{ "uniprot_canonical_ac": "P07864-1", "uniprot_ac": "P07864", "uniprot_id": "LDHC_HUMAN", "mass": { "chemical_mass": 36311.0, "monoisotopic_mass": 36311.0 }, "refseq": { "ac": "NP_002292", "name": "L-lactate dehydrogenase C chain", "summary": "Lactate dehydrogenase C catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. LDHC is testis-specific and belongs to the lactate dehydrogenase family. Two transcript variants have been detected which differ in the 5' untranslated region. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002292" }, "gene_names": [ { "name": "LDHC", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P07864", "id": "P07864" }, { "name": "CT32; LDH3; LDHX", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002292", "id": "NP_002292" }, { "name": "LDH3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P07864", "id": "P07864" }, { "name": "LDHC", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002292", "id": "NP_002292" }, { "name": "LDHX", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P07864", "id": "P07864" }, { "name": "hCG_15532", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P07864", "id": "P07864" } ], "protein_names": [ { "name": "L-lactate dehydrogenase C chain", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P07864" }, { "name": "1.1.1.27", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07864" }, { "name": "CT32", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07864" }, { "name": "Cancer/testis antigen 32", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07864" }, { "name": "L-lactate dehydrogenase C chain", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002292", "id": "NP_002292" }, { "name": "LDH testis subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07864" }, { "name": "LDH-C", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07864" }, { "name": "LDH-X", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07864" }, { "name": "cancer/testis antigen 32; lactate dehydrogenase C4; LDH-C; LDH-X; LDH testis subunit; testis secretory sperm-binding protein Li 234P", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002292", "id": "NP_002292" } ], "function": [ { "annotation": "A novel association between the methylation status of CpG sites within LDHC and the development of insulin autoantibodies in the first years of life", "evidence": [ { "database": "RefSeq", "id": "NP_002292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002292" }, { "database": "PubMed", "id": "29224923", "url": "https://glygen.org/publication/PubMed/29224923" } ] }, { "annotation": "Association between serum lactate dehydrogenase and 60-day mortality in Chinese Hakka patients with acute myeloid leukemia: A cohort study.", "evidence": [ { "database": "RefSeq", "id": "NP_002292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002292" }, { "database": "PubMed", "id": "34708888", "url": "https://glygen.org/publication/PubMed/34708888" } ] }, { "annotation": "Diagnostic and prognostic value of the cancer-testis antigen lactate dehydrogenase C4 in breast cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_002292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002292" }, { "database": "PubMed", "id": "31794764", "url": "https://glygen.org/publication/PubMed/31794764" } ] }, { "annotation": "Lactate dehydrogenase C catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. LDHC is testis-specific and belongs to the lactate dehydrogenase family. Two transcript variants have been detected which differ in the 5' untranslated region. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_002292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002292" } ] }, { "annotation": "Possible role in sperm motility.", "evidence": [ { "database": "UniProtKB", "id": "P07864", "url": "https://www.uniprot.org/uniprot/P07864#function" }, { "database": "UniProtKB", "id": "F5H5G7", "url": "https://www.uniprot.org/uniprot/F5H5G7#function" }, { "database": "UniProtKB", "id": "ARBA00037359", "url": "https://www.uniprot.org/uniprot/ARBA00037359#function" }, { "database": "UniProtKB", "id": "F5H245", "url": "https://www.uniprot.org/uniprot/F5H245#function" }, { "database": "UniProtKB", "id": "G3XAP5", "url": "https://www.uniprot.org/uniprot/G3XAP5#function" }, { "database": "UniProtKB", "id": "F5GZ11", "url": "https://www.uniprot.org/uniprot/F5GZ11#function" }, { "database": "UniProtKB", "id": "F5H155", "url": "https://www.uniprot.org/uniprot/F5H155#function" } ] }, { "annotation": "Targeting of lactate dehydrogenase C dysregulates the cell cycle and sensitizes breast cancer cells to DNA damage response targeted therapy.", "evidence": [ { "database": "RefSeq", "id": "NP_002292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002292" }, { "database": "PubMed", "id": "34050611", "url": "https://glygen.org/publication/PubMed/34050611" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "55.87", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166796", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166796" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "56.79", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166796", "url": 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"score": "48.15", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166796", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166796" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "62.58", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166796", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166796" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "46.21", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166796", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166796" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "53.47", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166796", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166796" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "52.81", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166796", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166796" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P07864", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07864" } ], "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": 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"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": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P07864", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07864" } ], "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": "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "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": "P07864", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07864" } ], "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": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "P07864", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07864" } ], "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. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P07864", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07864" } ], "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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"MSTVKEQLIEKLIEDDENSQCKITIVGTGAVGMACAISILLKDLADELALVDVALDKLKGEMMDLQHGSLFFSTSKITSGKDYSVSANSRIVIVTAGARQQEGETRLALVQRNVAIMKSIIPAIVHYSPDCKILVVSNPVDILTYIVWKISGLPVTRVIGSGCNLDSARFRYLIGEKLGVHPTSCHGWIIGEHGDSSVPLWSGVNVAGVALKTLDPKLGTDSDKEHWKNIHKQVIQSAYEIIKLKGYTSWAIGLSVMDLVGSILKNLRRVHPVSTMVKGLYGIKEELFLSIPCVLGRNGVSDVVKINLNSEEEALFKKSAETLWNIQKDLIF", "length": 332, "header": "sp|P07864-1|LDHC_HUMAN Isoform 1 of L-lactate dehydrogenase C chain OS=Homo sapiens OX=9606 GN=LDHC PE=1 SV=4 CANONICAL=P07864-1" }, "isoforms": [ { "isoform_ac": "F5GWS6-1", "url": "", "sequence": { "sequence": "MSTVKEQLIEKLIEDDENSQCKITIVGTGAVGMACAISILLKWIF", "length": 45, "header": "tr|F5GWS6-1|F5GWS6_HUMAN Computationally mapped isoform of Lactate dehydrogenase C OS=Homo sapiens OX=9606 GN=LDHC PE=1 SV=1 CANONICAL=P07864-1" }, "locus": { "chromosome": "11", "start_pos": 18434748, "end_pos": 18412718, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000539369.1", "url": "https://www.ensembl.org/id/ENST00000539369.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000441991.1", "url": "https://www.ensembl.org/id/ENSP00000441991.1" } ] } }, { "isoform_ac": "F5GZ11-1", "url": "", "sequence": { "sequence": "MSTVKEQLIEKLIEDDENSQCKITIVGTGAVGMACAISILLKDLADELALVDVALDKLKGEMMDLQHGSLFFSTSKITSGKDYSVSANSRIVIVTAGARQQEGETRLALVQRNVAIMKSIIPAIVHYSPDCKILVVSNPGIIWNKRRTLSQYPLCLGAEWCLRCCEN", "length": 167, "header": "tr|F5GZ11-1|F5GZ11_HUMAN Computationally mapped isoform of L-lactate dehydrogenase C chain OS=Homo sapiens OX=9606 GN=LDHC PE=1 SV=1 CANONICAL=P07864-1" }, "locus": { "chromosome": "11", "start_pos": 18451045, "end_pos": 18412718, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000537486.5", "url": "https://www.ensembl.org/id/ENST00000537486.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000441478.1", "url": "https://www.ensembl.org/id/ENSP00000441478.1" } ] } }, { "isoform_ac": "F5H155-1", "url": "", "sequence": { "sequence": "MSTVKEQLIEKLIEDDENSQCKITIVGTGAVGMACAISILLKDLADELALVDVALDKLKGEMMDLQHGSLFFSTSKITSGKDYSVSANSRIVIVTAGARQQEGETRLALVQRNVAIMKSIIPAIVHYSPDCKILVVSNPVDILTYIVWKISGLPVTRVIGSGCNLDSARFRYLIGEKLGVHPTSCHGWIIGEHGDSSGIIWNKRRTLSQYPLCLGAEWCLRCCEN", "length": 225, "header": "tr|F5H155-1|F5H155_HUMAN Computationally mapped isoform of L-lactate dehydrogenase OS=Homo sapiens OX=9606 GN=LDHC PE=1 SV=1 CANONICAL=P07864-1" }, "locus": { "chromosome": "11", "start_pos": 18451045, "end_pos": 18412718, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000535809.1", "url": "https://www.ensembl.org/id/ENST00000535809.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000443997.1", "url": "https://www.ensembl.org/id/ENSP00000443997.1" } ] } }, { "isoform_ac": "F5H245-1", "url": "", "sequence": { "sequence": "MSTVKEQLIEKLIEDDENSQCKITIVGTGAVGMACAISILLKDLADELALVDVALDKLKGEMMDLQHGSLFFSTSKITSGKAGARQQEGETRLALVQRNVAIMKSIIPAIVHYSPDCKILVVSNPVDILTYIVWKISGLPVTRVIGSGCNLDSARFRYLIGEKLGVHPTSCHGWIIGEHGDSSVPLWSGVNVAGVALKTLDPKLGTDSDKEHWKNIHKQVIQSAYEIIKLKGYTSWAIGLSVMDLVGSILKNLRRVHPVSTMVKGLYGIKEELFLSIPCVLGRNGVSDVVKINLNSEEEALFKKSAETLWNIQKDLIF", "length": 318, "header": "tr|F5H245-1|F5H245_HUMAN Computationally mapped isoform of L-lactate dehydrogenase OS=Homo sapiens OX=9606 GN=LDHC PE=1 SV=1 CANONICAL=P07864-1" }, "locus": { "chromosome": "11", "start_pos": 18451124, "end_pos": 18412718, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000536880.5", "url": "https://www.ensembl.org/id/ENST00000536880.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000439555.1", "url": "https://www.ensembl.org/id/ENSP00000439555.1" } ] } }, { "isoform_ac": "F5H326-1", "url": "", "sequence": { "sequence": "MSTVKEQLIEKLIEDDENSQCKITIVGTGAVGMACAISILLKITVYLQTPE", "length": 51, "header": "tr|F5H326-1|F5H326_HUMAN Computationally mapped isoform of Lactate dehydrogenase C OS=Homo sapiens OX=9606 GN=LDHC PE=1 SV=1 CANONICAL=P07864-1" }, "locus": { "chromosome": "11", "start_pos": 18429763, "end_pos": 18412718, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000396215.7", "url": "https://www.ensembl.org/id/ENST00000396215.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000379518.3", "url": "https://www.ensembl.org/id/ENSP00000379518.3" } ] } }, { "isoform_ac": "F5H5G7-1", "url": "", "sequence": { "sequence": "MSTVKEQLIEKLIEDDENSQCKITIVGTGAVGMACAISILLKDLADELALVDVALDKLKGEMMDLQHGSLFFSTSKITSGKVDILTYIVWKISGLPVTRVIGSGCNLDSARFRYLIGEKLGVHPTSCHGWIIGEHGDSSVPLWSGVNVAGVALKTLDPKLGTDSDKEHWKNIHKQVIQRDYME", "length": 183, "header": "tr|F5H5G7-1|F5H5G7_HUMAN Computationally mapped isoform of L-lactate dehydrogenase OS=Homo sapiens OX=9606 GN=LDHC PE=1 SV=1 CANONICAL=P07864-1" }, "locus": { "chromosome": "11", "start_pos": 18450975, "end_pos": 18412718, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000546146.5", "url": "https://www.ensembl.org/id/ENST00000546146.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000443414.1", "url": "https://www.ensembl.org/id/ENSP00000443414.1" } ] } }, { "isoform_ac": "G3XAP5-1", "url": "", "sequence": { "sequence": "MSTVKEQLIEKLIEDDENSQCKITIVGTGAVGMACAISILLKDLADELALVDVALDKLKGEMMDLQHGSLFFSTSKITSGKDYSVSANSRIVIVTAGARQQEGETRLALVQRNVAIMKSIIPAIVHYSPDCKILVVSNPVDILTYIVWKISGLPVTRVIGSGCNLDSARFRYLIGEKLGVHPTSCHGWIIGEHGDSSVPLWSGVNVAGVALKTLDPKLGTDSDKEHWKNIHKQVIQRDYME", "length": 241, "header": "tr|G3XAP5-1|G3XAP5_HUMAN Computationally mapped isoform of L-lactate dehydrogenase OS=Homo sapiens OX=9606 GN=LDHC PE=1 SV=1 CANONICAL=P07864-1" }, "locus": { "chromosome": "11", "start_pos": 18450975, "end_pos": 18412718, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000544105.5", "url": "https://www.ensembl.org/id/ENST00000544105.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000439060.1", "url": "https://www.ensembl.org/id/ENSP00000439060.1" } ] } }, { "isoform_ac": "P07864-1", "url": "", "sequence": { "sequence": "MSTVKEQLIEKLIEDDENSQCKITIVGTGAVGMACAISILLKDLADELALVDVALDKLKGEMMDLQHGSLFFSTSKITSGKDYSVSANSRIVIVTAGARQQEGETRLALVQRNVAIMKSIIPAIVHYSPDCKILVVSNPVDILTYIVWKISGLPVTRVIGSGCNLDSARFRYLIGEKLGVHPTSCHGWIIGEHGDSSVPLWSGVNVAGVALKTLDPKLGTDSDKEHWKNIHKQVIQSAYEIIKLKGYTSWAIGLSVMDLVGSILKNLRRVHPVSTMVKGLYGIKEELFLSIPCVLGRNGVSDVVKINLNSEEEALFKKSAETLWNIQKDLIF", "length": 332, "header": "sp|P07864-1|LDHC_HUMAN Isoform 1 of L-lactate dehydrogenase C chain OS=Homo sapiens OX=9606 GN=LDHC PE=1 SV=4 CANONICAL=P07864-1" }, "locus": { "chromosome": "11", "start_pos": 18451124, "end_pos": 18412718, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000541669.6", "url": "https://www.ensembl.org/id/ENST00000541669.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000437783.1", "url": "https://www.ensembl.org/id/ENSP00000437783.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 301, "end_pos": 301, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P07864", "url": "https://www.uniprot.org/uniprot/P07864" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "P07864", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07864" } ], "site_lbl": "Ser301" }, { "start_pos": 95, "end_pos": 95, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P07864", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07864" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr95" } ], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.", "journal": "Human mutation", "date": "2000", "authors": "Lissens W, De Meirleir L, Seneca S, Liebaers I, Brown GK, Brown RM, Ito M, Naito E, Kuroda Y, Kerr DS, Wexler ID, Patel MS, Robinson BH, Seyda A", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "10679936", "url": "https://glygen.org/publication/PubMed/10679936" } ] }, { "title": "Structural basis for altered activity of M- and H-isozyme forms of human lactate dehydrogenase.", "journal": "Proteins", "date": "2001", "authors": "Read JA, Winter VJ, Eszes CM, Sessions RB, Brady RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "11276087", "url": "https://glygen.org/publication/PubMed/11276087" } ] }, { "title": "Selective active site inhibitors of human lactate dehydrogenases A4, B4, and C4.", "journal": "Biochemical pharmacology", "date": "2001", "authors": "Yu Y, Deck JA, Hunsaker LA, Deck LM, Royer RE, Goldberg E, Vander Jagt DL", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "11377399", "url": "https://glygen.org/publication/PubMed/11377399" } ] }, { "title": "The remarkable structural and functional organization of the eukaryotic pyruvate dehydrogenase complexes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Zhou ZH, McCarthy DB, O'Connor CM, Reed LJ, Stoops JK", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "11752427", "url": "https://glygen.org/publication/PubMed/11752427" } ] }, { "title": "The transport of pyruvate in rat liver mitochondria.", "journal": "FEBS letters", "date": "1971", "authors": "Papa S, Francavilla A, Paradies G, Meduri B", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "11945601", "url": "https://glygen.org/publication/PubMed/11945601" } ] }, { "title": "Structure and function of malic enzymes, a new class of oxidative decarboxylases.", "journal": "Biochemistry", "date": "2003", "authors": "Chang GG, Tong L", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "14596586", "url": "https://glygen.org/publication/PubMed/14596586" } ] }, { "title": "A spermatogenesis-related gene expression profile in human spermatozoa and its potential clinical applications.", "journal": "J. Mol. Med.", "date": "2004", "authors": "Wang Hui, Zhou Zuomin, Xu Min, Li Jianmin, Xiao Junhua, Xu Zhi-Yang, Sha Jiahao", "evidence": [ { "database": "UniProtKB", "id": "P07864", "url": "https://www.uniprot.org/uniprot/P07864" } ], "reference": [ { "type": "PubMed", "id": "14985855", "url": "https://glygen.org/publication/PubMed/14985855" } ] }, { "title": "Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency.", "journal": "Human genetics", "date": "2004", "authors": "Brown RM, Head RA, Boubriak II, Leonard JV, Thomas NH, Brown GK", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "15138885", "url": "https://glygen.org/publication/PubMed/15138885" } ] }, { "title": "Cloning and characterization of a novel intronless lactate dehydrogenase gene in human testis.", "journal": "International journal of molecular medicine", "date": "2005", "authors": "Wang H, Zhou Z, Lu L, Xu Z, Sha J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "15870898", "url": "https://glygen.org/publication/PubMed/15870898" } ] }, { "title": "Basigin (CD147) is the target for organomercurial inhibition of monocarboxylate transporter isoforms 1 and 4: the ancillary protein for the insensitive MCT2 is EMBIGIN (gp70).", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Wilson MC, Meredith D, Fox JE, Manoharan C, Davies AJ, Halestrap AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "15917240", "url": "https://glygen.org/publication/PubMed/15917240" } ] }, { "title": "Crystal structure of human dihydrolipoamide dehydrogenase: NAD+/NADH binding and the structural basis of disease-causing mutations.", "journal": "Journal of molecular biology", "date": "2005", "authors": "Brautigam CA, Chuang JL, Tomchick DR, Machius M, Chuang DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "15946682", "url": "https://glygen.org/publication/PubMed/15946682" } ] }, { "title": "Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.", "journal": "Annals of neurology", "date": "2005", "authors": "Head RA, Brown RM, Zolkipli Z, Shahdadpuri R, King MD, Clayton PT, Brown GK", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "16049940", "url": "https://glygen.org/publication/PubMed/16049940" } ] }, { "title": "Identification of a novel human lactate dehydrogenase gene LDHAL6A, which activates transcriptional activities of AP1(PMA).", "journal": "Molecular biology reports", "date": "2009", "authors": "Chen X, Gu X, Shan Y, Tang W, Yuan J, Zhong Z, Wang Y, Huang W, Wan B, Yu L", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "18351441", "url": "https://glygen.org/publication/PubMed/18351441" } ] }, { "title": "Malic enzyme in human liver. Intracellular distribution, purification and properties of cytosolic isozyme.", "journal": "European journal of biochemistry", "date": "1991", "authors": "Zelewski M, Swierczynski J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "1935931", "url": "https://glygen.org/publication/PubMed/1935931" } ] }, { "title": "Computational analyses of mammalian lactate dehydrogenases: human, mouse, opossum and platypus LDHs.", "journal": "Computational biology and chemistry", "date": "2009", "authors": "Holmes RS, Goldberg E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "19679512", "url": "https://glygen.org/publication/PubMed/19679512" } ] }, { "title": "Properties of human testis-specific lactate dehydrogenase expressed from Escherichia coli.", "journal": "The Biochemical journal", "date": "1991", "authors": "LeVan KM, Goldberg E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "1996957", "url": "https://glygen.org/publication/PubMed/1996957" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P07864", "url": "https://www.uniprot.org/uniprot/P07864" }, { "database": "iPTMnet", "id": "P07864", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07864" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Structure-function relationships in dihydrolipoamide acyltransferases.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Reed LJ, Hackert ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "2188967", "url": "https://glygen.org/publication/PubMed/2188967" } ] }, { "title": "A mitochondrial pyruvate carrier required for pyruvate uptake in yeast, Drosophila, and humans.", "journal": "Science (New York, N.Y.)", "date": "2012", "authors": "Bricker DK, Taylor EB, Schell JC, Orsak T, Boutron A, Chen YC, Cox JE, Cardon CM, Van Vranken JG, Dephoure N, Redin C, Boudina S, Gygi SP, Brivet M, Thummel CS, Rutter J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "22628558", "url": "https://glygen.org/publication/PubMed/22628558" } ] }, { "title": "Biophysical characterization of the dimer and tetramer interface interactions of the human cytosolic malic enzyme.", "journal": "PloS one", "date": "2012", "authors": "Murugan S, Hung HC", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "23284632", "url": "https://glygen.org/publication/PubMed/23284632" } ] }, { "title": "Epitopes of human testis-specific lactate dehydrogenase deduced from a cDNA sequence.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1987", "authors": "Millan JL, Driscoll CE, LeVan KM, Goldberg E", "evidence": [ { "database": "UniProtKB", "id": "P07864", "url": "https://www.uniprot.org/uniprot/P07864" }, { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "2440048", "url": "https://glygen.org/publication/PubMed/2440048" } ] }, { "title": "Structural characteristics of the nonallosteric human cytosolic malic enzyme.", "journal": "Biochimica et biophysica acta", "date": "2014", "authors": "Hsieh JY, Li SY, Chen MC, Yang PC, Chen HY, Chan NL, Liu JH, Hung HC", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "24998673", "url": "https://glygen.org/publication/PubMed/24998673" } ] }, { "title": "Allele-specific methylation of type 1 diabetes susceptibility genes.", "journal": "Journal of autoimmunity", "date": "2018", "authors": "Kindt ASD, Fuerst RW, Knoop J, Laimighofer M, Telieps T, Hippich M, Woerheide MA, Wahl S, Wilson R, Sedlmeier EM, Hommel A, Todd JA, Krumsiek J, Ziegler AG, Bonifacio E", "evidence": [ { "database": "RefSeq", "id": "NP_002292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002292" } ], "reference": [ { "type": "PubMed", "id": "29224923", "url": "https://glygen.org/publication/PubMed/29224923" } ] }, { "title": "Human testicular lactate dehydrogenase-C gene is interrupted by six introns at positions homologous to those of LDH-A (muscle) and LDH-B (heart) genes.", "journal": "Biochem. 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"authors": "Naik A, Decock J", "evidence": [ { "database": "RefSeq", "id": "NP_002292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002292" } ], "reference": [ { "type": "PubMed", "id": "34050611", "url": "https://glygen.org/publication/PubMed/34050611" } ] }, { "title": "The cDNA and protein sequences of human lactate dehydrogenase B.", "journal": "The Biochemical journal", "date": "1987", "authors": "Sakai I, Sharief FS, Pan YC, Li SS", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "3435492", "url": "https://glygen.org/publication/PubMed/3435492" } ] }, { "title": "Association between serum lactate dehydrogenase and 60-day mortality in Chinese Hakka patients with acute myeloid leukemia: A cohort study.", "journal": "Journal of clinical laboratory analysis", "date": "2021", "authors": "Xiao Z, Gong R, Chen X, Xiao D, Luo S, Ji Y", "evidence": [ { "database": 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"UniProtKB", "id": "P07864", "url": "https://www.uniprot.org/uniprot/P07864" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "23444", "name": "", "equation": "(S)-lactate + NAD(+) = H(+) + NADH + pyruvate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P19629-1", "P04642-1", "P42123-1", "A0A8I6ASS6-1", "Q7TNA8-1", "P07195-1", "P07864-1", "Q9BYZ2-1", "Q6ZMR3-1", "P00338-1", "P00342-1", "P16125-1", "P06151-1", "Q8BVP2-1", "Q95028-1" ], "evidence": [ { "id": "23444", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/23444" } ] }, { "id": "R-HSA-70510", "name": "LDH tetramer oxidises LACT to PYR", "equation": "", "summary": "Cytosolic lactate dehydrogenase catalyzes the freely reversible reaction of lactate and NAD+ to form pyruvate and NADH + H+. In liver parenchymal cells, this reaction allows lactate from red blood cells and exercising muscle to be converted to pyruvate which in turn is typically used for gluconeogenesis which also consumes the NADH from the reaction.

Lactate dehydrogenase is active as a tetramer. Two isoforms of lactate dehydrogenase, A and B, are widely expressed in human tissues, and all five tetramers - A4, A3B, A2B2, AB3, and B4 - are found (Read et al. 2001; Sakai et al. 1987; Yu et al. 2001). A third isoform, C, and its tetramer, C4, are found in testis (Millan et al. 1987; LeVan & Goldberg 1991). A fourth isoform, LDHAL6A, is less fully characterized than these others but limited data suggest that it may be testis-specific (Chen et al. 2009).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00338-1", "P07195-1", "Q6ZMR3-1", "P07864-1" ], "evidence": [ { "id": "R-HSA-70510", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70510" } ] }, { "id": "R-HSA-71849", "name": "LDH tetramer reduces PYR to LACT", "equation": "", "summary": "Cytosolic lactate dehydrogenase (LDH) catalyzes the freely reversible reaction of pyruvate (PYR) and NADH + H+ to form lactate (LACT) and NAD+. In liver parenchymal cells, this reaction allows lactate from red blood cells and exercising muscle to be converted to pyruvate which in turn is typically used for gluconeogenesis which also consumes the NADH from the reaction.

Lactate dehydrogenase is active as a tetramer. Two isoforms of lactate dehydrogenase, A and B, are widely expressed in human tissues, and all five tetramers - A4, A3B, A2B2, AB3, and B4 - are found (Read et al. 2001; Sakai et al. 1987; Yu et al. 2001). A third isoform, C, and its tetramer, C4, are found in testis (Millan et al. 1987; LeVan & Goldberg 1991). A fourth isoform, LDHAL6A, is less fully characterized than these others but limited data suggest that it may be testis-specific (Chen et al. 2009).", "cellular_location": "cytosol", "input_participant_list": [ "R-ALL-29398" ], "output_participant_list": [], "enzyme_list": [ "P00338-1", "P07195-1", "Q6ZMR3-1", "P07864-1" ], "evidence": [ { "id": "R-HSA-71849", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71849" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-29398", "participant_name": "PYR [cytosol]", "crossref": [ { "id": "C00022", "database": "COMPOUND", "url": "" }, { "id": "15361", "database": "ChEBI", "url": "" }, { "id": "107735", "database": "PubChem Compound", "url": "" }, { "id": "c00022", "database": "KEGG Gene", "url": "" }, { "id": "000001532517", "database": "ZINC", "url": "" }, { "id": "C00022", "database": "KEGG Gene", "url": "" }, { "id": "C00001200", "database": "KNApSAcK", "url": "" }, { "id": "PYRUVATE", "database": 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