{ "uniprot_canonical_ac": "O94808-1", "uniprot_ac": "O94808", "uniprot_id": "GFPT2_HUMAN", "mass": { "chemical_mass": 76931.0, "monoisotopic_mass": 76931.0 }, "refseq": { "ac": "NP_005101", "name": "glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005101" }, "gene_names": [ { "name": "GFPT2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O94808", "id": "O94808" }, { "name": "GFAT; GFAT 2; GFAT2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005101", "id": "NP_005101" }, { "name": "GFPT2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005101", "id": "NP_005101" } ], "protein_names": [ { "name": "Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O94808" }, { "name": "2.6.1.16", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94808" }, { "name": "D-fructose-6-phosphate amidotransferase 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94808" }, { "name": "GFAT 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94808" }, { "name": "GFAT2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94808" }, { "name": "Glutamine:fructose-6-phosphate amidotransferase 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94808" }, { "name": "Hexosephosphate aminotransferase 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94808" }, { "name": "glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005101", "id": "NP_005101" }, { "name": "glutamine: fructose-6-phosphate aminotransferase 2; glucosamine--fructose-6-phosphate aminotransferase [isomerizing] 2; hexosephosphate aminotransferase 2; D-fructose-6-phosphate amidotransferase 2; glutamine:fructose-6-phosphate amidotransferase 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005101", "id": "NP_005101" } ], "function": [ { "annotation": "Association of nine single nucleotide polymorphisms in ADPRT1, AKR1B1), RAGE, GFPT2 and PAI-1 genes with chronic renal insufficiency among Asian Indians with type 2 diabetes GeneRIF: Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005101" }, { "database": "PubMed", "id": "20353610", "url": "https://glygen.org/publication/PubMed/20353610" } ] }, { "annotation": "Cardiomyocyte protein O-GlcNAcylation is regulated by GFAT1 not GFAT2.", "evidence": [ { "database": "RefSeq", "id": "NP_005101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005101" }, { "database": "PubMed", "id": "34735873", "url": "https://glygen.org/publication/PubMed/34735873" } ] }, { "annotation": "Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins.", "evidence": [ { "database": "UniProtKB", "id": "O94808", "url": "https://www.uniprot.org/uniprot/O94808#function" } ] }, { "annotation": "Enzymatic and structural properties of human glutamine:fructose-6-phosphate amidotransferase 2 (hGFAT2).", "evidence": [ { "database": "RefSeq", "id": "NP_005101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005101" }, { "database": "PubMed", "id": "33303629", "url": "https://glygen.org/publication/PubMed/33303629" } ] }, { "annotation": "GFPT2 mRNA levels in transformed lymphocytes significantly increased among African-Americans. Associated allele of 3' UTR SNP approximately 2-fold overexpressed. 3' UTR variant results in increased GFPT2 mRNA with resultant increased hexosamine flux. GeneRIF: Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_005101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005101" }, { "database": "PubMed", "id": "14764791", "url": "https://glygen.org/publication/PubMed/14764791" } ] }, { "annotation": "Glutamine-Fructose-6-Phosphate Transaminase 2 (GFPT2) Is Upregulated in Breast Epithelial-Mesenchymal Transition and Responds to Oxidative Stress.", "evidence": [ { "database": "RefSeq", "id": "NP_005101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005101" }, { "database": "PubMed", "id": "34923141", "url": "https://glygen.org/publication/PubMed/34923141" } ] }, { "annotation": "Increased GFAT activity appears to be associated with insulin resistance, postprandial hyperglycaemia and oxidative stress in T2DM and may point towards a potential pathway amenable for therapeutic intervention.", "evidence": [ { "database": "RefSeq", "id": "NP_005101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005101" }, { "database": "PubMed", "id": "17574229", "url": "https://glygen.org/publication/PubMed/17574229" } ] }, { "annotation": "Stomatinlike protein 2 induces metastasis by regulating the expression of a ratelimiting enzyme of the hexosamine biosynthetic pathway in pancreatic cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_005101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005101" }, { "database": "PubMed", "id": "33846782", "url": "https://glygen.org/publication/PubMed/33846782" } ] }, { "annotation": "VCAM-1 and GFPT-2: Predictive markers of osteoblast differentiation in human dental pulp stem cells.", "evidence": [ { "database": "RefSeq", "id": "NP_005101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005101" }, { "database": "PubMed", "id": "36195245", "url": "https://glygen.org/publication/PubMed/36195245" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O94808", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O94808" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 15, "end_pos": 15, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "180338564", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T15", "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 - 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"ENSG00000131459", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131459" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O94808", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94808" } ], "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 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"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": "" 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"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 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial 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cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O94808", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94808" } ], "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": 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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": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O94808", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94808" } ], "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/O94808" } ], "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": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", 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Classification" ] }, { "id": "IPR047084", "url": "https://www.ebi.ac.uk/interpro/entry/IPR047084", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9945", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9945", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "603865", "url": "http://www.omim.org/entry/603865", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O94808", "url": "https://www.nextprot.org/entry/NX_O94808", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "TSYYSGC", "url": "https://omabrowser.org/oma/group/TSYYSGC/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1705390at2759", "url": "http://www.orthodb.org/?query=1705390at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10937", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10937", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10937:SF10", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10937:SF10", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF01380", "url": "http://pfam.xfam.org/family/PF01380", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13522", "url": "http://pfam.xfam.org/family/PF13522", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13537", "url": "http://pfam.xfam.org/family/PF13537", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O94808", "url": "https://pharos.nih.gov/targets/O94808", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O94808", "url": "http://purl.obolibrary.org/obo/PR_O94808", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-446210", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446210", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_005101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005101", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "13237", "url": "https://www.rhea-db.org/rhea/13237", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "D6RAC1", "url": "https://www.uniprot.org/uniprot/D6RAC1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RAC1-1", "url": "https://www.uniprot.org/uniprot/D6RAC1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RJP4", "url": "https://www.uniprot.org/uniprot/E5RJP4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RJP4-1", "url": "https://www.uniprot.org/uniprot/E5RJP4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94808", "url": "https://www.uniprot.org/uniprot/O94808", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94808-1", "url": "https://www.uniprot.org/uniprot/O94808-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MCGIFAYMNYRVPRTRKEIFETLIKGLQRLEYRGYDSAGVAIDGNNHEVKERHIQLVKKRGKVKALDEELYKQDSMDLKVEFETHFGIAHTRWATHGVPSAVNSHPQRSDKGNEFVVIHNGIITNYKDLRKFLESKGYEFESETDTETIAKLIKYVFDNRETEDITFSTLVERVIQQLEGAFALVFKSVHYPGEAVATRRGSPLLIGVRSKYKLSTEQIPILYRTCTLENVKNICKTRMKRLDSSACLHAVGDKAVEFFFASDASAIIEHTNRVIFLEDDDIAAVADGKLSIHRVKRSASDDPSRAIQTLQMELQQIMKGNFSAFMQKEIFEQPESVFNTMRGRVNFETNTVLLGGLKDHLKEIRRCRRLIVIGCGTSYHAAVATRQVLEELTELPVMVELASDFLDRNTPVFRDDVCFFISQSGETADTLLALRYCKDRGALTVGVTNTVGSSISRETDCGVHINAGPEIGVASTKAYTSQFISLVMFGLMMSEDRISLQNRRQEIIRGLRSLPELIKEVLSLEEKIHDLALELYTQRSLLVMGRGYNYATCLEGALKIKEITYMHSEGILAGELKHGPLALIDKQMPVIMVIMKDPCFAKCQNALQQVTARQGRPIILCSKDDTESSKFAYKTIELPHTVDCLQGILSVIPLQLLSFHLAVLRGYDVDFPRNLAKSVTVE", "length": 682, "header": "sp|O94808-1|GFPT2_HUMAN Isoform 1 of Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2 OS=Homo sapiens OX=9606 GN=GFPT2 PE=1 SV=3 CANONICAL=O94808-1" }, "isoforms": [ { "isoform_ac": "D6RAC1-1", "url": 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"MNLLLNSISLLTFLSEFVVIHNGIITNYKDLRKFLESKGYEFESETDTETIAKLIKYVFDNRETEDITFSTLVERVIQQLEGAFALVFKSVHYPGEAVATRRGSPLLIGVRSKYKLSTEQIPILYRTCTLENVKNICKTRMKRLDSSACLHAVGDKAVEFFFASDASAIIEHTNRVIFLEDDDIAAVADGKLSIHRVKRSASDDPSRAIQTLQMEL", "length": 216, "header": "tr|E5RJP4-1|GFPT2_HUMAN Computationally mapped isoform of Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2 OS=Homo sapiens OX=9606 GN=GFPT2 PE=1 SV=1 CANONICAL=O94808-1" }, "locus": { "chromosome": "5", "start_pos": 180331599, "end_pos": 180318809, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000518906.1", "url": "https://www.ensembl.org/id/ENST00000518906.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000431125.1", "url": "https://www.ensembl.org/id/ENSP00000431125.1" } ] } }, { "isoform_ac": "O94808-1", "url": "", "sequence": { "sequence": "MCGIFAYMNYRVPRTRKEIFETLIKGLQRLEYRGYDSAGVAIDGNNHEVKERHIQLVKKRGKVKALDEELYKQDSMDLKVEFETHFGIAHTRWATHGVPSAVNSHPQRSDKGNEFVVIHNGIITNYKDLRKFLESKGYEFESETDTETIAKLIKYVFDNRETEDITFSTLVERVIQQLEGAFALVFKSVHYPGEAVATRRGSPLLIGVRSKYKLSTEQIPILYRTCTLENVKNICKTRMKRLDSSACLHAVGDKAVEFFFASDASAIIEHTNRVIFLEDDDIAAVADGKLSIHRVKRSASDDPSRAIQTLQMELQQIMKGNFSAFMQKEIFEQPESVFNTMRGRVNFETNTVLLGGLKDHLKEIRRCRRLIVIGCGTSYHAAVATRQVLEELTELPVMVELASDFLDRNTPVFRDDVCFFISQSGETADTLLALRYCKDRGALTVGVTNTVGSSISRETDCGVHINAGPEIGVASTKAYTSQFISLVMFGLMMSEDRISLQNRRQEIIRGLRSLPELIKEVLSLEEKIHDLALELYTQRSLLVMGRGYNYATCLEGALKIKEITYMHSEGILAGELKHGPLALIDKQMPVIMVIMKDPCFAKCQNALQQVTARQGRPIILCSKDDTESSKFAYKTIELPHTVDCLQGILSVIPLQLLSFHLAVLRGYDVDFPRNLAKSVTVE", "length": 682, "header": "sp|O94808-1|GFPT2_HUMAN Isoform 1 of Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2 OS=Homo sapiens OX=9606 GN=GFPT2 PE=1 SV=3 CANONICAL=O94808-1" }, "locus": { "chromosome": "5", "start_pos": 180353217, "end_pos": 180301567, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000253778.13", "url": "https://www.ensembl.org/id/ENST00000253778.13" }, { "database": "Ensembl Peptide", "id": "ENSP00000253778.8", "url": "https://www.ensembl.org/id/ENSP00000253778.8" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 202, "end_pos": 202, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "O94808", "url": "http://phospho.elm.eu.org/byAccession/O94808.html" }, { "database": "iPTMnet", "id": "O94808", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94808" }, { "database": "PubMed", "id": "15133036", "url": "https://glygen.org/publication/PubMed/15133036" } ], "site_lbl": "Ser202" }, { "start_pos": 244, "end_pos": 244, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94808", "url": 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"https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser245" } ], "glycation": [], "keywords": [ "enzyme" ], "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": "UniProtKB", "id": "O94808", "url": "https://www.uniprot.org/uniprot/O94808" }, { "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": "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", 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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": "Reactome", "id": "R-HSA-446210", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446210" } ], "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 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"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": "O94808", "url": "https://www.uniprot.org/uniprot/O94808" }, { "database": "iPTMnet", "id": "O94808", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94808" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Enzymatic and structural properties of human glutamine:fructose-6-phosphate amidotransferase 2 (hGFAT2).", "journal": "The Journal of biological chemistry", "date": "2021", "authors": "Oliveira IA, Allonso D, Fernandes TVA, Lucena DMS, Ventura GT, Dias WB, Mohana-Borges RS, Pascutti PG, Todeschini AR", "evidence": [ { "database": "RefSeq", 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cells.", "journal": "Bone", "date": "2023-01", "authors": "Hatori Ayano, Fujii Yasuyuki, Kawase-Koga Yoko, Ogasawara Toru, Chikira Jin, Minami Sakura, Yamakawa Daiki, Chikazu Daichi", "evidence": [ { "database": "RefSeq", "id": "NP_005101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005101" } ], "reference": [ { "type": "PubMed", "id": "36195245", "url": "https://glygen.org/publication/PubMed/36195245" } ] }, { "title": "Human renin-binding protein is the enzyme N-acetyl-D-glucosamine 2-epimerase.", "journal": "Journal of biochemistry", "date": "1999", "authors": "Takahashi S, Takahashi K, Kaneko T, Ogasawara H, Shindo S, Kobayashi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-446210", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446210" } ], "reference": [ { "type": "PubMed", "id": "9990133", "url": "https://glygen.org/publication/PubMed/9990133" } ] } ], "pathway": [ { "id": "hsa:9945", "name": "", "url": 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These enzymes probably play a role in limiting the availability of substrates for the N- and O- linked glycosylation of proteins (McKnight et al. 1992, Oki et al. 1999). GFPT1 and 2 are required for normal functioning of neuromuscular synaptic transmission. Defects in GFPT1 lead to altered muscle fibre morphology and impaired neuromuscular junction development (Senderek et al. 2011).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q06210-1", "O94808-1" ], "evidence": [ { "id": "R-HSA-449715", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-449715" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "A2P2R3", "gene_name": "", "activity": [ { "ec_number": "2.6.1.16", "activity": "D-fructose 6-phosphate + L-glutamine = D-glucosamine 6-phosphate + L-glutamate.", "evidence": [ { "id": "A2P2R3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A2P2R3" } ] }, { "ec_number": "2.6.1.16", "activity": "", "evidence": [ { "id": "A2P2R3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A2P2R3" } ] } ] }, { "uniprot_ac": "O94808", "gene_name": "GFPT2", "activity": [ { "ec_number": "2.6.1.16", 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