001329" } ], "function": [ { "annotation": "Potential role of PRKCSH in lung cancer: bioinformatics analysis and a case study of Nano ZnO. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001001329", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001329" }, { "database": "PubMed", "id": "35254362", "url": "https://glygen.org/publication/PubMed/35254362" } ] }, { "annotation": "Regulatory subunit of glucosidase II that cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins (PubMed:10929008). Required for efficient PKD1/Polycystin-1 biogenesis and trafficking to the plasma membrane of the primary cilia (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P14314", "url": "https://www.uniprot.org/uniprot/P14314#function" }, { "database": "UniProtKB", "id": "O08795", "url": "https://www.uniprot.org/uniprot/O08795#function" }, { "database": "PubMed", "id": "10929008", "url": "https://glygen.org/publication/PubMed/10929008" } ] }, { "annotation": "Results suggest that loss of PRKCSH and SEC63 leads to general defects in ciliogenesis, while quenching of the Wnt signaling cascade is cholangiocyte-restricted.", "evidence": [ { "database": "RefSeq", "id": "NP_001001329", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001329" }, { "database": "PubMed", "id": "28973524", "url": "https://glygen.org/publication/PubMed/28973524" } ] }, { "annotation": "This gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum. The encoded protein is an acidic phosphoprotein known to be a substrate for protein kinase C. Mutations in this gene have been associated with the autosomal dominant polycystic liver disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001001329", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001329" } ] }, { "annotation": "This study demonstrated that Large copy number variations on germline level are not present in patients with a clinical diagnosis of Severe Polycystic Liver Disease.", "evidence": [ { "database": "RefSeq", "id": "NP_001001329", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001329" }, { "database": "PubMed", "id": "26365003", "url": "https://glygen.org/publication/PubMed/26365003" } ] } ], "disease": [ { "disease_id": "DOID:0050770", "recommended_name": { "id": "DOID:0050770", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050770", "name": "polycystic liver disease", "description": "A liver disease that is characterized by the presence of multiple cysts located_in the liver." }, "synonyms": [ { "id": "DOID:0050770", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050770", "name": "congenital cystic liver disease", "description": "" }, { "id": "DOID:0050770", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050770", "name": "congenital hepatic cyst", "description": "" }, { "id": "DOID:0050770", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050770", "name": "fibrocystic liver disease", "description": "" }, { "id": "MONDO:0008265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008265", "name": "polycystic liver disease 1", "description": "A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver." }, { "id": "MONDO:0008265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008265", "name": "isolated congenital polycystic liver disease", "description": "" }, { "id": "MONDO:0008265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008265", "name": "isolated polycystic liver disease", "description": "" }, { "id": "MONDO:0008265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008265", "name": "PCLD1", "description": "" }, { "id": "MONDO:0008265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008265", "name": "nonsyndromic congenital polycystic liver disease", "description": "" }, { "id": "MONDO:0008265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008265", "name": "nonsyndromic polycystic liver disease (disease)", "description": "" }, { "id": "MONDO:0008265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008265", "name": "polycystic liver disease 1", "description": "" }, { "id": "MONDO:0008265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008265", "name": "polycystic liver disease 1 with or without kidney cysts", "description": "" }, { "id": "MONDO:0008265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008265", "name": "ADPCLD", "description": "" }, { "id": "MONDO:0008265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008265", "name": "PCLD", "description": "" }, { "id": "MONDO:0008265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008265", "name": "autosomal dominant polycystic liver disease", "description": "" }, { "id": "MONDO:0008265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008265", "name": "isolated autosomal dominant polycystic liver disease", "description": "" }, { "id": "MONDO:0008265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008265", "name": "polycystic liver disease", "description": "" }, { "id": "MIM:174050", "resource": "MIM", "url": "https://www.omim.org/entry/174050", "name": "Polycystic liver disease 1 with or without kidney cysts", "description": "Polycystic liver disease 1 with or without kidney cysts" } ], "evidence": [ { "id": "0008265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008265" }, { "id": "174050", "database": "MIM", "url": "https://www.omim.org/entry/174050" } ] } ], "snv": [ { "evidence": [ { "id": "rs1351089743", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1351089743" }, { "id": "rs1351089743", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1351089743" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 109, "end_pos": 109, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSG->NSS).", "chr_id": "19", "chr_pos": "11438099", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G109", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1260329950", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1260329950" }, { "id": "rs1260329950", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1260329950#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 134, "end_pos": 134, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "19", "chr_pos": "11441290", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T134", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1238585087", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1238585087" }, { "id": "rs1238585087", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1238585087" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 166, "end_pos": 166, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KKS->NKS).", "chr_id": "19", "chr_pos": "11442415", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K166", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P14314", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P14314" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 282, "end_pos": 282, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->F).", "chr_id": "19", "chr_pos": "11447156", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S282", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P14314", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P14314" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 287, "end_pos": 287, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (T->N).", "chr_id": "19", "chr_pos": "11447449", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T287", "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": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs769813784", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769813784" }, { "id": "rs769813784", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769813784" }, { "id": "rs769813784", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769813784" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 293, "end_pos": 293, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "19", "chr_pos": "11447467", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S293", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P14314", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P14314" }, { "id": "rs574529270", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs574529270" }, { "id": "rs574529270", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs574529270" }, { "id": "rs574529270", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs574529270" }, { "id": "rs574529270", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs574529270" }, { "id": "rs574529270", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs574529270#frequency_tab" }, { "id": "rs574529270", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs574529270" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 298, "end_pos": 298, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (T->M).", "chr_id": "19", "chr_pos": "11447482", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T298", "disease": [ { "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": 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"http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P14314", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14314" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": 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"" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": 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"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": 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"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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the 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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": "P14314", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14314" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14314" } ], "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": [ { 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"database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EKX1", "url": "https://www.uniprot.org/uniprot/K7EKX1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EKX1-1", "url": "https://www.uniprot.org/uniprot/K7EKX1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EL27", "url": "https://www.uniprot.org/uniprot/K7EL27", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EL27-1", "url": "https://www.uniprot.org/uniprot/K7EL27-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ELL7", "url": "https://www.uniprot.org/uniprot/K7ELL7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ELL7-1", "url": "https://www.uniprot.org/uniprot/K7ELL7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EPW7", "url": "https://www.uniprot.org/uniprot/K7EPW7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EPW7-1", "url": "https://www.uniprot.org/uniprot/K7EPW7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P14314", "url": "https://www.uniprot.org/uniprot/P14314", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P14314-1", "url": "https://www.uniprot.org/uniprot/P14314-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P14314-2", "url": "https://www.uniprot.org/uniprot/P14314-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLLPLLLLLPMCWAVEVKRPRGVSLTNHHFYDESKPFTCLDGSATIPFDQVNDDYCDCKDGSDEPGTAACPNGSFHCTNTGYKPLYIPSNRVNDGVCDCCDGTDEYNSGVICENTCKEKGRKERESLQQMAEVTREGFRLKKILIEDWKKAREEKQKKLIELQAGKKSLEDQVEMLRTVKEEAEKPEREAKEQHQKLWEEQLAAAKAQQEQELAADAFKELDDDMDGTVSVTELQTHPELDTDGDGALSEAEAQALLSGDTQTDATSFYDRVWAAIRDKYRSEALPTDLPAPSAPDLTEPKEEQPPVPSSPTEEEEEEEEEEEEEAEEEEEEEDSEEAPPPLSPPQPASPAEEDKMPPYDEQTQAFIDAAQEARNKFEEAERSLKDMEESIRNLEQEISFDFGPNGEFAYLYSQCYELTTNEYVYRLCPFKLVSQKPKLGGSPTSLGTWGSWIGPDHDKFSAMKYEQGTGCWQGPNRSTTVRLLCGKETMVTSTTEPSRCEYLMELMTPAACPEPPPEAPTEDDHDEL", "length": 528, "header": "sp|P14314-1|GLU2B_HUMAN Isoform 1 of Glucosidase 2 subunit beta OS=Homo sapiens OX=9606 GN=PRKCSH PE=1 SV=2 CANONICAL=P14314-1" }, "isoforms": [ { "isoform_ac": "A0A0C4DGP4-1", "url": "", "sequence": { "sequence": "AEEEEEEEDSEVQGEQPKPASPAEEDKMPPYDEQTQAFIDAAQEARNKFEEAERSLKDMEESIRNLEQEISFDFGPNGEFAYLYSQCYELTTNEYVYRLCPFKLVSQKPKLGGSPTSLGTWGSWIGPDHDKFSAMKYEQGTGCWQGPNRSTTVRLLCGKETMVTSTTEPSRCEYLMELMTPAACPEPPPEAPTEDDHDEL", "length": 200, "header": "tr|A0A0C4DGP4-1|GLU2B_HUMAN Computationally mapped isoform of Glucosidase 2 subunit beta OS=Homo sapiens OX=9606 GN=PRKCSH PE=1 SV=1 CANONICAL=P14314-1" }, "locus": { "chromosome": "19", "start_pos": 11449409, "end_pos": 11447565, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000586486.1", "url": "https://www.ensembl.org/id/ENST00000586486.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000465948.1", "url": "https://www.ensembl.org/id/ENSP00000465948.1" } ] } }, { "isoform_ac": "A0A7I2V2T6-1", "url": "", "sequence": { "sequence": "MLLPLLLLLPMCWAVEVKRPRGVSLTNHHFYDESKPFTCLDGSATIPFDQVNDDYCDCKDGSDEPGTAACPNGSFHCTNTGYKPLYIPSNRVNDGVCDCCDGTDEYNSGVICENTCKEKGRKERESLQQMAEVTREGFRLKKILIEDWKKAREEKQKKLIELQAGKKSLED", "length": 171, "header": "tr|A0A7I2V2T6-1|A0A7I2V2T6_HUMAN Computationally mapped isoform of Protein kinase C substrate 80K-H OS=Homo sapiens OX=9606 GN=PRKCSH PE=1 SV=1 CANONICAL=P14314-1" }, "locus": { "chromosome": "19", "start_pos": 11442430, "end_pos": 11436118, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676823.1", "url": "https://www.ensembl.org/id/ENST00000676823.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503072.1", "url": "https://www.ensembl.org/id/ENSP00000503072.1" } ] } }, { "isoform_ac": "K7EIP3-1", "url": "", "sequence": { "sequence": "MLLPLLLLLPMCWAVEVKRPRGVSLTNHHFYDESKPFTCLDGSATIPFDQVNDDYCDCKDGS", "length": 62, "header": "tr|K7EIP3-1|GLU2B_HUMAN Computationally mapped isoform of Glucosidase 2 subunit beta OS=Homo sapiens OX=9606 GN=PRKCSH PE=1 SV=1 CANONICAL=P14314-1" }, "locus": { "chromosome": "19", "start_pos": 11436495, "end_pos": 11436118, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000591946.5", "url": "https://www.ensembl.org/id/ENST00000591946.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000464835.1", "url": "https://www.ensembl.org/id/ENSP00000464835.1" } ] } }, { "isoform_ac": "K7EJ70-1", "url": "", "sequence": { "sequence": "MLLPLLLLLPMCWAVEVKRPRGVSLTNHHFYDESKPFTCLDGSATIPFDQVNDDYCDCKDGSDEPGTAACPNGSFHCTNTGYKPLYIPSNRVNDGVCDCCDGTDEYNSGVICENTCKEKGRKERESLQQMAEVTREGFRLKKIL", "length": 144, "header": "tr|K7EJ70-1|GLU2B_HUMAN Computationally mapped isoform of Glucosidase 2 subunit beta OS=Homo sapiens OX=9606 GN=PRKCSH PE=1 SV=1 CANONICAL=P14314-1" }, "locus": { "chromosome": "19", "start_pos": 11441321, "end_pos": 11436118, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000593101.5", "url": "https://www.ensembl.org/id/ENST00000593101.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000465047.1", "url": "https://www.ensembl.org/id/ENSP00000465047.1" } ] } }, { "isoform_ac": "K7EKX1-1", "url": "", "sequence": { "sequence": "MLLPLLLLLPMCWAVEVKRPRGVSLTNHHFYDESKPFTCLDGSATIPFDQVNDDYCDCKDGSDEPGTAACPNGSFHCTNTGYKPLYIPSNRVNDGVCDCCDGTDEYNSGVICENTCKEKGRKERESLQQMAEVTREGFRL", "length": 140, "header": "tr|K7EKX1-1|GLU2B_HUMAN Computationally mapped isoform of Glucosidase 2 subunit beta OS=Homo sapiens OX=9606 GN=PRKCSH PE=1 SV=1 CANONICAL=P14314-1" }, "locus": { "chromosome": "19", "start_pos": 11441309, "end_pos": 11436118, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000587509.5", "url": "https://www.ensembl.org/id/ENST00000587509.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000465821.1", "url": "https://www.ensembl.org/id/ENSP00000465821.1" } ] } }, { "isoform_ac": "K7EL27-1", "url": "", "sequence": { "sequence": "MLLPLLLLLPMCWAVEVKRPRGVSLTSESSCSPSRQAGGGRGQHWALGIGIYSLLTQFPGSAPLVGMGGQRWYLVEKALTCPGLSFLYPADHHFYDESKPFTCLDGSATIPFDQVNDDYCDCKDGSDEPGTA", "length": 132, "header": "tr|K7EL27-1|K7EL27_HUMAN Computationally mapped isoform of Protein kinase C substrate 80K-H OS=Homo sapiens OX=9606 GN=PRKCSH PE=1 SV=1 CANONICAL=P14314-1" }, "locus": { "chromosome": "19", "start_pos": 11437883, "end_pos": 11436118, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000588269.1", "url": "https://www.ensembl.org/id/ENST00000588269.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000465889.1", "url": "https://www.ensembl.org/id/ENSP00000465889.1" } ] } }, { "isoform_ac": "K7ELL7-1", "url": "", "sequence": { "sequence": "MLLPLLLLLPMCWAVEVKRPRGVSLTNHHFYDESKPFTCLDGSATIPFDQVNDDYCDCKDGSDEPGTAACPNGSFHCTNTGYKPLYIPSNRVNDGVCDCCDGTDEYNSGVICENTCKEKGRKERESLQQMAEVTREGFRLKKILIEDWKKAREEKQKKLIELQAGKKSLEDQVEMLRTVKEEAEKPEREAKEQHQKLWEEQLAAAKAQQEQELAADAFKELDDDMDGTVSVTELQTHPELDTDGDGALSEAEAQALLSGDTQTDATSFYDRVWAAIRDKYRSEALPTDLPAPSAPDLTEPKEEQPPVPSSPTEEEEEEEEEEEEEAEEEEEEEDSEVQGEQPKEAPPPLSPPQPASPAEEDKMPPYDEQTQAFIDAAQEARNKFEEAERSLKDMEESIRNLEQEISFDFGPNGEFAYLYSQCYELTTNEYVYRLCPFKLVSQKPKLGGSPTSLGTWGSWIGPDHDKFSAMKYEQGTGCWQGPNRSTTVRLLCGKETMVTSTTEPSRCEYLMELMTPAACPEPPPEAPTEDDHDEL", "length": 535, "header": "tr|K7ELL7-1|GLU2B_HUMAN Computationally mapped isoform of Glucosidase 2 subunit beta OS=Homo sapiens OX=9606 GN=PRKCSH PE=1 SV=1 CANONICAL=P14314-1" }, "locus": { "chromosome": "19", "start_pos": 11449409, "end_pos": 11436118, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677123.1", "url": "https://www.ensembl.org/id/ENST00000677123.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503163.1", "url": "https://www.ensembl.org/id/ENSP00000503163.1" } ] } }, { "isoform_ac": "K7EPW7-1", "url": "", "sequence": { "sequence": "MLLPLLLLLPMCWAVEVKRPRGVSLTNHHFYDESKPFTCLDGSATIPFDQVNDDYCDCKDGSDEPGTAACPNGSFHCTNTGYKPLYIPSNRVNDGVCDCCDGTDEYNSGVICENTCKEKGRKERESLQQMAEVTREGFRLKKILIEDWKKAREEKQKKLIELQAGKKS", "length": 168, "header": "tr|K7EPW7-1|GLU2B_HUMAN Computationally mapped isoform of Glucosidase 2 subunit beta OS=Homo sapiens OX=9606 GN=PRKCSH PE=1 SV=1 CANONICAL=P14314-1" }, "locus": { "chromosome": "19", "start_pos": 11442421, "end_pos": 11436118, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000589126.5", "url": "https://www.ensembl.org/id/ENST00000589126.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000467566.1", "url": "https://www.ensembl.org/id/ENSP00000467566.1" } ] } }, { "isoform_ac": "P14314-1", "url": "", "sequence": { "sequence": "MLLPLLLLLPMCWAVEVKRPRGVSLTNHHFYDESKPFTCLDGSATIPFDQVNDDYCDCKDGSDEPGTAACPNGSFHCTNTGYKPLYIPSNRVNDGVCDCCDGTDEYNSGVICENTCKEKGRKERESLQQMAEVTREGFRLKKILIEDWKKAREEKQKKLIELQAGKKSLEDQVEMLRTVKEEAEKPEREAKEQHQKLWEEQLAAAKAQQEQELAADAFKELDDDMDGTVSVTELQTHPELDTDGDGALSEAEAQALLSGDTQTDATSFYDRVWAAIRDKYRSEALPTDLPAPSAPDLTEPKEEQPPVPSSPTEEEEEEEEEEEEEAEEEEEEEDSEEAPPPLSPPQPASPAEEDKMPPYDEQTQAFIDAAQEARNKFEEAERSLKDMEESIRNLEQEISFDFGPNGEFAYLYSQCYELTTNEYVYRLCPFKLVSQKPKLGGSPTSLGTWGSWIGPDHDKFSAMKYEQGTGCWQGPNRSTTVRLLCGKETMVTSTTEPSRCEYLMELMTPAACPEPPPEAPTEDDHDEL", "length": 528, "header": "sp|P14314-1|GLU2B_HUMAN Isoform 1 of Glucosidase 2 subunit beta OS=Homo sapiens OX=9606 GN=PRKCSH PE=1 SV=2 CANONICAL=P14314-1" }, "locus": { "chromosome": "19", "start_pos": 11449409, "end_pos": 11436118, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000589838.5", "url": "https://www.ensembl.org/id/ENST00000589838.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000465461.1", "url": "https://www.ensembl.org/id/ENSP00000465461.1" } ] } }, { "isoform_ac": "P14314-2", "url": "", "sequence": { "sequence": "MLLPLLLLLPMCWAVEVKRPRGVSLTNHHFYDESKPFTCLDGSATIPFDQVNDDYCDCKDGSDEPGTAACPNGSFHCTNTGYKPLYIPSNRVNDGVCDCCDGTDEYNSGVICENTCKEKGRKERESLQQMAEVTREGFRLKKILIEDWKKAREEKQKKLIELQAGKKSLEDQVEMLRTVKEEAEKPEREAKEQHQKLWEEQLAAAKAQQEQELAADAFKELDDDMDGTVSVTELQTHPELDTDGDGALSEAEAQALLSGDTQTDATSFYDRVWAAIRDKYRSEALPTDLPAPSAPDLTEPKEEQPPVPSSPTEEEEEEEEEEEEEAEEEEEEEDSEVQGEQPKPASPAEEDKMPPYDEQTQAFIDAAQEARNKFEEAERSLKDMEESIRNLEQEISFDFGPNGEFAYLYSQCYELTTNEYVYRLCPFKLVSQKPKLGGSPTSLGTWGSWIGPDHDKFSAMKYEQGTGCWQGPNRSTTVRLLCGKETMVTSTTEPSRCEYLMELMTPAACPEPPPEAPTEDDHDEL", "length": 525, "header": "sp|P14314-2|GLU2B_HUMAN Isoform 2 of Glucosidase 2 subunit beta OS=Homo sapiens OX=9606 GN=PRKCSH PE=1 SV=2 CANONICAL=P14314-1" }, "locus": { "chromosome": "19", "start_pos": 11449409, "end_pos": 11436118, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000587327.5", "url": "https://www.ensembl.org/id/ENST00000587327.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000466012.1", "url": "https://www.ensembl.org/id/ENSP00000466012.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 134, "start_aa": "Thr", "end_pos": 134, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr134", "evidence": [ { "id": "P14314", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 263, "start_aa": "Thr", "end_pos": 263, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr263", "evidence": [ { "id": "P14314", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "YRSEALPTDLPAPSAPDLTEPK", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 280, "start_aa": "Tyr", "end_pos": 301, "end_aa": "Lys", "evidence": [ { "id": "P14314", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 282, "start_aa": "Ser", "end_pos": 282, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser282", "evidence": [ { "id": "P14314", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P14314" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "27114449", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27114449" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "26853435", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26853435" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "25128556", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25128556" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "36240223", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36240223" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "22661428", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22661428" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "P14314", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P14314" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 282, "start_aa": "Ser", "end_pos": 282, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser282", "evidence": [ { "id": "P14314", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "SEALPTDLPAPSAPDLTEPK", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 282, "start_aa": "Ser", "end_pos": 301, "end_aa": "Lys", "evidence": [ { "id": "P14314", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G29068FM", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 287, "start_aa": "Thr", "end_pos": 287, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr287", "evidence": [ { "id": "P14314", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": 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"authors": "Arai T, Parker A, Busby W Jr, Clemmons DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7519608", "url": "https://glygen.org/publication/PubMed/7519608" } ] }, { "title": "Matrix metalloproteinases degrade insulin-like growth factor-binding protein-3 in dermal fibroblast cultures.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Fowlkes JL, Enghild JJ, Suzuki K, Nagase H", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7523391", "url": "https://glygen.org/publication/PubMed/7523391" } ] }, { "title": "Recombinant human insulin-like growth factor (IGF)-binding protein-6 inhibits IGF-II-induced differentiation of L6A1 myoblasts.", "journal": "Endocrinology", "date": "1994", "authors": "Bach LA, 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protease.", "journal": "The Journal of endocrinology", "date": "1994", "authors": "Cohen P, Peehl DM, Graves HC, Rosenfeld RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7525824", "url": "https://glygen.org/publication/PubMed/7525824" } ] }, { "title": "Interactions between insulin-like growth factor-I (IGF-I) and the system of plasminogen activators and their inhibitors in the control of IGF-binding protein-3 production and proteolysis in human osteosarcoma cells.", "journal": "Endocrinology", "date": "1994", "authors": "Lalou C, Silve C, Rosato R, Segovia B, Binoux M", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7527330", "url": "https://glygen.org/publication/PubMed/7527330" } ] }, { "title": "Biochemical analysis of prostate specific antigen-proteolyzed insulin-like growth factor binding protein-3.", "journal": "Growth regulation", "date": "1994", "authors": "Fielder PJ, Rosenfeld RG, Graves HC, Grandbois K, Maack CA, Sawamura S, Ogawa Y, Sommer A, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7538844", "url": "https://glygen.org/publication/PubMed/7538844" } ] }, { "title": "Serum levels of insulin-like growth factor (IGF)-binding protein-3 (IGFBP-3) in healthy infants, children, and adolescents: the relation to IGF-I, IGF-II, IGFBP-1, IGFBP-2, age, sex, body mass index, and pubertal maturation.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1995", "authors": "Juul A, Dalgaard P, Blum WF, Bang P, Hall K, Michaelsen KF, Muller J, Skakkebaek NE", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": 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Role of serine proteases.", "journal": "Growth regulation", "date": "1996", "authors": "Angelloz-Nicoud P, Harel L, Binoux M", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "8894645", "url": "https://glygen.org/publication/PubMed/8894645" } ] }, { "title": "Isolation and characterization of proteolytic fragments of insulin-like growth factor-binding protein-3.", "journal": "Hormone research", "date": "1996", "authors": "Lalou C, Lassarre C, Binoux M", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "8964575", "url": "https://glygen.org/publication/PubMed/8964575" } ] }, { "title": "A 3-Mb region for the familial hemiplegic migraine locus on 19p13.1-p13.2: exclusion of PRKCSH as a candidate gene.", "journal": "Eur. J. Hum. Genet.", "date": "1996", "authors": "Ophoff R A, Terwindt G M, Vergouwe M N, van Eijk R, Mohrenweiser H, Litt M, Hofker M H, Haan J, Ferrari M D, Frants R R", "evidence": [ { "database": "UniProtKB", "id": "P14314", "url": "https://www.uniprot.org/uniprot/P14314" } ], "reference": [ { "type": "PubMed", "id": "9043864", "url": "https://glygen.org/publication/PubMed/9043864" } ] }, { "title": "Insulin-like growth factor (IGF)-binding protein 5 forms an alternative ternary complex with IGFs and the acid-labile subunit.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Twigg SM, Baxter RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "9497324", "url": "https://glygen.org/publication/PubMed/9497324" } ] }, { "title": "Identification of novel high molecular weight insulin-like growth factor-binding protein-3 association proteins in human serum.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1998", "authors": "Collett-Solberg PF, Nunn SE, Gibson TB, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "9709957", "url": "https://glygen.org/publication/PubMed/9709957" } ] }, { "title": "The insulin-like growth factor (IGF)binding protein 1 binding epitope on IGF-I probed by heteronuclear NMR spectroscopy and mutational analysis.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Jansson M, Andersson G, Uhlen M, Nilsson B, Kordel J", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "9733769", "url": "https://glygen.org/publication/PubMed/9733769" } ] }, { "title": "Insulin-like growth factor-binding protein 5 complexes with the acid-labile subunit. 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"id": "P14314", "url": "https://www.uniprot.org/uniprot/P14314" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P14314", "url": "https://www.uniprot.org/uniprot/P14314" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P14314", "url": "https://www.uniprot.org/uniprot/P14314" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P14314", "url": "https://www.uniprot.org/uniprot/P14314" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "glucosidase 2 subunit beta O-glycosylated 1 (human)", "definition": "A glucosidase 2 subunit beta (human) that has been O-glycosylated at the residue equivalent to Ser-293 of the amino acid sequence represented by UniProtKB:P14314-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P14314-1, Ser-293, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055411", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055411" } ] }, { "name": "glucosidase 2 subunit beta O-glycosylated 2 (human)", "definition": "A glucosidase 2 subunit beta (human) that has been O-glycosylated at the residue equivalent to Ser-343 of the amino acid sequence represented by UniProtKB:P14314-1, in which the glycan composition is represented by GlyTouCan:G27391WQ. Example: UniProtKB:P14314-1, Ser-343, MOD:00002~GNO:G27391WQ. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055412", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055412" } ] }, { "name": "glucosidase 2 subunit beta O-glycosylated 3 (human)", "definition": "A glucosidase 2 subunit beta (human) that has been O-glycosylated at the residue equivalent to Ser-343 of the amino acid sequence represented by UniProtKB:P14314-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P14314-1, Ser-343, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055413", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055413" } ] }, { "name": "glucosidase 2 subunit beta O-glycosylated 4 (human)", "definition": "A glucosidase 2 subunit beta (human) that has been O-glycosylated at the residue equivalent to Thr-263 of the amino acid sequence represented by UniProtKB:P14314-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P14314-1, Thr-263, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055414", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055414" } ] }, { "name": "glucosidase 2 subunit beta O-glycosylated 5 (human)", "definition": "A glucosidase 2 subunit beta (human) that has been O-glycosylated at the residue equivalent to Thr-287 of the amino acid sequence represented by UniProtKB:P14314-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P14314-1, Thr-287, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055415", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055415" } ] }, { "name": "glucosidase 2 subunit beta O-glycosylated 6 (human)", "definition": "A glucosidase 2 subunit beta (human) that has been O-glycosylated at the residue equivalent to Thr-287 of the amino acid sequence represented by UniProtKB:P14314-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P14314-1, Thr-287, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055416", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055416" } ] }, { "name": "glucosidase 2 subunit beta O-glycosylated 7 (human)", "definition": "A glucosidase 2 subunit beta (human) that has been O-glycosylated at the residue equivalent to Thr-287 of the amino acid sequence represented by UniProtKB:P14314-1, in which the glycan composition is represented by GlyTouCan:G58001LT. Example: UniProtKB:P14314-1, Thr-287, MOD:00005~GNO:G58001LT. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055417", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055417" } ] }, { "name": "glucosidase 2 subunit beta O-glycosylated 8 (human)", "definition": "A glucosidase 2 subunit beta (human) that has been O-glycosylated at the residue equivalent to Thr-363 of the amino acid sequence represented by UniProtKB:P14314-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P14314-1, Thr-363, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055418", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055418" } ] } ], "site_annotation": [ { "start_pos": 476, "end_pos": 478, "annotation": "n_glycosylation_sequon" }, { "start_pos": 72, "end_pos": 74, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 72, 79, 90, 476 ], "o_linked_sites": [ 134, 263, 280, 282, 287, 293, 298, 343, 363, 469 ], "snv_sites": [ 32, 72, 74, 109, 134, 166, 282, 287, 293, 298, 363, 469, 476, 478 ], "glycation_sites": [], "phosphorylation_sites": [ 24, 89, 168, 383, 390, 434 ], "sequon_annotation_sites": [ { "start_pos": 476, "end_pos": 478 }, { "start_pos": 72, "end_pos": 74 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 34 }, { "field": "total_sites", "count": 14 }, { "field": "n_linked_glycans", "count": 8 }, { "field": "n_linked_glycan_sites", "count": 6 }, { "field": "o_linked_glycans", "count": 7 }, { "field": "o_linked_glycan_sites", "count": 10 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 30 }, { "field": "total_sites", "count": 12 }, { "field": "n_linked_glycans", "count": 8 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 7 }, { "field": "o_linked_glycan_sites", "count": 10 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 } ], "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": 18 }, { "field": "total_sites", "count": 14 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 14 }, { "field": "total_sites", "count": 11 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 127 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }