{ "uniprot_canonical_ac": "Q9NSA1-1", "uniprot_ac": "Q9NSA1", "uniprot_id": "FGF21_HUMAN", "mass": { "chemical_mass": 22300.0, "monoisotopic_mass": 22300.0 }, "refseq": { "ac": "NP_061986", "name": "fibroblast growth factor 21 precursor", "summary": "Theis gene encodes a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes. This protein is a secreted endocrine factor that functions as a major metabolic regulator. The encoded protein stimulates the uptake of glucose in adipose tissue. [provided by RefSeq, Mar 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061986" }, "gene_names": [ { "name": "FGF21", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9NSA1", "id": "Q9NSA1" }, { "name": "FGF21", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061986", "id": "NP_061986" }, { "name": "PRO10196", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9NSA1", "id": "Q9NSA1" } ], "protein_names": [ { "name": "Fibroblast growth factor 21", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9NSA1" }, { "name": "FGF-21", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9NSA1" }, { "name": "fibroblast growth factor 21 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061986", "id": "NP_061986" } ], "function": [ { "annotation": "Assessment of fibroblast growth factor 21 in children with type 1 diabetes mellitus in relation to microvascular complications.", "evidence": [ { "database": "RefSeq", "id": "NP_061986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061986" }, { "database": "PubMed", "id": "37728457", "url": "https://glygen.org/publication/PubMed/37728457" } ] }, { "annotation": "FGF21 prevents neuronal cell ferroptosis after spinal cord injury by activating the FGFR1/beta-Klotho pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_061986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061986" }, { "database": "PubMed", "id": "37660729", "url": "https://glygen.org/publication/PubMed/37660729" } ] }, { "annotation": "Fluctuations of serum fibroblast growth factor-21 levels in prolonged fasting in male adults.", "evidence": [ { "database": "RefSeq", "id": "NP_061986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061986" }, { "database": "PubMed", "id": "37739649", "url": "https://glygen.org/publication/PubMed/37739649" } ] }, { "annotation": "Klotho beta functions as a cofactor essential for FGF21 activity", "evidence": [ { "database": "RefSeq", "id": "NP_061986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061986" }, { "database": "PubMed", "id": "17452648", "url": "https://glygen.org/publication/PubMed/17452648" } ] }, { "annotation": "MiR-26b-5p promotes osteogenesis of bone mesenchymal stem cells via suppressing FGF21.", "evidence": [ { "database": "RefSeq", "id": "NP_061986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061986" }, { "database": "PubMed", "id": "37746951", "url": "https://glygen.org/publication/PubMed/37746951" } ] }, { "annotation": "Stimulates glucose uptake in differentiated adipocytes via the induction of glucose transporter SLC2A1/GLUT1 expression (but not SLC2A4/GLUT4 expression). Activity requires the presence of KLB. Regulates systemic glucose homeostasis and insulin sensitivity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NSA1", "url": "https://www.uniprot.org/uniprot/Q9NSA1#function" }, { "database": "PubMed", "id": "15902306", "url": "https://glygen.org/publication/PubMed/15902306" }, { "database": "UniProtKB", "id": "Q9JJN1", "url": "https://www.uniprot.org/uniprot/Q9JJN1#function" }, { "database": "PubMed", "id": "17623664", "url": "https://glygen.org/publication/PubMed/17623664" } ] }, { "annotation": "Theis gene encodes a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes. This protein is a secreted endocrine factor that functions as a major metabolic regulator. The encoded protein stimulates the uptake of glucose in adipose tissue. [provided by RefSeq, Mar 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_061986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061986" } ] }, { "annotation": "When administered daily for 6 wk to diabetic rhesus monkeys, FGF-21 caused a dramatic decline in fasting plasma glucose, fructosamine, triglycerides, insulin, and glucagon.", "evidence": [ { "database": "RefSeq", "id": "NP_061986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061986" }, { "database": "PubMed", "id": "17068132", "url": "https://glygen.org/publication/PubMed/17068132" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "40.25", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000105550", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105550" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "61.64", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105550", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105550" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "34.51", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000105550", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105550" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "73.7", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105550", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105550" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000105550", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105550" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "16.94", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000105550", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105550" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "67.72", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105550", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105550" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "41.77", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105550", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105550" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "22.78", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000105550", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105550" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "66.39", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105550", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105550" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "71.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105550", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105550" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "20.17", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000105550", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105550" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "26.08", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000105550", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105550" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q9NSA1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NSA1" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q9NSA1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NSA1" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { 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{ "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "Q9NSA1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NSA1" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": 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"MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "Q9NSA1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NSA1" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NSA1" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"https://glygen.org/publication/PubMed/10821868" } ] }, { "title": "Identification of a novel FGF, FGF-21, preferentially expressed in the liver.", "journal": "Biochim. Biophys. Acta", "date": "2000", "authors": "Nishimura T, Nakatake Y, Konishi M, Itoh N", "evidence": [ { "database": "UniProtKB", "id": "Q9NSA1", "url": "https://www.uniprot.org/uniprot/Q9NSA1" } ], "reference": [ { "type": "PubMed", "id": "10858549", "url": "https://glygen.org/publication/PubMed/10858549" } ] }, { "title": "Cloning and expression analysis of a novel member of the facilitative glucose transporter family, SLC2A9 (GLUT9).", "journal": "Genomics", "date": "2000", "authors": "Phay JE, Hussain HB, Moley JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "10860667", "url": "https://glygen.org/publication/PubMed/10860667" } ] }, { "title": "The proprotein convertases furin and PACE4 play a significant role in tumor progression.", "journal": "Molecular carcinogenesis", "date": "2000", "authors": "Bassi DE, Mahloogi H, Klein-Szanto AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "10900462", "url": "https://glygen.org/publication/PubMed/10900462" } ] }, { "title": "Activity and genomic organization of human glucose transporter 9 (GLUT9), a novel member of the family of sugar-transport facilitators predominantly expressed in brain and leucocytes.", "journal": "The Biochemical journal", "date": "2000", "authors": "Doege H, Bocianski A, Joost HG, Schurmann A", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "10970791", "url": "https://glygen.org/publication/PubMed/10970791" } ] }, { "title": "A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity.", "journal": "Human genetics", "date": "1999", "authors": "Burwinkel B, Sanjad SA, Al-Sabban E, Al-Abbad A, Kilimann MW", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "10987651", "url": "https://glygen.org/publication/PubMed/10987651" } ] }, { "title": "Renal Na(+)-glucose cotransporters.", "journal": "American journal of physiology. Renal physiology", "date": "2001", "authors": "Wright EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "11133510", "url": "https://glygen.org/publication/PubMed/11133510" } ] }, { "title": "Identification and characterization of prostein, a novel prostate-specific protein.", "journal": "Cancer research", "date": "2001", "authors": "Xu J, Kalos M, Stolk JA, Zasloff EJ, Zhang X, Houghton RL, Filho AM, Nolasco M, Badaro R, Reed SG", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "11245466", "url": "https://glygen.org/publication/PubMed/11245466" } ] }, { "title": "Molecular cloning of a novel member of the GLUT family of transporters, SLC2a10 (GLUT10), localized on chromosome 20q13.1: a candidate gene for NIDDM susceptibility.", "journal": "Genomics", "date": "2001", "authors": "McVie-Wylie AJ, Lamson DR, Chen YT", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "11247674", "url": "https://glygen.org/publication/PubMed/11247674" } ] }, { "title": "The predicted ATP-binding domains in the hexose transporter GLUT1 critically affect transporter activity.", "journal": "Biochemistry", "date": "2001", "authors": "Liu Q, Vera JC, Peng H, Golde DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "11425315", "url": "https://glygen.org/publication/PubMed/11425315" } ] }, { "title": "Characterization of human glucose transporter (GLUT) 11 (encoded by SLC2A11), a novel sugar-transport facilitator specifically expressed in heart and skeletal muscle.", "journal": "The Biochemical journal", "date": "2001", "authors": "Doege H, Bocianski A, Scheepers A, Axer H, Eckel J, Joost HG, Schurmann A", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "11583593", "url": "https://glygen.org/publication/PubMed/11583593" } ] }, { "title": "Structural analysis of the GLUT1 facilitative glucose transporter (review).", "journal": "Molecular membrane biology", "date": "2001", "authors": "Hruz PW, Mueckler MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "11681785", "url": "https://glygen.org/publication/PubMed/11681785" } ] }, { "title": "Molecular cloning of a member of the facilitative glucose transporter gene family GLUT11 (SLC2A11) and identification of transcription variants.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Sasaki T, Minoshima S, Shiohama A, Shintani A, Shimizu A, Asakawa S, Kawasaki K, Shimizu N", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "11741323", "url": "https://glygen.org/publication/PubMed/11741323" } ] }, { "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-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "11780755", "url": "https://glygen.org/publication/PubMed/11780755" } ] }, { "title": "Identification of a novel glucose transporter-like protein-GLUT-12.", "journal": "American journal of physiology. Endocrinology and metabolism", "date": "2002", "authors": "Rogers S, Macheda ML, Docherty SE, Carty MD, Henderson MA, Soeller WC, Gibbs EM, James DE, Best JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "11832379", "url": "https://glygen.org/publication/PubMed/11832379" } ] }, { "title": "Regulated transport of the glucose transporter GLUT4.", "journal": "Nature reviews. Molecular cell biology", "date": "2002", "authors": "Bryant NJ, Govers R, James DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "11994746", "url": "https://glygen.org/publication/PubMed/11994746" } ] }, { "title": "GLUT14, a duplicon of GLUT3, is specifically expressed in testis as alternative splice forms.", "journal": "Genomics", "date": "2002", "authors": "Wu X, Freeze HH", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "12504846", "url": "https://glygen.org/publication/PubMed/12504846" } ] }, { "title": "Cloning and characterization of a novel Na+-dependent glucose transporter (NaGLT1) in rat kidney.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Horiba N, Masuda S, Takeuchi A, Takeuchi D, Okuda M, Inui K", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "12590146", "url": "https://glygen.org/publication/PubMed/12590146" } ] }, { "title": "Functional asymmetry of the human Na+/glucose transporter (hSGLT1) in bacterial membrane vesicles.", "journal": "Biochemistry", "date": "2003", "authors": "Quick M, Tomasevic J, Wright EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "12885248", "url": "https://glygen.org/publication/PubMed/12885248" } ] }, { "title": "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.", "journal": "Genome Res.", "date": "2003", "authors": "Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A", "evidence": [ { "database": "UniProtKB", "id": "Q9NSA1", "url": "https://www.uniprot.org/uniprot/Q9NSA1" } ], "reference": [ { "type": "PubMed", "id": "12975309", "url": "https://glygen.org/publication/PubMed/12975309" } ] }, { "title": "Human hepatic lipase mutations and polymorphisms.", "journal": "Human mutation", "date": "1992", "authors": "Hegele RA, Tu L, Connelly PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "1301939", "url": "https://glygen.org/publication/PubMed/1301939" } ] }, { "title": "Cloning of a human kidney cDNA with similarity to the sodium-glucose cotransporter.", "journal": "The American journal of physiology", "date": "1992", "authors": "Wells RG, Pajor AM, Kanai Y, Turk E, Wright EM, Hediger MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "1415574", "url": "https://glygen.org/publication/PubMed/1415574" } ] }, { "title": "Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria.", "journal": "Human genetics", "date": "2004", "authors": "Calado J, Soto K, Clemente C, Correia P, Rueff J", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "14614622", "url": "https://glygen.org/publication/PubMed/14614622" } ] }, { "title": "Identification and characterization of human glucose transporter-like protein-9 (GLUT9): alternative splicing alters trafficking.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Augustin R, Carayannopoulos MO, Dowd LO, Phay JE, Moley JF, Moley KH", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "14739288", "url": "https://glygen.org/publication/PubMed/14739288" } ] }, { "title": "Identification of an HLA-A*0201-restricted T-cell epitope derived from the prostate cancer-associated protein prostein.", "journal": "British journal of cancer", "date": "2004", "authors": "Kiessling A, Stevanovic S, Fussel S, Weigle B, Rieger MA, Temme A, Rieber EP, Schmitz M", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "14997204", "url": "https://glygen.org/publication/PubMed/14997204" } ] }, { "title": "Cloning and functional characterization of the human GLUT7 isoform SLC2A7 from the small intestine.", "journal": "American journal of physiology. Gastrointestinal and liver physiology", "date": "2004", "authors": "Li Q, Manolescu A, Ritzel M, Yao S, Slugoski M, Young JD, Chen XZ, Cheeseman CI", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "15033637", "url": "https://glygen.org/publication/PubMed/15033637" } ] }, { "title": "Hepatic lipase, lipoprotein metabolism, and atherogenesis.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "2004", "authors": "Santamarina-Fojo S, Gonzalez-Navarro H, Freeman L, Wagner E, Nong Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "15284087", "url": "https://glygen.org/publication/PubMed/15284087" } ] }, { "title": "Signal peptide prediction based on analysis of experimentally verified cleavage sites.", "journal": "Protein Sci.", "date": "2004", "authors": "Zhang Z, Henzel WJ", "evidence": [ { "database": "UniProtKB", "id": "Q9NSA1", "url": "https://www.uniprot.org/uniprot/Q9NSA1" } ], "reference": [ { "type": "PubMed", "id": "15340161", "url": "https://glygen.org/publication/PubMed/15340161" } ] }, { "title": "SLC5A9/SGLT4, a new Na+-dependent glucose transporter, is an essential transporter for mannose, 1,5-anhydro-D-glucitol, and fructose.", "journal": "Life sciences", "date": "2005", "authors": "Tazawa S, Yamato T, Fujikura H, Hiratochi M, Itoh F, Tomae M, Takemura Y, Maruyama H, Sugiyama T, Wakamatsu A, Isogai T, Isaji M", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "15607332", "url": "https://glygen.org/publication/PubMed/15607332" } ] }, { "title": "The liver-enriched transcription factor CREB-H is a growth suppressor protein underexpressed in hepatocellular carcinoma.", "journal": "Nucleic acids research", "date": "2005", "authors": "Chin KT, Zhou HJ, Wong CM, Lee JM, Chan CP, Qiang BQ, Yuan JG, Ng IO, Jin DY", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "15800215", "url": "https://glygen.org/publication/PubMed/15800215" } ] }, { "title": "FGF-21 as a novel metabolic regulator.", "journal": "J. Clin. Invest.", "date": "2005", "authors": "Kharitonenkov A, Shiyanova TL, Koester A, Ford AM, Micanovic R, Galbreath EJ, Sandusky GE, Hammond LJ, Moyers JS, Owens RA, Gromada J, Brozinick JT, Hawkins ED, Wroblewski VJ, Li DS, Mehrbod F, Jaskunas SR, Shanafelt AB", "evidence": [ { "database": "UniProtKB", "id": "Q9NSA1", "url": "https://www.uniprot.org/uniprot/Q9NSA1" }, { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "15902306", "url": "https://glygen.org/publication/PubMed/15902306" } ] }, { "title": "Proprotein convertases [corrected] are responsible for proteolysis and inactivation of endothelial lipase.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Jin W, Fuki IV, Seidah NG, Benjannet S, Glick JM, Rader DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "16109723", "url": "https://glygen.org/publication/PubMed/16109723" } ] }, { "title": "Characterization of the human SLC2A11 (GLUT11) gene: alternative promoter usage, function, expression, and subcellular distribution of three isoforms, and lack of mouse orthologue.", "journal": "Molecular membrane biology", "date": "2005", "authors": "Scheepers A, Schmidt S, Manolescu A, Cheeseman CI, Bell A, Zahn C, Joost HG, Schurmann A", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "16154905", "url": "https://glygen.org/publication/PubMed/16154905" } ] }, { "title": "Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.", "journal": "Nature genetics", "date": "2006", "authors": "Coucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, Fox JE, Mancini GM, Kambouris M, Gardella R, Facchetti F, Willems PJ, Forsyth R, Dietz HC, Barlati S, Colombi M, Loeys B, De Paepe A", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "16550171", "url": "https://glygen.org/publication/PubMed/16550171" } ] }, { "title": "Sergliflozin, a novel selective inhibitor of low-affinity sodium glucose cotransporter (SGLT2), validates the critical role of SGLT2 in renal glucose reabsorption and modulates plasma glucose level.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2007", "authors": "Katsuno K, Fujimori Y, Takemura Y, Hiratochi M, Itoh F, Komatsu Y, Fujikura H, Isaji M", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "17050778", "url": "https://glygen.org/publication/PubMed/17050778" } ] }, { "title": "The metabolic state of diabetic monkeys is regulated by fibroblast growth factor-21.", "journal": "Endocrinology", "date": "2007", "authors": "Kharitonenkov A, Wroblewski VJ, Koester A, Chen YF, Clutinger CK, Tigno XT, Hansen BC, Shanafelt AB, Etgen GJ", "evidence": [ { "database": "RefSeq", "id": "NP_061986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061986" } ], "reference": [ { "type": "PubMed", "id": "17068132", "url": "https://glygen.org/publication/PubMed/17068132" } ] }, { "title": "Angiopoietin-like protein 4 converts lipoprotein lipase to inactive monomers and modulates lipase activity in adipose tissue.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Sukonina V, Lookene A, Olivecrona T, Olivecrona G", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "17088546", "url": "https://glygen.org/publication/PubMed/17088546" } ] }, { "title": "BetaKlotho is required for metabolic activity of fibroblast growth factor 21.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Ogawa Y, Kurosu H, Yamamoto M, Nandi A, Rosenblatt KP, Goetz R, Eliseenkova AV, Mohammadi M, Kuro-o M", "evidence": [ { "database": "RefSeq", "id": "NP_061986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061986" } ], "reference": [ { "type": "PubMed", "id": "17452648", "url": "https://glygen.org/publication/PubMed/17452648" } ] }, { "title": "Molecular scanning of insulin-responsive glucose transporter (GLUT4) gene in NIDDM subjects.", "journal": "Diabetes", "date": "1991", "authors": "Choi WH, O'Rahilly S, Buse JB, Rees A, Morgan R, Flier JS, Moller DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "1756912", "url": "https://glygen.org/publication/PubMed/1756912" } ] }, { "title": "Tissue-specific expression of betaKlotho and fibroblast growth factor (FGF) receptor isoforms determines metabolic activity of FGF19 and FGF21.", "journal": "J. Biol. Chem.", "date": "2007", "authors": "Kurosu H, Choi M, Ogawa Y, Dickson AS, Goetz R, Eliseenkova AV, Mohammadi M, Rosenblatt KP, Kliewer SA, Kuro-o M", "evidence": [ { "database": "UniProtKB", "id": "Q9NSA1", "url": "https://www.uniprot.org/uniprot/Q9NSA1" } ], "reference": [ { "type": "PubMed", "id": "17623664", "url": "https://glygen.org/publication/PubMed/17623664" } ] }, { "title": "Structural basis of GLUT1 inhibition by cytoplasmic ATP.", "journal": "The Journal of general physiology", "date": "2007", "authors": "Blodgett DM, De Zutter JK, Levine KB, Karim P, Carruthers A", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "17635959", "url": "https://glygen.org/publication/PubMed/17635959" } ] }, { "title": "Homozygous missense mutation (G56R) in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650).", "journal": "Lipids in health and disease", "date": "2007", "authors": "Wang J, Hegele RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "17883852", "url": "https://glygen.org/publication/PubMed/17883852" } ] }, { "title": "Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia.", "journal": "Nature genetics", "date": "2007", "authors": "Peterfy M, Ben-Zeev O, Mao HZ, Weissglas-Volkov D, Aouizerat BE, Pullinger CR, Frost PH, Kane JP, Malloy MJ, Reue K, Pajukanta P, Doolittle MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "17994020", "url": "https://glygen.org/publication/PubMed/17994020" } ] }, { "title": "Normal binding of lipoprotein lipase, chylomicrons, and apo-AV to GPIHBP1 containing a G56R amino acid substitution.", "journal": "Biochimica et biophysica acta", "date": "2007", "authors": "Gin P, Beigneux AP, Davies B, Young MF, Ryan RO, Bensadoun A, Fong LG, Young SG", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "17997385", "url": "https://glygen.org/publication/PubMed/17997385" } ] }, { "title": "Inhibitor binding in the human renal low- and high-affinity Na+/glucose cotransporters.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2008", "authors": "Pajor AM, Randolph KM, Kerner SA, Smith CD", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "18063724", "url": "https://glygen.org/publication/PubMed/18063724" } ] }, { "title": "SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout.", "journal": "Nature genetics", "date": "2008", "authors": "Vitart V, Rudan I, Hayward C, Gray NK, Floyd J, Palmer CN, Knott SA, Kolcic I, Polasek O, Graessler J, Wilson JF, Marinaki A, Riches PL, Shu X, Janicijevic B, Smolej-Narancic N, Gorgoni B, Morgan J, Campbell S, Biloglav Z, Barac-Lauc L, Pericic M, Klaric IM, Zgaga L, Skaric-Juric T, Wild SH, Richardson WA, Hohenstein P, Kimber CH, Tenesa A, Donnelly LA, Fairbanks LD, Aringer M, McKeigue PM, Ralston SH, Morris AD, Rudan P, Hastie ND, Campbell H, Wright AF", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "18327257", "url": "https://glygen.org/publication/PubMed/18327257" } ] }, { "title": "C-terminal tail of FGF19 determines its specificity toward Klotho co-receptors.", "journal": "J. Biol. Chem.", "date": "2008", "authors": "Wu X, Lemon B, Li X, Gupte J, Weiszmann J, Stevens J, Hawkins N, Shen W, Lindberg R, Chen JL, Tian H, Li Y", "evidence": [ { "database": "UniProtKB", "id": "Q9NSA1", "url": "https://www.uniprot.org/uniprot/Q9NSA1" } ], "reference": [ { "type": "PubMed", "id": "18829467", "url": "https://glygen.org/publication/PubMed/18829467" } ] }, { "title": "Different roles of N- and C- termini in the functional activity of FGF21.", "journal": "J. Cell. Physiol.", "date": "2009", "authors": "Dickinson C.D., Bina H.A., Driver D.A., Dunbar J.D., Kharitonenkov A., Micanovic R., Raches D.W.", "evidence": [ { "database": "UniProtKB", "id": "Q9NSA1", "url": "https://www.uniprot.org/uniprot/Q9NSA1" } ], "reference": [ { "type": "PubMed", "id": "19117008", "url": "https://glygen.org/publication/PubMed/19117008" } ] }, { "title": "Analysis of the gene sequences of the insulin receptor and the insulin-sensitive glucose transporter (GLUT-4) in patients with common-type non-insulin-dependent diabetes mellitus.", "journal": "The Journal of clinical investigation", "date": "1991", "authors": "Kusari J, Verma US, Buse JB, Henry RR, Olefsky JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "1918382", "url": "https://glygen.org/publication/PubMed/1918382" } ] }, { "title": "Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "2009", "authors": "Beigneux AP, Franssen R, Bensadoun A, Gin P, Melford K, Peter J, Walzem RL, Weinstein MM, Davies BS, Kuivenhoven JA, Kastelein JJ, Fong LG, Dallinga-Thie GM, Young SG", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "19304573", "url": "https://glygen.org/publication/PubMed/19304573" } ] }, { "title": "IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response.", "journal": "American journal of human genetics", "date": "2009", "authors": "Oeffner F, Fischer G, Happle R, Konig A, Betz RC, Bornholdt D, Neidel U, Boente Mdel C, Redler S, Romero-Gomez J, Salhi A, Vera-Casano A, Weirich C, Grzeschik KH", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "19361614", "url": "https://glygen.org/publication/PubMed/19361614" } ] }, { "title": "Lipase maturation factor LMF1, membrane topology and interaction with lipase proteins in the endoplasmic reticulum.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Doolittle MH, Neher SB, Ben-Zeev O, Ling-Liao J, Gallagher CM, Hosseini M, Yin F, Wong H, Walter P, Peterfy M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "19783858", "url": "https://glygen.org/publication/PubMed/19783858" } ] }, { "title": "Fibroblast growth factor signalling: from development to cancer.", "journal": "Nat. Rev. Cancer", "date": "2010", "authors": "Turner N, Grose R", "evidence": [ { "database": "UniProtKB", "id": "Q9NSA1", "url": "https://www.uniprot.org/uniprot/Q9NSA1" } ], "reference": [ { "type": "PubMed", "id": "20094046", "url": "https://glygen.org/publication/PubMed/20094046" } ] }, { "title": "N-linked glycosylation is required for optimal proteolytic activation of membrane-bound transcription factor CREB-H.", "journal": "Journal of cell science", "date": "2010", "authors": "Chan CP, Mak TY, Chin KT, Ng IO, Jin DY", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "20356926", "url": "https://glygen.org/publication/PubMed/20356926" } ] }, { "title": "Angiopoietin-like protein 3 inhibits lipoprotein lipase activity through enhancing its cleavage by proprotein convertases.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Liu J, Afroza H, Rader DJ, Jin W", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "20581395", "url": "https://glygen.org/publication/PubMed/20581395" } ] }, { "title": "SGLT2 mediates glucose reabsorption in the early proximal tubule.", "journal": "Journal of the American Society of Nephrology : JASN", "date": "2011", "authors": "Vallon V, Platt KA, Cunard R, Schroth J, Whaley J, Thomson SC, Koepsell H, Rieg T", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "20616166", "url": "https://glygen.org/publication/PubMed/20616166" } ] }, { "title": "Sugar transporters for intercellular exchange and nutrition of pathogens.", "journal": "Nature", "date": "2010", "authors": "Chen LQ, Hou BH, Lalonde S, Takanaga H, Hartung ML, Qu XQ, Guo WJ, Kim JG, Underwood W, Chaudhuri B, Chermak D, Antony G, White FF, Somerville SC, Mudgett MB, Frommer WB", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "21107422", "url": "https://glygen.org/publication/PubMed/21107422" } ] }, { "title": "Lipase maturation factor 1 is required for endothelial lipase activity.", "journal": "Journal of lipid research", "date": "2011", "authors": "Ben-Zeev O, Hosseini M, Lai CM, Ehrhardt N, Wong H, Cefalu AB, Noto D, Averna MR, Doolittle MH, Peterfy M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "21447484", "url": "https://glygen.org/publication/PubMed/21447484" } ] }, { "title": "The transcription factor cyclic AMP-responsive element-binding protein H regulates triglyceride metabolism.", "journal": "Nature medicine", "date": "2011", "authors": "Lee JH, Giannikopoulos P, Duncan SA, Wang J, Johansen CT, Brown JD, Plutzky J, Hegele RA, Glimcher LH, Lee AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "21666694", "url": "https://glygen.org/publication/PubMed/21666694" } ] }, { "title": "A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism.", "journal": "Science (New York, N.Y.)", "date": "2011", "authors": "Marschner K, Kollmann K, Schweizer M, Braulke T, Pohl S", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "21719679", "url": "https://glygen.org/publication/PubMed/21719679" } ] }, { "title": "GPIHBP1, an endothelial cell transporter for lipoprotein lipase.", "journal": "Journal of lipid research", "date": "2011", "authors": "Young SG, Davies BS, Voss CV, Gin P, Weinstein MM, Tontonoz P, Reue K, Bensadoun A, Fong LG, Beigneux AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "21844202", "url": "https://glygen.org/publication/PubMed/21844202" } ] }, { "title": "Structural selectivity of human SGLT inhibitors.", "journal": "American journal of physiology. Cell physiology", "date": "2012", "authors": "Hummel CS, Lu C, Liu J, Ghezzi C, Hirayama BA, Loo DD, Kepe V, Barrio JR, Wright EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "21940664", "url": "https://glygen.org/publication/PubMed/21940664" } ] }, { "title": "Functional characterisation of human SGLT-5 as a novel kidney-specific sodium-dependent sugar transporter.", "journal": "FEBS letters", "date": "2012", "authors": "Grempler R, Augustin R, Froehner S, Hildebrandt T, Simon E, Mark M, Eickelmann P", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "22212718", "url": "https://glygen.org/publication/PubMed/22212718" } ] }, { "title": "The role of CREB-H transcription factor in triglyceride metabolism.", "journal": "Current opinion in lipidology", "date": "2012", "authors": "Lee AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "22262056", "url": "https://glygen.org/publication/PubMed/22262056" } ] }, { "title": "miR-32 and its target SLC45A3 regulate the lipid metabolism of oligodendrocytes and myelin.", "journal": "Neuroscience", "date": "2012", "authors": "Shin D, Howng SY, Ptacek LJ, Fu YH", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "22521588", "url": "https://glygen.org/publication/PubMed/22521588" } ] }, { "title": "Identification of RIFL, a novel adipocyte-enriched insulin target gene with a role in lipid metabolism.", "journal": "American journal of physiology. Endocrinology and metabolism", "date": "2012", "authors": "Ren G, Kim JY, Smas CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "22569073", "url": "https://glygen.org/publication/PubMed/22569073" } ] }, { "title": "Cleavage of endometrial alpha-integrins into their functional forms is mediated by proprotein convertase 5/6.", "journal": "Human reproduction (Oxford, England)", "date": "2012", "authors": "Paule S, Aljofan M, Simon C, Rombauts LJ, Nie G", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "22740495", "url": "https://glygen.org/publication/PubMed/22740495" } ] }, { "title": "Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 and the intravascular processing of triglyceride-rich lipoproteins.", "journal": "Journal of internal medicine", "date": "2012", "authors": "Adeyo O, Goulbourne CN, Bensadoun A, Beigneux AP, Fong LG, Young SG", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "23020258", "url": "https://glygen.org/publication/PubMed/23020258" } ] }, { "title": "Atypical angiopoietin-like protein that regulates ANGPTL3.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2012", "authors": "Quagliarini F, Wang Y, Kozlitina J, Grishin NV, Hyde R, Boerwinkle E, Valenzuela DM, Murphy AJ, Cohen JC, Hobbs HH", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "23150577", "url": "https://glygen.org/publication/PubMed/23150577" } ] }, { "title": "Regulation of lipoprotein lipase by Angptl4.", "journal": "Trends in endocrinology and metabolism: TEM", "date": "2014", "authors": "Dijk W, Kersten S", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "24397894", "url": "https://glygen.org/publication/PubMed/24397894" } ] }, { "title": "Purification, cellular levels, and functional domains of lipase maturation factor 1.", "journal": "Biochemical and biophysical research communications", "date": "2014", "authors": "Babilonia-Rosa MA, Neher SB", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "24909692", "url": "https://glygen.org/publication/PubMed/24909692" } ] }, { "title": "Angiopoietin-like proteins 3, 4 and 8: regulating lipid metabolism and providing new hope for metabolic syndrome.", "journal": "Journal of drug targeting", "date": "2014", "authors": "Li Y, Teng C", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "24960069", "url": "https://glygen.org/publication/PubMed/24960069" } ] }, { "title": "GPIHBP1 missense mutations often cause multimerization of GPIHBP1 and thereby prevent lipoprotein lipase binding.", "journal": "Circulation research", "date": "2015", "authors": "Beigneux AP, Fong LG, Bensadoun A, Davies BS, Oberer M, Gardsvoll H, Ploug M, Young SG", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "25387803", "url": "https://glygen.org/publication/PubMed/25387803" } ] }, { "title": "Cloning and characterization of the major insulin-responsive glucose transporter expressed in human skeletal muscle and other insulin-responsive tissues.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Fukumoto H, Kayano T, Buse JB, Edwards Y, Pilch PF, Bell GI, Seino S", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "2656669", "url": "https://glygen.org/publication/PubMed/2656669" } ] }, { "title": "GLUT, SGLT, and SWEET: Structural and mechanistic investigations of the glucose transporters.", "journal": "Protein science : a publication of the Protein Society", "date": "2016", "authors": "Deng D, Yan N", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "26650681", "url": "https://glygen.org/publication/PubMed/26650681" } ] }, { "title": "Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease.", "journal": "The New England journal of medicine", "date": "2016", "authors": "Dewey FE, Gusarova V, O'Dushlaine C, Gottesman O, Trejos J, Hunt C, Van Hout CV, Habegger L, Buckler D, Lai KM, Leader JB, Murray MF, Ritchie MD, Kirchner HL, Ledbetter DH, Penn J, Lopez A, Borecki IB, Overton JD, Reid JG, Carey DJ, Murphy AJ, Yancopoulos GD, Baras A, Gromada J, Shuldiner AR", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "26933753", "url": "https://glygen.org/publication/PubMed/26933753" } ] }, { "title": "Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease.", "journal": "The New England journal of medicine", "date": "2016", "authors": "Stitziel NO, Stirrups KE, Masca NG, Erdmann J, Ferrario PG, Konig IR, Weeke PE, Webb TR, Auer PL, Schick UM, Lu Y, Zhang H, Dube MP, Goel A, Farrall M, Peloso GM, Won HH, Do R, van Iperen E, Kanoni S, Kruppa J, Mahajan A, Scott RA, Willenberg C, Braund PS, van Capelleveen JC, Doney AS, Donnelly LA, Asselta R, Merlini PA, Duga S, Marziliano N, Denny JC, Shaffer CM, El-Mokhtari NE, Franke A, Gottesman O, Heilmann S, Hengstenberg C, Hoffman P, Holmen OL, Hveem K, Jansson JH, Jockel KH, Kessler T, Kriebel J, Laugwitz KL, Marouli E, Martinelli N, McCarthy MI, Van Zuydam NR, Meisinger C, Esko T, Mihailov E, Escher SA, Alver M, Moebus S, Morris AD, Muller-Nurasyid M, Nikpay M, Olivieri O, Lemieux Perreault LP, AlQarawi A, Robertson NR, Akinsanya KO, Reilly DF, Vogt TF, Yin W, Asselbergs FW, Kooperberg C, Jackson RD, Stahl E, Strauch K, Varga TV, Waldenberger M, Zeng L, Kraja AT, Liu C, Ehret GB, Newton-Cheh C, Chasman DI, Chowdhury R, Ferrario M, Ford I, Jukema JW, Kee F, Kuulasmaa K, Nordestgaard BG, Perola M, Saleheen D, Sattar N, Surendran P, Tregouet D, Young R, Howson JM, Butterworth AS, Danesh J, Ardissino D, Bottinger EP, Erbel R, Franks PW, Girelli D, Hall AS, Hovingh GK, Kastrati A, Lieb W, Meitinger T, Kraus WE, Shah SH, McPherson R, Orho-Melander M, Melander O, Metspalu A, Palmer CN, Peters A, Rader D, Reilly MP, Loos RJ, Reiner AP, Roden DM, Tardif JC, Thompson JR, Wareham NJ, Watkins H, Willer CJ, Kathiresan S, Deloukas P, Samani NJ, Schunkert H", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "26934567", "url": "https://glygen.org/publication/PubMed/26934567" } ] }, { "title": "The Genetics of Dyslipidemia--When Less Is More.", "journal": "The New England journal of medicine", "date": "2016", "authors": "Kersten S", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963889" } ], "reference": [ { "type": "PubMed", "id": "26934667", "url": "https://glygen.org/publication/PubMed/26934667" } ] }, { "title": "FGF21 prevents neuronal cell ferroptosis after spinal cord injury by activating the FGFR1/\u03b2-Klotho pathway.", 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