{ "uniprot_canonical_ac": "O43175-1", "uniprot_ac": "O43175", "uniprot_id": "SERA_HUMAN", "mass": { "chemical_mass": 56651.0, "monoisotopic_mass": 56651.0 }, "refseq": { "ac": "NP_006614", "name": "D-3-phosphoglycerate dehydrogenase", "summary": "This gene encodes the enzyme which is involved in the early steps of L-serine synthesis in animal cells. L-serine is required for D-serine and other amino acid synthesis. The enzyme requires NAD/NADH as a cofactor and forms homotetramers for activity. Mutations in this gene have been found in a family with congenital microcephaly, psychomotor retardation and other symptoms. Multiple alternatively spliced transcript variants have been found, however the full-length nature of most are not known. [provided by RefSeq, Aug 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006614" }, "gene_names": [ { "name": "PHGDH", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43175", "id": "O43175" }, { "name": "3-PGDH; 3PGDH; HEL-S-113; NLS; NLS1; PDG; PGAD; PGD; PGDH; PHGDHD; SERA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006614", "id": "NP_006614" }, { "name": "PGDH3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43175", "id": "O43175" }, { "name": "PHGDH", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006614", "id": "NP_006614" } ], "protein_names": [ { "name": "D-3-phosphoglycerate dehydrogenase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43175" }, { "name": "1.1.1.37", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43175" }, { "name": "1.1.1.399", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43175" }, { "name": "1.1.1.95", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43175" }, { "name": "2-oxoglutarate reductase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43175" }, { "name": "3-PGDH", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43175" }, { "name": "3-phosphoglycerate dehydrogenase; malate dehydrogenase; 2-oxoglutarate reductase; epididymis secretory protein Li 113", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006614", "id": "NP_006614" }, { "name": "D-3-phosphoglycerate dehydrogenase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006614", "id": "NP_006614" }, { "name": "Malate dehydrogenase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43175" } ], "function": [ { "annotation": "Catalyzes the reversible oxidation of 3-phospho-D-glycerate to 3-phosphonooxypyruvate, the first step of the phosphorylated L-serine biosynthesis pathway. Also catalyzes the reversible oxidation of 2-hydroxyglutarate to 2-oxoglutarate and the reversible oxidation of (S)-malate to oxaloacetate.", "evidence": [ { "database": "UniProtKB", "id": "O43175", "url": "https://www.uniprot.org/uniprot/O43175#function" }, { "database": "PubMed", "id": "25406093", "url": "https://glygen.org/publication/PubMed/25406093" }, { "database": "PubMed", "id": "11751922", "url": "https://glygen.org/publication/PubMed/11751922" } ] }, { "annotation": "Comprehensive analysis of PHGDH for predicting prognosis and immunotherapy response in patients with endometrial carcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006614", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006614" }, { "database": "PubMed", "id": "36803157", "url": "https://glygen.org/publication/PubMed/36803157" } ] }, { "annotation": "PHGDH arginine methylation by PRMT1 promotes serine synthesis and represents a therapeutic vulnerability in hepatocellular carcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006614", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006614" }, { "database": "PubMed", "id": "36823188", "url": "https://glygen.org/publication/PubMed/36823188" } ] }, { "annotation": "PHGDH preserves one-carbon cycle to confer metabolic plasticity in chemoresistant gastric cancer during nutrient stress.", "evidence": [ { "database": "RefSeq", "id": "NP_006614", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006614" }, { "database": "PubMed", "id": "37192160", "url": "https://glygen.org/publication/PubMed/37192160" } ] }, { "annotation": "Serine synthesis pathway enzyme PHGDH is critical for muscle cell biomass, anabolic metabolism, and mTORC1 signaling.", "evidence": [ { "database": "RefSeq", "id": "NP_006614", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006614" }, { "database": "PubMed", "id": "37991454", "url": "https://glygen.org/publication/PubMed/37991454" } ] }, { "annotation": "The Role of ESRP1 in the Regulation of PHGDH in Estrogen Receptor-Positive Breast Cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_006614", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006614" }, { "database": "PubMed", "id": "36925195", "url": "https://glygen.org/publication/PubMed/36925195" } ] }, { "annotation": "This gene encodes the enzyme which is involved in the early steps of L-serine synthesis in animal cells. L-serine is required for D-serine and other amino acid synthesis. The enzyme requires NAD/NADH as a cofactor and forms homotetramers for activity. Mutations in this gene have been found in a family with congenital microcephaly, psychomotor retardation and other symptoms. Multiple alternatively spliced transcript variants have been found, however the full-length nature of most are not known. [provided by RefSeq, Aug 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_006614", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006614" } ] } ], "disease": [ { "disease_id": "DOID:0050722", "recommended_name": { "id": "DOID:0050722", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050722", "name": "PHGDH deficiency", "description": "A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis." }, "synonyms": [ { "id": "DOID:0050722", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050722", "name": "PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY", "description": "" }, { "id": "MONDO:0011152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011152", "name": "PHGDH deficiency", "description": "3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form" }, { "id": "MONDO:0011152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011152", "name": "PHGDH deficiency", "description": "" }, { "id": "MONDO:0011152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011152", "name": "PHOSPHOGLYCERATE dehydrogenase deficiency", "description": "" }, { "id": "MONDO:0011152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011152", "name": "3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form", "description": "" }, { "id": "MONDO:0011152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011152", "name": "PHGDHD", "description": "" }, { "id": "MIM:601815", "resource": "MIM", "url": "https://www.omim.org/entry/601815", "name": "Phosphoglycerate dehydrogenase deficiency", "description": "Phosphoglycerate dehydrogenase deficiency" } ], "evidence": [ { "id": "601815", "database": "MIM", "url": "https://www.omim.org/entry/601815" } ] }, { "disease_id": "DOID:0080076", "recommended_name": { "id": "DOID:0080076", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080076", "name": "Neu-Laxova syndrome 1", "description": "A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PHGDH gene on chromosome 1p12, causing issues producing the amino acid serine." }, "synonyms": [ { "id": "MONDO:0009736", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009736", "name": "Neu-Laxova syndrome 1", "description": "Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene." }, { "id": "MONDO:0009736", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009736", "name": "3-Phosphoglycerate dehydrogenase deficiency, neonatal form", "description": "" }, { "id": "MONDO:0009736", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009736", "name": "3-phosphoglycerate dehydrogenase deficiency, prenatal form", "description": "" }, { "id": "MONDO:0009736", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009736", "name": "Neu-Laxova syndrome 1", "description": "" }, { "id": "MONDO:0009736", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009736", "name": "Neu-Laxova syndrome caused by mutation in PHGDH", "description": "" }, { "id": "MONDO:0009736", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009736", "name": "Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency", "description": "" }, { "id": "MONDO:0009736", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009736", "name": "Neu-Laxova syndrome type 1", "description": "" }, { "id": "MONDO:0009736", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009736", "name": "PHGDH Neu-Laxova syndrome", "description": "" }, { "id": "MONDO:0009736", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009736", "name": "NLS1", "description": "" }, { "id": "MONDO:0009736", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009736", "name": "Neu-Laxova syndrome", "description": "" }, { "id": "MIM:256520", "resource": "MIM", "url": "https://www.omim.org/entry/256520", "name": "Neu-Laxova syndrome 1", "description": "Neu-Laxova syndrome 1" } ], "evidence": [ { "id": "256520", "database": "MIM", "url": "https://www.omim.org/entry/256520" } ] } ], "snv": [ { "evidence": [ { "id": "rs149631480", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149631480" }, { "id": "rs149631480", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149631480" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 166, "end_pos": 166, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->P).", "chr_id": "1", "chr_pos": "119727088", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S166", "disease": [ { "disease_id": "DOID:0050722", "recommended_name": { "id": "DOID:0050722", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050722", "name": "PHGDH deficiency", "description": "A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis." }, "synonyms": [ { "id": "DOID:0050722", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050722", "name": "PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY", "description": "" }, { "id": "MONDO:0011152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011152", "name": "PHGDH deficiency", "description": "3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form" }, { "id": "MONDO:0011152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011152", "name": "PHGDH deficiency", "description": "" }, { "id": "MONDO:0011152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011152", "name": "PHOSPHOGLYCERATE dehydrogenase deficiency", "description": "" }, { "id": "MONDO:0011152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011152", "name": "3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form", "description": "" }, { "id": "MONDO:0011152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011152", "name": "PHGDHD", "description": "" }, { "id": "MIM:601815", "resource": "MIM", "url": "https://www.omim.org/entry/601815", "name": "Phosphoglycerate dehydrogenase deficiency", "description": "Phosphoglycerate dehydrogenase deficiency" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs763170065", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763170065" }, { "id": "rs763170065", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763170065" }, { "id": "rs763170065", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763170065" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 219, "end_pos": 219, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DNT->NNT).", "chr_id": "1", "chr_pos": "119735372", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D219", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs980451763", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs980451763" }, { "id": "rs980451763", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs980451763" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 222, "end_pos": 222, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTF->NTS).", "chr_id": "1", "chr_pos": "119735316", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F222", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1032197642", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1032197642" }, { "id": "rs1032197642", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1032197642#frequency_tab" }, { "id": "rs1309125684", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1309125684" }, { "id": "rs1309125684", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1309125684" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 235, "end_pos": 235, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NCA->NCT).", "chr_id": "1", "chr_pos": "119743886", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A235", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1571017331", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1571017331" }, { "id": "rs1571017331", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1571017331" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 322, "end_pos": 322, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->P).", "chr_id": "1", "chr_pos": "119740404", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T322", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1323192065", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1323192065" }, { "id": "rs1323192065", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1323192065" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 323, "end_pos": 323, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->G).", "chr_id": "1", "chr_pos": "119740407", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S323", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1329562126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1329562126" }, { "id": "rs1329562126", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1329562126" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 323, "end_pos": 323, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->N).", "chr_id": "1", "chr_pos": "119740408", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S323", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs865855265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs865855265" }, { "id": "rs865855265", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs865855265#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 67, "end_pos": 67, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAA->NAT).", "chr_id": "1", "chr_pos": "119721230", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A67", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "86.15", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000092621", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000092621" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "80.63", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000092621", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000092621" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "85.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000092621", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000092621" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "79", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000092621", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000092621" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "90.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000092621", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000092621" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "82.04", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000092621", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000092621" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "72.5", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000092621", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000092621" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "87.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000092621", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000092621" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "85.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000092621", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000092621" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "63.62", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000092621", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000092621" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "92.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000092621", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000092621" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "95.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000092621", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000092621" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "88.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000092621", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000092621" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43175", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43175" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the 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"MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", 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"BioXpress", "id": "O43175", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43175" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43175" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant 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"UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2C9F2M7-1", "url": "https://www.uniprot.org/uniprot/A0A2C9F2M7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43175", "url": "https://www.uniprot.org/uniprot/O43175", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43175-1", "url": "https://www.uniprot.org/uniprot/O43175-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAFANLRKVLISDSLDPCCRKILQDGGLQVVEKQNLSKEELIAELQDCEGLIVRSATKVTADVINAAEKLQVVGRAGTGVDNVDLEAATRKGILVMNTPNGNSLSAAELTCGMIMCLARQIPQATASMKDGKWERKKFMGTELNGKTLGILGLGRIGREVATRMQSFGMKTIGYDPIISPEVSASFGVQQLPLEEIWPLCDFITVHTPLLPSTTGLLNDNTFAQCKKGVRVVNCARGGIVDEGALLRALQSGQCAGAALDVFTEEPPRDRALVDHENVISCPHLGASTKEAQSRCGEEIAVQFVDMVKGKSLTGVVNAQALTSAFSPHTKPWIGLAEALGTLMRAWAGSPKGTIQVITQGTSLKNAGNCLSPAVIVGLLKEASKQADVNLVNAKLLVKEAGLNVTTSHSPAAPGEQGFGECLLAVALAGAPYQAVGLVQGTTPVLQGLNGAVFRPEVPLRRDLPLLLFRTQTSDPAMLPTMIGLLAEAGVRLLSYQTSLVSDGETWHVMGISSLLPSLEAWKQHVTEAFQFHF", "length": 533, "header": "sp|O43175-1|SERA_HUMAN Isoform 1 of D-3-phosphoglycerate dehydrogenase OS=Homo sapiens OX=9606 GN=PHGDH PE=1 SV=4 CANONICAL=O43175-1" }, "isoforms": [ { "isoform_ac": "A0A286YER3-1", "url": "", "sequence": { "sequence": "MAFANLRKVLISDSLDPCCRKILQDGGLQVVEKQNLSKEELIAELQDCEGLIVRSATKVTADVINAAEKLQVVGRAGTGVDNVDLEAATRKGILVMK", "length": 97, "header": "tr|A0A286YER3-1|SERA_HUMAN Computationally mapped isoform of D-3-phosphoglycerate dehydrogenase OS=Homo sapiens OX=9606 GN=PHGDH PE=1 SV=1 CANONICAL=O43175-1" }, "locus": { "chromosome": "1", "start_pos": 119721322, "end_pos": 119712023, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000641247.1", "url": "https://www.ensembl.org/id/ENST00000641247.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492955.1", "url": "https://www.ensembl.org/id/ENSP00000492955.1" } ] } }, { "isoform_ac": "A0A286YEZ0-1", "url": "", "sequence": { "sequence": "MNTPNGNSLSAAELTCGMIMCLARPETFRDQEITFPMARPAFPPAGGGSGGIYLCSNSSLQFPSELSGIH", "length": 70, "header": "tr|A0A286YEZ0-1|SERA_HUMAN Computationally mapped isoform of D-3-phosphoglycerate dehydrogenase OS=Homo sapiens OX=9606 GN=PHGDH PE=1 SV=1 CANONICAL=O43175-1" }, "locus": { "chromosome": "1", "start_pos": 119724457, "end_pos": 119721317, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000641756.1", "url": "https://www.ensembl.org/id/ENST00000641756.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000493147.1", "url": "https://www.ensembl.org/id/ENSP00000493147.1" } ] } }, { "isoform_ac": "A0A286YF22-1", "url": "", "sequence": { "sequence": "MAFANLRKVLISDSLDPCCRKILQDGGLQVVEKQNLSKEELIAELQDCEGLIVRSATKVTADVINAAEKLQVVGRAGTGVDNVDLEAATRKGILVMNTPNGNSLSAAELTCGMIMCLARQIPQATASMKDGKWERKKFMGTELNGKTLGILGLGRIGREVATRMQSFGMKTIGYDPIISPEVSASFGVQQLPLEEIWPLCDFITVHTPLLPSTTGLLNDNTFAQCKKGVRVVNCARGGIVDEGALLRALQSGQCAGAALDVFTEEPPRDRALVDHENVISCPHLGASTKEAQSRCGEEIAVQFVDMVKGKSLTGVVNAQALTSAFSPHTKPWIGLAEALGTLMRAWAGSPKGTIQVITQGTSLKNAGNCLSPAVIVGLLKEASKQADVNLVNAKLLVTTSHSPAAPGEQGFGECLLAVALAGAPYQAVGLVQGTTPVLQGLNGAVFRPEVPLRRDLPLLLFRTQTSDPAMLPTMIGLLAEAGVRLLSYQTSLVSDGETWHVMGISSLLPSLEAWKQHVTEAFQFHF", "length": 526, "header": "tr|A0A286YF22-1|SERA_HUMAN Computationally mapped isoform of D-3-phosphoglycerate dehydrogenase OS=Homo sapiens OX=9606 GN=PHGDH PE=1 SV=1 CANONICAL=O43175-1" }, "locus": { "chromosome": "1", "start_pos": 119744037, "end_pos": 119712023, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000641947.1", "url": "https://www.ensembl.org/id/ENST00000641947.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492994.1", "url": "https://www.ensembl.org/id/ENSP00000492994.1" } ] } }, { "isoform_ac": "A0A286YF34-1", "url": "", "sequence": { "sequence": "MAFANLRKVLISDSLDPCCRKILQDGGLQVVEKQNLSKEELIAELQDCEGLIVRSATKVTADVINAAEKLQV", "length": 72, "header": "tr|A0A286YF34-1|SERA_HUMAN Computationally mapped isoform of D-3-phosphoglycerate dehydrogenase OS=Homo sapiens OX=9606 GN=PHGDH PE=1 SV=1 CANONICAL=O43175-1" }, "locus": { "chromosome": "1", "start_pos": 119721247, "end_pos": 119712023, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000641720.1", "url": "https://www.ensembl.org/id/ENST00000641720.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492948.1", "url": "https://www.ensembl.org/id/ENSP00000492948.1" } ] } }, { "isoform_ac": "A0A286YF78-1", "url": "", "sequence": { "sequence": "XVDLEAATRKGILVMNTPNGNSLSAAELTCGMIMCLARQIPQATASMKDGKWERKKFMGTELNGKTLGILGLGRIGREVATRMQSFGMKTIGYDPIISPEVSASFGVQQLPLEEIWPLCDFITVHTPLLPSTTGLLNDNTFAQCKKGVRVVNCARGGIVDEGALLRALQSGQCAGAALDVFTEEPPRDRALVDHENVISCPHLGASTKEAQSRCGEEIAVQFVDMVKGKSLTGVASWQRQACGCCPTRLHWCQMGRPGTSWASPPCCPAWKRGSSM", "length": 276, "header": "tr|A0A286YF78-1|SERA_HUMAN Computationally mapped isoform of D-3-phosphoglycerate dehydrogenase OS=Homo sapiens OX=9606 GN=PHGDH PE=1 SV=1 CANONICAL=O43175-1" }, "locus": { "chromosome": "1", "start_pos": 119744012, "end_pos": 119721276, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000641811.1", "url": "https://www.ensembl.org/id/ENST00000641811.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000493296.1", "url": "https://www.ensembl.org/id/ENSP00000493296.1" } ] } }, { "isoform_ac": "A0A286YFA2-1", "url": "", "sequence": { "sequence": "MAFANLRKVLISDSLDPCCRKILQDGGLQVVEKQNLSKEELIAELQDCEGLIVRSATKVTADVINAAEKLQVVGRAGTGVDNVDLEAATRKGILVMNTPNGNSLSAAELTCGMIMCLARQIPQATASMKDGKWERKKFMGTELNGKTLGILGLGRIGREVATRMQSFGMKTIGYDPIISPEVSASFGVQQLPLEEIWPLCDFITVHTPLLPSTTGLLNDNTFAQCKKGVRVVNCARGGIVDEGALLRALQSGQCAGAALDVFTEEPPRDRALVDHENVISCPHLGASTKEAQSRCGEEIAVQFVDMVKGKSLTGVVTTSHSPAAPGEQGFGECLLAVALAGAPYQAVGLVQGTTPVLQGLNGAVFRPEVPLRRDLPLLLFRTQTSDPAMLPTMIGLLAEAGVRLLSYQTSLVSDGETWHVMGISSLLPSLEAWKQHVTEAFQFHF", "length": 445, "header": "tr|A0A286YFA2-1|SERA_HUMAN Computationally mapped isoform of D-3-phosphoglycerate dehydrogenase OS=Homo sapiens OX=9606 GN=PHGDH PE=1 SV=1 CANONICAL=O43175-1" }, "locus": { "chromosome": "1", "start_pos": 119744037, "end_pos": 119712023, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000641115.1", "url": "https://www.ensembl.org/id/ENST00000641115.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000493264.1", "url": "https://www.ensembl.org/id/ENSP00000493264.1" } ] } }, { "isoform_ac": "A0A286YFB2-1", "url": "", "sequence": { "sequence": "MAFANLRKVLISDSLDPCCRKILQDGGLQVVEKQNLSKEELIAELQDCEGLIVRSATKVTADVINAAEKLQVVGRAGTGVDNVDLEAATRKGILVMNTPNGNSLSAAELTCGMIMCLARPETFRDQEITFPMARPAFPPAGGGSGGIYLCSNSSLQFPSELSGIH", "length": 165, "header": "tr|A0A286YFB2-1|SERA_HUMAN Computationally mapped isoform of D-3-phosphoglycerate dehydrogenase OS=Homo sapiens OX=9606 GN=PHGDH PE=1 SV=1 CANONICAL=O43175-1" }, "locus": { "chromosome": "1", "start_pos": 119724457, "end_pos": 119712023, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000641213.1", "url": "https://www.ensembl.org/id/ENST00000641213.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000493079.1", "url": "https://www.ensembl.org/id/ENSP00000493079.1" } ] } }, { "isoform_ac": "A0A286YFC8-1", "url": "", "sequence": { "sequence": "MAFANLRKVLISDSLDPCCRKILQDGGLQVVEKQNLSKEELIAELQDCEGLIVRSATKVTADVINAAEKLQVVGRAGTGVDNVDLEAATRKGILVMNTPNGNSLSAAELTCGMIMCLARTSFV", "length": 123, "header": "tr|A0A286YFC8-1|SERA_HUMAN Computationally mapped isoform of D-3-phosphoglycerate dehydrogenase OS=Homo sapiens OX=9606 GN=PHGDH PE=1 SV=1 CANONICAL=O43175-1" }, "locus": { "chromosome": "1", "start_pos": 119724797, "end_pos": 119712023, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000641570.1", "url": "https://www.ensembl.org/id/ENST00000641570.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000493213.1", "url": "https://www.ensembl.org/id/ENSP00000493213.1" } ] } }, { "isoform_ac": "A0A286YFE1-1", "url": "", "sequence": { "sequence": "MNTPNGNSLSAAELTCGMIMCLARQIPQATASMKDGKWERKKFMGTELNGKTLGILGLGRIGREVATRMQSFGMKTIGYDPIISPEVSA", "length": 89, "header": "tr|A0A286YFE1-1|SERA_HUMAN Computationally mapped isoform of D-3-phosphoglycerate dehydrogenase OS=Homo sapiens OX=9606 GN=PHGDH PE=1 SV=1 CANONICAL=O43175-1" }, "locus": { "chromosome": "1", "start_pos": 119734675, "end_pos": 119721317, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000493622.5", "url": "https://www.ensembl.org/id/ENST00000493622.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000493433.1", "url": "https://www.ensembl.org/id/ENSP00000493433.1" } ] } }, { "isoform_ac": "A0A286YFF3-1", "url": "", "sequence": { "sequence": "MAFANLRKVLISDSLDPCCRKILQDGGLQVVEKQNLSKEELIAELQVWTMWIWRPQQGRASWL", "length": 63, "header": "tr|A0A286YFF3-1|SERA_HUMAN Computationally mapped isoform of D-3-phosphoglycerate dehydrogenase OS=Homo sapiens OX=9606 GN=PHGDH PE=1 SV=1 CANONICAL=O43175-1" }, "locus": { "chromosome": "1", "start_pos": 119721317, "end_pos": 119712023, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000641587.1", "url": "https://www.ensembl.org/id/ENST00000641587.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000493453.1", "url": "https://www.ensembl.org/id/ENSP00000493453.1" } ] } }, { "isoform_ac": "A0A286YFK5-1", "url": "", "sequence": { "sequence": "MAFANLRKVLISDSLDPCCRKILQDGGLQVVEKQNLSKEELIAELQGWHRCGQCGSGGRNKEGHLGYEHPQWEQPQCRRTHLWNDHVPGQADSPGDGFDEGRQMGAEEVHGNRAEWKDPGNSWPGQDWERGSYPDAVLWDEDYRV", "length": 145, "header": "tr|A0A286YFK5-1|SERA_HUMAN Computationally mapped isoform of D-3-phosphoglycerate dehydrogenase OS=Homo sapiens OX=9606 GN=PHGDH PE=1 SV=1 CANONICAL=O43175-1" }, "locus": { "chromosome": "1", "start_pos": 119734644, "end_pos": 119712023, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000641371.1", "url": "https://www.ensembl.org/id/ENST00000641371.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000493305.1", "url": "https://www.ensembl.org/id/ENSP00000493305.1" } ] } }, { "isoform_ac": "A0A286YFL2-1", "url": "", "sequence": { "sequence": "MAFANLRKVLISDSLDPCCRKILQDGGLQVVEKQNLSKEELIAELQDCEGLIVRSATKVTADVINAAEKLQVVGRAGTGVDNVDLEAATRKGILVMNTPNGNSLSAAELTCGMIMCLARQIPQATASMKDGKWERKKFMGTELNGKTLGILGLGRIGREVATRMQSFGMKTIGYDPIISPEVSASFGVQQLPLEEIWPLCDFITVHTPLLPSTTGLLNDNTFAQCKKGVRVVNCARGGIVDEGALLRALQSGQCAGAALDVFTEEPPRDRALVDHENVISCPHLGASTKEAQSRCGEEIAVQFVDMVKGKSLTGVVNAQALTSAFSPHTKPWIGLAEALGTLMRAWAGSPKGTIQVITQGHHLPQPCCTRGARLRGMPPGRGPGRRPLPGCGLGPRHYACTAGAQWSCLQARSASPQGPAPAPIPDSDL", "length": 429, "header": "tr|A0A286YFL2-1|SERA_HUMAN Computationally mapped isoform of D-3-phosphoglycerate dehydrogenase OS=Homo sapiens OX=9606 GN=PHGDH PE=1 SV=1 CANONICAL=O43175-1" }, "locus": { "chromosome": "1", "start_pos": 119743015, "end_pos": 119712023, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000641074.1", "url": "https://www.ensembl.org/id/ENST00000641074.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000493446.1", "url": "https://www.ensembl.org/id/ENSP00000493446.1" } ] } }, { "isoform_ac": "A0A286YFM8-1", "url": "", "sequence": { "sequence": "MAFANLRKVLISDSLDPCCRKILQDGGLQVVEKQNLSKEELIAELQDCEGLIVRSATKVTADVINAAEKLQVVGRAGTGVDNVDLEAATRKGILVMKQIPQATASMKDGKWERKKFMGTELNGKTLGILGLGRIGREVATRMQSFGMKTIGYDPIISPEVSASFGVQQLPLEEIWPLCDFITVHTPLLPSTTGLLNDNTFAQCKKGVRVVNCARGGIVDEGALLRALQSGQCAGAALDV", "length": 239, "header": "tr|A0A286YFM8-1|A0A286YFM8_HUMAN Computationally mapped isoform of Phosphoglycerate dehydrogenase OS=Homo sapiens OX=9606 GN=PHGDH PE=1 SV=1 CANONICAL=O43175-1" }, "locus": { "chromosome": "1", "start_pos": 119735434, "end_pos": 119712023, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000641272.1", "url": "https://www.ensembl.org/id/ENST00000641272.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000493432.1", "url": "https://www.ensembl.org/id/ENSP00000493432.1" } ] } }, { "isoform_ac": "A0A2C9F2M7-1", "url": "", "sequence": { "sequence": "MAFANLRKVLISDSLDPCCRKILQDGGLQVVEKQNLSKEELIAELQDCEGLIVRSATKVTADVINAAEKLQVVGRAGTGVDNVDLEAATRKGILVMNTPNGNSLSAAELTCGMIMCLARQIPQATASMKDGKWERKKFMGTELNGKTLGILGLGRIGREVATRMQSFGMKTIGYDPIISPEVSASFGVQQLPLEEIWPLCDFITVHTPLLPSTTGLLNDNTFAQCKKGVRVVNCARGGIVDEGALLRALQSGQCAGAALDVFTEEPPRDRALVDHENVISCPHLGASTKEAQSRCGEEIAVQFVDMVKGKSLTGVVNAQALTSAFSPHTKPWIGLAEALGTLMRAWAGSPKGTIQVITQGTSLKNAGNCLSPAVIVGLLKEASKQADVNLVNAKLLVKEAGLNVTTSHSPAAPGEQGFGECLLAVALAGAPYQAVGLVQGTTPVLQGLNGAVFRPEVPLRRDLPLLLFRTQTSDPAMLPTMIGVSSISRPPGRGRRAAAVLPDFTGVRWGDLARHGHLLLAAQPGSVEAACD", "length": 532, "header": "tr|A0A2C9F2M7-1|SERA_HUMAN Computationally mapped isoform of D-3-phosphoglycerate dehydrogenase OS=Homo sapiens OX=9606 GN=PHGDH PE=1 SV=1 CANONICAL=O43175-1" }, "locus": { "chromosome": "1", "start_pos": 119744015, "end_pos": 119712023, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000369409.9", "url": "https://www.ensembl.org/id/ENST00000369409.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000358417.5", "url": "https://www.ensembl.org/id/ENSP00000358417.5" } ] } }, { "isoform_ac": "O43175-1", "url": "", "sequence": { "sequence": "MAFANLRKVLISDSLDPCCRKILQDGGLQVVEKQNLSKEELIAELQDCEGLIVRSATKVTADVINAAEKLQVVGRAGTGVDNVDLEAATRKGILVMNTPNGNSLSAAELTCGMIMCLARQIPQATASMKDGKWERKKFMGTELNGKTLGILGLGRIGREVATRMQSFGMKTIGYDPIISPEVSASFGVQQLPLEEIWPLCDFITVHTPLLPSTTGLLNDNTFAQCKKGVRVVNCARGGIVDEGALLRALQSGQCAGAALDVFTEEPPRDRALVDHENVISCPHLGASTKEAQSRCGEEIAVQFVDMVKGKSLTGVVNAQALTSAFSPHTKPWIGLAEALGTLMRAWAGSPKGTIQVITQGTSLKNAGNCLSPAVIVGLLKEASKQADVNLVNAKLLVKEAGLNVTTSHSPAAPGEQGFGECLLAVALAGAPYQAVGLVQGTTPVLQGLNGAVFRPEVPLRRDLPLLLFRTQTSDPAMLPTMIGLLAEAGVRLLSYQTSLVSDGETWHVMGISSLLPSLEAWKQHVTEAFQFHF", "length": 533, "header": "sp|O43175-1|SERA_HUMAN Isoform 1 of D-3-phosphoglycerate dehydrogenase OS=Homo sapiens OX=9606 GN=PHGDH PE=1 SV=4 CANONICAL=O43175-1" }, "locus": { "chromosome": "1", "start_pos": 119744037, "end_pos": 119712023, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000641023.2", "url": "https://www.ensembl.org/id/ENST00000641023.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000493175.1", "url": "https://www.ensembl.org/id/ENSP00000493175.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 166, "start_aa": "Ser", "end_pos": 166, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser166", "evidence": [ { "id": "O43175", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43175" }, { "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": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "O43175", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O43175" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 288, "start_aa": "Thr", "end_pos": 288, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr288", "evidence": [ { "id": "O43175", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43175" }, { "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": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "33465208", "database": 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] }, { "title": "Human serine racemase: moleular cloning, genomic organization and functional analysis.", "journal": "Gene", "date": "2000", "authors": "De Miranda J, Santoro A, Engelender S, Wolosker H", "evidence": [ { "database": "Reactome", "id": "R-HSA-977347", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977347" } ], "reference": [ { "type": "PubMed", "id": "11054547", "url": "https://glygen.org/publication/PubMed/11054547" } ] }, { "title": "Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.", "journal": "American journal of human genetics", "date": "2000", "authors": "Klomp LW, de Koning TJ, Malingre HE, van Beurden EA, Brink M, Opdam FL, Duran M, Jaeken J, Pineda M, Van Maldergem L, Poll-The BT, van den Berg IE, Berger R", "evidence": [ { "database": "UniProtKB", "id": "O43175", "url": "https://www.uniprot.org/uniprot/O43175" } ], "reference": [ { "type": "PubMed", "id": "11055895", "url": "https://glygen.org/publication/PubMed/11055895" } ] }, { "title": "V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Pind S, Slominski E, Mauthe J, Pearlman K, Swoboda KJ, Wilkins JA, Sauder P, Natowicz MR", "evidence": [ { "database": "UniProtKB", "id": "O43175", "url": "https://www.uniprot.org/uniprot/O43175" } ], "reference": [ { "type": "PubMed", "id": "11751922", "url": "https://glygen.org/publication/PubMed/11751922" } ] }, { "title": "Cofactors of serine racemase that physiologically stimulate the synthesis of the N-methyl-D-aspartate (NMDA) receptor coagonist D-serine.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "De Miranda J, Panizzutti R, Foltyn VN, Wolosker H", "evidence": [ { "database": "Reactome", "id": 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"https://www.uniprot.org/uniprot/O43175" } ], "reference": [ { "type": "PubMed", "id": "14654843", "url": "https://glygen.org/publication/PubMed/14654843" } ] }, { "title": "Characterization and localization of a human serine racemase.", "journal": "Brain research. Molecular brain research", "date": "2004", "authors": "Xia M, Liu Y, Figueroa DJ, Chiu CS, Wei N, Lawlor AM, Lu P, Sur C, Koblan KS, Connolly TM", "evidence": [ { "database": "Reactome", "id": "R-HSA-977347", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977347" } ], "reference": [ { "type": "PubMed", "id": "15193426", "url": "https://glygen.org/publication/PubMed/15193426" } ] }, { "title": "Serine racemase modulates intracellular D-serine levels through an alpha,beta-elimination activity.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Foltyn VN, Bendikov I, De Miranda J, Panizzutti R, Dumin E, Shleper M, Li P, Toney MD, Kartvelishvily E, Wolosker H", "evidence": [ { "database": "Reactome", "id": "R-HSA-977347", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977347" } ], "reference": [ { "type": "PubMed", "id": "15536068", "url": "https://glygen.org/publication/PubMed/15536068" } ] }, { "title": "Global identification of O-GlcNAc-modified proteins.", "journal": "Analytical chemistry", "date": "2006", "authors": "Nandi A, Sprung R, Barma DK, Zhao Y, Kim SC, Falck JR, Zhao Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43175", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43175" } ], "reference": [ { "type": "PubMed", "id": "16408927", "url": "https://glygen.org/publication/PubMed/16408927" } ] }, { "title": "Identification of novel proteins induced by estradiol, 4-hydroxytamoxifen and acolbifene in T47D breast cancer cells.", "journal": "Steroids", "date": "2006", "authors": "Al-Dhaheri Mariam H, Shah Yatrik M, Basrur Venkatesha, Pind Steven, Rowan Brian G", "evidence": [ { "database": "UniProtKB", "id": "O43175", "url": "https://www.uniprot.org/uniprot/O43175" } ], "reference": [ { "type": "PubMed", "id": "16949628", "url": "https://glygen.org/publication/PubMed/16949628" } ] }, { "title": "Positive regulation of promoter activity of human 3-phosphoglycerate dehydrogenase (PHGDH) gene is mediated by transcription factors Sp1 and NF-Y.", "journal": "Gene", "date": "2008", "authors": "Jun Do Youn, Park Hae Sun, Lee Ji Young, Baek Joo Youn, Park Hwan-Ki, Fukui Kiyoshi, Kim Young Ho", "evidence": [ { "database": "UniProtKB", "id": "O43175", "url": "https://www.uniprot.org/uniprot/O43175" } ], "reference": [ { "type": "PubMed", "id": "18378410", "url": "https://glygen.org/publication/PubMed/18378410" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "O43175", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43175" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O43175", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43175" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.", "journal": "Human mutation", "date": "2009", "authors": "Tabatabaie L, de Koning TJ, Geboers AJ, van den Berg IE, Berger R, Klomp LW", "evidence": [ { "database": "UniProtKB", "id": "O43175", "url": "https://www.uniprot.org/uniprot/O43175" }, { "database": "Reactome", "id": "R-HSA-977347", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977347" } ], "reference": [ { "type": "PubMed", "id": "19235232", "url": "https://glygen.org/publication/PubMed/19235232" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O43175", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43175" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "O43175", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43175" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] }, { "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": "O43175", "url": "https://www.uniprot.org/uniprot/O43175" }, { "database": "iPTMnet", "id": "O43175", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43175" } ], "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": "O43175", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43175" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O43175", "url": "https://www.uniprot.org/uniprot/O43175" }, { "database": "iPTMnet", "id": "O43175", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43175" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.", "journal": "American journal of human genetics", "date": "2014", "authors": "Shaheen R, Rahbeeni Z, Alhashem A, Faqeih E, Zhao Q, Xiong Y, Almoisheer A, Al-Qattan SM, Almadani HA, Al-Onazi N, Al-Baqawi BS, Saleh MA, Alkuraya FS", "evidence": [ { "database": "UniProtKB", "id": "O43175", "url": "https://www.uniprot.org/uniprot/O43175" } ], "reference": [ { "type": "PubMed", "id": "24836451", "url": "https://glygen.org/publication/PubMed/24836451" } ] }, { "title": "Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2014", "authors": "Impens F, Radoshevich L, Cossart P, Ribet D", "evidence": [ { "database": "UniProtKB", "id": "A0A286YF34", "url": "https://www.uniprot.org/uniprot/A0A286YF34" } ], "reference": [ { "type": "PubMed", "id": "25114211", "url": "https://glygen.org/publication/PubMed/25114211" } ] }, { "title": "Human phosphoglycerate dehydrogenase produces the oncometabolite D-2-hydroxyglutarate.", "journal": "ACS chemical biology", "date": "2015-02-20", "authors": "Fan Jing, Teng Xin, Liu Ling, Mattaini Katherine R, Looper Ryan E, Vander Heiden Matthew G, Rabinowitz Joshua D", "evidence": [ { "database": "UniProtKB", "id": "O43175", "url": "https://www.uniprot.org/uniprot/O43175" } ], "reference": [ { "type": "PubMed", "id": "25406093", "url": "https://glygen.org/publication/PubMed/25406093" } ] }, { "title": "SERINC3 and SERINC5 restrict HIV-1 infectivity and are counteracted by Nef.", "journal": "Nature", "date": "2015", "authors": "Usami Y, Wu Y, Gottlinger HG", "evidence": [ { "database": "Reactome", "id": "R-HSA-977347", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977347" } ], "reference": [ { "type": "PubMed", "id": "26416733", "url": "https://glygen.org/publication/PubMed/26416733" } ] }, { "title": "Spotlight on HIV-1 Nef: SERINC3 and SERINC5 Identified as Restriction Factors Antagonized by the Pathogenesis Factor.", "journal": "Viruses", "date": "2015", "authors": "Fackler OT", "evidence": [ { "database": "Reactome", "id": "R-HSA-977347", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977347" } ], "reference": [ { "type": "PubMed", "id": "26703715", "url": "https://glygen.org/publication/PubMed/26703715" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43175", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43175" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43175", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43175" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "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": "O43175", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43175" } ], "reference": [ { "type": "PubMed", "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "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": "O43175", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43175" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "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": "O43175", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43175" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "A new tandem enrichment strategy for the simultaneous profiling of O-GlcNAcylation and phosphorylation in RNA-binding proteome.", "journal": "The Analyst", "date": "2021", "authors": "Fan Z, Li J, Liu T, Zhang Z, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43175", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43175" }, { "database": "O-GlcNAc Atlas", "id": "O43175", "url": "https://oglcnac.org/atlas/detail/O43175" } ], "reference": [ { "type": "PubMed", "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208" } ] }, { "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": "O43175", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43175" } ], "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": "O43175", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43175" } ], "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": "O43175", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43175" } ], "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": "O43175", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43175" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "title": "Comprehensive analysis of PHGDH for predicting prognosis and immunotherapy response in patients with endometrial carcinoma.", "journal": "BMC medical genomics", "date": "2023-02-20", "authors": "Zhang He, Kong Weimin, Zhao Xiaoling, Xie Yunkai, Luo Dan, Chen Shuning", "evidence": [ { "database": "RefSeq", "id": "NP_006614", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006614" } ], "reference": [ { "type": "PubMed", "id": "36803157", "url": "https://glygen.org/publication/PubMed/36803157" } ] }, { "title": "PHGDH arginine methylation by PRMT1 promotes serine synthesis and represents a therapeutic vulnerability in hepatocellular carcinoma.", "journal": "Nature communications", "date": "2023-02-23", "authors": "Wang Kui, Luo Li, Fu Shuyue, Wang Mao, Wang Zihao, Dong Lixia, Wu Xingyun, Dai Lunzhi, Peng Yong, Shen Guobo, Chen Hai-Ning, Nice Edouard Collins, Wei Xiawei, Huang Canhua", "evidence": [ { "database": "RefSeq", "id": "NP_006614", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006614" } ], "reference": [ { "type": "PubMed", "id": "36823188", "url": "https://glygen.org/publication/PubMed/36823188" } ] }, { "title": "The Role of ESRP1 in the Regulation of PHGDH in Estrogen Receptor-Positive Breast Cancer.", "journal": "Laboratory investigation; a journal of technical methods and pathology", "date": "2023-03", "authors": "G\u00f6kmen-Polar Yesim, Gu Yuan, Polar Alper, Gu Xiaoping, Badve Sunil S", "evidence": [ { "database": "RefSeq", "id": "NP_006614", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006614" } ], "reference": [ { "type": "PubMed", "id": "36925195", "url": "https://glygen.org/publication/PubMed/36925195" } ] }, { "title": "PHGDH preserves one-carbon cycle to confer metabolic plasticity in chemoresistant gastric cancer during nutrient stress.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2023-05-23", "authors": "Yoon Bo Kyung, Kim Hyeonhui, Oh Tae Gyu, Oh Se Kyu, Jo Sugyeong, Kim Minki, Chun Kyu-Hye, Hwang Nahee, Lee Suji, Jin Suyon, Atkins Annette R, Yu Ruth T, Downes Michael, Kim Jae-Woo, Kim Hyunkyung, Evans Ronald M, Cheong Jae-Ho, Fang Sungsoon", "evidence": [ { "database": "RefSeq", "id": "NP_006614", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006614" } ], "reference": [ { "type": "PubMed", "id": "37192160", "url": "https://glygen.org/publication/PubMed/37192160" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43175", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43175" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Serine synthesis pathway enzyme PHGDH is critical for muscle cell biomass, anabolic metabolism, and mTORC1 signaling.", "journal": "American journal of physiology. Endocrinology and metabolism", "date": "2024-01-01", "authors": "M\u00e4ntyselk\u00e4 Sakari, Kolari Kalle, Baumert Philipp, Yl\u00e4-Outinen Laura, Kuikka Lauri, Lahtonen Suvi, Permi Perttu, Wackerhage Henning, Kalenius Elina, Kivel\u00e4 Riikka, Hulmi Juha J", "evidence": [ { "database": "RefSeq", "id": "NP_006614", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006614" } ], "reference": [ { "type": "PubMed", "id": "37991454", "url": "https://glygen.org/publication/PubMed/37991454" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43175", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43175" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Human L-3-phosphoserine phosphatase: sequence, expression and evidence for a phosphoenzyme intermediate.", "journal": "FEBS letters", "date": "1997", "authors": "Collet JF, Gerin I, Rider MH, Veiga-da-Cunha M, Van Schaftingen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-977347", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977347" } ], "reference": [ { "type": "PubMed", "id": "9188776", "url": "https://glygen.org/publication/PubMed/9188776" } ] } ], "pathway": [ { "id": "hsa:26227", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:26227", "resource": "KEGG Pathway" }, { "id": "R-HSA-977347", "name": "Serine biosynthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977347", "resource": "Reactome", "description": "Serine biosynthesis" } ], "orthologs": [ { "uniprot_canonical_ac": "A5GFY8-1", "protein_name": "D-3-phosphoglycerate dehydrogenase", "gene_name": "PHGDH", "tax_id": 9823, "organism": "Sus scrofa", "sequence": { "sequence": "MAFANLRKVLISDSLDPCCREILQDGGLQVVEKQNLSKEELIAELQDCEGLIVRSATKVTSDVINAAKKLQVVGRAGTGVDNVDLEAATRKGILVMNTPNGNSLSAAELTCGMILCLARQIPQATASMKDGKWERKKFMGTELNGKVLGILGLGRIGREVATRMQSFGMKTIGYDPIIAPEVSASFGVQQLPLEEIWPLCDFITVHTPLLPSTTGLLNDSTFALCKKGVRVVNCARGGIVDEGALLRALQSGQCAGAALDVFTEEPPRDRALVDHEKVISCPHLGASTREAQSRCGEEIAIQFVDMVKGRSLAGVVNAQALTSAFSPHTKPWIGLAEALGALMQAWAGSPKGTIQVVTQGTSLKNSGTCLSPAVIVGLLKEASHRADVNLVNAKLLEKEAGLHVTTSHNPAAPEEQGGAECFLTVALAGAPYQAVGLVQGTAPMLHALNGAVFRPEVPLRRGLPLLLFRAQPSNPTMLPTMIGLLAEARVQLLSYQTSVVSDGETWHVMAISSLLPSLEPWKQHVTEAFQFHF", "length": 533 }, "evidence": [ { "id": "O43175", "url": "https://omabrowser.org/oma/group/O43175/", "database": "OMA" } ], "common_name": "Pig" }, { "uniprot_canonical_ac": "O08651-1", "protein_name": "D-3-phosphoglycerate dehydrogenase", "gene_name": "Phgdh", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAFANLRKILISDSLDPCCRKILQDGGLQVVEKQNLSKEELIAELQDCEGLIVRSATKVTADVINAAEKLQVVGRAGTGVDNVDLEAATRKGVLVMNTPNGNSLSAAELTCGMLMCLARQIPQATASMKDGKWDRKKFMGTELNGKTLGILGLGRIGREVAARMQAFGMKTVGYDPIISPEVAASFGVQQLPLEEIWPLCDFITVHTPLLPSTTGLLNDSTFAQCKKGVRVVNCARGGIVDEGALLRALQSGQCAGAALDVFTEEPPRDRALVDHENVISCPHLGASTKEAQSRCGEEIAVQFVDMVKGKSLTGVVNAQALTSAFSPHTKPWIGLAEALGTLMHAWAGSPKGTIQVVTQGTSLKNAGTCLSPAVIVGLLREASKQADVNLVNAKLLVKEAGLNVTTSHSPGVPGEQGIGECLLTVALAGAPYQAVGLVQGTTPMLQMLNGAVFRPEVPLRRGQPLLLFRAQPSDPVMLPTMIGLLAEAGVQLLSYQTSKVSDGDTWHVMGLSSLLPSLDAWKQHVSEAFQFCF", "length": 533 }, "evidence": [ { "id": "45924188", "url": "http://www.informatics.jax.org/homology/45924188", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q61753-1", "protein_name": "D-3-phosphoglycerate dehydrogenase", "gene_name": "Phgdh", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAFANLRKVLISDSLDPCCRKILQDGGLQVVEKQNLSKEELIAELQDCEGLIVRSATKVTADVINAAEKLQVVGRAGTGVDNVDLEAATRKGILVMNTPNGNSLSAAELTCGMIMCLARQIPQATASMKDGKWDRKKFMGTELNGKTLGILGLGRIGREVATRMQSFGMKTVGYDPIISPEVAASFGVQQLPLEEIWPLCDFITVHTPLLPSTTGLLNDSTFAQCKKGVRVVNCARGGIVDEGALLRALQSGQCAGAALDVFTEEPPRDRALVDHENVISCPHLGASTKEAQSRCGEEIAVQFVDMVKGKSLTGVVNAQALTSAFSPHTKPWIGLAEAMGTLMHAWAGSPKGTIQVVTQGTSLKNAGTCLSPAVIVGLLREASKQADVNLVNAKLLVKEAGLNVTTSHNPGVPGEQGSGECLLTVALAGAPYQAVGLVQGTTPMLQMLNGAVFRPEVPLRRGQPLLVFRAQPSDPGMLPTMIGLLAEAGVQLLSYQTSMVSDGEPWHVMGLSSLLPSLETWKQHVLEAFQFCF", "length": 533 }, "evidence": [ { "id": "45924188", "url": "http://www.informatics.jax.org/homology/45924188", "database": "MGI" }, { "id": "O43175", "url": "https://omabrowser.org/oma/group/O43175/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "NAD binding", "id": "GO:0051287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051287", "evidence": [ { "database": "UniProtKB", "id": "O43175", "url": "https://www.uniprot.org/uniprot/O43175" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor", "id": "GO:0016616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016616", "evidence": [ { "database": "UniProtKB", "id": "O43175", "url": "https://www.uniprot.org/uniprot/O43175" } ], "pmid": "" }, { "name": "phosphoglycerate dehydrogenase activity", "id": "GO:0004617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004617", "evidence": [ { "database": "UniProtKB", "id": "O43175", "url": "https://www.uniprot.org/uniprot/O43175" } ], "pmid": "" }, { "name": "electron transfer activity", "id": "GO:0009055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009055", "evidence": [ { "database": "UniProtKB", "id": "O43175", "url": "https://www.uniprot.org/uniprot/O43175" } ], "pmid": "" }, { "name": "L-malate dehydrogenase activity", "id": "GO:0030060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030060", "evidence": [ { "database": "UniProtKB", "id": "O43175", "url": "https://www.uniprot.org/uniprot/O43175" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 13, "go_terms": [ { "name": "L-serine biosynthetic process", "id": "GO:0006564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006564", "evidence": [ { "database": "UniProtKB", "id": "O43175", "url": "https://www.uniprot.org/uniprot/O43175" } ], "pmid": "" }, { "name": "glial cell development", "id": "GO:0021782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021782", "evidence": [ { "database": "UniProtKB", "id": "O43175", "url": "https://www.uniprot.org/uniprot/O43175" } ], "pmid": "" }, { "name": "spinal cord development", "id": "GO:0021510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021510", "evidence": [ { "database": "UniProtKB", "id": "O43175", "url": "https://www.uniprot.org/uniprot/O43175" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "O43175", "url": "https://www.uniprot.org/uniprot/O43175" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "O43175", "url": "https://www.uniprot.org/uniprot/O43175" } ], "pmid": "" }, { "name": "neural tube development", "id": "GO:0021915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021915", "evidence": [ { "database": "UniProtKB", "id": "O43175", "url": "https://www.uniprot.org/uniprot/O43175" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "O43175", "url": "https://www.uniprot.org/uniprot/O43175" } ], "pmid": "" }, { "name": "glutamine metabolic process", "id": "GO:0006541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006541", "evidence": [ { "database": "UniProtKB", "id": "O43175", "url": "https://www.uniprot.org/uniprot/O43175" } ], "pmid": "" }, { "name": "gamma-aminobutyric acid metabolic process", "id": "GO:0009448", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009448", "evidence": [ { "database": "UniProtKB", "id": "O43175", "url": "https://www.uniprot.org/uniprot/O43175" } ], "pmid": "" }, { "name": "G1 to G0 transition", "id": "GO:0070314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070314", "evidence": [ { "database": "UniProtKB", "id": "O43175", "url": "https://www.uniprot.org/uniprot/O43175" } ], "pmid": "" }, { "name": "glycine metabolic process", "id": "GO:0006544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006544", "evidence": [ { "database": "UniProtKB", "id": "O43175", "url": "https://www.uniprot.org/uniprot/O43175" } ], "pmid": "" }, { "name": "taurine metabolic process", "id": "GO:0019530", "url": 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35, "end_pos": 37, "annotation": "n_glycosylation_sequon" }, { "start_pos": 403, "end_pos": 405, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "12641", "name": "", "equation": "(2R)-3-phosphoglycerate + NAD(+) = 3-phosphooxypyruvate + H(+) + NADH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O08651-1", "O43175-1", "Q61753-1", "P40054-1", "P40510-1", "Q54UH8-1" ], "evidence": [ { "id": "12641", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/12641" } ] }, { "id": "21432", "name": "", "equation": "(S)-malate + NAD(+) = H(+) + NADH + oxaloacetate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O88989-1", "P04636-1", "P40926-1", "P40925-1", "O43175-1", "P08249-1", "P14152-1", "P22133-1", "P17505-1", "P32419-1", "Q54GE6-1", "Q54VM2-1", "Q54D04-1", "Q9VU28-1", "Q9VEB1-1", "Q9VU29-1", "Q9VKX2-1" ], "evidence": [ { "id": "21432", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/21432" } ] }, { "id": "49612", "name": "", "equation": "(R)-2-hydroxyglutarate + NAD(+) = 2-oxoglutarate + H(+) + NADH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O43175-1", "P40054-1", "P40510-1", "Q54UH8-1" ], "evidence": [ { "id": "49612", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/49612" } ] }, { "id": "R-HSA-977348", "name": "PHGDH tetramer dehydrogenates 3PG", "equation": "", "summary": "Serine biosynthesis starts from 3-phosphoglycerate (3PG), a glycolysis intermediate. Its dehydrogenation to 3-phosphonooxypyruvic acid (3POPA) is catalysed by tetrameric phosphoglycerate dehydrogenase (PHGDH). 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