{ "uniprot_canonical_ac": "O95394-1", "uniprot_ac": "O95394", "uniprot_id": "AGM1_HUMAN", "mass": { "chemical_mass": 59852.0, "monoisotopic_mass": 59852.0 }, "refseq": { "ac": "NP_001186846", "name": "phosphoacetylglucosamine mutase isoform 1", "summary": "This gene encodes a member of the phosphohexose mutase family. The encoded protein mediates both glycogen formation and utilization by catalyzing the interconversion of glucose-1-phosphate and glucose-6-phosphate. A non-synonymous single nucleotide polymorphism in this gene may play a role in resistance to diabetic nephropathy and neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186846" }, "gene_names": [ { "name": "PGM3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95394", "id": "O95394" }, { "name": "AGM1; IMD23; PAGM; PGM 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186846", "id": "NP_001186846" }, { "name": "AGM1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95394", "id": "O95394" }, { "name": "PGM3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186846", "id": "NP_001186846" }, { "name": "hCG_401113", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95394", "id": "O95394" } ], "protein_names": [ { "name": "Phosphoacetylglucosamine mutase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95394" }, { "name": "5.4.2.3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95394" }, { "name": "Acetylglucosamine phosphomutase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95394" }, { "name": "N-acetylglucosamine-phosphate mutase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95394" }, { "name": "PAGM", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95394" }, { "name": "PGM 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95394" }, { "name": "Phosphoglucomutase-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95394" }, { "name": "acetylglucosamine phosphomutase; phosphoacetylglucosamine mutase; N-acetylglucosamine-phosphate mutase 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186846", "id": "NP_001186846" }, { "name": "phosphoacetylglucosamine mutase isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186846", "id": "NP_001186846" } ], "function": [ { "annotation": "Catalyzes the conversion of GlcNAc-6-P into GlcNAc-1-P during the synthesis of uridine diphosphate/UDP-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways including protein N- and O-glycosylation.", "evidence": [ { "database": "UniProtKB", "id": "A0A494C1Q4", "url": "https://www.uniprot.org/uniprot/A0A494C1Q4#function" }, { "database": "UniProtKB", "id": "PIRNR016408", "url": "https://www.uniprot.org/uniprot/PIRNR016408#function" }, { "database": "UniProtKB", "id": "O95394", "url": "https://www.uniprot.org/uniprot/O95394#function" }, { "database": "PubMed", "id": "24589341", "url": "https://glygen.org/publication/PubMed/24589341" }, { "database": "PubMed", "id": "24931394", "url": "https://glygen.org/publication/PubMed/24931394" }, { "database": "PubMed", "id": "24698316", "url": "https://glygen.org/publication/PubMed/24698316" }, { "database": "UniProtKB", "id": "A0A494C1E2", "url": "https://www.uniprot.org/uniprot/A0A494C1E2#function" }, { "database": "UniProtKB", "id": "A0A8V8TLT8", "url": "https://www.uniprot.org/uniprot/A0A8V8TLT8#function" }, { "database": "UniProtKB", "id": "A0A8V8TNH4", "url": "https://www.uniprot.org/uniprot/A0A8V8TNH4#function" }, { "database": "UniProtKB", "id": "A0A494C0G1", "url": "https://www.uniprot.org/uniprot/A0A494C0G1#function" }, { "database": "UniProtKB", "id": "H0Y987", "url": "https://www.uniprot.org/uniprot/H0Y987#function" }, { "database": "UniProtKB", "id": "A0A8V8TMH7", "url": "https://www.uniprot.org/uniprot/A0A8V8TMH7#function" } ] }, { "annotation": "Multi-Omics Profiling in PGM3 and STAT3 Deficiencies: A Tale of Two Patients. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001186846", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186846" }, { "database": "PubMed", "id": "36768728", "url": "https://glygen.org/publication/PubMed/36768728" } ] }, { "annotation": "PGM(3) is identical to AGM(1).", "evidence": [ { "database": "RefSeq", "id": "NP_001186846", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186846" }, { "database": "PubMed", "id": "12174217", "url": "https://glygen.org/publication/PubMed/12174217" } ] }, { "annotation": "PGM3 regulates beta-catenin activity to promote colorectal cancer cell progression.", "evidence": [ { "database": "RefSeq", "id": "NP_001186846", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186846" }, { "database": "PubMed", "id": "35723049", "url": "https://glygen.org/publication/PubMed/35723049" } ] }, { "annotation": "Targeting PGM3 as a Novel Therapeutic Strategy in KRAS/LKB1 Co-Mutant Lung Cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001186846", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186846" }, { "database": "PubMed", "id": "35011738", "url": "https://glygen.org/publication/PubMed/35011738" } ] }, { "annotation": "This gene encodes a member of the phosphohexose mutase family. The encoded protein mediates both glycogen formation and utilization by catalyzing the interconversion of glucose-1-phosphate and glucose-6-phosphate. A non-synonymous single nucleotide polymorphism in this gene may play a role in resistance to diabetic nephropathy and neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001186846", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186846" } ] } ], "disease": [ { "disease_id": "DOID:0111953", "recommended_name": { "id": "DOID:0111953", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111953", "name": "immunodeficiency 23", "description": "A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the PGM3 gene on chromosome 6q14.1." }, "synonyms": [ { "id": "DOID:0111953", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111953", 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"MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"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": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95394", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95394" } ], "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": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O95394", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95394" } ], "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 cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95394" } ], "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": 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"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 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"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": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O95394", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95394" } ], "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 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95394", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95394" } ], "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": "O95394", "url": 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{ "id": "D6RF77-1", "url": "https://www.uniprot.org/uniprot/D6RF77-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RIS6", "url": "https://www.uniprot.org/uniprot/D6RIS6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RIS6-1", "url": "https://www.uniprot.org/uniprot/D6RIS6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y8I3", "url": "https://www.uniprot.org/uniprot/H0Y8I3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y8I3-1", "url": "https://www.uniprot.org/uniprot/H0Y8I3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y987", "url": "https://www.uniprot.org/uniprot/H0Y987", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y987-1", "url": "https://www.uniprot.org/uniprot/H0Y987-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KN95", "url": "https://www.uniprot.org/uniprot/J3KN95", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KN95-1", "url": "https://www.uniprot.org/uniprot/J3KN95-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95394", "url": "https://www.uniprot.org/uniprot/O95394", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95394-1", "url": "https://www.uniprot.org/uniprot/O95394-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95394-3", "url": "https://www.uniprot.org/uniprot/O95394-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95394-4", "url": "https://www.uniprot.org/uniprot/O95394-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "S4R390", "url": "https://www.uniprot.org/uniprot/S4R390", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "S4R390-1", "url": "https://www.uniprot.org/uniprot/S4R390-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDLGAITKYSALHAKPNGLILQYGTAGFRTKAEHLDHVMFRMGLLAVLRSKQTKSTIGVMVTASHNPEEDNGVKLVDPLGEMLAPSWEEHATCLANAEEQDMQRVLIDISEKEAVNLQQDAFVVIGRDTRPSSEKLSQSVIDGVTVLGGQFHDYGLLTTPQLHYMVYCRNTGGRYGKATIEGYYQKLSKAFVELTKQASCSGDEYRSLKVDCANGIGALKLREMEHYFSQGLSVQLFNDGSKGKLNHLCGADFVKSHQKPPQGMEIKSNERCCSFDGDADRIVYYYHDADGHFHLIDGDKIATLISSFLKELLVEIGESLNIGVVQTAYANGSSTRYLEEVMKVPVYCTKTGVKHLHHKAQEFDIGVYFEANGHGTALFSTAVEMKIKQSAEQLEDKKRKAAKMLENIIDLFNQAAGDAISDMLVIEAILALKGLTVQQWDALYTDLPNRQLKVQVADRRVISTTDAERQAVTPPGLQEAINDLVKKYKLSRAFVRPSGTEDVVRVYAEADSQESADHLAHEVSLAVFQLAGGIGERPQPGF", "length": 542, "header": "sp|O95394-1|AGM1_HUMAN Isoform 1 of Phosphoacetylglucosamine mutase OS=Homo sapiens OX=9606 GN=PGM3 PE=1 SV=1 CANONICAL=O95394-1" }, "isoforms": [ { "isoform_ac": "A0A087WT27-1", "url": "", "sequence": { "sequence": 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"sequence": { "sequence": "MDLGAITKYSALHAKPNGLILQYGTAGFRTKAEHLDHVMFRMGLLAVLRSKQTKSTIGVMVTASHNPEEDNGVKLVDPLGEMLAPSWEEHATCLANAEEQDMQRVLIDISEKEAVNLQQDAFVVIGRDTRPSSEKLSQSVIDGVTVLGGQFHDYGLLTTPQLHYMVYCRNTGGRYGKATIEGYYQKLSKAFVELTKQASCSGDEYRSLKVDCANGIGALKLREMEHYFSQGLSVQLFNDGSKGKLNHLCGADFVKSHQKPPQDWRKFEYWCCTNCICKWKFNTVS", "length": 285, "header": "tr|A0A494C099-1|A0A494C099_HUMAN Computationally mapped isoform of Phosphoglucomutase 3 OS=Homo sapiens OX=9606 GN=PGM3 PE=1 SV=1 CANONICAL=O95394-1" }, "locus": { "chromosome": "6", "start_pos": 83191012, "end_pos": 83178689, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000650640.1", "url": "https://www.ensembl.org/id/ENST00000650640.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498423.1", "url": "https://www.ensembl.org/id/ENSP00000498423.1" } ] } }, { "isoform_ac": "A0A494C0G1-1", "url": "", "sequence": { "sequence": "MDLGAITKYSALHAKPNGLILQYGTAGFRTKAEHLDHVMFRMGLLAVLRSKQTKSTIGVMVTASHNPEEDNGVKLVDPLGEMLAPSWEEHATCLANAEEQDMQRVLIDISEKEAVNLQQDAFVVIGRDTRPSSEKLSQSVIDGVTVLGGQFHDYGLLTTPQLHYMVYCRNTGGRYGKATIEGYYQKLSKAFVELTKQASCSGDEYRSLKVDCANGIGALKLREMEHYFSQGLSVQLFNDGSKGKLNHLCGADFVKSHQKPPQGMEIKSNERCCSFDGDADRIVYYYHDADGHFHLIDGDKIATLISSFLKELLVEIGESLNIGVVQTAYANGSSTRYLEEVMKVPVYCTKTGVKHLHHKAQEFDIGVYFEANGHGTALFSTAVEMKIKQSAEQLEDKKRKAAKMLENIIDLFNQVADRRVISTTDAERQAVTPPGLQEAINDLVKKYKLSRAFVRPSGTEDVVRVYAEADSQESADHLAHEVSLAVFQLAGGIGERPQPGF", "length": 501, "header": "tr|A0A494C0G1-1|A0A494C0G1_HUMAN Computationally mapped isoform of Phosphoacetylglucosamine mutase OS=Homo sapiens OX=9606 GN=PGM3 PE=1 SV=1 CANONICAL=O95394-1" }, "locus": { "chromosome": "6", "start_pos": 83191012, "end_pos": 83169237, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000650642.1", "url": "https://www.ensembl.org/id/ENST00000650642.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498516.1", "url": "https://www.ensembl.org/id/ENSP00000498516.1" } ] } }, { "isoform_ac": "A0A494C163-1", "url": "", "sequence": { "sequence": "MDLGAITKYSALHAKPNGLILQYGTAGFRTKAEHLDHVMFRMGLLAVLRSKQTKSTIGVMVTASHNPEEDNGVKLVDPLGEMLAPSWEEHATCLANAEEQDMQRVLIDISEKEAVNLQQDAFVVIGRDTRPSSEKLSQSVIDGVTVLGGQFHDYGLLTTPQLHYMVYCRNTGGRYGKATIEGYYQKLSKAFVELTKQASCSGDEYRSLKVDCANGIGALKLREMEHYFSQGLSVQLFNDGSKGKLNHLCGADFVKSHQKPPQGTV", "length": 265, "header": "tr|A0A494C163-1|AGM1_HUMAN Computationally mapped isoform of Phosphoacetylglucosamine mutase OS=Homo sapiens OX=9606 GN=PGM3 PE=1 SV=2 CANONICAL=O95394-1" }, "locus": { "chromosome": "6", "start_pos": 83191012, "end_pos": 83174480, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000651204.2", "url": "https://www.ensembl.org/id/ENST00000651204.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000498912.2", "url": "https://www.ensembl.org/id/ENSP00000498912.2" } ] } }, { "isoform_ac": "A0A494C1E2-1", "url": "", "sequence": { "sequence": "MLAPSWEEHATCLANAEEQDMQRVLIDISEKEAVNLQQDAFVVIGRDTRPSSEKLSQSVIDGVTVLGGQFHDYGLLTTPQLHYMVYCRNTGGRYGKATIEGYYQKLSKAFVELTKQASCSGDEYRSLKVDCANGIGALKLREMEHYFSQGLSVQLFNDGSKGKLNHLCGADFVKSHQKPPQGMEIKSNERCCSFDGDADRIVYYYHDADGHFHLIDGDKIATLISSFLKELLVEIGESLNIGVVQTAYANGSSTRYLEEVMKVPVYCTKTGVKHLHHKAQEFDIGVYFEANGHGTALFSTAVEMKIKQSAEQLEDKKRKAAKMLENIIDLFNQAAGDAISDMLVIEAILALKGLTVQQWDALYTDLPNRQLKVQVADRRVISTTDAERQAVTPPGLQEAINDLVKKYKLSRAFVRPSGTEDVVRVYAEADSQESADHLAHEVSLAVFQLAGGIGERPQPGF", "length": 461, "header": "tr|A0A494C1E2-1|A0A494C1E2_HUMAN Computationally mapped isoform of Phosphoacetylglucosamine mutase OS=Homo sapiens OX=9606 GN=PGM3 PE=1 SV=1 CANONICAL=O95394-1" }, "locus": { "chromosome": "6", "start_pos": 83188759, "end_pos": 83169237, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698610.1", "url": "https://www.ensembl.org/id/ENST00000698610.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513837.1", "url": "https://www.ensembl.org/id/ENSP00000513837.1" } ] } }, { "isoform_ac": "A0A494C1Q4-1", "url": "", "sequence": { "sequence": "MDLGAITKYSALHAKPNGLILQYGTAGFRTKAEHLDHVMFRMGLLAVLRSKQTKSTIGVMVTASHNPEEDNGVKLVDPLGEMLAPSWEEHATCLANAEEQDMQRVLIDISEKEAVNLQQDAFVVIGRDTRPSSEKLSQSVIDGVTVLGGQFHDYGLLTTPQLHYMVYCRNTGGRYGKATIEGYYQKLSKAFVELTKQASCSGDEYRSLKVDCANGIGALKLREMEHYFSQGLSVQLFNDGSKGKLNHLCGADFVKSHQKPPQGMEIKSNERCCSFDGDADRIVYYYHDADGHFHLIDGDKIATLISSFLKELLVEIGESLNIGVVQTAYANGSSTRYLEEVMKALFSTAVEMKIKQSAEQLEDKKRKAAKMLENIIDLFNQAAGDAISDMLVIEAILALKGLTVQQWDALYTDLPNRQLKVQVADRRVISTTDAERQAVTPPGLQEAINDLVKKYKLSRAFVRPSGTEDVVRVYAEADSQESADHLAHEVSLAVFQLAGGIGERPQPGF", "length": 509, "header": "tr|A0A494C1Q4-1|AGM1_HUMAN Computationally mapped isoform of Phosphoacetylglucosamine mutase OS=Homo sapiens OX=9606 GN=PGM3 PE=1 SV=2 CANONICAL=O95394-1" }, "locus": { "chromosome": "6", "start_pos": 83191012, "end_pos": 83169237, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000652222.2", "url": "https://www.ensembl.org/id/ENST00000652222.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000499141.2", "url": "https://www.ensembl.org/id/ENSP00000499141.2" } ] } }, { "isoform_ac": "A0A8V8TLT8-1", "url": "", "sequence": { "sequence": "MDLGAITKYSALHAKPNGLILQYGTAGFRTKAEHLDHVMFRMGLLAVLRSKQTKSTIGVMVTASHNPEEDNGVKLVDPLGEMLAPSWEEHATCLANAEEQDMQRVLIDISEKEAVNLQQDAFVVIGRDTRPSSEKLSQSVIDGVTVLGGQFHDYGLLTTPQLHYMVYCRNTGGRYGKATIEGYYQKLSKAFVELTKQASCSGDEYRSLKVDCANGIGALKLREMEHYFSQGLSVQLFNDGSKGKLNHLCGADFVKSHQKPPQGMEIKSNERCCSFDGDADRIVYYYHDADGHFHLIDGDKIATLISSFLKELLVEIGESLNIGVVQTAYANGSSTRYLEEVMKVPVYCTKTGVKHLHHKAQEFDIGVYFEANGHGTALFSTAVEMKIKQSAEQLEDKKRKAAKMLENIIDLFNQAAGDAISDMLVIEAILALKGLTVQQWDALYTDLPNRQLKVQVADRRVISTTDAERQAVTPPGLQEAINDLVKKYKLSRAFVRPSGTEDVVRVYAEADSQVSWDSSIEKEPNIR", "length": 527, "header": "tr|A0A8V8TLT8-1|A0A8V8TLT8_HUMAN Computationally mapped isoform of Phosphoacetylglucosamine mutase OS=Homo sapiens OX=9606 GN=PGM3 PE=1 SV=1 CANONICAL=O95394-1" }, "locus": { "chromosome": "6", "start_pos": 83191012, "end_pos": 83170263, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698526.1", "url": "https://www.ensembl.org/id/ENST00000698526.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513775.1", "url": "https://www.ensembl.org/id/ENSP00000513775.1" } ] } }, { "isoform_ac": "A0A8V8TM25-1", "url": "", "sequence": { "sequence": "MDLGAITKYSALHAKPNGLILQYGTAGFRTKAEHLDHVMFRMGLLAVLRSKQTKSTIGVMVTASHNPEEDNGVKLVDPLGEMLAPSWEEHATCLANAEEQDMQRVLIDISEKEAVNLQQDAFVVIGRDTRPSSEKLSQSVIDGVTVLGGQFHDYGLLTTPQLHYMVYCRNTGGRYGKATIEGYYQKLSKAFVELTKQVPVYCTKTGVKHLHHKAQEFDIGVYFEANGHGTALFSTAVEMKIKQSAEQLEDKKRKAAKMLENIIDLFNQAAGDAISDMLVIEAILALKGLTVQQWDALYTDLPNRQLKVQVADRRVISTTDAERQAVTPPGLQEAINDLVKKYKLSRAFVRPSGTEDVVRVYAEADSQESADHLAHEVSLAVFQLAGGIGERPQPGF", "length": 396, "header": "tr|A0A8V8TM25-1|A0A8V8TM25_HUMAN Computationally mapped isoform of phosphoacetylglucosamine mutase OS=Homo sapiens OX=9606 GN=PGM3 PE=1 SV=1 CANONICAL=O95394-1" }, "locus": { "chromosome": "6", "start_pos": 83191012, "end_pos": 83169237, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698612.1", "url": "https://www.ensembl.org/id/ENST00000698612.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513838.1", "url": "https://www.ensembl.org/id/ENSP00000513838.1" } ] } }, { "isoform_ac": "A0A8V8TMH7-1", "url": "", "sequence": { "sequence": "MDLGAITKYSALHAKPNGLILQYGTAGFRTKAEHLDHVMFRMGLLAVLRSKQTKSTIGVMVTASHNPEEDNGVKLVDPLGEMLAPSWEEHATCLANAEEQDMQRVLIDISEKEAVNLQQDAFVVIGRDTRPSSEKLSQSVIDGVTVLGGQFHDYGLLTTPQLHYMVYCRNTGGRYGKATIEGYYQKLSKAFVELTKQASCSGDEYRSLKVDCANGIGALKLREMEHYFSQGLSVQLFNDGSKGKLNHLCGADFVKSHQKPPQGMEIKSNERCCSFDGDADRIVYYYHDADGHFHLIDGDKIATLISSFLKELLVEIGESLNIGVVQTAYANGSSTRYLEEVMKVPVYCTKTGVKHLHHKAQEFDIGVYFEANGHGTALFSTAVEMKIKQSAEQLEDKKRKAAKMLENIIDLFNQAAGDAISDMLVIEAILALKGLTVQQWDALYTDLPNRQLKVQVADRRVISTTDAERQAVTPPGLQEAINDLVKKYKLSRAFVRPSGTEDVVRVYAEADSQESADHLAHEVSLAVFQLAGGIGERPQPVTNILTKRIN", "length": 550, "header": "tr|A0A8V8TMH7-1|A0A8V8TMH7_HUMAN Computationally mapped isoform of Phosphoacetylglucosamine mutase OS=Homo sapiens OX=9606 GN=PGM3 PE=1 SV=1 CANONICAL=O95394-1" }, "locus": { "chromosome": "6", "start_pos": 83191012, "end_pos": 83161214, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698599.1", "url": "https://www.ensembl.org/id/ENST00000698599.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513827.1", "url": "https://www.ensembl.org/id/ENSP00000513827.1" } ] } }, { "isoform_ac": "A0A8V8TMI1-1", "url": "", "sequence": { "sequence": "MLAPSWEEHATCLANAEEQDMQRVLIDISEKEAVNLQQDAFVVIGRDTRPSSEKLSQSVIDGVTVLGGQFHDYGLLTTPQLHYMVYCRNTGGRYGKATIEGYYQKLSKAFVELTKQASCSGDEYRSLKVDCANGIGALKLREMEHYFSQGLSVQLFNDGSKGKLNHLCGADFVKSHQKPPQGMEIKSNERCCSFDGDADRIVYYYHDADGHFHLIDGDKIATLISSFLKELLVEIGESLNIGVVQTAYANGSSTRYLEEVMKALFSTAVEMKIKQSAEQLEDKKRKAAKMLENIIDLFNQAAGDAISDMLVIEAILALKGLTVQQWDALYTDLPNRQLKVQVADRRVISTTDAERQAVTPPGLQEAINDLVKKYKLSRAFVRPSGTEDVVRVYAEADSQESADHLAHEVSLAVFQLAGGIGERPQPGF", "length": 428, "header": "tr|A0A8V8TMI1-1|A0A8V8TMI1_HUMAN Computationally mapped isoform of phosphoacetylglucosamine mutase OS=Homo sapiens OX=9606 GN=PGM3 PE=1 SV=1 CANONICAL=O95394-1" }, "locus": { "chromosome": "6", "start_pos": 83188759, "end_pos": 83169237, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698608.1", "url": "https://www.ensembl.org/id/ENST00000698608.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513835.1", "url": "https://www.ensembl.org/id/ENSP00000513835.1" } ] } }, { "isoform_ac": "A0A8V8TNG4-1", "url": "", "sequence": { "sequence": "MDLGAITKYSALHAKPNGLILQYGTAGFRTKAEHLDHVMFRMGLLAVLRSKQTKSTIGVMVTASHNPEEDNGVKLVDPLGEMLAPSWEEHATCLANAEEQDMQRVLIDISEKEAVNLQQDAFVVIGPAVRNFHNL", "length": 135, "header": "tr|A0A8V8TNG4-1|AGM1_HUMAN Computationally mapped isoform of Phosphoacetylglucosamine mutase OS=Homo sapiens OX=9606 GN=PGM3 PE=1 SV=1 CANONICAL=O95394-1" }, "locus": { "chromosome": "6", "start_pos": 83191012, "end_pos": 83187047, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698601.1", "url": "https://www.ensembl.org/id/ENST00000698601.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513829.1", "url": "https://www.ensembl.org/id/ENSP00000513829.1" } ] } }, { "isoform_ac": "A0A8V8TNH4-1", "url": "", "sequence": { "sequence": "MDLGAITKYSALHAKPNGLILQYGTAGFRTKAEHLDHVMFRMGLLAVLRSKQTKSTIGVMVTASHNPEEDNGVKLVDPLGEMLAPSWEEHATCLANAEEQDMQRVLIDISEKEAVNLQQDAFVVIGRDTRPSSEKLSQSVIDGVTVLGGQFHDYGLLTTPQLHYMVYCRNTGGRYGKATIEGYYQKLSKAFVELTKQASCSGDEYRSLKVDCANGIGALKLREMEHYFSQGLSVQLFNDGSKGKLNHLCGADFVKSHQKPPQGMEIKSNERCCSFDGDADRIVYYYHDADGHFHLIDGDKIATLISSFLKELLVEIGESLNIGVVQTAYANGSSTRYLEEVMKALFSTAVEMKIKQSAEQLEDKKRKAAKMLENIIDLFNQAAGDAISDMLVIEAILALKGLTVQQWDALYTDLPNRQLKVQVADRRVISTTDAERQAVTPPGLQEAINDLVKKYKLSRAFVRPSGTEDVVRVYAEADSQVSWDSSIEKEPNIR", "length": 494, "header": "tr|A0A8V8TNH4-1|AGM1_HUMAN Computationally mapped isoform of Phosphoacetylglucosamine mutase OS=Homo sapiens OX=9606 GN=PGM3 PE=1 SV=1 CANONICAL=O95394-1" }, "locus": { "chromosome": "6", "start_pos": 83191012, "end_pos": 83170263, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698613.1", "url": "https://www.ensembl.org/id/ENST00000698613.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513839.1", "url": "https://www.ensembl.org/id/ENSP00000513839.1" } ] } }, { "isoform_ac": "A0A8V8TNM1-1", "url": "", "sequence": { "sequence": "MDLGAITKYSALHAKPNGLILQYGTAGFRTKAEHLDHVMFRMGLLAVLRSKQTKSTIGVMVTASHNPEALFSTAVEMKIKQSAEQLEDKKRKAAKMLENIIDLFNQAAGDAISDMLVIEAILALKGLTVQQWDALYTDLPNRQLKVQVADRRVISTTDAERQAVTPPGLQEAINDLVKKYKLSRAFVRPSGTEDVVRVYAEADSQVSWDSSIEKEPNIR", "length": 219, "header": "tr|A0A8V8TNM1-1|A0A8V8TNM1_HUMAN Computationally mapped isoform of Phosphoglucomutase 3 OS=Homo sapiens OX=9606 GN=PGM3 PE=1 SV=1 CANONICAL=O95394-1" }, "locus": { "chromosome": "6", "start_pos": 83191012, "end_pos": 83170263, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698525.1", "url": "https://www.ensembl.org/id/ENST00000698525.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513774.1", "url": "https://www.ensembl.org/id/ENSP00000513774.1" } ] } }, { "isoform_ac": "A0A8V8TNT6-1", "url": "", "sequence": { "sequence": "MDLGAITKYSALHAKPNGLILQYGTAGFRTKAEHLDHVMFRMGLLAVLRSKQTKSTIGVMVTASHNPEAQQ", "length": 71, "header": "tr|A0A8V8TNT6-1|AGM1_HUMAN Computationally mapped isoform of Phosphoacetylglucosamine mutase OS=Homo sapiens OX=9606 GN=PGM3 PE=1 SV=1 CANONICAL=O95394-1" }, "locus": { "chromosome": "6", "start_pos": 83191012, "end_pos": 83187067, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698615.1", "url": "https://www.ensembl.org/id/ENST00000698615.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513841.1", "url": "https://www.ensembl.org/id/ENSP00000513841.1" } ] } }, { "isoform_ac": "D6RC77-1", "url": "", "sequence": { "sequence": "MGGEWGQSAICPESAQEWTYQVGQHLVDMDLGAITKYSALHAKPNGLILQYGTAGFRTKAEHLDHVMFRMGLLAVLRSKQTKSTIGVMVTASHNPEEDNGVKLVDPLGEMLAPS", "length": 114, "header": "tr|D6RC77-1|D6RC77_HUMAN Computationally mapped isoform of Phosphoglucomutase 3 OS=Homo sapiens OX=9606 GN=PGM3 PE=1 SV=1 CANONICAL=O95394-1" }, "locus": { "chromosome": "6", "start_pos": 83191268, "end_pos": 83188745, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000503094.1", "url": "https://www.ensembl.org/id/ENST00000503094.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000422362.1", "url": "https://www.ensembl.org/id/ENSP00000422362.1" } ] } }, { "isoform_ac": "D6RCD1-1", "url": "", "sequence": { "sequence": "MDLGAITKYSALHAKPNGLILQYGTAGFRTKAEHLDHVMFRMGLLAVLRSKQTKSTIGVMVTASHNPETMV", "length": 71, "header": "tr|D6RCD1-1|AGM1_HUMAN Computationally mapped isoform of Phosphoacetylglucosamine mutase OS=Homo sapiens OX=9606 GN=PGM3 PE=1 SV=1 CANONICAL=O95394-1" }, "locus": { "chromosome": "6", "start_pos": 83191012, "end_pos": 83188786, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698618.1", "url": "https://www.ensembl.org/id/ENST00000698618.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513842.1", "url": "https://www.ensembl.org/id/ENSP00000513842.1" } ] } }, { "isoform_ac": "D6RCQ8-1", "url": "", "sequence": { "sequence": "MDLGAITKYSALHAKPNGLILQYGTAGFRTKAEHLDHVMFRMGLLAVLRSKQTKSTIGVMVTASHNPEEDNGVKLVDPLGEMLAPSWEEHATCLANAEEQDMQRVLIDISEKEAVNLQQDAFVVIGRDTRPSSEKLSQSVIDGVTV", "length": 146, "header": "tr|D6RCQ8-1|D6RCQ8_HUMAN Computationally mapped isoform of Phosphoacetylglucosamine mutase OS=Homo sapiens OX=9606 GN=PGM3 PE=1 SV=8 CANONICAL=O95394-1" }, "locus": { "chromosome": "6", "start_pos": 83191012, "end_pos": 83169237, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000507554.1", "url": "https://www.ensembl.org/id/ENST00000507554.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000425558.1", "url": "https://www.ensembl.org/id/ENSP00000425558.1" } ] } }, { "isoform_ac": "D6RF77-1", "url": "", "sequence": { "sequence": "MGGEWGQSAICPESAQEWTYQVGQHLVDMDLGAITKYSALHAKPNGLILQYGTAGFRTKAEHLDHVMFRMGLLAVLRSKQTKSTIGVMVTASHNPEEDNGVKLVDPLGEMLAPSWEEHATCLANAEEQDMQRVLIDISEKEAVNLQQDAFVVIGRD", "length": 156, "header": "tr|D6RF77-1|AGM1_HUMAN Computationally mapped isoform of Phosphoacetylglucosamine mutase OS=Homo sapiens OX=9606 GN=PGM3 PE=1 SV=8 CANONICAL=O95394-1" }, "locus": { "chromosome": "6", "start_pos": 83191268, "end_pos": 83169237, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000508748.5", "url": "https://www.ensembl.org/id/ENST00000508748.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000424865.1", "url": "https://www.ensembl.org/id/ENSP00000424865.1" } ] } }, { "isoform_ac": "D6RIS6-1", "url": "", "sequence": { "sequence": "MLAPSWEEHATCLANAEEQDMQRVLIDISEKEAVNLQQDAFVVIGRDTRPSSEKLSQSVIDGVTVLGGQFHDYGLLTTPQLHYMVYCRNTGGRYGKATIEGYYQKLSKAFVELTKQASCSGDEYRSLKVDCANGIGALKLREMEHYFSQGLSVQLFNDGSKGKLNHLCGADF", "length": 172, "header": "tr|D6RIS6-1|D6RIS6_HUMAN Computationally mapped isoform of Phosphoglucomutase 3 OS=Homo sapiens OX=9606 GN=PGM3 PE=1 SV=8 CANONICAL=O95394-1" }, "locus": { "chromosome": "6", "start_pos": 83188759, "end_pos": 83181764, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000510258.1", "url": "https://www.ensembl.org/id/ENST00000510258.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000427420.1", "url": "https://www.ensembl.org/id/ENSP00000427420.1" } ] } }, { "isoform_ac": "H0Y8I3-1", "url": "", "sequence": { "sequence": "MDLGAITKYSALHAKPNGLILQYGTAGFRTKAEHLDHVMFRMGLLAVLRSKQTKSTIGVMVTASHNPEEDNGVKLVDPLGEMLAPSWEEHATCLANAEEQDMQRVLIDISEKEAVNLQQDAFVVIGRDTRPSSEKLSQSVIDGVTVLGGQFHDYGLLTTPQLHYMVYCRNTGGRYGKATIEGYYQKLSKAFVELTKQASCSGDEYRSLKVDCANGIGALKLREMEHYFSQGLSVQLFNDGSKGKLNHLCGADFVKSHQKPPQGTCLLH", "length": 268, "header": "tr|H0Y8I3-1|AGM1_HUMAN Computationally mapped isoform of Phosphoacetylglucosamine mutase OS=Homo sapiens OX=9606 GN=PGM3 PE=1 SV=2 CANONICAL=O95394-1" }, "locus": { "chromosome": "6", "start_pos": 83191012, "end_pos": 83176044, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000651698.2", "url": "https://www.ensembl.org/id/ENST00000651698.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000498398.2", "url": "https://www.ensembl.org/id/ENSP00000498398.2" } ] } }, { "isoform_ac": "H0Y987-1", "url": "", "sequence": { "sequence": "MDLGAITKYSALHAKPNGLILQYGTAGFRTKAEHLDHVMFRMGLLAVLRSKQTKSTIGVMVTASHNPEEDNGVKLVDPLGEMLAPSWEEHATCLANAEEQDMQRVLIDISEKEAVNLQQDAFVVIGRDTRPSSEKLSQSVIDGVTVLGGQFHDYGLLTTPQLHYMVYCRNTGGRYGKATIEGYYQKLSKAFVELTKQASCSGDEYRSLKVDCANGIGALKLREMEHYFSQGLSVQLFNDGSKGKLNHLCGADFVKSHQKPPQGMEIKSNERCCSFDGDADRIVYYYHDADGHFHLIDGDKIATLISSFLKELLVEIGESLNIGVVQTAYANGSSTRYLEEVMKVPVYCTKTGVKHLHHKAQEFDIGVYFEANGHGTALFSTAVEMKIKQSAEQLEDKKRKAAKMLENIIDLFNQAAGDAISDMLVIEAILALKGLTVQQWDALYTDLPNRQLKVQVADRRVISTTDAERQAVTPPGLQEAINDLVKKYKLSRAFVRPSGTEDVVRVYAEADSQGSRLVVWIFIIWPLHILLKVCAKPGQSTVSALNRESGGDIWQLSCRSLSHLRV", "length": 566, "header": "tr|H0Y987-1|H0Y987_HUMAN Computationally mapped isoform of Phosphoacetylglucosamine mutase OS=Homo sapiens OX=9606 GN=PGM3 PE=1 SV=2 CANONICAL=O95394-1" }, "locus": { "chromosome": "6", "start_pos": 83191012, "end_pos": 83169683, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000509219.2", "url": "https://www.ensembl.org/id/ENST00000509219.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000423389.2", "url": "https://www.ensembl.org/id/ENSP00000423389.2" } ] } }, { "isoform_ac": "J3KN95-1", "url": "", "sequence": { "sequence": "MLAPSWEEHATCLANAEEQDMQRVLIDISEKEAVNLQQDAFVVIGRDTRPSSEKLSQSVIDGVTVLGGQFHDYGLLTTPQLHYMVYCRNTGGRYGKATIEGYYQKLSKAFVELTKQASCSGDEYRSLKVDCANGIGALKLREMEHYFSQGLSVQLFNDGSKGKLNHLCGADFVKSHQKPPQGMEIKSNERCCSFDGDADRIVYYYHDADGHFHLIDGDKIATLISSFLKELLVEIGESLNIGVVQTAYANGSSTRYLEEVMKVPVYCTKTGVKHLHHKAQEFDIGVYFEANGHGTALFSTAVEMKIKQSAEQLEDKKRKAAKMLENIIDLFNQAAGDAISDMLVIEAILALKGLTVQQWDALYTDLPNRQLKVQVADRRVISTTDAERQAVTPPGLQEAINDLVKKYKLSRAFVRPSGTEDVVRVYAEADSQVRKCRSPCT", "length": 441, "header": "tr|J3KN95-1|AGM1_HUMAN Computationally mapped isoform of Phosphoacetylglucosamine mutase OS=Homo sapiens OX=9606 GN=PGM3 PE=1 SV=2 CANONICAL=O95394-1" }, "locus": { "chromosome": "6", "start_pos": 83188759, "end_pos": 83169301, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000283977.9", "url": "https://www.ensembl.org/id/ENST00000283977.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000283977.5", "url": "https://www.ensembl.org/id/ENSP00000283977.5" } ] } }, { "isoform_ac": "O95394-1", "url": "", "sequence": { "sequence": "MDLGAITKYSALHAKPNGLILQYGTAGFRTKAEHLDHVMFRMGLLAVLRSKQTKSTIGVMVTASHNPEEDNGVKLVDPLGEMLAPSWEEHATCLANAEEQDMQRVLIDISEKEAVNLQQDAFVVIGRDTRPSSEKLSQSVIDGVTVLGGQFHDYGLLTTPQLHYMVYCRNTGGRYGKATIEGYYQKLSKAFVELTKQASCSGDEYRSLKVDCANGIGALKLREMEHYFSQGLSVQLFNDGSKGKLNHLCGADFVKSHQKPPQGMEIKSNERCCSFDGDADRIVYYYHDADGHFHLIDGDKIATLISSFLKELLVEIGESLNIGVVQTAYANGSSTRYLEEVMKVPVYCTKTGVKHLHHKAQEFDIGVYFEANGHGTALFSTAVEMKIKQSAEQLEDKKRKAAKMLENIIDLFNQAAGDAISDMLVIEAILALKGLTVQQWDALYTDLPNRQLKVQVADRRVISTTDAERQAVTPPGLQEAINDLVKKYKLSRAFVRPSGTEDVVRVYAEADSQESADHLAHEVSLAVFQLAGGIGERPQPGF", "length": 542, "header": "sp|O95394-1|AGM1_HUMAN Isoform 1 of Phosphoacetylglucosamine mutase OS=Homo sapiens OX=9606 GN=PGM3 PE=1 SV=1 CANONICAL=O95394-1" }, "locus": { "chromosome": "6", "start_pos": 83191012, "end_pos": 83169237, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698524.1", "url": "https://www.ensembl.org/id/ENST00000698524.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513773.1", "url": "https://www.ensembl.org/id/ENSP00000513773.1" } ] } }, { "isoform_ac": "O95394-3", "url": "", "sequence": { "sequence": "MDLGAITKYSALHAKPNGLILQYGTAGFRTKAEHLDHVMFRMGLLAVLRSKQTKSTIGVMVTASHNPEEDNGVKLVDPLGEMLAPSWEEHATCLANAEEQDMQRVLIDISEKEAVNLQQDAFVVIGRDTRPSSEKLSQSVIDGVTVLGGQFHDYGLLTTPQLHYMVYCRNTGGRYGKATIEGYYQKLSKAFVELTKQASCSGDEYRSLKVDCANGIGALKLREMEHYFSQGLSVQLFNDGSKGKLNHLCGADFVKSHQKPPQGMEIKSNERCCSFDGDADRIVYYYHDADGHFHLIDGDKIATLISSFLKELLVEIGESLNIGVVQTAYANGSSTRYLEEVMKVPVYCTKTGVKHLHHKAQEFDIGVYFEANGHGTALFSTAVEMKIKQSAEQLEDKKRKAAKMLENIIDLFNQAAGDAISDMLVIEAILALKGLTVQQWDALYTDLPNRQLKVQVADRRVISTTDAERQAVTPPGLQEAINDLVKKYKLSRAFVRPSGTEDVVRVYAEADSQESADHLAHEVSLAVFQLAGGIGERPQPGYKAAETTHNINNAFGPGTANEHTVP", "length": 566, "header": "sp|O95394-3|AGM1_HUMAN Isoform 3 of Phosphoacetylglucosamine mutase OS=Homo sapiens OX=9606 GN=PGM3 PE=1 SV=1 CANONICAL=O95394-1" }, "locus": { "chromosome": "6", "start_pos": 83191012, "end_pos": 83166390, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000512866.5", "url": "https://www.ensembl.org/id/ENST00000512866.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000421565.1", "url": "https://www.ensembl.org/id/ENSP00000421565.1" } ] } }, { "isoform_ac": "O95394-4", "url": "", "sequence": { "sequence": "MGGEWGQSAICPESAQEWTYQVGQHLVDMDLGAITKYSALHAKPNGLILQYGTAGFRTKAEHLDHVMFRMGLLAVLRSKQTKSTIGVMVTASHNPEEDNGVKLVDPLGEMLAPSWEEHATCLANAEEQDMQRVLIDISEKEAVNLQQDAFVVIGRDTRPSSEKLSQSVIDGVTVLGGQFHDYGLLTTPQLHYMVYCRNTGGRYGKATIEGYYQKLSKAFVELTKQASCSGDEYRSLKVDCANGIGALKLREMEHYFSQGLSVQLFNDGSKGKLNHLCGADFVKSHQKPPQGMEIKSNERCCSFDGDADRIVYYYHDADGHFHLIDGDKIATLISSFLKELLVEIGESLNIGVVQTAYANGSSTRYLEEVMKVPVYCTKTGVKHLHHKAQEFDIGVYFEANGHGTALFSTAVEMKIKQSAEQLEDKKRKAAKMLENIIDLFNQAAGDAISDMLVIEAILALKGLTVQQWDALYTDLPNRQLKVQVADRRVISTTDAERQAVTPPGLQEAINDLVKKYKLSRAFVRPSGTEDVVRVYAEADSQESADHLAHEVSLAVFQLAGGIGERPQPGF", "length": 570, "header": "sp|O95394-4|AGM1_HUMAN Isoform 4 of Phosphoacetylglucosamine mutase OS=Homo sapiens OX=9606 GN=PGM3 PE=1 SV=1 CANONICAL=O95394-1" }, "locus": { "chromosome": "6", "start_pos": 83191268, "end_pos": 83169237, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000506587.5", "url": "https://www.ensembl.org/id/ENST00000506587.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000425809.1", "url": "https://www.ensembl.org/id/ENSP00000425809.1" } ] } }, { "isoform_ac": "S4R390-1", "url": "", "sequence": { "sequence": "DAFVVIGRDTR", "length": 11, "header": "tr|S4R390-1|S4R390_HUMAN Computationally mapped isoform of Phosphoglucomutase 3 OS=Homo sapiens OX=9606 GN=PGM3 PE=4 SV=1 CANONICAL=O95394-1" }, "locus": { "chromosome": "6", "start_pos": 83188645, "end_pos": 83188613, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000605602.1", "url": "https://www.ensembl.org/id/ENST00000605602.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000474029.1", "url": "https://www.ensembl.org/id/ENSP00000474029.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O95394", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95394" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" } ] } ], "phosphorylation": [ { "start_pos": 463, "end_pos": 463, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95394", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95394" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser463" }, { "start_pos": 62, "end_pos": 62, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O95394", "url": "https://www.uniprot.org/uniprot/O95394" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O95394", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95394" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "phospho.ELM", "id": "O95394", "url": "http://phospho.elm.eu.org/byAccession/O95394.html" } ], "site_lbl": "Thr62" }, { "start_pos": 64, "end_pos": 64, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95394", "url": "https://www.uniprot.org/uniprot/O95394" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O95394", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95394" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "phospho.ELM", "id": "O95394", "url": "http://phospho.elm.eu.org/byAccession/O95394.html" }, { "database": "PubMed", "id": "11004509", "url": "https://glygen.org/publication/PubMed/11004509" } ], "site_lbl": "Ser64" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "cDNA cloning and mapping of a novel subtype of glutamine:fructose-6-phosphate amidotransferase (GFAT2) in human and mouse.", "journal": "Genomics", "date": "1999", "authors": "Oki T, Yamazaki K, Kuromitsu J, Okada M, Tanaka I", "evidence": [ { "database": "Reactome", "id": "R-HSA-446210", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446210" } ], "reference": [ { "type": "PubMed", "id": "10198162", "url": "https://glygen.org/publication/PubMed/10198162" } ] }, { "title": "Cloning and characterization of complementary DNA encoding human N-acetylglucosamine-phosphate mutase protein.", "journal": "Gene", "date": "2000", "authors": "Li C, Rodriguez M, Banerjee D", "evidence": [ { "database": "UniProtKB", "id": "O95394", "url": "https://www.uniprot.org/uniprot/O95394" } ], "reference": [ { "type": "PubMed", "id": "10721701", "url": "https://glygen.org/publication/PubMed/10721701" } ] }, { "title": "Molecular cloning and characterization of murine and human N-acetylglucosamine kinase.", "journal": "European journal of biochemistry", "date": "2000", "authors": "Hinderlich S, Berger M, Schwarzkopf M, Effertz K, Reutter W", "evidence": [ { "database": "Reactome", "id": "R-HSA-446210", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446210" } ], "reference": [ { "type": "PubMed", "id": "10824116", "url": "https://glygen.org/publication/PubMed/10824116" } ] }, { "title": "Functional cloning and mutational analysis of the human cDNA for phosphoacetylglucosamine mutase: identification of the amino acid residues essential for the catalysis.", "journal": "Biochimica et biophysica acta", "date": "2000", "authors": "Mio T, Yamada-Okabe T, Arisawa M, Yamada-Okabe H", "evidence": [ { "database": "UniProtKB", "id": "O95394", "url": "https://www.uniprot.org/uniprot/O95394" }, { "database": "iPTMnet", "id": "O95394", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95394" } ], "reference": [ { "type": "PubMed", "id": "11004509", "url": "https://glygen.org/publication/PubMed/11004509" } ] }, { "title": "Crystal structures of two human pyrophosphorylase isoforms in complexes with UDPGlc(Gal)NAc: role of the alternatively spliced insert in the enzyme oligomeric assembly and active site architecture.", "journal": "The EMBO journal", "date": "2001", "authors": "Peneff C, Ferrari P, Charrier V, Taburet Y, Monnier C, Zamboni V, Winter J, Harnois M, Fassy F, Bourne Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-446210", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446210" } ], "reference": [ { "type": "PubMed", "id": "11707391", "url": "https://glygen.org/publication/PubMed/11707391" } ] }, { "title": "Effects of nucleotides on N-acetyl-d-glucosamine 2-epimerases (renin-binding proteins): comparative biochemical studies.", "journal": "Journal of biochemistry", "date": "2001", "authors": "Takahashi S, Hori K, Takahashi K, Ogasawara H, Tomatsu M, Saito K", "evidence": [ { "database": "Reactome", "id": "R-HSA-446210", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446210" } ], "reference": [ { "type": "PubMed", "id": "11726282", "url": "https://glygen.org/publication/PubMed/11726282" } ] }, { "title": "Identification of human phosphoglucomutase 3 (PGM3) as N-acetylglucosamine-phosphate mutase (AGM1).", "journal": "Annals of human genetics", "date": "2002", "authors": "Pang H, Koda Y, Soejima M, Kimura H", "evidence": [ { "database": "UniProtKB", "id": "O95394", "url": "https://www.uniprot.org/uniprot/O95394" }, { "database": "Reactome", "id": "R-HSA-446210", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446210" }, { "database": "RefSeq", "id": "NP_001186846", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186846" } ], "reference": [ { "type": "PubMed", "id": "12174217", "url": "https://glygen.org/publication/PubMed/12174217" } ] }, { "title": "Molecular cloning, cDNA sequence, and bacterial expression of human glutamine:fructose-6-phosphate amidotransferase.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "McKnight GL, Mudri SL, Mathewes SL, Traxinger RR, Marshall S, Sheppard PO, O'Hara PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-446210", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446210" } ], "reference": [ { "type": "PubMed", "id": "1460020", "url": "https://glygen.org/publication/PubMed/1460020" } ] }, { "title": "Structures of human N-Acetylglucosamine kinase in two complexes with N-Acetylglucosamine and with ADP/glucose: insights into substrate specificity and regulation.", "journal": "Journal of molecular biology", "date": "2006", "authors": "Weihofen WA, Berger M, Chen H, Saenger W, Hinderlich S", "evidence": [ { "database": "Reactome", "id": "R-HSA-446210", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446210" } ], "reference": [ { "type": "PubMed", "id": "17010375", "url": "https://glygen.org/publication/PubMed/17010375" } ] }, { "title": "Phosphopeptide enrichment by aliphatic hydroxy acid-modified metal oxide chromatography for nano-LC-MS/MS in proteomics applications.", "journal": "Molecular & cellular proteomics : MCP", "date": "2007", "authors": "Sugiyama N, Masuda T, Shinoda K, Nakamura A, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "O95394-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95394-1" } ], "reference": [ { "type": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "O95394-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95394-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O95394", "url": "https://www.uniprot.org/uniprot/O95394" }, { "database": "iPTMnet", "id": "O95394-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95394-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Acceptor substrate binding revealed by crystal structure of human glucosamine-6-phosphate N-acetyltransferase 1.", "journal": "FEBS letters", "date": "2008", "authors": "Wang J, Liu X, Liang YH, Li LF, Su XD", "evidence": [ { "database": "Reactome", "id": "R-HSA-446210", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446210" } ], "reference": [ { "type": "PubMed", "id": "18675810", "url": "https://glygen.org/publication/PubMed/18675810" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O95394-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95394-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "O95394", "url": "https://www.uniprot.org/uniprot/O95394" }, { "database": "iPTMnet", "id": "O95394", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95394" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "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": "UniProtKB", "id": "O95394", "url": "https://www.uniprot.org/uniprot/O95394" }, { "database": "iPTMnet", "id": "O95394-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95394-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "O95394-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95394-1" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] }, { "title": "Biomedical differences between human and nonhuman hominids: potential roles for uniquely human aspects of sialic acid biology.", "journal": "Annual review of pathology", "date": "2011", "authors": "Varki NM, Strobert E, Dick EJ Jr, Benirschke K, Varki A", "evidence": [ { "database": "Reactome", "id": "R-HSA-446210", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446210" } ], "reference": [ { "type": "PubMed", "id": "21073341", "url": "https://glygen.org/publication/PubMed/21073341" } ] }, { "title": "Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.", "journal": "American journal of human genetics", "date": "2011", "authors": "Senderek J, Muller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Mallebrera CJ, Nascimento A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hubner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A, Lochmuller H", "evidence": [ { "database": "Reactome", "id": "R-HSA-446210", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446210" } ], "reference": [ { "type": "PubMed", "id": "21310273", "url": "https://glygen.org/publication/PubMed/21310273" } ] }, { "title": "Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-alpha-acetylation features.", "journal": "Molecular & cellular proteomics : MCP", "date": "2012", "authors": "Bienvenut WV, Sumpton D, Martinez A, Lilla S, Espagne C, Meinnel T, Giglione C", "evidence": [ { "database": "UniProtKB", "id": "O95394", "url": "https://www.uniprot.org/uniprot/O95394" } ], "reference": [ { "type": "PubMed", "id": "22223895", "url": "https://glygen.org/publication/PubMed/22223895" } ] }, { "title": "Metabolism of vertebrate amino sugars with N-glycolyl groups: elucidating the intracellular fate of the non-human sialic acid N-glycolylneuraminic acid.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Bergfeld AK, Pearce OM, Diaz SL, Pham T, Varki A", "evidence": [ { "database": "Reactome", "id": "R-HSA-446210", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446210" } ], "reference": [ { "type": "PubMed", "id": "22692205", "url": "https://glygen.org/publication/PubMed/22692205" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O95394", "url": "https://www.uniprot.org/uniprot/O95394" }, { "database": "iPTMnet", "id": "O95394", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95394" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95394", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95394" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O95394", "url": "https://www.uniprot.org/uniprot/O95394" }, { "database": "iPTMnet", "id": "O95394", 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impair immunity and increase serum IgE levels.", "journal": "The Journal of allergy and clinical immunology", "date": "2014", "authors": "Sassi A, Lazaroski S, Wu G, Haslam SM, Fliegauf M, Mellouli F, Patiroglu T, Unal E, Ozdemir MA, Jouhadi Z, Khadir K, Ben-Khemis L, Ben-Ali M, Ben-Mustapha I, Borchani L, Pfeifer D, Jakob T, Khemiri M, Asplund AC, Gustafsson MO, Lundin KE, Falk-Sorqvist E, Moens LN, Gungor HE, Engelhardt KR, Dziadzio M, Stauss H, Fleckenstein B, Meier R, Prayitno K, Maul-Pavicic A, Schaffer S, Rakhmanov M, Henneke P, Kraus H, Eibel H, Kolsch U, Nadifi S, Nilsson M, Bejaoui M, Schaffer AA, Smith CI, Dell A, Barbouche MR, Grimbacher B", "evidence": [ { "database": "UniProtKB", "id": "O95394", "url": "https://www.uniprot.org/uniprot/O95394" } ], "reference": [ { "type": "PubMed", "id": "24698316", "url": "https://glygen.org/publication/PubMed/24698316" } ] }, { "title": "PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.", "journal": "American journal of human genetics", "date": "2014", "authors": "Stray-Pedersen A, Backe PH, Sorte HS, Morkrid L, Chokshi NY, Erichsen HC, Gambin T, Elgstoen KB, Bjoras M, Wlodarski MW, Kruger M, Jhangiani SN, Muzny DM, Patel A, Raymond KM, Sasa GS, Krance RA, Martinez CA, Abraham SM, Speckmann C, Ehl S, Hall P, Forbes LR, Merckoll E, Westvik J, Nishimura G, Rustad CF, Abrahamsen TG, Ronnestad A, Osnes LT, Egeland T, Rodningen OK, Beck CR, Boerwinkle EA, Gibbs RA, Lupski JR, Orange JS, Lausch E, Hanson IC", "evidence": [ { "database": "UniProtKB", "id": "O95394", "url": "https://www.uniprot.org/uniprot/O95394" } ], "reference": [ { "type": "PubMed", "id": "24931394", "url": "https://glygen.org/publication/PubMed/24931394" } ] }, { "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": "O95394", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95394" } ], "reference": [ { "type": "PubMed", "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "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": "O95394", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95394" } ], "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": "O95394", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95394" } ], "reference": [ { "type": "PubMed", "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054" } ] }, { "title": "Targeting PGM3 as a Novel Therapeutic Strategy in KRAS/LKB1 Co-Mutant Lung 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"database": "UniProtKB", "id": "O95394", "url": "https://www.uniprot.org/uniprot/O95394" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 7, "go_terms": [ { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "O95394", "url": "https://www.uniprot.org/uniprot/O95394" } ], "pmid": "" }, { "name": "UDP-N-acetylglucosamine biosynthetic process", "id": "GO:0006048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006048", "evidence": [ { "database": "UniProtKB", "id": "O95394", "url": "https://www.uniprot.org/uniprot/O95394" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "O95394", "url": "https://www.uniprot.org/uniprot/O95394" } ], "pmid": "" }, { "name": "protein O-linked glycosylation", "id": "GO:0006493", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O95394", "url": "https://www.uniprot.org/uniprot/O95394" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 331, "end_pos": 333, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "23804", "name": "", "equation": "N-acetyl-alpha-D-glucosamine 1-phosphate = N-acetyl-D-glucosamine 6-phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "B2RYN0-1", "O95394-1", "Q9CYR6-1", "P38628-1", "Q9VTZ4-1" ], "evidence": [ { "id": "23804", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/23804" } ] }, { "id": "R-HSA-446185", "name": "Isomerization of GlcNAc6P to GlcNAc1P", "equation": "", "summary": "Cytosolic PGM3 catalyzes the isomerization of N-acetyl-D-glucosamine 6-phosphate (GlcNAc6P) to form N-acetyl-D-glucosamine 1-phosphate 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