{ "uniprot_canonical_ac": "P08237-1", "uniprot_ac": "P08237", "uniprot_id": "PFKAM_HUMAN", "mass": { "chemical_mass": 85183.0, "monoisotopic_mass": 85183.0 }, "refseq": { "ac": "NP_000280", "name": "ATP-dependent 6-phosphofructokinase, muscle type isoform 2", "summary": "Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000280" }, "gene_names": [ { "name": "PFKM", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P08237", "id": "P08237" }, { "name": "ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA; PFKX; PPP1R122", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000280", "id": "NP_000280" }, { "name": "PFKM", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000280", "id": "NP_000280" }, { "name": "PFKX", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08237", "id": "P08237" } ], "protein_names": [ { "name": "ATP-dependent 6-phosphofructokinase, muscle type", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P08237" }, { "name": "2.7.1.11", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08237" }, { "name": "6-phosphofructokinase type A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08237" }, { "name": "ATP-PFK", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08237" }, { "name": "ATP-dependent 6-phosphofructokinase, muscle type isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000280", "id": "NP_000280" }, { "name": "PFK-A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08237" }, { "name": "PFK-M", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08237" }, { "name": "Phosphofructo-1-kinase isozyme A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08237" }, { "name": "Phosphohexokinase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08237" }, { "name": "phosphofructokinase, polypeptide X; 6-phosphofructokinase, muscle type; phosphofructo-1-kinase isozyme A; phosphohexokinase; 6-phosphofructo-1-kinase; phosphofructokinase 1; 6-phosphofructokinase type A; ATP-dependent 6-phosphofructokinase, muscle type; phosphofructokinase-M; protein phosphatase 1, regulatory subunit 122", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000280", "id": "NP_000280" } ], "function": [ { "annotation": "Bone marrow mesenchymal stem cell-derived exosomal miR-21a-5p alleviates renal fibrosis by attenuating glycolysis by targeting PFKM. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000280" }, { "database": "PubMed", "id": "36253358", "url": "https://glygen.org/publication/PubMed/36253358" } ] }, { "annotation": "Cancer-associated somatic mutations in human phosphofructokinase-1 reveal a critical electrostatic interaction for allosteric regulation of enzyme activity.", "evidence": [ { "database": "RefSeq", "id": "NP_000280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000280" }, { "database": "PubMed", "id": "37622331", "url": "https://glygen.org/publication/PubMed/37622331" } ] }, { "annotation": "Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis.", "evidence": [ { "database": "UniProtKB", "id": "F8VZI0", "url": "https://www.uniprot.org/uniprot/F8VZI0#function" }, { "database": "UniProtKB", "id": "ARBA00002659", "url": "https://www.uniprot.org/uniprot/ARBA00002659#function" }, { "database": "UniProtKB", "id": "F8VZQ1", "url": "https://www.uniprot.org/uniprot/F8VZQ1#function" }, { "database": "UniProtKB", "id": "P08237", "url": "https://www.uniprot.org/uniprot/P08237#function" }, { "database": "UniProtKB", "id": "F8VUB8", "url": "https://www.uniprot.org/uniprot/F8VUB8#function" }, { "database": "UniProtKB", "id": "F8VTQ3", "url": "https://www.uniprot.org/uniprot/F8VTQ3#function" }, { "database": "UniProtKB", "id": "A0A2R8Y891", "url": "https://www.uniprot.org/uniprot/A0A2R8Y891#function" }, { "database": "UniProtKB", "id": "MF_03184", "url": "https://www.uniprot.org/uniprot/MF_03184#function" }, { "database": "UniProtKB", "id": "F8VYK8", "url": "https://www.uniprot.org/uniprot/F8VYK8#function" }, { "database": "UniProtKB", "id": "F8VVE3", "url": "https://www.uniprot.org/uniprot/F8VVE3#function" }, { "database": "UniProtKB", "id": "F8VP00", "url": "https://www.uniprot.org/uniprot/F8VP00#function" }, { "database": "UniProtKB", "id": "F8VSF7", "url": "https://www.uniprot.org/uniprot/F8VSF7#function" }, { "database": "UniProtKB", "id": "F8VW30", "url": "https://www.uniprot.org/uniprot/F8VW30#function" }, { "database": "UniProtKB", "id": "F8VX13", "url": "https://www.uniprot.org/uniprot/F8VX13#function" } ] }, { "annotation": "Identification of novel PFK-M transcripts in the testis and embryo.", "evidence": [ { "database": "RefSeq", "id": "NP_000280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000280" }, { "database": "PubMed", "id": "15020257", "url": "https://glygen.org/publication/PubMed/15020257" } ] }, { "annotation": "RNAi screening reveals a synthetic chemical-genetic interaction between ATP synthase and PFK1 in cancer cells.", "evidence": [ { "database": "RefSeq", "id": "NP_000280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000280" }, { "database": "PubMed", "id": "36601784", "url": "https://glygen.org/publication/PubMed/36601784" } ] }, { "annotation": "Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_000280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000280" } ] } ], "disease": [ { "disease_id": "DOID:11721", "recommended_name": { "id": "DOID:11721", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11721", "name": "glycogen storage disease VII", "description": "A glycogen storage disease that is characterized by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis and that has_material_basis_in homozygous or compound heterozygous mutation in the PFKM gene, which encodes muscle phosphofructokinase, on chromosome 12q13." }, "synonyms": [ { "id": "DOID:11721", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11721", "name": "Glycogen storage disease 7", "description": "" }, { "id": "DOID:11721", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11721", "name": "Glycogen storage disease, type VII", "description": "" }, { "id": "DOID:11721", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11721", "name": "Muscle phosphofructokinase deficiency", "description": "" }, { "id": "DOID:11721", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11721", "name": "glycogen storage disease type VII", "description": "" }, { "id": "DOID:11721", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11721", "name": "phosphofructokinase myopathy", "description": "" }, { "id": "MONDO:0009295", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009295", "name": "glycogen storage disease VII", "description": "Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood." }, { "id": "MONDO:0009295", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009295", "name": "GSD due to muscle phosphofructokinase deficiency", "description": "" }, { "id": "MONDO:0009295", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009295", "name": "GSD type 7", "description": "" }, { "id": "MONDO:0009295", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009295", "name": "GSD type VII", "description": "" }, { "id": "MONDO:0009295", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009295", "name": "GSDVII", "description": "" }, { "id": "MONDO:0009295", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009295", "name": "PFKM glycogen storage disease", "description": "" }, { "id": "MONDO:0009295", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009295", "name": "Tarui disease", "description": "" }, { "id": "MONDO:0009295", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009295", "name": "glycogen storage disease VII", "description": "" }, { "id": "MONDO:0009295", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009295", "name": "glycogen storage disease caused by mutation in PFKM", "description": "" }, { "id": "MONDO:0009295", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009295", "name": "glycogen storage disease type 7", "description": "" }, { "id": "MONDO:0009295", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009295", "name": "glycogen storage disease type VII", "description": "" }, { "id": "MONDO:0009295", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009295", "name": "glycogen storage disease, type VII", "description": "" }, { "id": "MONDO:0009295", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009295", "name": "glycogenosis due to muscle phosphofructokinase deficiency", "description": "" }, { "id": "MONDO:0009295", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009295", "name": "glycogenosis type 7", "description": "" }, { "id": "MONDO:0009295", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009295", "name": "glycogenosis type VII", "description": "" }, { "id": "MONDO:0009295", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009295", "name": "phosphofructokinase deficiency", "description": "" }, { "id": "MONDO:0009295", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009295", "name": "phosphofructokinase myopathy", "description": "" }, { "id": "MONDO:0009295", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009295", "name": "GSD 7", "description": "" }, { "id": "MONDO:0009295", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009295", "name": "GSD7", "description": "" }, { "id": "MONDO:0009295", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009295", "name": "Pfkm deficiency", "description": "" }, { "id": "MONDO:0009295", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009295", "name": "glycogen storage disease 7", "description": "" }, { "id": "MONDO:0009295", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009295", "name": "glycogen storage disease due to muscle phosphofructokinase deficiency", "description": "" }, { "id": "MONDO:0009295", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009295", "name": "muscle phosphofructokinase deficiency", "description": "" }, { "id": "MIM:232800", "resource": "MIM", "url": "https://www.omim.org/entry/232800", "name": "Glycogen storage disease 7", "description": "Glycogen storage disease 7" } ], "evidence": [ { "id": "232800", "database": "MIM", "url": "https://www.omim.org/entry/232800" } ] } ], "snv": [ { "evidence": [ { "id": "rs781110394", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781110394" }, { "id": "rs781110394", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781110394" }, { "id": "rs781110394", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781110394" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 173, "end_pos": 173, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DMT->NMT).", "chr_id": "12", "chr_pos": "48133404", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D173", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768875964", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768875964" }, { "id": "rs768875964", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768875964" }, { "id": "rs768875964", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768875964" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 343, "end_pos": 343, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQA->NQS).", "chr_id": "12", "chr_pos": "48137811", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A343", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1355737289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1355737289" }, { "id": "rs1355737289", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1355737289#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 398, "end_pos": 398, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SGS->NGS).", "chr_id": "12", "chr_pos": "48140723", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S398", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1051230102", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1051230102" }, { "id": "rs1051230102", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1051230102#frequency_tab" }, { "id": "rs1051230102", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1051230102" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "start_pos": 634, "end_pos": 634, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NEN->NES).", "chr_id": "12", "chr_pos": "48142005", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N634", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1257916407", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1257916407" }, { "id": "rs1257916407", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1257916407#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "start_pos": 634, "end_pos": 634, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NEN->NET).", "chr_id": "12", "chr_pos": "48144066", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N634", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1592827311", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1592827311" }, { "id": "rs1592827311", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1592827311" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 676, "end_pos": 676, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFA->NFS).", "chr_id": "12", "chr_pos": "48145064", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A676", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1388020520", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1388020520" }, { "id": "rs1388020520", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1388020520" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 687, "end_pos": 687, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NWM->NWT).", "chr_id": "12", "chr_pos": "48145098", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M687", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1290241672", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1290241672" }, { "id": "rs1290241672", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1290241672#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 72, "end_pos": 72, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SVS->NVS).", "chr_id": "12", "chr_pos": "48131371", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S72", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "94.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000152556", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152556" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "82.47", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000152556", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152556" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "91.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000152556", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152556" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "90.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000152556", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152556" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "96.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000152556", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152556" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "93.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000152556", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152556" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "88.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000152556", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152556" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "92.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000152556", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152556" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "91.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000152556", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152556" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "82.62", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000152556", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152556" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "77.27", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000152556", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152556" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "92.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000152556", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152556" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "91.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000152556", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152556" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P08237", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08237" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", 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"url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", 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"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": 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"https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": 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hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P08237", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08237" } ], "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": 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P08237", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08237" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08237" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P08237", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08237" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"MTHEEHHAAKTLGIGKAIAVLTSGGDAQGMNAAVRAVVRVGIFTGARVFFVHEGYQGLVDGGDHIKEATWESVSMMLQLGGTVIGSARCKDFREREGRLRAAYNLVKRGITNLCVIGGDGSLTGADTFRSEWSDLLSDLQKAGKITDEEATKSSYLNIVGLVGSIDNDFCGTDMTIGTDSALHRIMEIVDAITTTAQSHQRTFVLEVMGRHCGYLALVTSLSCGADWVFIPECPPDDDWEEHLCRRLSETRTRGSRLNIIIVAEGAIDKNGKPITSEDIKNLVVKRLGYDTRVTVLGHVQRGGTPSAFDRILGSRMGVEAVMALLEGTPDTPACVVSLSGNQAVRLPLMECVQVTKDVTKAMDEKKFDEALKLRGRSFMNNWEVYKLLAHVRPPVSKSGSHTVAVMNVGAPAAGMNAAVRSTVRIGLIQGNRVLVVHDGFEGLAKGQIEEAGWSYVGGWTGQGGSKLGTKRTLPKKSFEQISANITKFNIQGLVIIGGFEAYTGGLELMEGRKQFDELCIPFVVIPATVSNNVPGSDFSVGADTALNTICTTCDRIKQSAAGTKRRVFIIETMGGYCGYLATMAGLAAGADAAYIFEEPFTIRDLQANVEHLVQKMKTTVKRGLVLRNEKCNENYTTDFIFNLYSEEGKGIFDSRKNVLGHMQQGGSPTPFDRNFATKMGAKAMNWMSGKIKESYRNGRIFANTPDSGCVLGMRKRALVFQPVAELKDQTDFEHRIPKEQWWLKLRPILKILAKYEIDLDTSDHAHLEHITRKRSGEAAV", "length": 780, "header": "sp|P08237-1|PFKAM_HUMAN Isoform 1 of ATP-dependent 6-phosphofructokinase, muscle type OS=Homo sapiens OX=9606 GN=PFKM PE=1 SV=2 CANONICAL=P08237-1" }, "isoforms": [ { "isoform_ac": "A0A2R8Y891-1", "url": "", "sequence": { "sequence": "MHKDEFHLKFFMCVIQSRQLVRTPQRTAGEASTSSMLIPKPPPKTDILKSLDTMDDPDTVGSIPVFKTECAEVEIQVSKRKRAVVKARGDPTVETMKQREEWIMTHEEHHAAKTLGIGKAIAVLTSGGDAQGMNAAVRAVVRVGIFTGARVFFVHEGYQGLVDGGDHIKEATWESVSMMLQLGGTVIGSARCKDFREREGRLRAAYNLVKRGITNLCVIGGDGSLTGADTFRSEWSDLLSDLQKAGKITDEEATKSSYLNIVGLVGSIDNDFCGTDMTIGTDSALHRIMEIVDAITTTAQSHQRTFVLEVMGRHCGYLALVTSLSCGADWVFIPECPPDDDWEEHLCRRLSETRTRGSRLNIIIVAEGAIDKNGKPITSEDIKNLVVKRLGYDTRVTVLGHVQRGGTPSAFDRILGSRMGVEAVMALLEGTPDTPACVVSLSGNQAVRLPLMECVQVTKDVTKAMDEKKFDEALKLRGRSFMNNWEVYKLLAHVRPPVSKSGSHTVAVMNVGAPAAGMNAAVRSTVRIGLIQGNRVLVVHDGFEGLAKGQIEEAGWSYVGGWTGQGGSKLGTKRTLPKKSFEQISANITKFNIQGLVIIGGFEAYTGGLELMEGRKQFDELCIPFVVIPATVSNNVPGSDFSVGADTALNTICTTCDRIKQSAAGTKRRVFIIETMGGYCGYLATMAGLAAGADAAYIFEEPFTIRDLQANVEHLVQKMKTTVKRGLVLRNEKCNENYTTDFIFNLYSEEGKGIFDSRKNVLGHMQQGGSPTPFDRNFATKMGAKAMNWMSGKIKESYRNGRIFANTPDSGCVLGMRKRALVFQPVAELKDQTDFEHRIPKEQWWLKLRPILKILAKYEIDLDTSDHAHLEHITRKRSGEAAV", "length": 883, "header": "tr|A0A2R8Y891-1|A0A2R8Y891_HUMAN Computationally mapped isoform of ATP-dependent 6-phosphofructokinase OS=Homo sapiens OX=9606 GN=PFKM PE=1 SV=1 CANONICAL=P08237-1" }, "locus": { "chromosome": "12", "start_pos": 48145705, "end_pos": 48107374, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000642730.1", "url": "https://www.ensembl.org/id/ENST00000642730.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496597.1", "url": "https://www.ensembl.org/id/ENSP00000496597.1" } ] } }, { "isoform_ac": "F8VNZ1-1", "url": "", "sequence": { "sequence": "MHKDEFHLKFFMCVIQSRQLVRTPQRTAGEASTSSMLIPKPPPKTDILKSLDTMDDPDTVGSIPVFKTECAEVEIQVSKRKRAVVKARGDPTVETMKQREEWIMTHEEHHAAKTLGIGKAIAVLT", "length": 125, "header": "tr|F8VNZ1-1|F8VNZ1_HUMAN Computationally mapped isoform of Phosphofructokinase, muscle OS=Homo sapiens OX=9606 GN=PFKM PE=1 SV=1 CANONICAL=P08237-1" }, "locus": { "chromosome": "12", "start_pos": 48122840, "end_pos": 48107374, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000546755.5", "url": "https://www.ensembl.org/id/ENST00000546755.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000450173.1", "url": "https://www.ensembl.org/id/ENSP00000450173.1" } ] } }, { "isoform_ac": "F8VP00-1", "url": "", "sequence": { "sequence": "MTHEEHHAAKTLGIGKAIAVLTSGGDAQGMNAAVRSTVRIGLIQGNRVLVVHDGFEGLAKGQIEEAGWSYVGGWTGQGGSKLGTKRTLPKKSFEQISANITKFNIQGLVIIGGFEAYTGGLELMEGRKQFDELCIPFVVIPATVSNNVPGSDFSVGADTALNTICTTCDRIKQSAA", "length": 176, "header": "tr|F8VP00-1|F8VP00_HUMAN Computationally mapped isoform of 6-phosphofructokinase OS=Homo sapiens OX=9606 GN=PFKM PE=1 SV=8 CANONICAL=P08237-1" }, "locus": { "chromosome": "12", "start_pos": 48142811, "end_pos": 48122775, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000546465.1", "url": "https://www.ensembl.org/id/ENST00000546465.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000446519.1", "url": "https://www.ensembl.org/id/ENSP00000446519.1" } ] } }, { "isoform_ac": "F8VSF5-1", "url": "", "sequence": { "sequence": "MTHEEHHAAKTLGIGKAIAVLTSGGDAQEMGRDRPGAVAHTCNPRTLGGRGGQITRGWEFETSLTNMEKPRLY", "length": 73, "header": "tr|F8VSF5-1|F8VSF5_HUMAN Computationally mapped isoform of Phosphofructokinase, muscle OS=Homo sapiens OX=9606 GN=PFKM PE=1 SV=1 CANONICAL=P08237-1" }, "locus": { "chromosome": "12", "start_pos": 48125458, "end_pos": 48122775, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000547066.5", "url": "https://www.ensembl.org/id/ENST00000547066.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000448318.1", "url": "https://www.ensembl.org/id/ENSP00000448318.1" } ] } }, { "isoform_ac": "F8VSF7-1", "url": "", "sequence": { "sequence": "MTHEEHHAAKTLGIGKAIAVLTSGGDAQGMNAAVRAVVRVGIFTGARVFFVHEGYQGLVDGGDHIKEATWESVSMMLQLLSSLKIHGQKFNMQCLVKALPRC", "length": 102, "header": "tr|F8VSF7-1|F8VSF7_HUMAN Computationally mapped isoform of 6-phosphofructokinase OS=Homo sapiens OX=9606 GN=PFKM PE=1 SV=1 CANONICAL=P08237-1" }, "locus": { "chromosome": "12", "start_pos": 48132087, "end_pos": 48122775, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000551485.5", "url": "https://www.ensembl.org/id/ENST00000551485.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000448315.1", "url": "https://www.ensembl.org/id/ENSP00000448315.1" } ] } }, { "isoform_ac": "F8VTQ3-1", "url": "", "sequence": { "sequence": "MRRGFRPGAERKTREPPRTGTAFTAPEESLAGEASTSSMLIPKPPPKTDILKSLDTMDDPDTVGSIPVFKTEWIMTHEEHHAAKTLGIGKAIAVLTSGGDAQGMNAAVRAVVRVGIFTGARVFFVHEGYQGLVDGGDHIKEATWESVSMMLQLGGTVIGSARCKDFREREGRLRAAYNLVKRGITNLCVIGGDGSLTGADTFRSEWSDLLSDLQKAGKITDEEATKSSYLNIVGLVGSIDNDFCGTDMTIGTDSALHRIMEIVDAITTTAQSHQRTFVLEVMGRHCGYLALVTSLSCGADWVFIPECPPDDDWEEHLCRRLSETRTRGSRLNIIIVAEGAIDKNGKPITSEDIKNLVVKRLGYDTRVTVLGHVQRGGTPSAFDRILGSRMGVEAVMALLEGTPDTPACVVSLSGNQAVRLPLMECVQVTKDVTKAMDEKKFDEALKLRGRSFMNNWEVYKLLAHVRPPVSKSGSHTVAVMNVGAPAAGMNAAVRSTVRIGLIQGNRVLVVHDGFEGLAKGQIEEAGWSYVGGWTGQGGSKLGTKRTLPKKSFEQISANITKFNIQGLVIIGGFEAYTGGLELMEGRKQFDELCIPFVVIPATVSNNVPGSDFSVGADTALNTICTTCDRIKQSAAGTKRRVFIIETMGGYCGYLATMAGLAAGADAAYIFEEPFTIRDLQANVEHLVQKMKTTVKRGLVLRNEKCNENYTTDFIFNLYSEEGKGIFDSRKNVLGHMQQGGSPTPFDRNFATKMGAKAMNWMSGKIKESYRNGRIFANTPDSGCVLGMRKRALVFQPVAELKDQTDFEHRIPKEQWWLKLRPILKILAKYEIDLDTSDHAHLEHITRKRSGEAAV", "length": 854, "header": "tr|F8VTQ3-1|F8VTQ3_HUMAN Computationally mapped isoform of 6-phosphofructokinase OS=Homo sapiens OX=9606 GN=PFKM PE=1 SV=3 CANONICAL=P08237-1" }, "locus": {} }, { "isoform_ac": "F8VTT5-1", "url": "", "sequence": { "sequence": "MHKDEFHLKFFMCVIQSRQLVRTPQRTAGEASTSSMLIPKPPPKTDILKSLDTMDDPDTVGSIPVFKTECAEVEIQVSKRKRAVVKARGDPTVETMKQREEWIMTHEEHHAAKTLGIGKAIAVLTSGGDAQEMGRDRPGAVAHTCNPRTLGGRGGQITRGWEFETSLTNMEKPRLY", "length": 176, "header": "tr|F8VTT5-1|F8VTT5_HUMAN Computationally mapped isoform of Phosphofructokinase, muscle OS=Homo sapiens OX=9606 GN=PFKM PE=1 SV=1 CANONICAL=P08237-1" }, "locus": { "chromosome": "12", "start_pos": 48125458, "end_pos": 48107374, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000547581.5", "url": "https://www.ensembl.org/id/ENST00000547581.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000447992.1", "url": "https://www.ensembl.org/id/ENSP00000447992.1" } ] } }, { "isoform_ac": "F8VUB8-1", "url": "", "sequence": { "sequence": "MHKDEFHLKFFMCVIQSRQLVRTPQRTAGEASTSSMLIPKPPPKTDILKSLDTMDDPDTVGSIPVFKTEWIMTHEEHHAAKTLGIGKAIAVLTSGGDAQGMNAAVRAVVRVGIFTGARVFFVHEGYQGLVDGGDHIKEATW", "length": 141, "header": "tr|F8VUB8-1|F8VUB8_HUMAN Computationally mapped isoform of 6-phosphofructokinase OS=Homo sapiens OX=9606 GN=PFKM PE=1 SV=1 CANONICAL=P08237-1" }, "locus": { "chromosome": "12", "start_pos": 48131366, "end_pos": 48107374, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000548288.5", "url": "https://www.ensembl.org/id/ENST00000548288.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000448018.1", "url": "https://www.ensembl.org/id/ENSP00000448018.1" } ] } }, { "isoform_ac": "F8VVE3-1", "url": "", "sequence": { "sequence": "MHKDEFHLKFFMCVIQSRQLVRTPQRTAGEASTSSMLIPKPPPKTDILKSLDTMDDPDTVGSIPVFKTECAEVEIQVSKRKRAVVKARGDPTVETMKQREEWIMTHEEHHAAKTLGIGKAIAVLTSGGDAQGMNAAVRAVVRVGIFTGARVFFVHEGYQGLVDGG", "length": 165, "header": "tr|F8VVE3-1|F8VVE3_HUMAN Computationally mapped isoform of 6-phosphofructokinase OS=Homo sapiens OX=9606 GN=PFKM PE=1 SV=1 CANONICAL=P08237-1" }, "locus": { "chromosome": "12", "start_pos": 48131342, "end_pos": 48107374, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000549366.5", "url": "https://www.ensembl.org/id/ENST00000549366.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000449622.1", "url": "https://www.ensembl.org/id/ENSP00000449622.1" } ] } }, { "isoform_ac": "F8VW30-1", "url": "", "sequence": { "sequence": "MTHEEHHAAKTLGIGKAIAVLTSGGDAQGMNAAVRAVVRVGIFTGARVFFVHEGYQGLVDGGDHIKEATWESVSMMLQLGGTVIGSARCKDFREREGRLRAAYNLVKRGITNLCVI", "length": 116, "header": "tr|F8VW30-1|F8VW30_HUMAN Computationally mapped isoform of 6-phosphofructokinase OS=Homo sapiens OX=9606 GN=PFKM PE=1 SV=8 CANONICAL=P08237-1" }, "locus": { "chromosome": "12", "start_pos": 48132978, "end_pos": 48122775, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000549003.5", "url": "https://www.ensembl.org/id/ENST00000549003.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000449835.1", "url": "https://www.ensembl.org/id/ENSP00000449835.1" } ] } }, { "isoform_ac": "F8VX13-1", "url": "", "sequence": { "sequence": "MTHEEHHAAKTLGIGKAIAVLTSGGDAQGMNAAVRAVVRVGIFTGARVFFVHEGYQGLVDGGDHIKEATWESVSMMLQLGGTVIGSARCKDFREREGRLRAAYNLVKRGITNLCVIGGDGSLTGADTFRSEWSDLLSDLQKADDDWEEHLCRRLSE", "length": 156, "header": "tr|F8VX13-1|F8VX13_HUMAN Computationally mapped isoform of 6-phosphofructokinase OS=Homo sapiens OX=9606 GN=PFKM PE=1 SV=1 CANONICAL=P08237-1" }, "locus": { "chromosome": "12", "start_pos": 48134829, "end_pos": 48122775, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000548345.5", "url": "https://www.ensembl.org/id/ENST00000548345.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000449269.1", "url": "https://www.ensembl.org/id/ENSP00000449269.1" } ] } }, { "isoform_ac": "F8VYK8-1", "url": "", "sequence": { "sequence": "MHKDEFHLKFFMCVIQSRQLVRTPQRTAGEASTSSMLIPKPPPKTDILKSLDTMDDPDTVGSIPVFKTEWIMTHEEHHAAKTLGIGKAIAVLTSGGDAQGMNAAVRAVVRVGIFTGARVFFVHEGYQGLVDGGDHIKEATWESVSMMLQ", "length": 149, "header": "tr|F8VYK8-1|F8VYK8_HUMAN Computationally mapped isoform of 6-phosphofructokinase OS=Homo sapiens OX=9606 GN=PFKM PE=1 SV=8 CANONICAL=P08237-1" }, "locus": { "chromosome": "12", "start_pos": 48131390, "end_pos": 48107374, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000552792.5", "url": "https://www.ensembl.org/id/ENST00000552792.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000448940.1", "url": "https://www.ensembl.org/id/ENSP00000448940.1" } ] } }, { "isoform_ac": "F8VZ53-1", "url": "", "sequence": { "sequence": "MTHEEHHAAKTLGIGKAIAVLTSGGDAQEDICVRSNGPPLWIPGPCHLSVLWGRLGFYS", "length": 59, "header": "tr|F8VZ53-1|PFKAM_HUMAN Computationally mapped isoform of ATP-dependent 6-phosphofructokinase, muscle type OS=Homo sapiens OX=9606 GN=PFKM PE=1 SV=1 CANONICAL=P08237-1" }, "locus": { "chromosome": "12", "start_pos": 48134774, "end_pos": 48122775, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000552989.5", "url": "https://www.ensembl.org/id/ENST00000552989.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000447774.1", "url": "https://www.ensembl.org/id/ENSP00000447774.1" } ] } }, { "isoform_ac": "F8VZI0-1", "url": "", "sequence": { "sequence": "MTHEEHHAAKTLGIGKAIAVLTSGGDAQGMNAAVRAVVRVGIFTGARVFFVHEGYQGLVDGGDHIKEATWESVSMMLQLGGTVIGSARCKDFREREGRLRAAYNLVKRGITNLCVIGGDGSLTGADTFRSEWSDLLSDLQKAGKITDEEATKSSYLNIVGLVGSIDNDFCGTDMTIGTDSALHRIMEIVDAITTTAQSHQRTFVLEVMGRHCGYLALVTSLSCGADWVFIPECPPDDDWEEHLCRRLSETRTRGSRLNIIIVAEGAIDKNGKPITSEDIKNGSRMGVEAVMALLEGTPDTPACVVSLSGNQAVRLPLMECVQVTKDVTKAMDEKKFDEALKLRGRSFMNNWEVYKLLAHVRPPVSKSGSHTVAVMNVGAPAAGMNAAVRSTVRIGLIQGNRVLVVHDGFEGLAKGQIEEAGWSYVGGWTGQGGSKLGTKRTLPKKSFEQISANITKFNIQGLVIIGGFEAYTGGLELMEGRKQFDELCIPFVVIPATVSNNVPGSDFSVGADTALNTICTANVEHLVQKMKTTVKRGLVLRNEKCNENYTTDFIFNLYSEEGKGIFDSRKNVLGHMQQGGSPTPFDRNFATKMGAKAMNWMSGKIKESYRNGRIFANTPDSGCVLGMRKRALVFQPVAELKDQTDFEHRIPKEQWWLKLRPILKILAKYEIDLDTSDHAHLEHITRKRSGEAAV", "length": 694, "header": "tr|F8VZI0-1|PFKAM_HUMAN Computationally mapped isoform of ATP-dependent 6-phosphofructokinase, muscle type OS=Homo sapiens OX=9606 GN=PFKM PE=1 SV=10 CANONICAL=P08237-1" }, "locus": { "chromosome": "12", "start_pos": 48145705, "end_pos": 48122775, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000549941.7", "url": "https://www.ensembl.org/id/ENST00000549941.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000446829.3", "url": "https://www.ensembl.org/id/ENSP00000446829.3" } ] } }, { "isoform_ac": "F8VZQ1-1", "url": "", "sequence": { "sequence": "MTHEEHHAAKTLGIGKAIAVLTSGGDAQGMNAAVRAVVRVGIFTGARVFFVHEGYQGLVDGGDHIKEATWESVSMMLQLGGTVIGSARCKDFREREGRLRAAYNLVKRGITNLCVIGGDGSLTGADTFRSEWSDLLSDLQKAGKITDEEATKSSYLNIVGL", "length": 161, "header": "tr|F8VZQ1-1|PFKAM_HUMAN Computationally mapped isoform of ATP-dependent 6-phosphofructokinase, muscle type OS=Homo sapiens OX=9606 GN=PFKM PE=1 SV=1 CANONICAL=P08237-1" }, "locus": { "chromosome": "12", "start_pos": 48133370, "end_pos": 48122775, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000549022.5", "url": "https://www.ensembl.org/id/ENST00000549022.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000446805.1", "url": "https://www.ensembl.org/id/ENSP00000446805.1" } ] } }, { "isoform_ac": "H0YHB8-1", "url": "", "sequence": { "sequence": "XSLSGNQAVRLPLMECVQVTKDVTKAMDEKKFDEALKLRGR", "length": 41, "header": "tr|H0YHB8-1|PFKAM_HUMAN Computationally mapped isoform of ATP-dependent 6-phosphofructokinase, muscle type OS=Homo sapiens OX=9606 GN=PFKM PE=1 SV=1 CANONICAL=P08237-1" }, "locus": { "chromosome": "12", "start_pos": 48139351, "end_pos": 48137791, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000552752.5", "url": "https://www.ensembl.org/id/ENST00000552752.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000446740.1", "url": "https://www.ensembl.org/id/ENSP00000446740.1" } ] } }, { "isoform_ac": "P08237-1", "url": "", "sequence": { "sequence": "MTHEEHHAAKTLGIGKAIAVLTSGGDAQGMNAAVRAVVRVGIFTGARVFFVHEGYQGLVDGGDHIKEATWESVSMMLQLGGTVIGSARCKDFREREGRLRAAYNLVKRGITNLCVIGGDGSLTGADTFRSEWSDLLSDLQKAGKITDEEATKSSYLNIVGLVGSIDNDFCGTDMTIGTDSALHRIMEIVDAITTTAQSHQRTFVLEVMGRHCGYLALVTSLSCGADWVFIPECPPDDDWEEHLCRRLSETRTRGSRLNIIIVAEGAIDKNGKPITSEDIKNLVVKRLGYDTRVTVLGHVQRGGTPSAFDRILGSRMGVEAVMALLEGTPDTPACVVSLSGNQAVRLPLMECVQVTKDVTKAMDEKKFDEALKLRGRSFMNNWEVYKLLAHVRPPVSKSGSHTVAVMNVGAPAAGMNAAVRSTVRIGLIQGNRVLVVHDGFEGLAKGQIEEAGWSYVGGWTGQGGSKLGTKRTLPKKSFEQISANITKFNIQGLVIIGGFEAYTGGLELMEGRKQFDELCIPFVVIPATVSNNVPGSDFSVGADTALNTICTTCDRIKQSAAGTKRRVFIIETMGGYCGYLATMAGLAAGADAAYIFEEPFTIRDLQANVEHLVQKMKTTVKRGLVLRNEKCNENYTTDFIFNLYSEEGKGIFDSRKNVLGHMQQGGSPTPFDRNFATKMGAKAMNWMSGKIKESYRNGRIFANTPDSGCVLGMRKRALVFQPVAELKDQTDFEHRIPKEQWWLKLRPILKILAKYEIDLDTSDHAHLEHITRKRSGEAAV", "length": 780, "header": "sp|P08237-1|PFKAM_HUMAN Isoform 1 of ATP-dependent 6-phosphofructokinase, muscle type OS=Homo sapiens OX=9606 GN=PFKM PE=1 SV=2 CANONICAL=P08237-1" }, "locus": { "chromosome": "12", "start_pos": 48145705, "end_pos": 48122775, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000312352.11", "url": "https://www.ensembl.org/id/ENST00000312352.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000309438.7", "url": "https://www.ensembl.org/id/ENSP00000309438.7" } ] } }, { "isoform_ac": "P08237-2", "url": "", "sequence": { "sequence": "MTHEEHHAAKTLGIGKAIAVLTSGGDAQGMNAAVRAVVRVGIFTGARVFFVHEGYQGLVDGGDHIKEATWESVSMMLQLGGTVIGSARCKDFREREGRLRAAYNLVKRGITNLCVIGGDGSLTGADTFRSEWSDLLSDLQKAGKITDEEATKSSYLNIVGLVGSIDNDFCGTDMTIGTDSALHRIMEIVDAITTTAQSHQRTFVLEVMGRHCGYLALVTSLSCGADWVFIPECPPDDDWEEHLCRRLSETRTRGSRLNIIIVAEGAIDKNGKPITSEDIKNGSRMGVEAVMALLEGTPDTPACVVSLSGNQAVRLPLMECVQVTKDVTKAMDEKKFDEALKLRGRSFMNNWEVYKLLAHVRPPVSKSGSHTVAVMNVGAPAAGMNAAVRSTVRIGLIQGNRVLVVHDGFEGLAKGQIEEAGWSYVGGWTGQGGSKLGTKRTLPKKSFEQISANITKFNIQGLVIIGGFEAYTGGLELMEGRKQFDELCIPFVVIPATVSNNVPGSDFSVGADTALNTICTTCDRIKQSAAGTKRRVFIIETMGGYCGYLATMAGLAAGADAAYIFEEPFTIRDLQANVEHLVQKMKTTVKRGLVLRNEKCNENYTTDFIFNLYSEEGKGIFDSRKNVLGHMQQGGSPTPFDRNFATKMGAKAMNWMSGKIKESYRNGRIFANTPDSGCVLGMRKRALVFQPVAELKDQTDFEHRIPKEQWWLKLRPILKILAKYEIDLDTSDHAHLEHITRKRSGEAAV", "length": 749, "header": "sp|P08237-2|PFKAM_HUMAN Isoform 2 of ATP-dependent 6-phosphofructokinase, muscle type OS=Homo sapiens OX=9606 GN=PFKM PE=1 SV=2 CANONICAL=P08237-1" }, "locus": { "chromosome": "12", "start_pos": 48145705, "end_pos": 48122775, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000551804.5", "url": "https://www.ensembl.org/id/ENST00000551804.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000448177.1", "url": "https://www.ensembl.org/id/ENSP00000448177.1" } ] } }, { "isoform_ac": "P08237-3", "url": "", "sequence": { "sequence": "MHKDEFHLKFFMCVIQSRQLVRTPQRTAGEASTSSMLIPKPPPKTDILKSLDTMDDPDTVGSIPVFKTEWIMTHEEHHAAKTLGIGKAIAVLTSGGDAQGMNAAVRAVVRVGIFTGARVFFVHEGYQGLVDGGDHIKEATWESVSMMLQLGGTVIGSARCKDFREREGRLRAAYNLVKRGITNLCVIGGDGSLTGADTFRSEWSDLLSDLQKAGKITDEEATKSSYLNIVGLVGSIDNDFCGTDMTIGTDSALHRIMEIVDAITTTAQSHQRTFVLEVMGRHCGYLALVTSLSCGADWVFIPECPPDDDWEEHLCRRLSETRTRGSRLNIIIVAEGAIDKNGKPITSEDIKNLVVKRLGYDTRVTVLGHVQRGGTPSAFDRILGSRMGVEAVMALLEGTPDTPACVVSLSGNQAVRLPLMECVQVTKDVTKAMDEKKFDEALKLRGRSFMNNWEVYKLLAHVRPPVSKSGSHTVAVMNVGAPAAGMNAAVRSTVRIGLIQGNRVLVVHDGFEGLAKGQIEEAGWSYVGGWTGQGGSKLGTKRTLPKKSFEQISANITKFNIQGLVIIGGFEAYTGGLELMEGRKQFDELCIPFVVIPATVSNNVPGSDFSVGADTALNTICTTCDRIKQSAAGTKRRVFIIETMGGYCGYLATMAGLAAGADAAYIFEEPFTIRDLQANVEHLVQKMKTTVKRGLVLRNEKCNENYTTDFIFNLYSEEGKGIFDSRKNVLGHMQQGGSPTPFDRNFATKMGAKAMNWMSGKIKESYRNGRIFANTPDSGCVLGMRKRALVFQPVAELKDQTDFEHRIPKEQWWLKLRPILKILAKYEIDLDTSDHAHLEHITRKRSGEAAV", "length": 851, "header": "sp|P08237-3|PFKAM_HUMAN Isoform 3 of ATP-dependent 6-phosphofructokinase, muscle type OS=Homo sapiens OX=9606 GN=PFKM PE=1 SV=2 CANONICAL=P08237-1" }, "locus": { "chromosome": "12", "start_pos": 48145705, "end_pos": 48107374, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000340802.12", "url": "https://www.ensembl.org/id/ENST00000340802.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000345771.6", "url": "https://www.ensembl.org/id/ENSP00000345771.6" } ] } } ], "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": 503, "start_aa": "Thr", "end_pos": 503, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr503", "evidence": [ { "id": "P08237", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08237" }, { "id": "16408927", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16408927" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "22923583", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22923583" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "predicted", "site_seq": "S", "relation": "attached", "comment": "O-linked (GlcNAc) serine O-GlcNAcylation", "start_pos": 530, "start_aa": "Ser", "end_pos": 530, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser530", "evidence": [ { "id": "P08237", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08237#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 133, "end_pos": 133, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P08237", "url": "https://www.uniprot.org/uniprot/P08237" } ], "site_lbl": "Ser133" }, { "start_pos": 2, "end_pos": 2, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08237", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08237" }, { "database": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" }, { "database": "phospho.ELM", "id": "P08237", "url": "http://phospho.elm.eu.org/byAccession/P08237.html" } ], "site_lbl": "Thr2" }, { "start_pos": 377, "end_pos": 377, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P08237", "url": "https://www.uniprot.org/uniprot/P08237" }, { "database": "iPTMnet", "id": "P08237", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08237" }, { "database": "PubMed", "id": "1825608", "url": "https://glygen.org/publication/PubMed/1825608" } ], "site_lbl": "Ser377" }, { "start_pos": 667, "end_pos": 667, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P08237", "url": "https://www.uniprot.org/uniprot/P08237" }, { "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": "P08237", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08237" } ], "site_lbl": "Ser667" }, { "start_pos": 72, "end_pos": 72, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08237", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08237" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser72" }, { "start_pos": 775, "end_pos": 775, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P08237", "url": "https://www.uniprot.org/uniprot/P08237" }, { "database": "iPTMnet", "id": "P08237", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08237" }, { "database": "PubMed", "id": "1825608", "url": "https://glygen.org/publication/PubMed/1825608" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser775" }, { "start_pos": 82, "end_pos": 82, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08237", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08237" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr82" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Human glyceraldehyde 3-phosphate dehydrogenase-2 gene is expressed specifically in spermatogenic cells.", "journal": "Journal of andrology", "date": "2000", "authors": "Welch JE, Brown PL, O'Brien DA, Magyar PL, Bunch DO, Mori C, Eddy EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "10714828", "url": "https://glygen.org/publication/PubMed/10714828" } ] }, { "title": "The crystal structure of human phosphoglucose isomerase at 1.6 A resolution: implications for catalytic mechanism, cytokine activity and haemolytic anaemia.", "journal": "Journal of molecular biology", "date": "2001", "authors": "Read J, Pearce J, Li X, Muirhead H, Chirgwin J, Davies C", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "11371164", "url": "https://glygen.org/publication/PubMed/11371164" } ] }, { "title": "Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis.", "journal": "Annals of neurology", "date": "2001", "authors": "Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S, Keller A, Ciscato P, Galbiati S, Chiveri L, Torrente Y, Scarlato G, Bresolin N", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "11506403", "url": "https://glygen.org/publication/PubMed/11506403" } ] }, { "title": "GLUT2 in pancreatic and extra-pancreatic gluco-detection (review).", "journal": "Molecular membrane biology", "date": "2001", "authors": "Thorens B", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "11780755", "url": "https://glygen.org/publication/PubMed/11780755" } ] }, { "title": "Cloning and functional characterization of GNPI2, a novel human homolog of glucosamine-6-phosphate isomerase/oscillin.", "journal": "Journal of cellular biochemistry", "date": "2003", "authors": "Zhang J, Zhang W, Zou D, Chen G, Wan T, Li N, Cao X", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "12616532", "url": "https://glygen.org/publication/PubMed/12616532" } ] }, { "title": "Characterization of phosphoglycerate kinase from human spermatozoa.", "journal": "Fertility and sterility", "date": "1976", "authors": "Chen SH, Donahue RP, Scott CR", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "1278465", "url": "https://glygen.org/publication/PubMed/1278465" } ] }, { "title": "Two mammalian glucosamine-6-phosphate deaminases: a structural and genetic study.", "journal": "FEBS letters", "date": "2003", "authors": "Arreola R, Valderrama B, Morante ML, Horjales E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "12965206", "url": "https://glygen.org/publication/PubMed/12965206" } ] }, { "title": "Enzymes of the human erythrocyte. IV. Phosphoglucose isomerase, purification and properties.", "journal": "The Journal of biological chemistry", "date": "1958", "authors": "TSUBOI KK, ESTRADA J, HUDSON PB", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "13538944", "url": "https://glygen.org/publication/PubMed/13538944" } ] }, { "title": "Novel testis- and embryo-specific isoforms of the phosphofructokinase-1 muscle type gene.", "journal": "Biochemical and biophysical research communications", "date": "2004", "authors": "Yamada S, Nakajima H, Kuehn MR", "evidence": [ { "database": "RefSeq", "id": "NP_000280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000280" } ], "reference": [ { "type": "PubMed", "id": "15020257", "url": "https://glygen.org/publication/PubMed/15020257" } ] }, { "title": "Phosphoglycerate mutase BB isoenzyme deficiency in a patient with non-spherocytic anemia: familial and metabolic studies.", "journal": "Haematologica", "date": "2005", "authors": "Repiso A, Ramirez Bajo MJ, Corrons JL, Carreras J, Climent F", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "15710582", "url": "https://glygen.org/publication/PubMed/15710582" } ] }, { "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": "P08237", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08237" } ], "reference": [ { "type": "PubMed", "id": "16408927", "url": "https://glygen.org/publication/PubMed/16408927" } ] }, { "title": "Structure of a high-resolution crystal form of human triosephosphate isomerase: improvement of crystals using the gel-tube method.", "journal": "Acta crystallographica. Section F, Structural biology and crystallization communications", "date": "2005", "authors": "Kinoshita T, Maruki R, Warizaya M, Nakajima H, Nishimura S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "16511037", "url": "https://glygen.org/publication/PubMed/16511037" } ] }, { "title": "Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Molina H, Horn DM, Tang N, Mathivanan S, Pandey A", "evidence": [ { "database": "iPTMnet", "id": "P08237-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08237-1" } ], "reference": [ { "type": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" } ] }, { "title": "Molecular identification of mammalian phosphopentomutase and glucose-1,6-bisphosphate synthase, two members of the alpha-D-phosphohexomutase family.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Maliekal P, Sokolova T, Vertommen D, Veiga-da-Cunha M, Van Schaftingen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "17804405", "url": "https://glygen.org/publication/PubMed/17804405" } ] }, { "title": "Protein-induced inactivation and phosphorylation of rabbit muscle phosphofructokinase.", "journal": "Biochemistry", "date": "1991", "authors": "Zhao ZZ, Malencik DA, Anderson SR", "evidence": [ { "database": "iPTMnet", "id": "P08237-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08237-1" } ], "reference": [ { "type": "PubMed", "id": "1825608", "url": "https://glygen.org/publication/PubMed/1825608" } ] }, { "title": "Structure of the entire human muscle phosphofructokinase-encoding gene: a two-promoter system.", "journal": "Gene", "date": "1991", "authors": "Yamasaki T, Nakajima H, Kono N, Hotta K, Yamada K, Imai E, Kuwajima M, Noguchi T, Tanaka T, Tarui S", "evidence": [ { "database": "UniProtKB", "id": "P08237", "url": "https://www.uniprot.org/uniprot/P08237" } ], "reference": [ { "type": "PubMed", "id": "1833270", "url": "https://glygen.org/publication/PubMed/1833270" } ] }, { "title": "Isozymes of glyceraldehyde-3-phosphate dehydrogenase in man and other mammals.", "journal": "Annals of human genetics", "date": "1976", "authors": "Edwards YH, Clark P, Harris H", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "183598", "url": "https://glygen.org/publication/PubMed/183598" } ] }, { "title": "Human liver glucokinase gene: cloning and sequence determination of two alternatively spliced cDNAs.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1991", "authors": "Tanizawa Y, Koranyi LI, Welling CM, Permutt MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "1871135", "url": "https://glygen.org/publication/PubMed/1871135" } ] }, { "title": "Crystalline d-glyceraldehyde-3-phosphate dehydrogenase from rabbit muscle.", "journal": "The Journal of biological chemistry", "date": "1948", "authors": "CORI GT, SLEIN MW, CORI CF", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "18910716", "url": "https://glygen.org/publication/PubMed/18910716" } ] }, { "title": "The prosthetic group of crystalline d-glyceraldehyde-3-phosphate dehydrogenase.", "journal": "The Journal of biological chemistry", "date": "1948", "authors": "TAYLOR JF, VELICK SF, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "18910717", "url": "https://glygen.org/publication/PubMed/18910717" } ] }, { "title": "Mammalian phosphomannomutase PMM1 is the brain IMP-sensitive glucose-1,6-bisphosphatase.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Veiga-da-Cunha M, Vleugels W, Maliekal P, Matthijs G, Van Schaftingen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "18927083", "url": "https://glygen.org/publication/PubMed/18927083" } ] }, { "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": "P08237", "url": "https://www.uniprot.org/uniprot/P08237" }, { "database": "iPTMnet", "id": "P08237-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08237-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Alternative splicing of the transcript encoding the human muscle isoenzyme of phosphofructokinase.", "journal": "J. Biol. Chem.", "date": "1990", "authors": "Sharma P M, Reddy G R, Babior B M, McLachlan A", "evidence": [ { "database": "UniProtKB", "id": "P08237", "url": "https://www.uniprot.org/uniprot/P08237" } ], "reference": [ { "type": "PubMed", "id": "2140567", "url": "https://glygen.org/publication/PubMed/2140567" } ] }, { "title": "Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII).", "journal": "Neuromuscular disorders : NMD", "date": "2012", "authors": "Musumeci O, Bruno C, Mongini T, Rodolico C, Aguennouz M, Barca E, Amati A, Cassandrini D, Serlenga L, Vita G, Toscano A", "evidence": [ { "database": "UniProtKB", "id": "P08237", "url": "https://www.uniprot.org/uniprot/P08237" } ], "reference": [ { "type": "PubMed", "id": "22133655", "url": "https://glygen.org/publication/PubMed/22133655" } ] }, { "title": "Expression and role in glycolysis of human ADP-dependent glucokinase.", "journal": "Molecular and cellular biochemistry", "date": "2012", "authors": "Richter S, Richter JP, Mehta SY, Gribble AM, Sutherland-Smith AJ, Stowell KM, Print CG, Ronimus RS, Wilson WR", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "22219026", "url": "https://glygen.org/publication/PubMed/22219026" } ] }, { "title": "Phosphofructokinase 1 glycosylation regulates cell growth and metabolism.", "journal": "Science (New York, N.Y.)", "date": "2012", "authors": "Yi W, Clark PM, Mason DE, Keenan MC, Hill C, Goddard WA 3rd, Peters EC, Driggers EM, Hsieh-Wilson LC", "evidence": [ { "database": "O-GlcNAc Database", "id": "P08237", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08237" } ], "reference": [ { "type": "PubMed", "id": "22923583", "url": "https://glygen.org/publication/PubMed/22923583" } ] }, { "title": "T cell activation is driven by an ADP-dependent glucokinase linking enhanced glycolysis with mitochondrial 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"https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Disruption of a spermatogenic cell-specific mouse enolase 4 (eno4) gene causes sperm structural defects and male infertility.", "journal": "Biology of reproduction", "date": "2013", "authors": "Nakamura N, Dai Q, Williams J, Goulding EH, Willis WD, Brown PR, Eddy EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "23446454", "url": "https://glygen.org/publication/PubMed/23446454" } ] }, { "title": "First description of phosphofructokinase deficiency in spain: identification of a novel homozygous missense mutation in the PFKM gene.", "journal": "Frontiers in physiology", "date": "2013", "authors": "Vives-Corrons JL, Koralkova P, Grau JM, Manu Pereira Mdel M, Van Wijk R", "evidence": [ { "database": "UniProtKB", "id": "P08237", "url": "https://www.uniprot.org/uniprot/P08237" } ], "reference": [ { 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Mutat.", "date": "1995", "authors": "Raben N, Sherman J B", "evidence": [ { "database": "UniProtKB", "id": "P08237", "url": "https://www.uniprot.org/uniprot/P08237" } ], "reference": [ { "type": "PubMed", "id": "7550225", "url": "https://glygen.org/publication/PubMed/7550225" } ] }, { "title": "Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance.", "journal": "American journal of human genetics", "date": "1995", "authors": "Ali M, Cox TM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "7717389", "url": "https://glygen.org/publication/PubMed/7717389" } ] }, { "title": "Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.", "journal": "American journal of human genetics", "date": "1995", "authors": "Raben N, Exelbert R, Spiegel R, Sherman JB, Nakajima H, Plotz P, Heinisch J", "evidence": [ { "database": "UniProtKB", "id": "P08237", "url": "https://www.uniprot.org/uniprot/P08237" }, { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "7825568", "url": "https://glygen.org/publication/PubMed/7825568" } ] }, { "title": "The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic hemolytic anemia.", "journal": "The Journal of clinical investigation", "date": "1994", "authors": "Xu W, Beutler E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "7989588", "url": "https://glygen.org/publication/PubMed/7989588" } ] }, { "title": "Cloning of a complete protein-coding sequence of human platelet-type phosphofructokinase isozyme from pancreatic islet.", "journal": "Biochemical and biophysical research communications", "date": "1994", "authors": "Eto K, Sakura H, Yasuda K, Hayakawa T, Kawasaki E, Moriuchi R, Nagataki S, Yazaki Y, Kadowaki T", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "8117307", "url": "https://glygen.org/publication/PubMed/8117307" } ] }, { "title": "Structure/function studies of human beta-cell glucokinase. Enzymatic properties of a sequence polymorphism, mutations associated with diabetes, and other site-directed mutants.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Takeda J, Gidh-Jain M, Xu LZ, Froguel P, Velho G, Vaxillaire M, Cohen D, Shimada F, Makino H, Nishi S, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "8325892", "url": "https://glygen.org/publication/PubMed/8325892" } ] }, { "title": "The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.", "journal": "American journal of human genetics", "date": "1993", "authors": "Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "8447317", "url": "https://glygen.org/publication/PubMed/8447317" } ] }, { "title": "Human hexokinase II gene: exon-intron organization, mutation screening in NIDDM, and its relationship to muscle hexokinase activity.", "journal": "Diabetologia", "date": "1995", "authors": "Lehto M, Huang X, Davis EM, Le Beau MM, Laurila E, Eriksson KF, Bell GI, Groop L", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "8786021", "url": "https://glygen.org/publication/PubMed/8786021" } ] }, { "title": "Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII.", "journal": "Human mutation", "date": "1996", "authors": "Hamaguchi T, Nakajima H, Noguchi T, Nakagawa C, Kuwajima M, Kono N, Tarui S, Matsuzawa Y", "evidence": [ { "database": "UniProtKB", "id": "P08237", "url": "https://www.uniprot.org/uniprot/P08237" } ], "reference": [ { "type": "PubMed", "id": "8889589", "url": "https://glygen.org/publication/PubMed/8889589" } ] }, { "title": "Molecularly cloned mammalian glucosamine-6-phosphate deaminase localizes to transporting epithelium and lacks oscillin activity.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "1998", "authors": "Wolosker H, Kline D, Bian Y, Blackshaw S, Cameron AM, Fralich TJ, Schnaar RL, Snyder SH", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "9438414", "url": "https://glygen.org/publication/PubMed/9438414" } ] }, { "title": "The mechanism of regulation of hexokinase: new insights from the crystal structure of recombinant human brain hexokinase complexed with glucose and glucose-6-phosphate.", "journal": "Structure (London, England : 1993)", "date": "1998", "authors": "Aleshin AE, Zeng C, Bourenkov GP, Bartunik HD, Fromm HJ, Honzatko RB", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "9493266", "url": "https://glygen.org/publication/PubMed/9493266" } ] } ], "pathway": [ { "id": "hsa:5213", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5213", "resource": "KEGG Pathway" }, { "id": "R-HSA-70171", "name": "Glycolysis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171", "resource": "Reactome", "description": "Glycolysis" } ], "orthologs": [ { "uniprot_canonical_ac": "P47857-1", "protein_name": "ATP-dependent 6-phosphofructokinase, muscle type", "gene_name": "Pfkm", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MTHEEHHAAKTLGIGKAIAVLTSGGDAQGMNAAVRAVVRVGIFTGARVFFVHEGYQGLVDGGEHIREATWESVSMMLQLGGTVIGSARCKDFREREGRLRAAHNLVKRGITNLCVIGGDGSLTGADTFRSEWSDLLNDLQKDGKITAEEATKSSYLNIVGLVGSIDNDFCGTDMTIGTDSALHRIVEIVDAITTTAQSHQRTFVLEVMGRHCGYLALVTSLSCGADWVFIPECPPDDDWEEHLCRRLSETRTRGSRLNIIIVAEGAIDKNGKPITSEDIKNLVVKRLGYDTRVTVLGHVQRGGTPSAFDRILGSRMGVEAVMALLEGTPDTPACVVSLSGNQAVRLPLMECVQVTKDVTKAMDEKRFDEAIKLRGRSFMNNWEVYKLLAHVRPPVSKGGLHTVAVMNVGAPAAGMNAAVRSTVRIGLIQGNRVLVVHDGFEGLAKGQIEEAGWSYVGGWTGQGGSKLGTKRTLPKKNLEQISANITKFNIQGLVIIGGFEAYTGGLELMEGRKQFDELCIPFVVIPATVSNNVPGSDFSIGADTALNTICTTCDRIKQSAAGTKRRVFIIETMGGYCGYLATMAGLAAGADAAYIFEEPFTIRDLQVNVEHLVQKMKTTVKRGLVLRNEKCNENYTTDFIFNLYSEEGKGIFDSRKNVLGHMQQGGSPTPFDRNFATKMGAKAMNWMSGKIKESYRNGRIFANTPDSGCVLGMRKRALVFQPVTELKDQTDFEHRIPKEQWWLKLRPILKILAKYEIDLDTSDHAHLEHISRKRSGEAAV", "length": 780 }, "evidence": [ { "id": "45925637", "url": "http://www.informatics.jax.org/homology/45925637", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P47858-1", "protein_name": 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"UniProtKB", "id": "P08237", "url": "https://www.uniprot.org/uniprot/P08237" } ], "pmid": "" }, { "name": "monosaccharide binding", "id": "GO:0048029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048029", "evidence": [ { "database": "UniProtKB", "id": "P08237", "url": "https://www.uniprot.org/uniprot/P08237" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 11, "go_terms": [ { "name": "fructose 6-phosphate metabolic process", "id": "GO:0006002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006002", "evidence": [ { "database": "UniProtKB", "id": "P08237", "url": "https://www.uniprot.org/uniprot/P08237" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion", "id": "GO:0032024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032024", "evidence": [ { "database": "UniProtKB", "id": "P08237", "url": "https://www.uniprot.org/uniprot/P08237" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P08237", "url": "https://www.uniprot.org/uniprot/P08237" } ], "pmid": "" }, { "name": "muscle cell cellular homeostasis", "id": "GO:0046716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046716", "evidence": [ { "database": "UniProtKB", "id": "P08237", "url": "https://www.uniprot.org/uniprot/P08237" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P08237", "url": "https://www.uniprot.org/uniprot/P08237" } ], "pmid": "" }, { "name": "glycolytic process", "id": "GO:0006096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006096", "evidence": [ { "database": "UniProtKB", "id": "P08237", "url": "https://www.uniprot.org/uniprot/P08237" } ], "pmid": "" }, { "name": "fructose 1,6-bisphosphate metabolic process", "id": "GO:0030388", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030388", "evidence": [ { "database": "UniProtKB", "id": "P08237", "url": "https://www.uniprot.org/uniprot/P08237" } ], "pmid": "" }, { "name": "canonical glycolysis", "id": "GO:0061621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061621", "evidence": [ { "database": "UniProtKB", "id": "P08237", "url": "https://www.uniprot.org/uniprot/P08237" } ], "pmid": "" }, { "name": "glycolysis from storage polysaccharide through glucose-1-phosphate", "id": "GO:0093001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0093001", "evidence": [ { "database": "UniProtKB", "id": "P08237", "url": "https://www.uniprot.org/uniprot/P08237" } ], "pmid": "" }, { "name": "glycogen catabolic process", "id": "GO:0005980", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005980", "evidence": [ { "database": "UniProtKB", "id": "P08237", "url": "https://www.uniprot.org/uniprot/P08237" } ], "pmid": "" }, { "name": "glycolytic process through fructose-6-phosphate", "id": "GO:0061615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061615", "evidence": [ { "database": "UniProtKB", "id": "P08237", "url": "https://www.uniprot.org/uniprot/P08237" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P08237", "url": "https://www.uniprot.org/uniprot/P08237" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P08237", "url": "https://www.uniprot.org/uniprot/P08237" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P08237", "url": "https://www.uniprot.org/uniprot/P08237" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P08237", "url": "https://www.uniprot.org/uniprot/P08237" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "P08237", "url": "https://www.uniprot.org/uniprot/P08237" } ], "pmid": "" }, { "name": "6-phosphofructokinase complex", "id": "GO:0005945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005945", "evidence": [ { "database": "UniProtKB", "id": "P08237", "url": "https://www.uniprot.org/uniprot/P08237" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P08237", "url": "https://www.uniprot.org/uniprot/P08237" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 484, "end_pos": 486, "annotation": "n_glycosylation_sequon" }, { "start_pos": 634, "end_pos": 636, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "16109", "name": "", "equation": "ATP + beta-D-fructose 6-phosphate = ADP + beta-D-fructose 1,6-bisphosphate + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P47858-1", "P30835-1", "P47860-1", "P08237-1", "P17858-1", "Q01813-1", "Q9WUA3-1", "P12382-1", "P47857-1", "P16861-1", "P16862-1", "P90521-1", "P52034-1" ], "evidence": [ { "id": "16109", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/16109" } ] }, { "id": "R-HSA-70467", "name": "D-fructose 6-phosphate + ATP => D-fructose 1,6-bisphosphate + ADP", "equation": "", "summary": "Cytosolic phosphofructokinase 1 catalyzes the reaction of fructose 6-phosphate and ATP to form fructose 1,6-bisphosphate and ADP. This reaction, irreversible under physiological conditions, is the rate limiting step of glycolysis. Phosphofructokinase 1 activity is allosterically regulated by ATP, citrate, and fructose 2,6-bisphosphate.

Phosphofructokinase 1 is active as a tetramer (although higher order multimers, not annotated here, may form in vivo). Two isoforms of phosphofructokinase 1 monomer, L and M, are widely expressed in human tissues. Different tissues can contain different homotetramers or heterotetramers: L4 in liver, M4 in muscle, and all possible heterotetramers, L4, L3M, L2M2, LM3, and M4, in red blood cells, for example (Raben et al. 1995; Vora et al. 1980, 1987; Vora 1981). 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