{ "uniprot_canonical_ac": "P12268-1", "uniprot_ac": "P12268", "uniprot_id": "IMDH2_HUMAN", "mass": { "chemical_mass": 55805.0, "monoisotopic_mass": 55805.0 }, "refseq": { "ac": "NP_000875", "name": "inosine-5'-monophosphate dehydrogenase 2 isoform 2", "summary": "This gene encodes the rate-limiting enzyme in the de novo guanine nucleotide biosynthesis. It is thus involved in maintaining cellular guanine deoxy- and ribonucleotide pools needed for DNA and RNA synthesis. The encoded protein catalyzes the NAD-dependent oxidation of inosine-5'-monophosphate into xanthine-5'-monophosphate, which is then converted into guanosine-5'-monophosphate. This gene is up-regulated in some neoplasms, suggesting it may play a role in malignant transformation. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000875" }, "gene_names": [ { "name": "IMPDH2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P12268", "id": "P12268" }, { "name": "IMPD2; IMPDH-II", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000875", "id": "NP_000875" }, { "name": "IMPD2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P12268", "id": "P12268" }, { "name": "IMPDH2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000875", "id": "NP_000875" }, { "name": "IMPDH", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P12268", "id": "P12268" } ], "protein_names": [ { "name": "Inosine-5'-monophosphate dehydrogenase 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P12268" }, { "name": "1.1.1.205", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12268" }, { "name": "IMP (inosine monophosphate) dehydrogenase 2; IMP oxireductase 2; epididymis secretory sperm binding protein; IMP dehydrogenase II; inosine-5'-monophosphate dehydrogenase type II; inosine 5' phosphate dehydrogenase 2; inosine-5'-monophosphate dehydrogenase 2; IMP (inosine 5'-monophosphate) dehydrogenase 2; inosine monophosphate dehydrogenase type II; IMPD 2; IMPDH 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000875", "id": "NP_000875" }, { "name": "IMP dehydrogenase 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12268" }, { "name": "IMP dehydrogenase II", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12268" }, { "name": "IMPD 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12268" }, { "name": "IMPDH 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12268" }, { "name": "IMPDH-II", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12268" }, { "name": "Inosine-5'-monophosphate dehydrogenase type II", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12268" }, { "name": "inosine-5'-monophosphate dehydrogenase 2 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000875", "id": "NP_000875" } ], "function": [ { "annotation": "C-Myc-IMPDH1/2 axis promotes tumourigenesis by regulating GTP metabolic reprogramming.", "evidence": [ { "database": "RefSeq", "id": "NP_000875", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000875" }, { "database": "PubMed", "id": "36629054", "url": "https://glygen.org/publication/PubMed/36629054" } ] }, { "annotation": "Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors.", "evidence": [ { "database": "UniProtKB", "id": "E7ETK5", "url": "https://www.uniprot.org/uniprot/E7ETK5#function" }, { "database": "UniProtKB", "id": "MF_03156", "url": "https://www.uniprot.org/uniprot/MF_03156#function" }, { "database": "UniProtKB", "id": "A0A7I2V2T3", "url": "https://www.uniprot.org/uniprot/A0A7I2V2T3#function" }, { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268#function" }, { "database": "PubMed", "id": "7903306", "url": "https://glygen.org/publication/PubMed/7903306" }, { "database": "PubMed", "id": "7763314", "url": "https://glygen.org/publication/PubMed/7763314" }, { "database": "PubMed", "id": "14766016", "url": "https://glygen.org/publication/PubMed/14766016" }, { "database": "UniProtKB", "id": "H0Y4R1", "url": "https://www.uniprot.org/uniprot/H0Y4R1#function" }, { "database": "UniProtKB", "id": "A0A7I2YQK5", "url": "https://www.uniprot.org/uniprot/A0A7I2YQK5#function" } ] }, { "annotation": "Genetic analysis of IMPDH2 gene in Taiwanese patients with isolated or combined dystonia.", "evidence": [ { "database": "RefSeq", "id": "NP_000875", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000875" }, { "database": "PubMed", "id": "36657279", "url": "https://glygen.org/publication/PubMed/36657279" } ] }, { "annotation": "Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation.", "evidence": [ { "database": "RefSeq", "id": "NP_000875", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000875" }, { "database": "PubMed", "id": "37414152", "url": "https://glygen.org/publication/PubMed/37414152" } ] }, { "annotation": "Rare variants in IMPDH2 cause autosomal dominant dystonia in Chinese population.", "evidence": [ { "database": "RefSeq", "id": "NP_000875", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000875" }, { "database": "PubMed", "id": "36648520", "url": "https://glygen.org/publication/PubMed/36648520" } ] }, { "annotation": "Single-cell RNA sequencing in double-hit lymphoma: IMPDH2 induces the progression of lymphoma by activating the PI3K/AKT/mTOR signaling pathway. Erratum:[Int Immunopharmacol. 2024 Jan 5;126:111292. PMID: 38042635]", "evidence": [ { "database": "RefSeq", "id": "NP_000875", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000875" }, { "database": "PubMed", "id": "37907047", "url": "https://glygen.org/publication/PubMed/37907047" } ] }, { "annotation": "This gene encodes the rate-limiting enzyme in the de novo guanine nucleotide biosynthesis. It is thus involved in maintaining cellular guanine deoxy- and ribonucleotide pools needed for DNA and RNA synthesis. The encoded protein catalyzes the NAD-dependent oxidation of inosine-5'-monophosphate into xanthine-5'-monophosphate, which is then converted into guanosine-5'-monophosphate. This gene is up-regulated in some neoplasms, suggesting it may play a role in malignant transformation. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000875", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000875" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1402430681", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1402430681" }, { "id": "rs1402430681", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1402430681#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 281, "end_pos": 281, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSI->NST).", "chr_id": "3", "chr_pos": "49026587", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I281", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs368466461", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368466461" }, { "id": "rs368466461", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368466461" }, { "id": "rs368466461", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368466461#frequency_tab" }, { "id": "rs368466461", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368466461" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 314, "end_pos": 314, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLI->NLT).", "chr_id": "3", "chr_pos": "49026389", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I314", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P12268", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12268" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 63, "end_pos": 63, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (T->A).", "chr_id": "3", "chr_pos": "49028493", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T63", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. 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"Protein Classification" ] }, { "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000875", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000875", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "11708", "url": "https://www.rhea-db.org/rhea/11708", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A7I2V2T3", "url": "https://www.uniprot.org/uniprot/A0A7I2V2T3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V2T3-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V2T3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V337", "url": "https://www.uniprot.org/uniprot/A0A7I2V337", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V337-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V337-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V5N6", "url": "https://www.uniprot.org/uniprot/A0A7I2V5N6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V5N6-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V5N6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2YQK5", "url": "https://www.uniprot.org/uniprot/A0A7I2YQK5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2YQK5-1", "url": "https://www.uniprot.org/uniprot/A0A7I2YQK5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7ETK5", "url": "https://www.uniprot.org/uniprot/E7ETK5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7ETK5-1", "url": "https://www.uniprot.org/uniprot/E7ETK5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y4R1", "url": "https://www.uniprot.org/uniprot/H0Y4R1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y4R1-1", "url": "https://www.uniprot.org/uniprot/H0Y4R1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12268-1", "url": "https://www.uniprot.org/uniprot/P12268-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MADYLISGGTSYVPDDGLTAQQLFNCGDGLTYNDFLILPGYIDFTADQVDLTSALTKKITLKTPLVSSPMDTVTEAGMAIAMALTGGIGFIHHNCTPEFQANEVRKVKKYEQGFITDPVVLSPKDRVRDVFEAKARHGFCGIPITDTGRMGSRLVGIISSRDIDFLKEEEHDCFLEEIMTKREDLVVAPAGITLKEANEILQRSKKGKLPIVNEDDELVAIIARTDLKKNRDYPLASKDAKKQLLCGAAIGTHEDDKYRLDLLAQAGVDVVVLDSSQGNSIFQINMIKYIKDKYPNLQVIGGNVVTAAQAKNLIDAGVDALRVGMGSGSICITQEVLACGRPQATAVYKVSEYARRFGVPVIADGGIQNVGHIAKALALGASTVMMGSLLAATTEAPGEYFFSDGIRLKKYRGMGSLDAMDKHLSSQNRYFSEADKIKVAQGVSGAVQDKGSIHKFVPYLIAGIQHSCQDIGAKSLTQVRAMMYSGELKFEKRTSSAQVEGGVHSLHSYEKRLF", "length": 514, "header": "sp|P12268-1|IMDH2_HUMAN Isoform 1 of Inosine-5'-monophosphate dehydrogenase 2 OS=Homo sapiens OX=9606 GN=IMPDH2 PE=1 SV=2 CANONICAL=P12268-1" }, "isoforms": [ { "isoform_ac": "A0A7I2V2T3-1", "url": "", "sequence": { "sequence": "MADYLISGGTSYVPDDGLTAQQLFNCGDGLTYNDFLILPGYIDFTADQVVSMIRNWVLNIKDLTSALTKKITLKTPLVSSPMDTVTEAGMAIAMALTGGIGFIHHNCTPEFQANEVRKVKKYEQGFITDPVVLSPKDRVRDVFEAKARHGFCGIPITDTGRMGSRLVGIISSRDIDFLKEEEHDCFLEEIMTKREDLVVAPAGITLKEANEILQRSKKGKLPIVNEDDELVAIIARTDLKKNRDYPLASKDAKKQLLCGAAIGTHEDDKYRLDLLAQAGVDVVVLGNSIFQINMIKYIKDKYPNLQVIGGNVVTAAQAKNLIDAGVDALRVGMGSGSICITQEVLACGRPQATAVYKVSEYARRFGVPVIADGGIQNVGHIAKALALGASTVMMGSLLAATTEAPGEYFFSDGIRLKKYRGMGSLDAMDKHLSSQNRYFSEADKIKVAQGVSGAVQDKGSIHKFVPYLIAGIQHSCQDIGAKSLTQVRAMMYSGELKFEKRTSSAQVEGGVHSLHSYEKRLF", "length": 522, "header": "tr|A0A7I2V2T3-1|IMDH2_HUMAN Computationally mapped isoform of Inosine-5'-monophosphate dehydrogenase 2 OS=Homo sapiens OX=9606 GN=IMPDH2 PE=1 SV=1 CANONICAL=P12268-1" }, "locus": { "chromosome": "3", "start_pos": 49029350, "end_pos": 49024386, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677010.1", "url": "https://www.ensembl.org/id/ENST00000677010.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503089.1", "url": "https://www.ensembl.org/id/ENSP00000503089.1" } ] } }, { "isoform_ac": "A0A7I2V337-1", "url": "", "sequence": { "sequence": "MADYLISGGTSYVPDDGLTAQQLFNCGDGLTYKPGGPDFCSDQENHS", "length": 47, "header": "tr|A0A7I2V337-1|A0A7I2V337_HUMAN Computationally mapped isoform of Inosine monophosphate dehydrogenase 2 OS=Homo sapiens OX=9606 GN=IMPDH2 PE=1 SV=1 CANONICAL=P12268-1" }, "locus": { "chromosome": "3", "start_pos": 49029350, "end_pos": 49028498, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000679117.1", "url": "https://www.ensembl.org/id/ENST00000679117.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503240.1", "url": "https://www.ensembl.org/id/ENSP00000503240.1" } ] } }, { "isoform_ac": "A0A7I2V5N6-1", "url": "", "sequence": { "sequence": "MADYLISGGTSYVPDDGLTAQQLFNCGDGLTYNDFLILPGYIDFTADQVDLTSALTKKITLKTPLVSSPMDTVTEAGMAIAMALTGGIGFIHHNCTPEFQANEVRKVKVRRATIISKRSWELH", "length": 123, "header": "tr|A0A7I2V5N6-1|IMDH2_HUMAN Computationally mapped isoform of Inosine-5'-monophosphate dehydrogenase 2 OS=Homo sapiens OX=9606 GN=IMPDH2 PE=1 SV=1 CANONICAL=P12268-1" }, "locus": { "chromosome": "3", "start_pos": 49029350, "end_pos": 49028203, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677480.1", "url": "https://www.ensembl.org/id/ENST00000677480.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504378.1", "url": "https://www.ensembl.org/id/ENSP00000504378.1" } ] } }, { "isoform_ac": "A0A7I2YQK5-1", "url": "", "sequence": { "sequence": "MADYLISGGTSYVPDDGLTAQQLFNCGDGLTYNDFLILPGYIDFTADQVDLTSALTKKITLKTPLVSSPMDTVTEAGMAIAMAKYEQGFITDPVVLSPKDRVRDVFEAKARHGFCGIPITDTGRMGSRLVGIISSRDIDFLKEEEHDCFLEEIMTKREDLVVAPAGITLKEANEILQRSKKGKLPIVNEDDELVAIIARTDLKKNRDYPLASKDAKKQLLCGAAIGTHEDDKYRLDLLAQAGVDVVVLDSSQGNSIFQINMIKYIKDKYPNLQVIGGNVVTAAQAKNLIDAGVDALRVGMGSGSICITQEVAPKIPPDIKSHSPKCPSTVTGCYMLACGRPQATAVYKVSEYARRFGVPVIADGGIQNVGHIAKALALGASTVMMGSLLAATTEAPGEYFFSDGIRLKKYRGMGSLDAMDKHLSSQNRYFSEADKIKVAQGVSGAVQDKGSIHKFVPYLIAGIQHSCQDIGAKSLTQVRAMMYSGELKFEKRTSSAQVEGGVHSLHSYEKRLF", "length": 513, "header": "tr|A0A7I2YQK5-1|A0A7I2YQK5_HUMAN Computationally mapped isoform of Inosine-5'-monophosphate dehydrogenase OS=Homo sapiens OX=9606 GN=IMPDH2 PE=1 SV=1 CANONICAL=P12268-1" }, "locus": { "chromosome": "3", "start_pos": 49029350, "end_pos": 49024386, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678724.1", "url": "https://www.ensembl.org/id/ENST00000678724.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503874.1", "url": "https://www.ensembl.org/id/ENSP00000503874.1" } ] } }, { "isoform_ac": "E7ETK5-1", "url": "", "sequence": { "sequence": "MADYLISGGTSYVPDDGLTAQQLFNCGDGLTYNDFLILPGYIDFTADQVDLTSALTKKITLKTPLVSSPMDTVTEAGMAIAMAKYEQGFITDPVVLSPKDRVRDVFEAKARHGFCGIPITDTGRMGSRLVGIISSRDIDFLKEEEHDCFLEEIMTKREDLVVAPAGITLKEANEILQRSKKGKLPIVNEDDELVAIIARTDLKKNRDYPLASKDAKKQLLCGAAIGTHEDDKYRLDLLAQAGVDVVVLDSSQGNSIFQINMIKYIKDKYPNLQVIGGNVVTAAQAKNLIDAGVDALRVGMGSGSICITQEVLACGRPQATAVYKVSEYARRFGVPVIADGGIQNVGHIAKALALGASTVMMGSLLAATTEAPGEYFFSDGIRLKKYRGMGSLDAMDKHLSSQNRYFSEADKIKVAQGVSGAVQDKGSIHKFVPYLIAGIQHSCQDIGAKSLTQVRAMMYSGELKFEKRTSSAQVEGGVHSLHSYEKRLF", "length": 489, "header": "tr|E7ETK5-1|IMDH2_HUMAN Computationally mapped isoform of Inosine-5'-monophosphate dehydrogenase 2 OS=Homo sapiens OX=9606 GN=IMPDH2 PE=1 SV=2 CANONICAL=P12268-1" }, "locus": { "chromosome": "3", "start_pos": 49029350, "end_pos": 49024386, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000442157.2", "url": "https://www.ensembl.org/id/ENST00000442157.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000403502.2", "url": "https://www.ensembl.org/id/ENSP00000403502.2" } ] } }, { "isoform_ac": "H0Y4R1-1", "url": "", "sequence": { "sequence": "MADYLISGGTSYVPDDGLTAQQLFNCGDGLTYNDFLILPGYIDFTADQVDLTSALTKKITLKTPLVSSPMDTVTEAGMAIAMALTGGIGFIHHNCTPEFQANEVRKVKKYEQGFITDPVVLSPKDRVRDVFEAKARHGFCGIPITDTGRMGSRLVGIISSRDIDFLKEEEHDCFLEEIMTKREDLVVAPAGITLKEANEILQRSKKGKLPIVNEDDELVAIIARTDLKKNRDYPLASKDAKKQLLCGAAIGTHEDDKYRLDLLAQAGVDVVVLDSSQGNSIFQINMIKYIKDKYPNLQVIGGNVVTAAQAKNLIDAGVDALRVGMGSGSICITQEVAPKIPPDIKSHSPKCPSTVTGCYMLACGRPQATAVYKVSEYARRFGVPVIADGGIQNVGHIAKALALGASTVMMGSLLAATTEAPGEYFFSDGIRLKKYRGMGSLDAMDKHLSSQNRYFSEADKIKVAQGVSGAVQDKGSIHKFVPYLIAGIQHSCQDIGAKSLTQVRAMMYSGELKFEKRTSSAQVEGGVHSLHSYEKRLF", "length": 538, "header": "tr|H0Y4R1-1|H0Y4R1_HUMAN Computationally mapped isoform of Inosine-5'-monophosphate dehydrogenase OS=Homo sapiens OX=9606 GN=IMPDH2 PE=1 SV=2 CANONICAL=P12268-1" }, "locus": { "chromosome": "3", "start_pos": 49029350, "end_pos": 49024386, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000429182.6", "url": "https://www.ensembl.org/id/ENST00000429182.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000393525.2", "url": "https://www.ensembl.org/id/ENSP00000393525.2" } ] } }, { "isoform_ac": "P12268-1", "url": "", "sequence": { "sequence": "MADYLISGGTSYVPDDGLTAQQLFNCGDGLTYNDFLILPGYIDFTADQVDLTSALTKKITLKTPLVSSPMDTVTEAGMAIAMALTGGIGFIHHNCTPEFQANEVRKVKKYEQGFITDPVVLSPKDRVRDVFEAKARHGFCGIPITDTGRMGSRLVGIISSRDIDFLKEEEHDCFLEEIMTKREDLVVAPAGITLKEANEILQRSKKGKLPIVNEDDELVAIIARTDLKKNRDYPLASKDAKKQLLCGAAIGTHEDDKYRLDLLAQAGVDVVVLDSSQGNSIFQINMIKYIKDKYPNLQVIGGNVVTAAQAKNLIDAGVDALRVGMGSGSICITQEVLACGRPQATAVYKVSEYARRFGVPVIADGGIQNVGHIAKALALGASTVMMGSLLAATTEAPGEYFFSDGIRLKKYRGMGSLDAMDKHLSSQNRYFSEADKIKVAQGVSGAVQDKGSIHKFVPYLIAGIQHSCQDIGAKSLTQVRAMMYSGELKFEKRTSSAQVEGGVHSLHSYEKRLF", "length": 514, "header": "sp|P12268-1|IMDH2_HUMAN Isoform 1 of Inosine-5'-monophosphate dehydrogenase 2 OS=Homo sapiens OX=9606 GN=IMPDH2 PE=1 SV=2 CANONICAL=P12268-1" }, "locus": { "chromosome": "3", "start_pos": 49029350, "end_pos": 49024386, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000326739.9", "url": "https://www.ensembl.org/id/ENST00000326739.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000321584.4", "url": "https://www.ensembl.org/id/ENSP00000321584.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 63, "start_aa": "Thr", "end_pos": 63, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr63", "evidence": [ { "id": "P12268", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12268" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "16408927", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16408927" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "32870666", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32870666" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "20305658", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20305658" }, { "id": "P12268", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P12268" } ] } ], "phosphorylation": [ { "start_pos": 122, "end_pos": 122, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" }, { "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": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P12268", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12268" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "phospho.ELM", "id": "P12268", "url": "http://phospho.elm.eu.org/byAccession/P12268.html" } ], "site_lbl": "Ser122" }, { "start_pos": 159, "end_pos": 159, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P12268", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12268" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser159" }, { "start_pos": 160, "end_pos": 160, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P12268", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12268" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser160" }, { "start_pos": 345, "end_pos": 345, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P12268", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12268" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr345" }, { "start_pos": 400, "end_pos": 400, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" }, { "database": "iPTMnet", "id": "P12268", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12268" } ], "site_lbl": "Tyr400" }, { "start_pos": 416, "end_pos": 416, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "24275569", "url": 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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": "P12268", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12268" } ], "reference": [ { "type": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" } ] }, { "title": "A novel variant L263F in human inosine 5'-monophosphate dehydrogenase 2 is associated with diminished enzyme activity.", "journal": "Pharmacogenetics and genomics", "date": "2007", "authors": "Wang J, Zeevi A, Webber S, Girnita DM, Addonizio L, Selby R, Hutchinson IV, Burckart GJ", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" } ], "reference": [ { "type": "PubMed", "id": "17496727", "url": "https://glygen.org/publication/PubMed/17496727" } ] }, { "title": "High occupancy of sigma-1 receptors in the human brain after single oral administration of fluvoxamine: a positron emission tomography study using [11C]SA4503.", "journal": "Biological psychiatry", "date": "2007", "authors": "Ishikawa M, Ishiwata K, Ishii K, Kimura Y, Sakata M, Naganawa M, Oda K, Miyatake R, Fujisaki M, Shimizu E, Shirayama Y, Iyo M, Hashimoto K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191" } ], "reference": [ { "type": "PubMed", "id": "17662961", "url": "https://glygen.org/publication/PubMed/17662961" } ] }, { "title": "Up-regulation of MRP4 and down-regulation of influx transporters in human leukemic cells with acquired resistance to 6-mercaptopurine.", "journal": "Leukemia research", "date": "2008", "authors": "Peng XX, Shi Z, Damaraju VL, Huang XC, Kruh GD, Wu HC, Zhou Y, Tiwari A, Fu L, Cass CE, Chen ZS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": 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"https://www.reactome.org/PathwayBrowser/#R-HSA-73817" } ], "reference": [ { "type": "PubMed", "id": "18609073", "url": "https://glygen.org/publication/PubMed/18609073" } ] }, { "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": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" }, { "database": "iPTMnet", "id": "P12268", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12268" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Evaluation of the low-specificity protease elastase for large-scale phosphoproteome analysis.", "journal": "Analytical chemistry", "date": "2008", "authors": "Wang B, Malik R, Nigg EA, Korner R", 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"http://research.bioinformatics.udel.edu/iptmnet/entry/P12268" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "title": "Synthesis and immunosuppressive activity of some side-chain variants of mycophenolic acid.", "journal": "Journal of medicinal chemistry", "date": "1990", "authors": "Nelson PH, Eugui E, Wang CC, Allison AC", "evidence": [ { "database": "Reactome", "id": "R-HSA-73817", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73817" } ], "reference": [ { "type": "PubMed", "id": "1967654", "url": "https://glygen.org/publication/PubMed/1967654" } ] }, { "title": "Quantitative analysis of the human spindle phosphoproteome at distinct mitotic stages.", "journal": "Journal of proteome research", "date": "2009", "authors": "Malik R, Lenobel R, Santamaria A, Ries A, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "P12268", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12268" } ], "reference": [ { "type": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ] }, { "title": "Two distinct cDNAs for human IMP dehydrogenase.", "journal": "J. Biol. Chem.", "date": "1990", "authors": "Natsumeda Y, Ohno S, Kawasaki H, Konno Y, Weber G, Suzuki K", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" } ], "reference": [ { "type": "PubMed", "id": "1969416", "url": "https://glygen.org/publication/PubMed/1969416" } ] }, { "title": "Reassessment of the interactions of guanylate kinase and 6-thioguanosine 5'-phosphate.", "journal": "Biochemical pharmacology", "date": "1977", "authors": "Miller RL, Adamczyk DL, Spector T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "197968", "url": "https://glygen.org/publication/PubMed/197968" } ] }, { "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": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" }, { "database": "iPTMnet", "id": "P12268", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12268" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Determination of 6-thioguanosine diphosphate and triphosphate and nucleoside diphosphate kinase activity in erythrocytes: novel targets for thiopurine therapy?", "journal": "Therapeutic drug monitoring", "date": "2010", "authors": "Karner S, Shi S, Fischer C, Schaeffeler E, Neurath MF, Herrlinger KR, Hofmann U, Schwab M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "20216118", "url": "https://glygen.org/publication/PubMed/20216118" } ] }, { "title": "Identification of a primary target of thalidomide teratogenicity.", "journal": "Science (New York, N.Y.)", "date": "2010", "authors": "Ito T, Ando H, Suzuki T, Ogura T, Hotta K, Imamura Y, Yamaguchi Y, Handa H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191" } ], "reference": [ { "type": "PubMed", "id": "20223979", "url": "https://glygen.org/publication/PubMed/20223979" } ] }, { "title": "Glycopeptide-specific monoclonal antibodies suggest new roles for O-GlcNAc.", "journal": "Nature chemical biology", "date": "2010", "authors": "Teo CF, Ingale S, Wolfert MA, Elsayed GA, Not LG, Chatham JC, Wells L, Boons GJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "P12268", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12268" } ], "reference": [ { "type": "PubMed", "id": "20305658", "url": "https://glygen.org/publication/PubMed/20305658" } ] }, { "title": "Guanylate kinases from human erythrocytes, hog brain, and rat liver.", "journal": "Methods in enzymology", "date": "1978", "authors": "Agarwal KC, Miech RP, Parks RE Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "211390", "url": "https://glygen.org/publication/PubMed/211390" } ] }, { "title": "Mechanism of action of ribavirin in a novel hepatitis C virus replication cell system.", "journal": "Virus research", "date": "2011", "authors": "Mori K, Ikeda M, Ariumi Y, Dansako H, Wakita T, Kato N", "evidence": [ { "database": "Reactome", "id": "R-HSA-73817", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73817" } ], "reference": [ { "type": "PubMed", "id": "21320556", "url": "https://glygen.org/publication/PubMed/21320556" } ] }, { "title": "De novo purine nucleotide biosynthesis: cloning of human and avian cDNAs encoding the trifunctional glycinamide ribonucleotide synthetase-aminoimidazole ribonucleotide synthetase-glycinamide ribonucleotide transformylase by functional complementation in E. coli.", "journal": "Nucleic acids research", "date": "1990", "authors": "Aimi J, Qiu H, Williams J, Zalkin H, Dixon JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-73817", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73817" } ], "reference": [ { "type": "PubMed", "id": "2147474", "url": "https://glygen.org/publication/PubMed/2147474" } ] }, { "title": "The pattern of gene expression and gene dose profiles of 6-Mercaptopurine- and 6-Thioguanine-resistant human leukemia cells.", "journal": "Biochemical and biophysical research communications", "date": "2011", "authors": "Karim H, Hashemi J, Larsson C, Moshfegh A, Fotoohi AK, Albertioni F", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "21723252", "url": "https://glygen.org/publication/PubMed/21723252" } ] }, { "title": "Cloning of three human multifunctional de novo purine biosynthetic genes by functional complementation of yeast mutations.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1990", "authors": "Schild D, Brake AJ, Kiefer MC, Young D, Barr PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-73817", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73817" } ], "reference": [ { "type": "PubMed", "id": "2183217", "url": "https://glygen.org/publication/PubMed/2183217" } ] }, { "title": "Mechanism of action of ribavirin in the treatment of chronic hepatitis C.", "journal": "Gastroenterology & hepatology", "date": "2007", "authors": "Te HS, Randall G, Jensen DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-73817", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73817" } ], "reference": [ { "type": "PubMed", "id": "21960835", "url": "https://glygen.org/publication/PubMed/21960835" } ] }, { "title": "An extension of hypotheses regarding rapid-acting, treatment-refractory, and conventional antidepressant activity of dextromethorphan and dextrorphan.", "journal": "Medical hypotheses", "date": "2012", "authors": "Lauterbach EC", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191" } ], "reference": [ { "type": "PubMed", "id": "22401777", "url": "https://glygen.org/publication/PubMed/22401777" } ] }, { "title": "Structure-based redesign of GST A2-2 for enhanced catalytic efficiency with azathioprine.", "journal": "Chemistry & biology", "date": "2012", "authors": "Zhang W, Moden O, Tars K, Mannervik B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "22444596", "url": "https://glygen.org/publication/PubMed/22444596" } ] }, { "title": "Cereblon is a direct protein target for immunomodulatory and antiproliferative activities of lenalidomide and pomalidomide.", "journal": "Leukemia", "date": "2012", "authors": "Lopez-Girona A, Mendy D, Ito T, Miller K, Gandhi AK, Kang J, Karasawa S, Carmel G, Jackson P, Abbasian M, Mahmoudi A, Cathers B, Rychak E, Gaidarova S, Chen R, Schafer PH, Handa H, Daniel TO, Evans JF, Chopra R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191" } ], "reference": [ { "type": "PubMed", "id": "22552008", "url": "https://glygen.org/publication/PubMed/22552008" } ] }, { "title": "An overview of tubulin inhibitors that interact with the colchicine binding site.", "journal": "Pharmaceutical research", "date": "2012", "authors": "Lu Y, Chen J, Xiao M, Li W, Miller DD", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191" } ], "reference": [ { "type": "PubMed", "id": "22814904", "url": "https://glygen.org/publication/PubMed/22814904" } ] }, { "title": "New insight into the molecular switch mechanism of human Rho family proteins: shifting a paradigm.", "journal": "Biological chemistry", "date": "2013", "authors": "Jaiswal M, Fansa EK, Dvorsky R, Ahmadian MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "23096567", "url": "https://glygen.org/publication/PubMed/23096567" } ] }, { "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": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" }, { "database": "iPTMnet", "id": "P12268", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12268" } ], "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": "P12268", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12268" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "From alpha4beta2 Nicotinic Ligands to the Discovery of sigma1 Receptor Ligands: Pharmacophore Analysis and Rational Design.", "journal": "ACS medicinal chemistry letters", "date": "2012", "authors": "Yu LF, Zhang HK, Gunosewoyo H, Kozikowski AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191" } ], "reference": [ { "type": "PubMed", "id": "23641311", "url": "https://glygen.org/publication/PubMed/23641311" } ] }, { "title": "Proteome profiling of human neutrophil granule subsets, secretory vesicles, and cell membrane: correlation with transcriptome profiling of neutrophil precursors.", "journal": "Journal of leukocyte biology", "date": "2013", "authors": "Rorvig S, Ostergaard O, Heegaard NH, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "23650620", "url": "https://glygen.org/publication/PubMed/23650620" } ] }, { "title": "Substrate specificity and oligomerization of human GMP synthetase.", "journal": "Journal of molecular biology", "date": "2013", "authors": "Welin M, Lehtio L, Johansson A, Flodin S, Nyman T, Tresaugues L, Hammarstrom M, Graslund S, Nordlund P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "23816837", "url": "https://glygen.org/publication/PubMed/23816837" } ] }, { "title": "4-Acyl pyrroles: mimicking acetylated lysines in histone code reading.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2013", "authors": "Lucas X, Wohlwend D, Hugle M, Schmidtkunz K, Gerhardt S, Schule R, Jung M, Einsle O, Gunther S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191" } ], "reference": [ { "type": "PubMed", "id": "24272870", "url": "https://glygen.org/publication/PubMed/24272870" } ] }, { "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": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" }, { "database": "iPTMnet", "id": "P12268", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12268" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Glutamine deprivation initiates reversible assembly of mammalian rods and rings.", "journal": "Cell. Mol. Life Sci.", "date": "2014", "authors": "Calise S John, Carcamo Wendy C, Krueger Claire, Yin Joyce D, Purich Daniel L, Chan Edward K L", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" } ], "reference": [ { "type": "PubMed", "id": "24477477", "url": "https://glygen.org/publication/PubMed/24477477" } ] }, { "title": "Dual kinase-bromodomain inhibitors for rationally designed polypharmacology.", "journal": "Nature chemical biology", "date": "2014", "authors": "Ciceri P, Muller S, O'Mahony A, Fedorov O, Filippakopoulos P, Hunt JP, Lasater EA, Pallares G, Picaud S, Wells C, Martin S, Wodicka LM, Shah NP, Treiber DK, Knapp S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191" } ], "reference": [ { "type": "PubMed", "id": "24584101", "url": "https://glygen.org/publication/PubMed/24584101" } ] }, { "title": "In vitro oxidative metabolism of 6-mercaptopurine in human liver: insights into the role of the molybdoflavoenzymes aldehyde oxidase, xanthine oxidase, and xanthine dehydrogenase.", "journal": "Drug metabolism and disposition: the biological fate of chemicals", "date": "2014", "authors": "Choughule KV, Barnaba C, Joswig-Jones CA, Jones JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "24824603", "url": "https://glygen.org/publication/PubMed/24824603" } ] }, { "title": "Glutathione transferases in the bioactivation of azathioprine.", "journal": "Advances in cancer research", "date": "2014", "authors": "Moden O, Mannervik B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "24974183", "url": "https://glygen.org/publication/PubMed/24974183" } ] }, { "title": "Structure guided design of potent and selective ponatinib-based hybrid inhibitors for RIPK1.", "journal": "Cell reports", "date": "2015", "authors": "Najjar M, Suebsuwong C, Ray SS, Thapa RJ, Maki JL, Nogusa S, Shah S, Saleh D, Gough PJ, Bertin J, Yuan J, Balachandran S, Cuny GD, Degterev A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191" } ], "reference": [ { "type": "PubMed", "id": "25801024", "url": "https://glygen.org/publication/PubMed/25801024" } ] }, { "title": "CC-122, a pleiotropic pathway modifier, mimics an interferon response and has antitumor activity in DLBCL.", "journal": "Blood", "date": "2015", "authors": "Hagner PR, Man HW, Fontanillo C, Wang M, Couto S, Breider M, Bjorklund C, Havens CG, Lu G, Rychak E, Raymon H, Narla RK, Barnes L, Khambatta G, Chiu H, Kosek J, Kang J, Amantangelo MD, Waldman M, Lopez-Girona A, Cai T, Pourdehnad M, Trotter M, Daniel TO, Schafer PH, Klippel A, Thakurta A, Chopra R, Gandhi AK", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191" } ], "reference": [ { "type": "PubMed", "id": "26002965", "url": "https://glygen.org/publication/PubMed/26002965" } ] }, { "title": "Crystal structure, biochemical and cellular activities demonstrate separate functions of MTH1 and MTH2.", "journal": "Nature communications", "date": "2015", "authors": "Carter M, Jemth AS, Hagenkort A, Page BD, Gustafsson R, Griese JJ, Gad H, Valerie NC, Desroses M, Bostrom J, Warpman Berglund U, Helleday T, Stenmark P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "26238318", "url": "https://glygen.org/publication/PubMed/26238318" } ] }, { "title": "A Cereblon Modulator (CC-220) with Improved Degradation of Ikaros and Aiolos.", "journal": "Journal of medicinal chemistry", "date": "2018", "authors": "Matyskiela ME, Zhang W, Man HW, Muller G, Khambatta G, Baculi F, Hickman M, LeBrun L, Pagarigan B, Carmel G, Lu CC, Lu G, Riley M, Satoh Y, Schafer P, Daniel TO, Carmichael J, Cathers BE, Chamberlain PP", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191" } ], "reference": [ { "type": "PubMed", "id": "28425720", "url": "https://glygen.org/publication/PubMed/28425720" } ] }, { "title": "CLOCK Acetylates ASS1 to Drive Circadian Rhythm of Ureagenesis.", "journal": "Molecular cell", "date": "2017", "authors": "Lin R, Mo Y, Zha H, Qu Z, Xie P, Zhu ZJ, Xu Y, Xiong Y, Guan KL", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" } ], "reference": [ { "type": "PubMed", "id": "28985504", "url": "https://glygen.org/publication/PubMed/28985504" } ] }, { "title": "Cloning and sequence analysis of the human and Chinese hamster inosine-5'-monophosphate dehydrogenase cDNAs.", "journal": "J. Biol. Chem.", "date": "1988", "authors": "Collart F R, Huberman E", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" } ], "reference": [ { "type": "PubMed", "id": "2902093", "url": "https://glygen.org/publication/PubMed/2902093" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "P12268", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12268" }, { "database": "O-GlcNAc Atlas", "id": "P12268", "url": "https://oglcnac.org/atlas/detail/P12268" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "The roles of human MTH1, MTH2 and MTH3 proteins in maintaining genome stability under oxidative stress.", "journal": "Mutation research", "date": "2018", "authors": "Hashiguchi K, Hayashi M, Sekiguchi M, Umezu K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "29482072", "url": "https://glygen.org/publication/PubMed/29482072" } ] }, { "title": "Cereblon modulator iberdomide induces degradation of the transcription factors Ikaros and Aiolos: immunomodulation in healthy volunteers and relevance to systemic lupus erythematosus.", "journal": "Annals of the rheumatic diseases", "date": "2018", "authors": "Schafer PH, Ye Y, Wu L, Kosek J, Ringheim G, Yang Z, Liu L, Thomas M, Palmisano M, Chopra R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191" } ], "reference": [ { "type": "PubMed", "id": "29945920", "url": "https://glygen.org/publication/PubMed/29945920" } ] }, { "title": "A First-in-Human Study of Novel Cereblon Modulator Avadomide (CC-122) in Advanced Malignancies.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2019", "authors": "Rasco DW, Papadopoulos KP, Pourdehnad M, Gandhi AK, Hagner PR, Li Y, Wei X, Chopra R, Hege K, DiMartino J, Shih K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191" } ], "reference": [ { "type": "PubMed", "id": "30201761", "url": "https://glygen.org/publication/PubMed/30201761" } ] }, { "title": "ANKRD9 is associated with tumor suppression as a substrate receptor subunit of ubiquitin ligase.", "journal": "Biochimica et biophysica acta. Molecular basis of disease", "date": "2018", "authors": "Lee Y, Lim B, Lee SW, Lee WR, Kim YI, Kim M, Ju H, Kim MY, Kang SJ, Song JJ, Lee JE, Kang C", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" } ], "reference": [ { "type": "PubMed", "id": "30293565", "url": "https://glygen.org/publication/PubMed/30293565" } ] }, { "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": "P12268", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12268" } ], "reference": [ { "type": "PubMed", "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "title": "Azathioprine Biotransformation in Young Patients with Inflammatory Bowel Disease: Contribution of Glutathione-S Transferase M1 and A1 Variants.", "journal": "Genes", "date": "2019", "authors": "Lucafo M, Stocco G, Martelossi S, Favretto D, Franca R, Malusa N, Lora A, Bramuzzo M, Naviglio S, Cecchin E, Toffoli G, Ventura A, Decorti G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "30987408", "url": "https://glygen.org/publication/PubMed/30987408" } ] }, { "title": "Targeting RIPK1 for the treatment of human diseases.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2019", "authors": "Degterev A, Ofengeim D, Yuan J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191" } ], "reference": [ { "type": "PubMed", "id": "31048504", "url": "https://glygen.org/publication/PubMed/31048504" } ] }, { "title": "ANKRD9 is a metabolically-controlled regulator of IMPDH2 abundance and macro-assembly.", "journal": "J. Biol. Chem.", "date": "2019", "authors": "Hayward D, Kouznetsova VL, Pierson HE, Hasan NM, Guzman ER, Tsigelny IF, Lutsenko S", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" } ], "reference": [ { "type": "PubMed", "id": "31337707", "url": "https://glygen.org/publication/PubMed/31337707" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P12268", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12268" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "The expression and prognostic role of IMPDH2 in ovarian cancer.", "journal": "Annals of diagnostic pathology", "date": "2020", "authors": "Tian Y, Zhang J, Chen L, Zhang X", "evidence": [ { "database": "GlyGen", "id": "A0283", "url": "https://data.glygen.org/GLY_000625" } ], "reference": [ { "type": "PubMed", "id": "32305001", "url": "https://glygen.org/publication/PubMed/32305001" } ] }, { "title": "Tandem Bioorthogonal Labeling Uncovers Endogenous Cotranslationally O-GlcNAc Modified Nascent Proteins.", "journal": "Journal of the American Chemical Society", "date": "2020", "authors": "Zhu Y, Willems LI, Salas D, Cecioni S, Wu WB, Foster LJ, Vocadlo DJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "P12268", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12268" } ], "reference": [ { "type": "PubMed", "id": "32870666", "url": "https://glygen.org/publication/PubMed/32870666" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P12268", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12268" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "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": "P12268", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12268" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P12268", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12268" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "O-GlcNAcylation promotes fatty acid synthase activity under nutritional stress as a pro-survival mechanism in cancer cells.", "journal": "Proteomics", "date": "2022", "authors": "Wong YK, Wang J, Lim TK, Lin Q, Yap CT, Shen HM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P12268", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12268" } ], "reference": [ { "type": "PubMed", "id": "35083852", "url": "https://glygen.org/publication/PubMed/35083852" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P12268", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12268" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "title": "c-Myc-IMPDH1/2 axis promotes tumourigenesis by regulating GTP metabolic reprogramming.", "journal": "Clinical and translational medicine", "date": "2023-01", "authors": "Zhang Qiang, Cui Kaisa, Yang Xiaoya, He Qilang, Yu Jing, Yang Li, Yao Gang, Guo Weiwei, Luo Zhanhao, Liu Yugeng, Chen Yuan, He Zhen, Lan Ping", "evidence": [ { "database": "RefSeq", "id": "NP_000875", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000875" } ], "reference": [ { "type": "PubMed", "id": "36629054", "url": "https://glygen.org/publication/PubMed/36629054" } ] }, { "title": "Rare variants in IMPDH2 cause autosomal dominant dystonia in Chinese population.", "journal": "Journal of neurology", "date": "2023-04", "authors": "Lin Junyu, Li Chunyu, Cui Yiyuan, Hou Yanbing, Zhang Lingyu, Ou Ruwei, Wei Qianqian, Liu Kuncheng, Yang Tianmi, Xiao Yi, Jiang Qirui, Zhao Bi, Yang Jing, Chen Xueping, Shang Huifang", "evidence": [ { "database": "RefSeq", "id": "NP_000875", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000875" } ], "reference": [ { "type": "PubMed", "id": "36648520", "url": "https://glygen.org/publication/PubMed/36648520" } ] }, { "title": "Genetic analysis of IMPDH2 gene in Taiwanese patients with isolated or combined dystonia.", "journal": "Parkinsonism & related disorders", "date": "2023-02", "authors": "Chen Pin-Shiuan, Wu Meng-Chen, Tai Chun-Hwei, Chang Yung-Yee, Lan Min-Yu, Chen Ying-Fa, Lin Han-I, Lee Ni-Chung, Lin Chin-Hsien", "evidence": [ { "database": "RefSeq", "id": "NP_000875", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000875" } ], "reference": [ { "type": "PubMed", "id": "36657279", "url": "https://glygen.org/publication/PubMed/36657279" } ] }, { "title": "Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation.", "journal": "The Journal of biological chemistry", "date": "2023-08", "authors": "O'Neill Audrey G, Burrell Anika L, Zech Michael, Elpeleg Orly, Harel Tamar, Edvardson Simon, Mor-Shaked Hagar, Rippert Alyssa L, Nomakuchi Tomoki, Izumi Kosuke, Kollman Justin M", "evidence": [ { "database": "RefSeq", "id": "NP_000875", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000875" } ], "reference": [ { "type": "PubMed", "id": "37414152", "url": "https://glygen.org/publication/PubMed/37414152" } ] }, { "title": "Single-cell RNA sequencing in double-hit lymphoma: IMPDH2 induces the progression of lymphoma by activating the PI3K/AKT/mTOR signaling pathway.", "journal": "International immunopharmacology", "date": "2023-12", "authors": "Gao Guangcan, Xue Qingfeng, He Jing, Wu Meng, Jiang Yongning, Li Quanqing, Zhang Yaping, Shi Wenyu", "evidence": [ { "database": "RefSeq", "id": "NP_000875", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000875" } ], "reference": [ { "type": "PubMed", "id": "37907047", "url": "https://glygen.org/publication/PubMed/37907047" } ] }, { "title": "Human glutamine phosphoribosylpyrophosphate amidotransferase. Kinetic and regulatory properties.", "journal": "The Journal of biological chemistry", "date": "1973", "authors": "Holmes EW, McDonald JA, McCord JM, Wyngaarden JB, Kelley WN", "evidence": [ { "database": "Reactome", "id": "R-HSA-73817", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73817" } ], "reference": [ { "type": "PubMed", "id": "4348202", "url": "https://glygen.org/publication/PubMed/4348202" } ] }, { "title": "Human glutamine phosphoribosylpyrophosphate amidotransferase. 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An oxygen-sensitive iron-sulfur protein.", "journal": "The Journal of biological chemistry", "date": "1979", "authors": "Itakura M, Holmes EW", "evidence": [ { "database": "Reactome", "id": "R-HSA-73817", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73817" } ], "reference": [ { "type": "PubMed", "id": "762062", "url": "https://glygen.org/publication/PubMed/762062" } ] }, { "title": "Biochemical characterization of human GMP synthetase.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Nakamura J, Lou L", "evidence": [ { "database": "Reactome", "id": "R-HSA-73817", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73817" } ], "reference": [ { "type": "PubMed", "id": "7706277", "url": "https://glygen.org/publication/PubMed/7706277" } ] }, { "title": "Recombinant human inosine monophosphate dehydrogenase type I and type II proteins. 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Chem.", "date": "1995", "authors": "Zimmermann A G, Spychala J, Mitchell B S", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" } ], "reference": [ { "type": "PubMed", "id": "7896827", "url": "https://glygen.org/publication/PubMed/7896827" } ] }, { "title": "Characterization of human type I and type II IMP dehydrogenases.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Carr SF, Papp E, Wu JC, Natsumeda Y", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" }, { "database": "Reactome", "id": "R-HSA-73817", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73817" } ], "reference": [ { "type": "PubMed", "id": "7903306", "url": "https://glygen.org/publication/PubMed/7903306" } ] }, { "title": "Cloning and sequence of the human type II IMP dehydrogenase gene.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1994", "authors": "Glesne D A, Huberman E", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" } ], "reference": [ { "type": "PubMed", "id": "7999076", "url": "https://glygen.org/publication/PubMed/7999076" } ] }, { "title": "Human GMP synthetase. 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"https://www.ebi.ac.uk/QuickGO/term/GO:0006164", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" } ], "pmid": "" }, { "name": "cellular response to interleukin-4", "id": "GO:0071353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071353", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" } ], "pmid": "" }, { "name": "lymphocyte proliferation", "id": "GO:0046651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046651", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" } ], "pmid": "" }, { "name": "GMP biosynthetic process", "id": "GO:0006177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006177", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" } ], "pmid": "" }, { "name": "GTP biosynthetic process", "id": "GO:0006183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006183", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" } ], "pmid": "" }, { "name": "'de novo' XMP biosynthetic process", "id": "GO:0097294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097294", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "IMP dehydrogenase activity", "id": "GO:0003938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003938", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" } ], "pmid": "" }, { "name": "nucleotide binding", "id": "GO:0000166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000166", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 9, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" } ], "pmid": "" }, { "name": "peroxisomal membrane", "id": "GO:0005778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005778", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" } ], "pmid": "" }, { "name": "secretory granule lumen", "id": "GO:0034774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034774", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" } ], "pmid": "" }, { "name": "ficolin-1-rich granule lumen", "id": "GO:1904813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904813", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 94, "end_pos": 96, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Acetylated by CLOCK in a circadian manner (PubMed:28985504).", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" }, { "database": "PubMed", "id": "28985504", "url": "https://glygen.org/publication/PubMed/28985504" } ] }, { "annotation": "Ubiquitinated leading to its degradation by the proteasome.", "evidence": [ { "database": "UniProtKB", "id": "P12268", "url": "https://www.uniprot.org/uniprot/P12268" }, { "database": "PubMed", "id": "30293565", "url": "https://glygen.org/publication/PubMed/30293565" } ] } ], "interactions": [], "reactions": [ { "id": "11708", "name": "", "equation": "H2O + IMP + NAD(+) = H(+) + NADH + XMP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "D3ZLZ7-1", "E9PU28-1", "P12268-1", "P20839-1", "P24547-1", "P50096-1", "P38697-1", "P50094-1", "P50095-1", "Q54QQ0-1", "Q07152-1" ], "evidence": [ { "id": "11708", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/11708" } ] }, { "id": "R-HSA-6798748", "name": "Exocytosis of secretory granule lumen proteins", "equation": "", "summary": "Secretory vesicles provide a reservoir of secreted proteins and membrane-associated receptors that are required at the earliest stages of the neutrophil-mediated inflammatory response. They are mobilized in response to a wide variety of inflammatory stimuli (Sengelov et al. 1993a,b). Resultant cell surface changes allow the neutrophil to establish firm contact with activated vascular epithelium (Faurschou & Borregaard 2003).", "cellular_location": "extracellular region, secretory granule lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P18669-1", "Q13464-1", "P32320-1", "P09917-1", "O00487-1", "P13639-1", "P12268-1", "P62937-1", "Q96G03-1", "P68402-1", "Q99436-1", "P55072-1", "P68104-1", "P11142-1", "Q9Y315-1", "P13010-1", "P04075-1", "P09972-1", "P07900-1", "P09769-1", "P09211-1", "Q16539-1", "P14618-1", "P07741-1", "Q01432-1", "P12956-1", "Q7Z6Z7-1", "Q9UNP9-1", "P14174-1", "P04040-1", "O00571-1", "P06744-1", "P52790-1", "P11678-1", "P00491-1", "P06737-1", "P00746-1", "Q13162-1", "P17858-1", "P46976-1", "P22392-1", "P13716-1", "O75874-1", "P20839-1", "O00764-1" ], "evidence": [ { "id": "R-HSA-6798748", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798748" } ] }, { "id": "R-HSA-6800434", "name": "Exocytosis of ficolin-rich granule lumen proteins", "equation": "", "summary": "Ficoli-1 rich granules are a relatively new fourth neutrophil granule population that is enriched in the microbial lectin ficolin-1. Ficolin-1 is present in tertiary granules, but ficolin-1 rich granules can be differentiated by having low levels of gelatinases and an elevated exocytosis propensity (Rorvig et al. 2009, 2013). The importance of these granules may be to provide rapid release of pattern recognition molecules to activate the lectin complement pathway (Rorvig et al. 2009).", "cellular_location": "extracellular region, ficolin-1-rich granule lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9UBR2-1", "P18669-1", "P32320-1", "P09917-1", "O00487-1", "P13639-1", "P12268-1", "P62937-1", "P15586-1", "Q96G03-1", "Q9P0J7-1", "P68402-1", "P36871-1", "Q99436-1", "P07339-1", "P13798-1", "P53396-1", "P55072-1", "P68104-1", "P11142-1", "Q9Y315-1", "P04075-1", "P09972-1", "P07900-1", "P09211-1", "Q16539-1", "P07858-1", "P14618-1", "P28482-1", "Q01432-1", "P12956-1", "Q7Z6Z7-1", "Q9UNP9-1", "Q13510-1", "P14174-1", "P15848-1", "P16278-1", "Q8WVQ1-1", "P04040-1", "O00571-1", "P14780-1", "P06744-1", "P52790-1", "P00491-1", "P06737-1", "Q16769-1", "P08236-1", "P02794-1", "P07384-1", "Q14004-1", "P00746-1", "P98066-1", "P25774-1", "Q13162-1", "P17858-1", "P46976-1", "P09960-1", "P22392-1", "P13716-1", "O75874-1", "P20839-1" ], "evidence": [ { "id": "R-HSA-6800434", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6800434" } ] }, { "id": "R-HSA-73794", "name": "IMP + H2O + NAD+ => XMP + NADH + H+ [IMPDH1,2]", "equation": "", "summary": "Two human isoenzymes, IMP dehydrogenase 1 and 2 (IMPDH1,2) catalyze the irreversible dehydrogenation of inosine 5'-monophosphate (IMP) to form xanthosine 5'-monophosphate (XMP). The active forms of both isoenzymes are homotetramers, and they are nearly identical in their catalytic efficiencies and their susceptibility to inhibition by XMP (Carr et al. 1993; Colby et al. 1999; Hager et al. 1995). Both enzymes occur as homotetramers (Colby et al. 1999 - IMPDH2; unpubliched data in PDB 1JCN IMPDH1). A variety of experiments suggest that IMPDH1 and 2 have distinct functions in vivo. While IMPDH1 is expressed at constant levels, IMPDH2 is expressed at elevated levels in tumor cells and in mitotic normal cells. In humans, heterozygosity for mutant forms of IMPDH1 is associated with a form of retinitis pigmentosa (Bowne et al. 2002). In laboratory mice, mutations that disrupt the homologue of IMPDH1 have no obvious effect at the level of the whole organism, while ones that disrupt IMPDH2 are lethal (Gu et al. 2003).

This reaction is the rate limiting step in the synthesis of guanosine 5'-monophosphate (GMP) from IMP, and GMP competitively inhibits the well-characterized bacterial IMP dehydrogenase enzyme. Evidence for an inhibitory effect of GMP on the human isoenzymes has not been reported. Rather, they appear to be inhibited by XMP; in addition, transcription of one or both IMP dehydrogenase mRNAs may be inhibited by high cellular GMP concentrations (Glesne et al. 1991).", "cellular_location": "cytosol", "input_participant_list": [ "R-ALL-29602" ], "output_participant_list": [], "enzyme_list": [ "P12268-1", "P20839-1" ], "evidence": [ { "id": "R-HSA-73794", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73794" } ] }, { "id": "R-HSA-9678749", "name": "IMPDH tetramers binds IMPDH inhibitors", "equation": "", "summary": "Inhibition of host inosine monophosphate dehydrogenases 1 and 2 (IMPDH1, IMPDH2) and subsequent depletion of cellular GTP pools is proposed to be a mechanism of action of IMPDH inhibitors (ribavirin, thioguanine, mycophenolic acid). IMPDH tetramers catalyzes the rate-limiting step where inosine 5\u2032-monophosphate is converted to xanthine monophosphate during guanosine monophosphate (GMP) synthesis. GMP is later converted to guanosine triphosphate (GTP). IMPDH inhibitors mimic inosine 5\u2032-monophosphate and act as competitive inhibitors of IMPDH (Nelson et al. 1990, Vethe et al. 2008, Elgemeie 2003, Te et al. 2007). Inhibited de novo synthesis of guanine nucleotides and decreased intracellular GTP pools leads to a decline in viral protein synthesis and limit replication of viral genomes (Mori et al. 2011).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P12268-1", "P20839-1" ], "evidence": [ { "id": "R-HSA-9678749", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9678749" } ] }, { "id": "R-HSA-9748945", "name": "IMPDH tetramers dehydrogenate 6TIMP to 6TXMP", "equation": "", "summary": "Inosine 5\u2032-monophosphate dehydrogenase (IMPDH) is a key enzyme in the de novo synthesis of guanine nucleotides and is positioned at the branch point between adenine and guanine biosynthesis. It is also strategically positioned in the metabolic pathway of thiopurines. IMPDH is considered to be the rate-limiting enzyme in the metabolism of thiopurine drugs to 6-thioguanine nucleotides (6-TGNs) (Leyva et al. 1976). IMPDH dehydrogenates 6-thioinosine 5\u2019-monophosphate (6TIMP) to 6-thioxanthosine 5'-monophosphate (6TXMP), an intermediate metabolite in the formation of 6-TGNs.
", "cellular_location": "cytosol", "input_participant_list": [ "R-ALL-9748992" ], "output_participant_list": [], "enzyme_list": [ "P12268-1", "P20839-1" ], "evidence": [ { "id": "R-HSA-9748945", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748945" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-29602", "participant_name": "IMP [cytosol]", "crossref": [ { "id": "C00130", "database": "COMPOUND", "url": "" }, { "id": "58053", "database": "ChEBI", "url": "" }, { "id": "000004228242", "database": "ZINC", "url": "" }, { "id": "C00130", "database": "COMPOUND", "url": "" }, { "id": "58053", "database": "ChEBI", "url": "" }, { "id": "000004228242", "database": "ZINC", "url": "" }, { "id": "C00130", "database": "COMPOUND", "url": "" }, { "id": "58053", "database": "ChEBI", "url": "" }, { "id": "000004228242", "database": "ZINC", "url": "" }, { "id": "C00130", "database": "COMPOUND", "url": "" }, { "id": "58053", "database": "ChEBI", "url": "" }, { "id": "000004228242", "database": "ZINC", "url": "" }, { "id": "C00130", "database": "COMPOUND", "url": "" }, { "id": "58053", "database": "ChEBI", "url": "" }, { "id": "000004228242", "database": "ZINC", "url": "" }, { "id": "C00130", "database": "COMPOUND", "url": "" }, { "id": "58053", "database": "ChEBI", "url": "" }, { "id": "000004228242", "database": "ZINC", "url": "" }, { "id": "C00130", "database": "COMPOUND", "url": "" }, { "id": "58053", "database": "ChEBI", "url": "" }, { "id": "000004228242", "database": "ZINC", "url": "" } ] }, { "participant_id": "R-ALL-9748992", "participant_name": "6TIMP [cytosol]", "crossref": [ { "id": "180684", "database": "ChEBI", "url": "" }, { "id": "180684", "database": "ChEBI", "url": "" }, { "id": "180684", "database": "ChEBI", "url": "" }, { "id": "180684", "database": "ChEBI", "url": "" }, { "id": "180684", "database": "ChEBI", "url": "" }, { "id": "180684", "database": "ChEBI", "url": "" }, { "id": "180684", "database": "ChEBI", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "D3ZLZ7", "gene_name": "Impdh1", "activity": [ { "ec_number": "1.1.1.205", "activity": "H2O + IMP + NAD(+) = H(+) + NADH + XMP.", "evidence": [ { "id": "D3ZLZ7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZLZ7" } ] }, { "ec_number": "1.1.1.205", "activity": "", "evidence": [ { "id": "D3ZLZ7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZLZ7" } ] } ] }, { "uniprot_ac": "E9PU28", "gene_name": "Impdh2", "activity": [ { "ec_number": "1.1.1.205", "activity": "H2O + IMP + NAD(+) = H(+) + NADH + XMP.", "evidence": [ { "id": "E9PU28", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/E9PU28" } ] }, { "ec_number": "1.1.1.205", "activity": "", "evidence": [ { "id": "E9PU28", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/E9PU28" } ] } ] }, { "uniprot_ac": "O00487", "gene_name": "PSMD14", "activity": [ { "ec_number": "3.4.19.-", "activity": "", "evidence": [ { "id": "O00487", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00487" } ] } ] }, { "uniprot_ac": "O00571", "gene_name": "DDX3X", "activity": [ { "ec_number": "3.6.4.13", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "O00571", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00571" } ] }, { "ec_number": "3.6.4.13", "activity": "", "evidence": [ { "id": "O00571", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00571" } ] } ] }, { "uniprot_ac": "O00764", "gene_name": "PDXK", "activity": [ { "ec_number": "2.7.1.35", "activity": "ATP + pyridoxal = ADP + H(+) + pyridoxal 5'-phosphate.", "evidence": [ { "id": "O00764", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00764" } ] }, { "ec_number": "2.7.1.35", "activity": "", "evidence": [ { "id": "O00764", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00764" } ] } ] }, { "uniprot_ac": "O75874", "gene_name": "IDH1", "activity": [ { "ec_number": "1.1.1.42", "activity": "D-threo-isocitrate + NADP(+) = 2-oxoglutarate + CO2 + NADPH.", "evidence": [ { "id": "O75874", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75874" } ] }, { "ec_number": "1.1.1.42", "activity": "", "evidence": [ { "id": "O75874", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75874" } ] } ] }, { "uniprot_ac": "P00491", "gene_name": "PNP", "activity": [ { "ec_number": "2.4.2.1", "activity": "a purine 2'-deoxy-D-ribonucleoside + phosphate = 2-deoxy-alpha-D-ribose 1-phosphate + a purine nucleobase.", "evidence": [ { "id": "P00491", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00491" } ] }, { "ec_number": "2.4.2.1", "activity": "", "evidence": [ { "id": "P00491", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00491" } ] } ] }, { "uniprot_ac": "P00746", "gene_name": "CFD", "activity": [ { "ec_number": "3.4.21.46", "activity": "Selective cleavage of Arg-|-Lys bond in complement factor B when in complex with complement subcomponent C3b or with cobra venom factor.", "evidence": [ { "id": "P00746", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00746" } ] }, { "ec_number": "3.4.21.46", "activity": "", "evidence": [ { "id": "P00746", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00746" } ] } ] }, { "uniprot_ac": "P02794", "gene_name": "FTH1", "activity": [ { "ec_number": "1.16.3.1", "activity": "4 Fe(2+) + 4 H(+) + O2 = 4 Fe(3+) + 2 H2O.", "evidence": [ { "id": "P02794", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02794" } ] }, { "ec_number": "1.16.3.1", "activity": "", "evidence": [ { "id": "P02794", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02794" } ] } ] }, { "uniprot_ac": "P04040", "gene_name": "CAT", "activity": [ { "ec_number": "1.11.1.6", "activity": "2 H2O2 = 2 H2O + O2.", "evidence": [ { "id": "P04040", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04040" } ] }, { "ec_number": "1.11.1.6", "activity": "", "evidence": [ { "id": "P04040", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04040" } ] } ] }, { "uniprot_ac": "P04075", "gene_name": "ALDOA", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "P04075", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04075" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "P04075", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04075" } ] } ] }, { "uniprot_ac": "P06737", "gene_name": "PYGL", "activity": [ { "ec_number": "2.4.1.1", "activity": "[(1->4)-alpha-D-glucosyl](n) + phosphate = [(1->4)-alpha-D-glucosyl](n-1) + alpha-D-glucose 1-phosphate.", "evidence": [ { "id": "P06737", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06737" } ] }, { "ec_number": "2.4.1.1", "activity": "", "evidence": [ { "id": "P06737", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06737" } ] } ] }, { "uniprot_ac": "P06744", "gene_name": "GPI", "activity": [ { "ec_number": "5.3.1.9", "activity": "alpha-D-glucose 6-phosphate = beta-D-fructose 6-phosphate.", "evidence": [ { "id": "P06744", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06744" } ] }, { "ec_number": "5.3.1.9", "activity": "", "evidence": [ { "id": "P06744", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06744" } ] } ] }, { "uniprot_ac": "P07339", "gene_name": "CTSD", "activity": [ { "ec_number": "3.4.23.5", "activity": "Specificity similar to, but narrower than, that of pepsin A. Does not cleave the 4-Gln-|-His-5 bond in B chain of insulin.", "evidence": [ { "id": "P07339", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07339" } ] }, { "ec_number": "3.4.23.5", "activity": "", "evidence": [ { "id": "P07339", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07339" } ] } ] }, { "uniprot_ac": "P07384", "gene_name": "CAPN1", "activity": [ { "ec_number": "3.4.22.52", "activity": "Broad endopeptidase specificity.", "evidence": [ { "id": "P07384", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07384" } ] }, { "ec_number": "3.4.22.52", "activity": "", "evidence": [ { "id": "P07384", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07384" } ] } ] }, { "uniprot_ac": "P07741", "gene_name": "APRT", "activity": [ { "ec_number": "2.4.2.7", "activity": "AMP + diphosphate = 5-phospho-alpha-D-ribose 1-diphosphate + adenine.", "evidence": [ { "id": "P07741", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07741" } ] }, { "ec_number": "2.4.2.7", "activity": "", "evidence": [ { "id": "P07741", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07741" } ] } ] }, { "uniprot_ac": "P07858", "gene_name": "CTSB", "activity": [ { "ec_number": "3.4.22.1", "activity": "Hydrolysis of proteins with broad specificity for peptide bonds. Preferentially cleaves -Arg-Arg-|-Xaa bonds in small molecule substrates (thus differing from cathepsin L). In addition to being an endopeptidase, shows peptidyl-dipeptidase activity, liberating C-terminal dipeptides.", "evidence": [ { "id": "P07858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07858" } ] }, { "ec_number": "3.4.22.1", "activity": "", "evidence": [ { "id": "P07858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07858" } ] } ] }, { "uniprot_ac": "P07900", "gene_name": "HSP90AA1", "activity": [ { "ec_number": "3.6.4.10", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P07900", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07900" } ] }, { "ec_number": "3.6.4.10", "activity": "", "evidence": [ { "id": "P07900", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07900" } ] } ] }, { "uniprot_ac": "P08236", "gene_name": "GUSB", "activity": [ { "ec_number": "3.2.1.31", "activity": "a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate.", "evidence": [ { "id": "P08236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08236" } ] }, { "ec_number": "3.2.1.31", "activity": "", "evidence": [ { "id": "P08236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08236" } ] } ] }, { "uniprot_ac": "P09211", "gene_name": "GSTP1", "activity": [ { "ec_number": "2.5.1.18", "activity": "glutathione + RX = a halide anion + an S-substituted glutathione + H(+).", "evidence": [ { "id": "P09211", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09211" } ] }, { "ec_number": "2.5.1.18", "activity": "", "evidence": [ { "id": "P09211", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09211" } ] } ] }, { "uniprot_ac": "P09769", "gene_name": "FGR", "activity": [ { "ec_number": "2.7.10.2", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "P09769", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09769" } ] }, { "ec_number": "2.7.10.2", "activity": "", "evidence": [ { "id": "P09769", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09769" } ] } ] }, { "uniprot_ac": "P09917", "gene_name": "ALOX5", "activity": [ { "ec_number": "1.13.11.-", "activity": "", "evidence": [ { "id": "P09917", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09917" } ] }, { "ec_number": "1.13.11.34", "activity": "(5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 = H2O + leukotriene A4.", "evidence": [ { "id": "P09917", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09917" } ] } ] }, { "uniprot_ac": "P09960", "gene_name": "LTA4H", "activity": [ { "ec_number": "3.3.2.6", "activity": "H2O + leukotriene A4 = leukotriene B4.", "evidence": [ { "id": "P09960", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09960" } ] }, { "ec_number": "3.4.11.4", "activity": "Release of the N-terminal residue from a tripeptide.", "evidence": [ { "id": "P09960", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09960" } ] }, { "ec_number": "3.3.2.6", "activity": "", "evidence": [ { "id": "P09960", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09960" } ] } ] }, { "uniprot_ac": "P09972", "gene_name": "ALDOC", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "P09972", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09972" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "P09972", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09972" } ] } ] }, { "uniprot_ac": "P11142", "gene_name": "HSPA8", "activity": [ { "ec_number": "3.6.4.10", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P11142", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11142" } ] }, { "ec_number": "3.6.4.10", "activity": "", "evidence": [ { "id": "P11142", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11142" } ] } ] }, { "uniprot_ac": "P11678", "gene_name": "EPX", "activity": [ { "ec_number": "1.11.1.7", "activity": "2 a phenolic donor + H2O2 = 2 a phenolic radical donor + 2 H2O.", "evidence": [ { "id": "P11678", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11678" } ] }, { "ec_number": "1.11.1.7", "activity": "", "evidence": [ { "id": "P11678", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11678" } ] } ] }, { "uniprot_ac": "P12268", "gene_name": "IMPDH2", "activity": [ { "ec_number": "1.1.1.205", "activity": "H2O + IMP + NAD(+) = H(+) + NADH + XMP.", "evidence": [ { "id": "P12268", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12268" } ] }, { "ec_number": "1.1.1.205", "activity": "", "evidence": [ { "id": "P12268", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12268" } ] } ] }, { "uniprot_ac": "P12956", "gene_name": "XRCC6", "activity": [ { "ec_number": "4.2.99.-", "activity": "", "evidence": [ { "id": "P12956", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12956" } ] }, { "ec_number": "3.6.4.-", "activity": "", "evidence": [ { "id": "P12956", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12956" } ] } ] }, { "uniprot_ac": "P13010", "gene_name": "XRCC5", "activity": [ { "ec_number": "3.6.4.-", "activity": "", "evidence": [ { "id": "P13010", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13010" } ] } ] }, { "uniprot_ac": "P13639", "gene_name": "EEF2", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P13639", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13639" } ] } ] }, { "uniprot_ac": "P13716", "gene_name": "ALAD", "activity": [ { "ec_number": "4.2.1.24", "activity": "2 5-aminolevulinate = H(+) + 2 H2O + porphobilinogen.", "evidence": [ { "id": "P13716", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13716" } ] }, { "ec_number": "4.2.1.24", "activity": "", "evidence": [ { "id": "P13716", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13716" } ] } ] }, { "uniprot_ac": "P13798", "gene_name": "APEH", "activity": [ { "ec_number": "3.4.19.1", "activity": "Internal cleavage of oxidized and glycated proteins.", "evidence": [ { "id": "P13798", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13798" } ] }, { "ec_number": "3.4.19.1", "activity": "", "evidence": [ { "id": "P13798", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13798" } ] } ] }, { "uniprot_ac": "P14174", "gene_name": "MIF", "activity": [ { "ec_number": "5.3.2.1", "activity": "3-phenylpyruvate = enol-phenylpyruvate.", "evidence": [ { "id": "P14174", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14174" } ] }, { "ec_number": "5.3.3.12", "activity": "L-dopachrome = 5,6-dihydroxyindole-2-carboxylate.", "evidence": [ { "id": "P14174", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14174" } ] }, { "ec_number": "5.3.2.1", "activity": "", "evidence": [ { "id": "P14174", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14174" } ] } ] }, { "uniprot_ac": "P14618", "gene_name": "PKM", "activity": [ { "ec_number": "2.7.1.40", "activity": "CTP + pyruvate = CDP + H(+) + phosphoenolpyruvate.", "evidence": [ { "id": "P14618", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14618" } ] }, { "ec_number": "2.7.1.40", "activity": "", "evidence": [ { "id": "P14618", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14618" } ] }, { "ec_number": "2.7.10.2", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "P14618", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14618" } ] }, { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P14618", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14618" } ] } ] }, { "uniprot_ac": "P14780", "gene_name": "MMP9", "activity": [ { "ec_number": "3.4.24.35", "activity": "Cleavage of gelatin types I and V and collagen types IV and V.", "evidence": [ { "id": "P14780", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14780" } ] }, { "ec_number": "3.4.24.35", "activity": "", "evidence": [ { "id": "P14780", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14780" } ] } ] }, { "uniprot_ac": "P15586", "gene_name": "GNS", "activity": [ { "ec_number": "3.1.6.14", "activity": "Hydrolysis of the 6-sulfate groups of the N-acetyl-D-glucosamine 6-sulfate units of heparan sulfate and keratan sulfate.", "evidence": [ { "id": "P15586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15586" } ] }, { "ec_number": "3.1.6.14", "activity": "", "evidence": [ { "id": "P15586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15586" } ] } ] }, { "uniprot_ac": "P15848", "gene_name": "ARSB", "activity": [ { "ec_number": "3.1.6.12", "activity": "Hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate.", "evidence": [ { "id": "P15848", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15848" } ] }, { "ec_number": "3.1.6.12", "activity": "", "evidence": [ { "id": "P15848", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15848" } ] } ] }, { "uniprot_ac": "P16278", "gene_name": "GLB1", "activity": [ { "ec_number": "3.2.1.23", "activity": "Hydrolysis of terminal non-reducing beta-D-galactose residues in beta-D-galactosides.", "evidence": [ { "id": "P16278", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16278" } ] }, { "ec_number": "3.2.1.23", "activity": "", "evidence": [ { "id": "P16278", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16278" } ] } ] }, { "uniprot_ac": "P17858", "gene_name": "PFKL", "activity": [ { "ec_number": "2.7.1.11", "activity": "ATP + beta-D-fructose 6-phosphate = ADP + beta-D-fructose 1,6-bisphosphate + H(+).", "evidence": [ { "id": "P17858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17858" } ] }, { "ec_number": "2.7.1.11", "activity": "", "evidence": [ { "id": "P17858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17858" } ] } ] }, { "uniprot_ac": "P18669", "gene_name": "PGAM1", "activity": [ { "ec_number": "5.4.2.11", "activity": "(2R)-2-phosphoglycerate = (2R)-3-phosphoglycerate.", "evidence": [ { "id": "P18669", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18669" } ] }, { "ec_number": "5.4.2.4", "activity": "(2R)-3-phospho-glyceroyl phosphate = (2R)-2,3-bisphosphoglycerate + H(+).", "evidence": [ { "id": "P18669", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18669" } ] }, { "ec_number": "5.4.2.4", "activity": "", "evidence": [ { "id": "P18669", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18669" } ] }, { "ec_number": "5.4.2.11", "activity": "", "evidence": [ { "id": "P18669", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18669" } ] } ] }, { "uniprot_ac": "P20839", "gene_name": "IMPDH1", "activity": [ { "ec_number": "1.1.1.205", "activity": "H2O + IMP + NAD(+) = H(+) + NADH + XMP.", "evidence": [ { "id": "P20839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20839" } ] }, { "ec_number": "1.1.1.205", "activity": "", "evidence": [ { "id": "P20839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20839" } ] } ] }, { "uniprot_ac": "P22392", "gene_name": "NME2", "activity": [ { "ec_number": "2.7.4.6", "activity": "a ribonucleoside 5'-diphosphate + ATP = a ribonucleoside 5'-triphosphate + ADP.", "evidence": [ { "id": "P22392", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22392" } ] }, { "ec_number": "2.7.13.3", "activity": "ATP + protein L-histidine = ADP + protein N-phospho-L-histidine.", "evidence": [ { "id": "P22392", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22392" } ] }, { "ec_number": "2.7.4.6", "activity": "", "evidence": [ { "id": "P22392", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22392" } ] }, { "ec_number": "2.7.13.3", "activity": "", "evidence": [ { "id": "P22392", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22392" } ] } ] }, { "uniprot_ac": "P24547", "gene_name": "Impdh2", "activity": [ { "ec_number": "1.1.1.205", "activity": "H2O + IMP + NAD(+) = H(+) + NADH + XMP.", "evidence": [ { "id": "P24547", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24547" } ] }, { "ec_number": "1.1.1.205", "activity": "", "evidence": [ { "id": "P24547", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24547" } ] } ] }, { "uniprot_ac": "P25774", "gene_name": "CTSS", "activity": [ { "ec_number": "3.4.22.27", "activity": "Similar to cathepsin L, but with much less activity on Z-Phe-Arg-|-NHMec, and more activity on the Z-Val-Val-Arg-|-Xaa compound.", "evidence": [ { "id": "P25774", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P25774" } ] }, { "ec_number": "3.4.22.27", "activity": "", "evidence": [ { "id": "P25774", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P25774" } ] } ] }, { "uniprot_ac": "P28482", "gene_name": "MAPK1", "activity": [ { "ec_number": "2.7.11.24", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P28482", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28482" } ] }, { "ec_number": "2.7.11.24", "activity": "", "evidence": [ { "id": "P28482", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28482" } ] } ] }, { "uniprot_ac": "P32320", "gene_name": "CDA", "activity": [ { "ec_number": "3.5.4.5", "activity": "2'-deoxycytidine + H(+) + H2O = 2'-deoxyuridine + NH4(+).", "evidence": [ { "id": "P32320", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32320" } ] }, { "ec_number": "3.5.4.5", "activity": "", "evidence": [ { "id": "P32320", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32320" } ] } ] }, { "uniprot_ac": "P36871", "gene_name": "PGM1", "activity": [ { "ec_number": "5.4.2.2", "activity": "alpha-D-glucose 1-phosphate = alpha-D-glucose 6-phosphate.", "evidence": [ { "id": "P36871", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36871" } ] }, { "ec_number": "5.4.2.2", "activity": "", "evidence": [ { "id": "P36871", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36871" } ] } ] }, { "uniprot_ac": "P38697", "gene_name": "IMD2", "activity": [ { "ec_number": "1.1.1.205", "activity": "H2O + IMP + NAD(+) = H(+) + NADH + XMP.", "evidence": [ { "id": "P38697", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P38697" } ] }, { "ec_number": "1.1.1.205", "activity": "", "evidence": [ { "id": "P38697", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P38697" } ] } ] }, { "uniprot_ac": "P46976", "gene_name": "GYG1", "activity": [ { "ec_number": "2.4.1.186", "activity": "[1,4-alpha-D-glucosyl](n)-L-tyrosyl-[glycogenin] + UDP-alpha-D-glucose = [1,4-alpha-D-glucosyl](n+1)-L-tyrosyl-[glycogenin] + H(+) + UDP.", "evidence": [ { "id": "P46976", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P46976" } ] }, { "ec_number": "2.4.1.186", "activity": "", "evidence": [ { "id": "P46976", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P46976" } ] } ] }, { "uniprot_ac": "P50094", "gene_name": "IMD4", "activity": [ { "ec_number": "1.1.1.205", "activity": "H2O + IMP + NAD(+) = H(+) + NADH + XMP.", "evidence": [ { "id": "P50094", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50094" } ] }, { "ec_number": "1.1.1.205", "activity": "", "evidence": [ { "id": "P50094", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50094" } ] } ] }, { "uniprot_ac": "P50095", "gene_name": "IMD3", "activity": [ { "ec_number": "1.1.1.205", "activity": "H2O + IMP + NAD(+) = H(+) + NADH + XMP.", "evidence": [ { "id": "P50095", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50095" } ] }, { "ec_number": "1.1.1.205", "activity": "", "evidence": [ { "id": "P50095", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50095" } ] } ] }, { "uniprot_ac": "P50096", "gene_name": "Impdh1", "activity": [ { "ec_number": "1.1.1.205", "activity": "H2O + IMP + NAD(+) = H(+) + NADH + XMP.", "evidence": [ { "id": "P50096", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50096" } ] }, { "ec_number": "1.1.1.205", "activity": "", "evidence": [ { "id": "P50096", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50096" } ] } ] }, { "uniprot_ac": "P52790", "gene_name": "HK3", "activity": [ { "ec_number": "2.7.1.1", "activity": "ATP + D-fructose = ADP + D-fructose 6-phosphate + H(+).", "evidence": [ { "id": "P52790", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52790" } ] }, { "ec_number": "2.7.1.1", "activity": "", "evidence": [ { "id": "P52790", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52790" } ] }, { "ec_number": "2.7.1.-", "activity": "", "evidence": [ { "id": "P52790", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52790" } ] } ] }, { "uniprot_ac": "P53396", "gene_name": "ACLY", "activity": [ { "ec_number": "2.3.3.8", "activity": "acetyl-CoA + ADP + oxaloacetate + phosphate = ATP + citrate + CoA.", "evidence": [ { "id": "P53396", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53396" } ] }, { "ec_number": "2.3.3.8", "activity": "", "evidence": [ { "id": "P53396", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53396" } ] } ] }, { "uniprot_ac": "P55072", "gene_name": "VCP", "activity": [ { "ec_number": "3.6.4.6", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P55072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55072" } ] }, { "ec_number": "3.6.4.6", "activity": "", "evidence": [ { "id": "P55072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55072" } ] } ] }, { "uniprot_ac": "P62937", "gene_name": "PPIA", "activity": [ { "ec_number": "5.2.1.8", "activity": "[protein]-peptidylproline (omega=180) = [protein]-peptidylproline (omega=0).", "evidence": [ { "id": "P62937", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62937" } ] }, { "ec_number": "5.2.1.8", "activity": "", "evidence": [ { "id": "P62937", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62937" } ] } ] }, { "uniprot_ac": "P68104", "gene_name": "EEF1A1", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P68104", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P68104" } ] } ] }, { "uniprot_ac": "P68402", "gene_name": "PAFAH1B2", "activity": [ { "ec_number": "3.1.1.47", "activity": "a 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + acetate + H(+).", "evidence": [ { "id": "P68402", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P68402" } ] }, { "ec_number": "3.1.1.47", "activity": "", "evidence": [ { "id": "P68402", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P68402" } ] } ] }, { "uniprot_ac": "P98066", "gene_name": "TNFAIP6", "activity": [ { "ec_number": "3.1.1.-", "activity": "", "evidence": [ { "id": "P98066", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P98066" } ] } ] }, { "uniprot_ac": "Q01432", "gene_name": "AMPD3", "activity": [ { "ec_number": "3.5.4.6", "activity": "AMP + H(+) + H2O = IMP + NH4(+).", "evidence": [ { "id": "Q01432", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q01432" } ] }, { "ec_number": "3.5.4.6", "activity": "", "evidence": [ { "id": "Q01432", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q01432" } ] } ] }, { "uniprot_ac": "Q07152", "gene_name": "ras", "activity": [ { "ec_number": "1.1.1.205", "activity": "H2O + IMP + NAD(+) = H(+) + NADH + XMP.", "evidence": [ { "id": "Q07152", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q07152" } ] }, { "ec_number": "1.1.1.205", "activity": "", "evidence": [ { "id": "Q07152", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q07152" } ] } ] }, { "uniprot_ac": "Q13162", "gene_name": "PRDX4", "activity": [ { "ec_number": "1.11.1.24", "activity": "[thioredoxin]-dithiol + a hydroperoxide = [thioredoxin]-disulfide + an alcohol + H2O.", "evidence": [ { "id": "Q13162", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13162" } ] }, { "ec_number": "1.11.1.24", "activity": "", "evidence": [ { "id": "Q13162", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13162" } ] } ] }, { "uniprot_ac": "Q13464", "gene_name": "ROCK1", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q13464", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13464" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "Q13464", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13464" } ] } ] }, { "uniprot_ac": "Q13510", "gene_name": "ASAH1", "activity": [ { "ec_number": "3.5.1.23", "activity": "an N-acylsphing-4-enine + H2O = a fatty acid + sphing-4-enine.", "evidence": [ { "id": "Q13510", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13510" } ] }, { "ec_number": "3.5.1.23", "activity": "", "evidence": [ { "id": "Q13510", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13510" } ] }, { "ec_number": "3.5.1.-", "activity": "", "evidence": [ { "id": "Q13510", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13510" } ] } ] }, { "uniprot_ac": "Q14004", "gene_name": "CDK13", "activity": [ { "ec_number": "2.7.11.22", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q14004", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14004" } ] }, { "ec_number": "2.7.11.23", "activity": "[DNA-directed RNA polymerase] + ATP = ADP + H(+) + phospho-[DNA-directed RNA polymerase].", "evidence": [ { "id": "Q14004", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14004" } ] }, { "ec_number": "2.7.11.22", "activity": "", "evidence": [ { "id": "Q14004", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14004" } ] }, { "ec_number": "2.7.11.23", "activity": "", "evidence": [ { "id": "Q14004", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14004" } ] } ] }, { "uniprot_ac": "Q16539", "gene_name": "MAPK14", "activity": [ { "ec_number": "2.7.11.24", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q16539", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16539" } ] }, { "ec_number": "2.7.11.24", "activity": "", "evidence": [ { "id": "Q16539", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16539" } ] } ] }, { "uniprot_ac": "Q16769", "gene_name": "QPCT", "activity": [ { "ec_number": "2.3.2.5", "activity": "N-terminal L-glutaminyl-[peptide] = N-terminal 5-oxo-L-prolyl-[peptide] + NH4(+).", "evidence": [ { "id": "Q16769", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16769" } ] }, { "ec_number": "2.3.2.5", "activity": "", "evidence": [ { "id": "Q16769", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16769" } ] } ] }, { "uniprot_ac": "Q54QQ0", "gene_name": "impdh", "activity": [ { "ec_number": "1.1.1.205", "activity": "H2O + IMP + NAD(+) = H(+) + NADH + XMP.", "evidence": [ { "id": "Q54QQ0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54QQ0" } ] }, { "ec_number": "1.1.1.205", "activity": "", "evidence": [ { "id": "Q54QQ0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54QQ0" } ] } ] }, { "uniprot_ac": "Q7Z6Z7", "gene_name": "HUWE1", "activity": [ { "ec_number": "2.3.2.26", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q7Z6Z7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7Z6Z7" } ] }, { "ec_number": "2.3.2.26", "activity": "", "evidence": [ { "id": "Q7Z6Z7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7Z6Z7" } ] } ] }, { "uniprot_ac": "Q8WVQ1", "gene_name": "CANT1", "activity": [ { "ec_number": "3.6.1.6", "activity": "ADP + H2O = AMP + H(+) + phosphate.", "evidence": [ { "id": "Q8WVQ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8WVQ1" } ] }, { "ec_number": "3.6.1.6", "activity": "", "evidence": [ { "id": "Q8WVQ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8WVQ1" } ] } ] }, { "uniprot_ac": "Q96G03", "gene_name": "PGM2", "activity": [ { "ec_number": "5.4.2.2", "activity": "alpha-D-glucose 1-phosphate = alpha-D-glucose 6-phosphate.", "evidence": [ { "id": "Q96G03", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96G03" } ] }, { "ec_number": "5.4.2.7", "activity": "2-deoxy-alpha-D-ribose 1-phosphate = 2-deoxy-D-ribose 5-phosphate.", "evidence": [ { "id": "Q96G03", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96G03" } ] }, { "ec_number": "5.4.2.7", "activity": "", "evidence": [ { "id": "Q96G03", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96G03" } ] } ] }, { "uniprot_ac": "Q99436", "gene_name": "PSMB7", "activity": [ { "ec_number": "3.4.25.1", "activity": "Cleavage of peptide bonds with very broad specificity.", "evidence": [ { "id": "Q99436", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99436" } ] }, { "ec_number": "3.4.25.1", "activity": "", "evidence": [ { "id": "Q99436", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99436" } ] } ] }, { "uniprot_ac": "Q9P0J7", "gene_name": "KCMF1", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q9P0J7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9P0J7" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q9P0J7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9P0J7" } ] } ] }, { "uniprot_ac": "Q9UBR2", "gene_name": "CTSZ", "activity": [ { "ec_number": "3.4.18.1", "activity": "Release of C-terminal amino acid residues with broad specificity, but lacks action on C-terminal proline. Shows weak endopeptidase activity.", "evidence": [ { "id": "Q9UBR2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UBR2" } ] }, { "ec_number": "3.4.18.1", "activity": "", "evidence": [ { "id": "Q9UBR2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UBR2" } ] } ] }, { "uniprot_ac": "Q9UNP9", "gene_name": "PPIE", "activity": [ { "ec_number": "5.2.1.8", "activity": "[protein]-peptidylproline (omega=180) = [protein]-peptidylproline (omega=0).", "evidence": [ { "id": "Q9UNP9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UNP9" } ] }, { "ec_number": "5.2.1.8", "activity": "", "evidence": [ { "id": "Q9UNP9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UNP9" } ] } ] }, { "uniprot_ac": "Q9Y315", "gene_name": "DERA", "activity": [ { "ec_number": "4.1.2.4", "activity": "2-deoxy-D-ribose 5-phosphate = acetaldehyde + D-glyceraldehyde 3-phosphate.", "evidence": [ { "id": "Q9Y315", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y315" } ] }, { "ec_number": "4.1.2.4", "activity": "", "evidence": [ { "id": "Q9Y315", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y315" } ] } ] } ], "biomarkers": [ { "assessed_biomarker_entity": "Inosine 5'-monophosphate dehydrogenase type II (IMPDH2)", "biomarker_id": "A0283", "evidence": [ { "id": "GLY_000625", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000625" }, { "id": "32305001", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32305001" } ], "instances": [ { "best_biomarker_type": "prognostic", "status": "increased IMPDH2 level", "disease": { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. 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