{ "uniprot_canonical_ac": "P07902-1", "uniprot_ac": "P07902", "uniprot_id": "GALT_HUMAN", "mass": { "chemical_mass": 43363.0, "monoisotopic_mass": 43363.0 }, "refseq": { "ac": "NP_000146", "name": "galactose-1-phosphate uridylyltransferase isoform 1", "summary": "Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000146" }, "gene_names": [ { "name": "GALT", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P07902", "id": "P07902" }, { "name": "GALT", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000146", "id": "NP_000146" } ], "protein_names": [ { "name": "Galactose-1-phosphate uridylyltransferase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P07902" }, { "name": "2.7.7.12", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07902" }, { "name": "Gal-1-P uridylyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07902" }, { "name": "UDP-glucose--hexose-1-phosphate uridylyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07902" }, { "name": "galactose-1-phosphate uridyl transferase; gal-1-P uridylyltransferase; UDP-glucose--hexose-1-phosphate uridylyltransferase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000146", "id": "NP_000146" }, { "name": "galactose-1-phosphate uridylyltransferase isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000146", "id": "NP_000146" } ], "function": [ { "annotation": "A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.", "evidence": [ { "database": "RefSeq", "id": "NP_000146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000146" }, { "database": "PubMed", "id": "36093991", "url": "https://glygen.org/publication/PubMed/36093991" } ] }, { "annotation": "Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000146" }, { "database": "PubMed", "id": "38139222", "url": "https://glygen.org/publication/PubMed/38139222" } ] }, { "annotation": "Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_000146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000146" } ] }, { "annotation": "Plays an important role in galactose metabolism.", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902#function" }, { "database": "PubMed", "id": "22461411", "url": "https://glygen.org/publication/PubMed/22461411" }, { "database": "PubMed", "id": "27005423", "url": "https://glygen.org/publication/PubMed/27005423" } ] }, { "annotation": "Racial and ethnic diversity of classic and clinical variant galactosemia in the United States.", "evidence": [ { "database": "RefSeq", "id": "NP_000146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000146" }, { "database": "PubMed", "id": "36848716", "url": "https://glygen.org/publication/PubMed/36848716" } ] } ], "disease": [ { "disease_id": "DOID:0111459", "recommended_name": { "id": "DOID:0111459", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111459", "name": "classic galactosemia", "description": "A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in the GALT gene on chromosome 9p13.3." }, "synonyms": [ { "id": "DOID:0111459", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111459", "name": "GALT deficiency", "description": "" }, { "id": "DOID:0111459", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111459", "name": "galactose-1-phosphate uridyltransferase deficiency", "description": "" }, { "id": "DOID:0111459", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111459", "name": "galactosemia type 1", "description": "" }, { "id": "MONDO:0009258", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009258", "name": "classic galactosemia", "description": "Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." }, { "id": "MONDO:0009258", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009258", "name": "GALT deficiency", "description": "" }, { "id": "MONDO:0009258", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009258", "name": "classic galactosemia", "description": "" }, { "id": "MONDO:0009258", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009258", "name": "galactose-1-phosphate uridyltransferase deficiency", "description": "" }, { "id": "MONDO:0009258", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009258", "name": "galactosemia type 1", "description": "" }, { "id": "MONDO:0009258", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009258", "name": "classical galactosemia, homozygous duarte-type", "description": "" }, { "id": "MONDO:0009258", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009258", "name": "Galt deficiency", "description": "" }, { "id": "MONDO:0009258", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009258", "name": "galactose-1-phosphate uridylyltransferase deficiency", "description": "" }, { "id": "MONDO:0009258", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009258", "name": "galactosemia", "description": "" }, { "id": "MONDO:0009258", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009258", "name": "galactosemia, Duarte variant", "description": "" }, { "id": "MONDO:0009258", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009258", "name": "galactosemia, classic", "description": "" }, { "id": "MONDO:0009258", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009258", "name": "transferase deficiency", "description": "" }, { "id": "MIM:230400", "resource": "MIM", "url": "https://www.omim.org/entry/230400", "name": "Galactosemia 1", "description": "Galactosemia 1" } ], "evidence": [ { "id": "230400", "database": "MIM", "url": "https://www.omim.org/entry/230400" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "84.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213930", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213930" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "61.89", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000213930", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213930" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "87.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213930", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213930" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "92.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213930", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213930" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "92.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213930", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213930" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "80.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213930", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213930" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "90.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213930", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213930" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "90.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213930", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213930" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "96.15", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213930", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213930" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "89.26", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213930", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213930" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P07902", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07902" } ], "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 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"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", 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"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": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "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": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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"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": "" 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "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": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P07902", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07902" } ], "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 system cancer that arises in the head or neck region. 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"" }, { "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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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P07902", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07902" } ], "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/P07902" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07902-1", "url": "https://www.uniprot.org/uniprot/P07902-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07902-2", "url": "https://www.uniprot.org/uniprot/P07902-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSRSGTDPQQRQQASEADAAAATFRANDHQHIRYNPLQDEWVLVSAHRMKRPWQGQVEPQLLKTVPRHDPLNPLCPGAIRANGEVNPQYDSTFLFDNDFPALQPDAPSPGPSDHPLFQAKSARGVCKVMCFHPWSDVTLPLMSVPEIRAVVDAWASVTEELGAQYPWVQIFENKGAMMGCSNPHPHCQVWASSFLPDIAQREERSQQAYKSQHGEPLLMEYSRQELLRKERLVLTSEHWLVLVPFWATWPYQTLLLPRRHVRRLPELTPAERDDLASIMKKLLTKYDNLFETSFPYSMGWHGAPTGSEAGANWNHWQLHAHYYPPLLRSATVRKFMVGYEMLAQAQRDLTPEQAAERLRALPEVHYHLGQKDRETATIA", "length": 379, "header": "sp|P07902-1|GALT_HUMAN Isoform 1 of Galactose-1-phosphate uridylyltransferase OS=Homo sapiens OX=9606 GN=GALT PE=1 SV=3 CANONICAL=P07902-1" }, "isoforms": [ { "isoform_ac": "F2Z2X9-1", "url": "", "sequence": { "sequence": "MSRSGTDPQQRQQASEADAAAATFRANDHQHIRYNPLQDEWVLVSAHRMKRPWQGQVEPQLLKTVPRHDPLNPLCPGAIRANGELCSLMPPVQDPVIIPFSKQSLLEESVRSCASTPGRM", "length": 120, "header": "tr|F2Z2X9-1|GALT_HUMAN Computationally mapped isoform of Galactose-1-phosphate uridylyltransferase OS=Homo sapiens OX=9606 GN=GALT PE=1 SV=1 CANONICAL=P07902-1" }, "locus": { "chromosome": "9", "start_pos": 34647863, "end_pos": 34646705, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000473506.6", "url": "https://www.ensembl.org/id/ENST00000473506.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000432839.2", "url": "https://www.ensembl.org/id/ENSP00000432839.2" } ] } }, { "isoform_ac": "G3V223-1", "url": "", "sequence": { "sequence": "MSRSGTDPQQRQQASEADAAAATFRANDHQHIRYNPLQDEWVLVSAHRMKRPWQGQVEPQLLKTVPRHDPLNPLCPGAIRANGEPILVGR", "length": 90, "header": "tr|G3V223-1|G3V223_HUMAN Computationally mapped isoform of Galactose-1-phosphate uridylyltransferase OS=Homo sapiens OX=9606 GN=GALT PE=4 SV=1 CANONICAL=P07902-1" }, "locus": { "chromosome": "9", "start_pos": 34647492, "end_pos": 34646705, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000554085.5", "url": "https://www.ensembl.org/id/ENST00000554085.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000450419.1", "url": "https://www.ensembl.org/id/ENSP00000450419.1" } ] } }, { "isoform_ac": "G3V3U5-1", "url": "", "sequence": { "sequence": "MSRSGTDPQQRQQASEADAAAATFRANDHQHIRYNPLQDEWVLVSAHRMKRPWQGQVEPQLLKTVPRHDPLNPLCPGAIRANGE", "length": 84, "header": "tr|G3V3U5-1|G3V3U5_HUMAN Computationally mapped isoform of Galactose-1-phosphate uridylyltransferase OS=Homo sapiens OX=9606 GN=GALT PE=4 SV=1 CANONICAL=P07902-1" }, "locus": { "chromosome": "9", "start_pos": 34647258, "end_pos": 34646705, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000554897.5", "url": "https://www.ensembl.org/id/ENST00000554897.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000450942.1", "url": "https://www.ensembl.org/id/ENSP00000450942.1" } ] } }, { "isoform_ac": "H0YJL3-1", "url": "", "sequence": { "sequence": "XEWVLVSAHRMKRPWQGQVEPQLLKTVPRHDPLNPLCPGAIRANGEGGPSLLPCSLSSL", "length": 59, "header": "tr|H0YJL3-1|GALT_HUMAN Computationally mapped isoform of Galactose-1-phosphate uridylyltransferase OS=Homo sapiens OX=9606 GN=GALT PE=1 SV=1 CANONICAL=P07902-1" }, "locus": { "chromosome": "9", "start_pos": 34647429, "end_pos": 34647123, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000556244.1", "url": "https://www.ensembl.org/id/ENST00000556244.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000451756.1", "url": "https://www.ensembl.org/id/ENSP00000451756.1" } ] } }, { "isoform_ac": "P07902-1", "url": "", "sequence": { "sequence": "MSRSGTDPQQRQQASEADAAAATFRANDHQHIRYNPLQDEWVLVSAHRMKRPWQGQVEPQLLKTVPRHDPLNPLCPGAIRANGEVNPQYDSTFLFDNDFPALQPDAPSPGPSDHPLFQAKSARGVCKVMCFHPWSDVTLPLMSVPEIRAVVDAWASVTEELGAQYPWVQIFENKGAMMGCSNPHPHCQVWASSFLPDIAQREERSQQAYKSQHGEPLLMEYSRQELLRKERLVLTSEHWLVLVPFWATWPYQTLLLPRRHVRRLPELTPAERDDLASIMKKLLTKYDNLFETSFPYSMGWHGAPTGSEAGANWNHWQLHAHYYPPLLRSATVRKFMVGYEMLAQAQRDLTPEQAAERLRALPEVHYHLGQKDRETATIA", "length": 379, "header": "sp|P07902-1|GALT_HUMAN Isoform 1 of Galactose-1-phosphate uridylyltransferase OS=Homo sapiens OX=9606 GN=GALT PE=1 SV=3 CANONICAL=P07902-1" }, "locus": { "chromosome": "9", "start_pos": 34650446, "end_pos": 34646705, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000378842.8", "url": "https://www.ensembl.org/id/ENST00000378842.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000368119.4", "url": "https://www.ensembl.org/id/ENSP00000368119.4" } ] } }, { "isoform_ac": "P07902-2", "url": "", "sequence": { "sequence": "MTLSTLCVLGPSEPTESKVMCFHPWSDVTLPLMSVPEIRAVVDAWASVTEELGAQYPWVQIFENKGAMMGCSNPHPHCQVWASSFLPDIAQREERSQQAYKSQHGEPLLMEYSRQELLRKERLVLTSEHWLVLVPFWATWPYQTLLLPRRHVRRLPELTPAERDDLASIMKKLLTKYDNLFETSFPYSMGWHGAPTGSEAGANWNHWQLHAHYYPPLLRSATVRKFMVGYEMLAQAQRDLTPEQAAERLRALPEVHYHLGQKDRETATIA", "length": 270, "header": "sp|P07902-2|GALT_HUMAN Isoform 2 of Galactose-1-phosphate uridylyltransferase OS=Homo sapiens OX=9606 GN=GALT PE=1 SV=3 CANONICAL=P07902-1" }, "locus": { "chromosome": "9", "start_pos": 34650446, "end_pos": 34647209, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000450095.6", "url": "https://www.ensembl.org/id/ENST00000450095.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000401956.2", "url": "https://www.ensembl.org/id/ENSP00000401956.2" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. Mutation in brief no. 235. Online.", "journal": "Human mutation", "date": "1999", "authors": "Seyrantepe V, Ozguc M, Coskun T, Ozalp I, Reichardt JK", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "reference": [ { "type": "PubMed", "id": "10220154", "url": "https://glygen.org/publication/PubMed/10220154" } ] }, { "title": "Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.", "journal": "Human mutation", "date": "1999", "authors": "Tyfield L, Reichardt J, Fridovich-Keil J, Croke D T, Elsas L J, Strobl W, Kozak L, Coskun T, Novelli G, Okano Y, Zekanowski C, Shin Y, Boleda M D", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "reference": [ { "type": "PubMed", "id": "10408771", "url": "https://glygen.org/publication/PubMed/10408771" } ] }, { "title": "A case-control study of galactose consumption and metabolism in relation to ovarian cancer.", "journal": "Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology", "date": "2000", "authors": "Cramer DW, Greenberg ER, Titus-Ernstoff L, Liberman RF, Welch WR, Li E, Ng WG", "evidence": [ { "database": "Entrez", "id": "2592", "url": "https://www.ncbi.nlm.nih.gov/gene/2592" } ], "reference": [ { "type": "PubMed", "id": "10667469", "url": "https://glygen.org/publication/PubMed/10667469" } ] }, { "title": "Crystallographic evidence for Tyr 157 functioning as the active site base in human UDP-galactose 4-epimerase.", "journal": "Biochemistry", "date": "2000", "authors": "Thoden JB, Wohlers TM, Fridovich-Keil JL, Holden HM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70370" } ], "reference": [ { "type": "PubMed", "id": "10801319", "url": "https://glygen.org/publication/PubMed/10801319" } ] }, { "title": "Molecular analysis in newborns from Texas affected with galactosemia.", "journal": "Human mutation", "date": "2002", "authors": "Yang YP, Corley N, Garcia-Heras J", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "reference": [ { "type": "PubMed", "id": "11754113", "url": "https://glygen.org/publication/PubMed/11754113" } ] }, { "title": "Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test.", "journal": "Pediatric research", "date": "2002", "authors": "Item C, Hagerty BP, Muhl A, Greber-Platzer S, Stockler-Ipsiroglu S, Strobl W", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "reference": [ { "type": "PubMed", "id": "11919338", "url": "https://glygen.org/publication/PubMed/11919338" } ] }, { "title": "Galactose-1-phosphate uridyl transferase (GALT) genotype and phenotype, galactose consumption, and the risk of borderline and invasive ovarian cancer (United States).", "journal": "Cancer causes & control : CCC", "date": "2002", "authors": "Cozen W, Peters R, Reichardt JK, Ng W, Felix JC, Wan P, Pike MC", "evidence": [ { "database": "Entrez", "id": "2592", "url": "https://www.ncbi.nlm.nih.gov/gene/2592" } ], "reference": [ { "type": "PubMed", "id": "11936817", "url": "https://glygen.org/publication/PubMed/11936817" } ] }, { "title": "Association of galactose-1-phosphate uridyltransferase activity and N314D genotype with the risk of ovarian cancer.", "journal": "American journal of epidemiology", "date": "2002", "authors": "Goodman MT, Wu AH, Tung KH, McDuffie K, Cramer DW, Wilkens LR, Terada K, Reichardt JK, Ng WG", "evidence": [ { "database": "Entrez", "id": "2592", "url": "https://www.ncbi.nlm.nih.gov/gene/2592" } ], "reference": [ { "type": "PubMed", "id": "12370157", "url": "https://glygen.org/publication/PubMed/12370157" } ] }, { "title": "The N314D polymorphism of galactose-1-phosphate uridyl transferase does not modify the risk of ovarian cancer.", "journal": "Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology", "date": "2003", "authors": "Fung WL, Risch H, McLaughlin J, Rosen B, Cole D, Vesprini D, Narod SA", "evidence": [ { "database": "Entrez", "id": "2592", "url": "https://www.ncbi.nlm.nih.gov/gene/2592" } ], "reference": [ { "type": "PubMed", "id": "12869412", "url": "https://glygen.org/publication/PubMed/12869412" } ] }, { "title": "Genetic basis of galactosemia.", "journal": "Hum. Mutat.", "date": "1992", "authors": "Reichardt JK", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "reference": [ { "type": "PubMed", "id": "1301925", "url": "https://glygen.org/publication/PubMed/1301925" } ] }, { "title": "Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia.", "journal": "Genomics", "date": "1992", "authors": "Reichardt JK, Belmont JW, Levy HL, Woo SL", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "reference": [ { "type": "PubMed", "id": "1373122", "url": "https://glygen.org/publication/PubMed/1373122" } ] }, { "title": "The human galactose-1-phosphate uridyltransferase gene.", "journal": "Genomics", "date": "1992", "authors": "Leslie ND, Immerman EB, Flach JE, Florez M, Fridovich-Keil JL, Elsas LJ", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "reference": [ { "type": "PubMed", "id": "1427861", "url": "https://glygen.org/publication/PubMed/1427861" } ] }, { "title": "Determinants of function and substrate specificity in human UDP-galactose 4'-epimerase.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Schulz JM, Watson AL, Sanders R, Ross KL, Thoden JB, Holden HM, Fridovich-Keil JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-70370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70370" } ], "reference": [ { "type": "PubMed", "id": "15175331", "url": "https://glygen.org/publication/PubMed/15175331" } ] }, { "title": "Identification of novel mutations in classical galactosemia.", "journal": "Human mutation", "date": "2005", "authors": "Bosch AM, Ijlst L, Oostheim W, Mulders J, Bakker HD, Wijburg FA, Wanders RJ, Waterham HR", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "reference": [ { "type": "PubMed", "id": "15841485", "url": "https://glygen.org/publication/PubMed/15841485" } ] }, { "title": "Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.", "journal": "Biochemistry", "date": "1992", "authors": "Reichardt JK, Levy HL, Woo SL", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "reference": [ { "type": "PubMed", "id": "1610789", "url": "https://glygen.org/publication/PubMed/1610789" } ] }, { "title": "Mutational spectrum of classical galactosaemia in Spain and Portugal.", "journal": "Journal of inherited metabolic disease", "date": "2006", "authors": "Gort L, Boleda MD, Tyfield L, Vilarinho L, Rivera I, Cardoso ML, Santos-Leite M, Giros M, Briones P", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "reference": [ { "type": "PubMed", "id": "17041746", "url": "https://glygen.org/publication/PubMed/17041746" } ] }, { "title": "Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene.", "journal": "Journal of inherited metabolic disease", "date": "2007", "authors": "Calderon FR, Nelson L, Dobrowolski P, Sinitsyna I, Phansalkar A, Longo N, Pasquali M, Mao R", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "reference": [ { "type": "PubMed", "id": "17876724", "url": "https://glygen.org/publication/PubMed/17876724" } ] }, { "title": "Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.", "journal": "Journal of inherited metabolic disease", "date": "2008", "authors": "Velazquez-Aragon J, Alcantara-Ortigoza MA, Vela-Amieva M, Monroy S, Martinez-Cruz V, Todd-Quinones C, Gonzalez-del Angel A", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "reference": [ { "type": "PubMed", "id": "18956253", "url": "https://glygen.org/publication/PubMed/18956253" } ] }, { "title": "Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.", "journal": "American journal of human genetics", "date": "1991", "authors": "Reichardt JK, Packman S, Woo SL", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" }, { "database": "Reactome", "id": "R-HSA-5609978", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5609978" } ], "reference": [ { "type": "PubMed", "id": "1897530", "url": "https://glygen.org/publication/PubMed/1897530" } ] }, { "title": "Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1991", "authors": "Reichardt JK, Woo SL", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" }, { "database": "Reactome", "id": "R-HSA-70370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70370" } ], "reference": [ { "type": "PubMed", "id": "2011574", "url": "https://glygen.org/publication/PubMed/2011574" } ] }, { "title": "Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase.", "journal": "Mol. Biol. Med.", "date": "1990", "authors": "Flach J E, Reichardt J K, Elsas L J", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "reference": [ { "type": "PubMed", "id": "2233247", "url": "https://glygen.org/publication/PubMed/2233247" } ] }, { "title": "Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene.", "journal": "Human mutation", "date": "2012", "authors": "Tang M, Facchiano A, Rachamadugu R, Calderon F, Mao R, Milanesi L, Marabotti A, Lai K", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "reference": [ { "type": "PubMed", "id": "22461411", "url": "https://glygen.org/publication/PubMed/22461411" } ] }, { "title": "Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel mutations and their structural and functional implications.", "journal": "Clinica chimica acta; international journal of clinical chemistry", "date": "2012", "authors": "Singh R, Thapa BR, Kaur G, Prasad R", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "reference": [ { "type": "PubMed", "id": "23022339", "url": "https://glygen.org/publication/PubMed/23022339" } ] }, { "title": "Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia.", "journal": "Biochimica et biophysica acta", "date": "2013", "authors": "McCorvie TJ, Gleason TJ, Fridovich-Keil JL, Timson DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5609978", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5609978" } ], "reference": [ { "type": "PubMed", "id": "23583749", "url": "https://glygen.org/publication/PubMed/23583749" } ] }, { "title": "Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene.", "journal": "Gene", "date": "2015", "authors": "Viggiano E, Marabotti A, Burlina AP, Cazzorla C, D'Apice MR, Giordano L, Fasan I, Novelli G, Facchiano A, Burlina AB", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "reference": [ { "type": "PubMed", "id": "25592817", "url": "https://glygen.org/publication/PubMed/25592817" } ] }, { "title": "Functional and structural impact of the most prevalent missense mutations in classic galactosemia.", "journal": "Molecular genetics & genomic medicine", "date": "2014", "authors": "Coelho AI, Trabuco M, Ramos R, Silva MJ, Tavares de Almeida I, Leandro P, Rivera I, Vicente JB", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "reference": [ { "type": "PubMed", "id": "25614870", "url": "https://glygen.org/publication/PubMed/25614870" } ] }, { "title": "Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.", "journal": "Human molecular genetics", "date": "2016", "authors": "McCorvie TJ, Kopec J, Pey AL, Fitzpatrick F, Patel D, Chalk R, Shrestha L, Yue WW", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "reference": [ { "type": "PubMed", "id": "27005423", "url": "https://glygen.org/publication/PubMed/27005423" } ] }, { "title": "Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase.", "journal": "Mol. Biol. 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J. Hum. Genet.", "date": "1995", "authors": "Elsas L J, Langley S, Steele E, Evinger J, Fridovich-Keil J L, Brown A, Singh R, Fernhoff P, Hjelm L N, Dembure P P", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "reference": [ { "type": "PubMed", "id": "7887416", "url": "https://glygen.org/publication/PubMed/7887416" } ] }, { "title": "Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family.", "journal": "American journal of human genetics", "date": "1995", "authors": "Fridovich-Keil JL, Langley SD, Mazur LA, Lennon JC, Dembure PP, Elsas JL 2nd", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "reference": [ { "type": "PubMed", "id": "7887417", "url": "https://glygen.org/publication/PubMed/7887417" } ] }, { "title": "On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).", "journal": "Human genetics", "date": "1994", "authors": "Lin HC, Kirby LT, Ng WG, Reichardt JK", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "reference": [ { "type": "PubMed", "id": "8112740", "url": "https://glygen.org/publication/PubMed/8112740" } ] }, { "title": "A common mutation associated with the Duarte galactosemia allele.", "journal": "American journal of human genetics", "date": "1994", "authors": "Elsas LJ, Dembure PP, Langley S, Paulk EM, Hjelm LN, Fridovich-Keil J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5609978", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5609978" } ], "reference": [ { "type": "PubMed", "id": "8198125", "url": "https://glygen.org/publication/PubMed/8198125" } ] }, { "title": "Molecular characterization of the H319Q galactosemia mutation.", "journal": "Human molecular genetics", "date": "1993", "authors": "Reichardt JK, Novelli G, Dallapiccola B", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "reference": [ { "type": "PubMed", "id": "8499924", "url": "https://glygen.org/publication/PubMed/8499924" } ] }, { "title": "A prevalent mutation for galactosemia among black Americans.", "journal": "The Journal of pediatrics", "date": "1996", "authors": "Lai K, Langley SD, Singh RH, Dembure PP, Hjelm LN, Elsas LJ 2nd", "evidence": [ { "database": "Reactome", "id": "R-HSA-5609978", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5609978" } ], "reference": [ { "type": "PubMed", "id": "8551426", "url": "https://glygen.org/publication/PubMed/8551426" } ] }, { "title": "Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants.", "journal": "Journal of inherited metabolic disease", "date": "1995", "authors": "Sommer M, Gathof BS, Podskarbi T, Giugliani R, Kleinlein B, Shin YS", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "reference": [ { "type": "PubMed", "id": "8598637", "url": "https://glygen.org/publication/PubMed/8598637" } ] }, { "title": "Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia.", "journal": "European journal of pediatrics", "date": "1996", "authors": "Shin YS, Gathof BS, Podskarbi T, Sommer M, Giugliani R, Gresser U", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "reference": [ { "type": "PubMed", "id": "8741038", "url": "https://glygen.org/publication/PubMed/8741038" } ] }, { "title": "Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle.", "journal": "Journal of neurology", "date": "1996", "authors": "Ninfali P, Bresolin N, Dallapiccola B, Novelli G", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "reference": [ { "type": "PubMed", "id": "8869397", "url": "https://glygen.org/publication/PubMed/8869397" } ] }, { "title": "Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency.", "journal": "Human mutation", "date": "1996", "authors": "Maceratesi P, Sangiuolo F, Novelli G, Ninfali P, Magnani M, Reichardt JK, Dallapiccola B", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "reference": [ { "type": "PubMed", "id": "8956044", "url": "https://glygen.org/publication/PubMed/8956044" } ] }, { "title": "Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.", "journal": "Human mutation", "date": "1997", "authors": "Greber-Platzer S, Guldberg P, Scheibenreiter S, Item C, Schuller E, Patel N, Strobl W", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "reference": [ { "type": "PubMed", "id": "9222760", "url": "https://glygen.org/publication/PubMed/9222760" } ] }, { "title": "Mutation of galactose-1-phosphate uridyl transferase and its association with ovarian cancer and endometriosis.", "journal": "International journal of cancer", "date": "1998", "authors": "Morland SJ, Jiang X, Hitchcock A, Thomas EJ, Campbell IG", "evidence": [ { "database": "Entrez", "id": "2592", "url": "https://www.ncbi.nlm.nih.gov/gene/2592" } ], "reference": [ { "type": "PubMed", "id": "9714048", "url": "https://glygen.org/publication/PubMed/9714048" } ] } ], "pathway": [ { "id": "hsa:2592", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2592", "resource": "KEGG Pathway" }, { "id": "R-HSA-5609978", "name": "Defective GALT can cause GALCT", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5609978", "resource": "Reactome", "description": "Defective GALT can cause GALCT" }, { "id": "R-HSA-70370", "name": "Galactose catabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70370", "resource": "Reactome", "description": "Galactose catabolism" } ], "orthologs": [ { "uniprot_canonical_ac": "P08431-1", "protein_name": "Galactose-1-phosphate uridylyltransferase", "gene_name": "GAL7", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MTAEEFDFSSHSHRRYNPLTDSWILVSPHRAKRPWLGQQEAAYKPTAPLYDPKCYLCPGNKRATGNLNPRYESTYIFPNDYAAVRLDQPILPQNDSNEDNLKNRLLKVQSVRGNCFVICFSPNHNLTIPQMKQSDLVHIVNSWQALTDDLSREARENHKPFKYVQIFENKGTAMGCSNLHPHGQAWCLESIPSEVSQELKSFDKYKREHNTDLFADYVKLESREKSRVVVENESFIVVVPYWAIWPFETLVISKKKLASISQFNQMVKEDLASILKQLTIKYDNLFETSFPYSMGIHQAPLNATGDELSNSWFHMHFYPPLLRSATVRKFLVGFELLGEPQRDLTSEQAAEKLRNLDGQIHYLQRL", "length": 366 }, "evidence": [ { "id": "P07902", "url": "https://omabrowser.org/oma/group/P07902/", "database": "OMA" } ], "common_name": "Yeast" 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"database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "galactose catabolic process via UDP-galactose", "id": "GO:0033499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033499", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "pmid": "" }, { "name": "galactose catabolic process", "id": "GO:0019388", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019388", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "pmid": "" }, { "name": "UDP-glucose metabolic process", "id": "GO:0006011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006011", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "pmid": "" }, { "name": "galactose metabolic process", "id": "GO:0006012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006012", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P07902", "url": "https://www.uniprot.org/uniprot/P07902" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "13989", "name": "", "equation": "alpha-D-galactose 1-phosphate + UDP-alpha-D-glucose = alpha-D-glucose 1-phosphate + UDP-alpha-D-galactose", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P43424-1", "P07902-1", "Q03249-1", "P08431-1", "Q9VMA2-1" ], "evidence": [ { "id": "13989", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/13989" } ] }, { "id": "R-HSA-5610038", "name": "Defective GALT does not transfer UMP to Gal1P", "equation": "", "summary": "Galactose-1-phosphate uridylyltransferase (GALT) is one of the enzymes involved in galactose metabolism in the Leloir pathway. GALT catalyses the transfer of uridine monophosphate (UMP) from UDP-glucose (UDP-Glc) to galactose-1-phosphate (Gal1P) to form UDP-galactose (UDP-Gal). Defects in GALT can cause Galactosemia (GALCT; MIM:230400), an autosomal recessive disorder of galactose metabolism presenting in neonatals that causes jaundice, cataracts, and mental retardation. Q188R, K285N are the most common mutations in US Caucasians (Reichardt et al. 1991, Elsas et al. 1994). S135L is the most common mutation of the American black population (Lai et al. 1996). Protein misfolding is likely to be the underlying molecular cause in the majority of cases (McCorvie et al. 2013).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P07902-1" ], "evidence": [ { "id": "R-HSA-5610038", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610038" } ] }, { "id": "R-HSA-70361", "name": "GALT transfers UMP from UDP-Glc to Gal1P to form UDP-Gal", "equation": "", "summary": "Cytosolic galactose-1-phosphate uridylyltransferase (GALT) catalyzes the reaction of alpha-D-galactose 1-phosphate and UDP glucose to form D-glucose 1-phosphate and UDP galactose (Reichardt & Woo 1991).", "cellular_location": "cytosol", "input_participant_list": [ "R-ALL-30170" ], "output_participant_list": [], "enzyme_list": [ "P07902-1" ], "evidence": [ { "id": "R-HSA-70361", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70361" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-30170", "participant_name": "Gal1P [cytosol]", "crossref": [ { "id": "C00446", "database": "COMPOUND", "url": "" }, { "id": "17973", "database": "ChEBI", "url": "" }, { "id": "HMDB0000645", "database": "HMDB Metabolite", "url": "" }, { "id": "8145198", "database": "PubChem Substance", "url": "" }, { "id": "000004096092", "database": "ZINC", "url": "" }, { "id": "C00446", "database": "COMPOUND", "url": "" }, { "id": "17973", "database": "ChEBI", "url": "" }, { "id": "HMDB0000645", "database": "HMDB Metabolite", "url": "" }, { "id": "8145198", "database": "PubChem Substance", "url": "" }, { "id": "000004096092", "database": "ZINC", "url": "" }, { "id": "8145198", "database": "PubChem Substance", "url": "" }, { "id": "17973", "database": "ChEBI", "url": "" }, { "id": "C00446", "database": "COMPOUND", "url": "" }, { "id": "HMDB0000645", "database": "HMDB Metabolite", "url": "" }, { "id": "000004096092", "database": "ZINC", "url": "" }, { "id": "HMDB0000645", "database": "HMDB Metabolite", "url": "" }, { "id": "C00446", "database": "COMPOUND", "url": "" }, { "id": "000004096092", "database": "ZINC", "url": "" }, { "id": "17973", "database": "ChEBI", "url": "" }, { "id": "8145198", "database": "PubChem Substance", "url": "" }, { "id": "C00446", "database": "COMPOUND", "url": "" }, { "id": "17973", "database": "ChEBI", "url": "" }, { "id": "HMDB0000645", "database": "HMDB Metabolite", "url": "" }, { "id": "8145198", "database": "PubChem Substance", "url": "" }, { "id": "000004096092", "database": "ZINC", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "P07902", "gene_name": "GALT", "activity": [ { "ec_number": "2.7.7.12", "activity": "alpha-D-galactose 1-phosphate + UDP-alpha-D-glucose = alpha-D-glucose 1-phosphate + UDP-alpha-D-galactose.", "evidence": [ { "id": "P07902", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07902" } ] }, { "ec_number": "2.7.7.12", "activity": "", "evidence": [ { "id": "P07902", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07902" } ] } ] }, { "uniprot_ac": "P08431", "gene_name": "GAL7", "activity": [ { "ec_number": "2.7.7.12", "activity": "alpha-D-galactose 1-phosphate + UDP-alpha-D-glucose = alpha-D-glucose 1-phosphate + UDP-alpha-D-galactose.", "evidence": [ { "id": "P08431", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08431" } ] }, { "ec_number": "2.7.7.12", "activity": "", "evidence": [ { "id": "P08431", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08431" } ] } ] }, { "uniprot_ac": "P43424", "gene_name": "Galt", "activity": [ { "ec_number": "2.7.7.12", "activity": "alpha-D-galactose 1-phosphate + UDP-alpha-D-glucose = alpha-D-glucose 1-phosphate + UDP-alpha-D-galactose.", "evidence": [ { "id": "P43424", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43424" } ] }, { "ec_number": "2.7.7.12", "activity": "", "evidence": [ { "id": "P43424", "database": "UniProtKB", "url": 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