{ "uniprot_canonical_ac": "P00338-1", "uniprot_ac": "P00338", "uniprot_id": "LDHA_HUMAN", "mass": { "chemical_mass": 36689.0, "monoisotopic_mass": 36689.0 }, "refseq": { "ac": "NP_001128711", "name": "L-lactate dehydrogenase A chain isoform 2", "summary": "This gene encodes the A subunit of lactate dehydrogenase enzyme which catalyzes the reversible conversion of pyruvate to lactate with the concomitant oxidation of NADH to NAD in anaerobic glycolysis. The protein is found predominantly in skeletal muscle and belongs to the lactate dehydrogenase family. Mutations in this gene have been linked to exertional myoglobinuria. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Sep 2023].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128711" }, "gene_names": [ { "name": "LDHA", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P00338", "id": "P00338" }, { "name": "GSD11; HEL-S-133P; LDHM; PIG19", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128711", "id": "NP_001128711" }, { "name": "LDHA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128711", "id": "NP_001128711" }, { "name": "PIG19", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P00338", "id": "P00338" } ], "protein_names": [ { "name": "L-lactate dehydrogenase A chain", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P00338" }, { "name": "1.1.1.27", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00338" }, { "name": "Cell proliferation-inducing gene 19 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00338" }, { "name": "L-lactate dehydrogenase A chain isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128711", "id": "NP_001128711" }, { "name": "L-lactate dehydrogenase A chain; lactate dehydrogenase M; LDH muscle subunit; renal carcinoma antigen NY-REN-59; proliferation-inducing gene 19; LDH-A; LDH-M; cell proliferation-inducing gene 19 protein; epididymis secretory sperm binding protein Li 133P", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128711", "id": "NP_001128711" }, { "name": "LDH muscle subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00338" }, { "name": "LDH-A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00338" }, { "name": "LDH-M", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00338" }, { "name": "Renal carcinoma antigen NY-REN-59", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00338" } ], "function": [ { "annotation": "Combined inhibition of pyruvate dehydrogenase kinase 1 and lactate dehydrogenase a induces metabolic and signaling reprogramming and enhances lung adenocarcinoma cell killing.", "evidence": [ { "database": "RefSeq", "id": "NP_001128711", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128711" }, { "database": "PubMed", "id": "37805163", "url": "https://glygen.org/publication/PubMed/37805163" } ] }, { "annotation": "Identifying the critical oncogenic mechanism of LDHA based on a prognostic model of T-cell synthetic drivers.", "evidence": [ { "database": "RefSeq", "id": "NP_001128711", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128711" }, { "database": "PubMed", "id": "38000233", "url": "https://glygen.org/publication/PubMed/38000233" } ] }, { "annotation": "Interconverts simultaneously and stereospecifically pyruvate and lactate with concomitant interconversion of NADH and NAD(+).", "evidence": [ { "database": "UniProtKB", "id": "P00338", "url": "https://www.uniprot.org/uniprot/P00338#function" }, { "database": "PubMed", "id": "11276087", "url": "https://glygen.org/publication/PubMed/11276087" } ] }, { "annotation": "Nuclear Translocation of LDHA Promotes the Catabolism of BCAAs to Sustain GBM Cell Proliferation through the TxN Antioxidant Pathway. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001128711", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128711" }, { "database": "PubMed", "id": "37298317", "url": "https://glygen.org/publication/PubMed/37298317" } ] }, { "annotation": "The mRNA and protein levels of the glycolytic enzymes lactate dehydrogenase A (LDHA) and phosphofructokinase platelet (PFKP) are good predictors of survival time, recurrence, and risk of death in cervical cancer patients.", "evidence": [ { "database": "RefSeq", "id": "NP_001128711", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128711" }, { "database": "PubMed", "id": "37326348", "url": "https://glygen.org/publication/PubMed/37326348" } ] }, { "annotation": "The novel role of LDHA/LDHB in the prognostic value and tumor-immune infiltration in clear cell renal cell carcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001128711", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128711" }, { "database": "PubMed", "id": "37547725", "url": "https://glygen.org/publication/PubMed/37547725" } ] }, { "annotation": "This gene encodes the A subunit of lactate dehydrogenase enzyme which catalyzes the reversible conversion of pyruvate to lactate with the concomitant oxidation of NADH to NAD in anaerobic glycolysis. The protein is found predominantly in skeletal muscle and belongs to the lactate dehydrogenase family. Mutations in this gene have been linked to exertional myoglobinuria. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Sep 2023].", "evidence": [ { "database": "RefSeq", "id": "NP_001128711", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128711" } ] } ], "disease": [ { "disease_id": "MONDO:0013047", "recommended_name": { "id": "MONDO:0013047", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013047", "name": "glycogen storage disease due to lactate dehydrogenase M-subunit deficiency", "description": "A condition that affects how the body breaks down sugar to use as energy in muscle cells. People withthis conditionexperience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people,high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern." }, "synonyms": [ { "id": "MONDO:0013047", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013047", "name": "GSD due to lactate dehydrogenase M-subunit deficiency", "description": "" }, { "id": "MONDO:0013047", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013047", "name": "LDH-M subunit deficiency", "description": "" }, { "id": "MONDO:0013047", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013047", "name": "LDHA glycogen storage disease", "description": "" }, { "id": "MONDO:0013047", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013047", "name": "glycogen storage disease caused by mutation in LDHA", "description": "" }, { "id": "MONDO:0013047", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013047", "name": "glycogenosis due to lactate dehydrogenase M-subunit deficiency", "description": "" }, { "id": "MONDO:0013047", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013047", "name": "lactate dehydrogenase A deficiency", "description": "" }, { "id": "MONDO:0013047", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013047", "name": "GSD 11", "description": "" }, { "id": "MONDO:0013047", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013047", "name": "GSD XI", "description": "" }, { "id": "MONDO:0013047", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013047", "name": "GSD type 11", "description": "" }, { "id": "MONDO:0013047", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013047", "name": "GSD11", "description": "" }, { "id": "MONDO:0013047", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013047", "name": "glycogen storage disease XI", "description": "" }, { "id": "MONDO:0013047", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013047", "name": "glycogen storage disease type 11", "description": "" }, { "id": "MONDO:0013047", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013047", "name": "glycogenosis type 11", "description": "" }, { "id": "MONDO:0013047", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013047", "name": "lactate dehydrogenase deficiency type A", "description": "" }, { "id": "MIM:612933", "resource": "MIM", "url": "https://www.omim.org/entry/612933", "name": "Glycogen storage disease 11", "description": "Glycogen storage disease 11" } ], "evidence": [ { "id": "612933", "database": "MIM", "url": "https://www.omim.org/entry/612933" } ] } ], "snv": [ { "evidence": [ { "id": "rs777988373", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777988373" }, { "id": "rs777988373", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777988373" }, { "id": "rs777988373", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777988373" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 137, "end_pos": 137, "sequence_org": "S", "sequence_mut": "*", "comment": "Somatic mutation passed 1 out of 1 filters: o-glyco-site-loss (S->*).", "chr_id": "11", "chr_pos": "18401002", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S137", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1480859570", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1480859570" }, { "id": "rs1480859570", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1480859570#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 149, "end_pos": 149, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KIS->NIS).", "chr_id": "11", "chr_pos": "18402868", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K149", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768761936", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768761936" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 159, "end_pos": 159, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IGS->NGS).", "chr_id": "11", "chr_pos": "18402897", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I159", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1212540504", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1212540504" }, { "id": "rs1212540504", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1212540504#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 207, "end_pos": 207, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVA->NVT).", "chr_id": "11", "chr_pos": "18403720", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A207", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs202095684", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202095684" }, { "id": "rs202095684", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202095684" }, { "id": "rs202095684", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs202095684" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 69, "end_pos": 69, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->R).", "chr_id": "11", "chr_pos": "18399511", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S69", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 106, "end_pos": 106, "sequence_org": "R", "sequence_mut": "A", "comment": "Increases binding to FLCN.", "evidence": [ { "database": "UniProtKB", "id": "P00338", "url": "https://www.uniprot.org/uniprot/P00338" }, { "database": "PubMed", "id": "34381247", "url": "https://glygen.org/publication/PubMed/34381247" } ] }, { "start_pos": 106, "end_pos": 106, "sequence_org": "R", "sequence_mut": "K", "comment": "Increases binding to FLCN.", "evidence": [ { "database": "UniProtKB", "id": "P00338", "url": "https://www.uniprot.org/uniprot/P00338" }, { "database": "PubMed", "id": "34381247", "url": "https://glygen.org/publication/PubMed/34381247" } ] }, { "start_pos": 106, "end_pos": 106, "sequence_org": "R", "sequence_mut": "Q", "comment": "Increases binding to FLCN.", "evidence": [ { "database": "UniProtKB", "id": "P00338", "url": "https://www.uniprot.org/uniprot/P00338" }, { "database": "PubMed", "id": "34381247", "url": "https://glygen.org/publication/PubMed/34381247" } ] }, { "start_pos": 56, "end_pos": 56, "sequence_org": "D", "sequence_mut": "A", "comment": "Abolishes interaction with MP31.", "evidence": [ { "database": "UniProtKB", "id": "P00338", "url": "https://www.uniprot.org/uniprot/P00338" }, { "database": "PubMed", "id": "33406399", "url": "https://glygen.org/publication/PubMed/33406399" } ] }, { "start_pos": 99, "end_pos": 99, "sequence_org": "R", "sequence_mut": "A", "comment": "Abolishes interaction with MP31.", "evidence": [ { "database": "UniProtKB", "id": "P00338", "url": "https://www.uniprot.org/uniprot/P00338" }, { "database": "PubMed", "id": "33406399", "url": "https://glygen.org/publication/PubMed/33406399" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "99.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134333", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134333" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "98.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134333", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134333" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "99.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134333", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134333" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "99.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134333", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134333" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "99.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134333", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134333" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "99.16", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134333", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134333" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "99.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134333", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134333" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "98.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134333", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134333" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "99.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134333", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134333" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P00338", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00338" } ], "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, 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"MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P00338", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00338" } ], "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": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P00338", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00338" } ], "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": 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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": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P00338", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00338" } ], "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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dehydrogenase A OS=Homo sapiens OX=9606 GN=LDHA PE=1 SV=1 CANONICAL=P00338-1" }, "locus": { "chromosome": "11", "start_pos": 18402848, "end_pos": 18396843, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000536528.5", "url": "https://www.ensembl.org/id/ENST00000536528.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000441058.1", "url": "https://www.ensembl.org/id/ENSP00000441058.1" } ] } }, { "isoform_ac": "F5GXH2-1", "url": "", "sequence": { "sequence": "MGEPSGGYTYTQTSIFLFHAKIPFGSKSNMATLKDQLIYNLLKEEQTPQNKITVVGVGAVGMACAISILMKDLADELALVDVIEDKLKGEMMDLQHGSLFLRTPKIVSGKDYNVTANSKLVIITAGARQQEGESRLNLVQRNV", "length": 143, "header": "tr|F5GXH2-1|LDHA_HUMAN Computationally mapped isoform of L-lactate dehydrogenase A chain OS=Homo sapiens OX=9606 GN=LDHA PE=1 SV=2 CANONICAL=P00338-1" }, "locus": { "chromosome": "11", "start_pos": 18400934, "end_pos": 18396548, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000495052.5", "url": "https://www.ensembl.org/id/ENST00000495052.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000446415.2", "url": "https://www.ensembl.org/id/ENSP00000446415.2" } ] } }, { "isoform_ac": "F5GXU1-1", "url": "", "sequence": { "sequence": "MATLKDQLIYNLLKEEQTPQNKITVVGVGAVGMACAITVLIWSSVT", "length": 46, "header": "tr|F5GXU1-1|F5GXU1_HUMAN Computationally mapped isoform of Lactate dehydrogenase A OS=Homo sapiens OX=9606 GN=LDHA PE=1 SV=1 CANONICAL=P00338-1" }, "locus": { "chromosome": "11", "start_pos": 18400932, "end_pos": 18396843, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000543695.5", "url": "https://www.ensembl.org/id/ENST00000543695.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000440368.1", "url": "https://www.ensembl.org/id/ENSP00000440368.1" } ] } }, { "isoform_ac": "F5GXY2-1", "url": "", "sequence": { "sequence": "MATLKDQLIYNLLKEEQTPQNKITVVGVGAVGMACAISILMKDLADELALVDVIEDKLKGEMMDLQHGSLFLRTPKIVSGKDYNVTANSKLVIITAGARQQEGESRLNLVQRNVNIFKFIIPNVVKYSPNCKLLIVSNPVDILTYVAWKISGFPKN", "length": 156, "header": "tr|F5GXY2-1|LDHA_HUMAN Computationally mapped isoform of L-lactate dehydrogenase A chain OS=Homo sapiens OX=9606 GN=LDHA PE=1 SV=8 CANONICAL=P00338-1" }, "locus": { "chromosome": "11", "start_pos": 18402889, "end_pos": 18396843, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000543445.5", "url": "https://www.ensembl.org/id/ENST00000543445.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000440161.1", "url": "https://www.ensembl.org/id/ENSP00000440161.1" } ] } }, { "isoform_ac": "F5GYU2-1", "url": "", "sequence": { "sequence": "MATLKDQLIYNLLKEEQTPQNKITVVGVGAVGMACAISILMKDLADELALVDVIEDKLKGEMMDLQHGSLFLRTPKIVSGKDYNVTANSKLVIITAGARQQEGESRLNLVQRNVNIFKFIIPNVVKYSPNCKLLIVSNPGEAFD", "length": 144, "header": "tr|F5GYU2-1|F5GYU2_HUMAN Computationally mapped isoform of L-lactate dehydrogenase A chain OS=Homo sapiens OX=9606 GN=LDHA PE=1 SV=1 CANONICAL=P00338-1" }, "locus": { "chromosome": "11", "start_pos": 18401024, "end_pos": 18396843, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000478970.6", "url": "https://www.ensembl.org/id/ENST00000478970.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000441241.1", "url": "https://www.ensembl.org/id/ENSP00000441241.1" } ] } }, { "isoform_ac": "F5GZQ4-1", "url": "", "sequence": { "sequence": "MATLKDQLIYNLLKEEQTPQNKITVVGVGAVGMACAISILMKDLADELALVDVIEDKLKGEMMDLQHGSLFL", "length": 72, "header": "tr|F5GZQ4-1|LDHA_HUMAN Computationally mapped isoform of L-lactate dehydrogenase A chain OS=Homo sapiens OX=9606 GN=LDHA PE=1 SV=1 CANONICAL=P00338-1" }, "locus": { "chromosome": "11", "start_pos": 18399520, "end_pos": 18396843, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000535451.5", "url": "https://www.ensembl.org/id/ENST00000535451.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000444292.1", "url": "https://www.ensembl.org/id/ENSP00000444292.1" } ] } }, { "isoform_ac": "F5H5J4-1", "url": "", "sequence": { "sequence": "MATLKDQLIYNLLKEEQTPQNKITVVGVGAVGMACAISILMKDLADELALVDVIEDKLKGEMMDLQHGSLFLRTPKIVSGKDSAPRFRD", "length": 89, "header": "tr|F5H5J4-1|F5H5J4_HUMAN Computationally mapped isoform of L-lactate dehydrogenase A chain OS=Homo sapiens OX=9606 GN=LDHA PE=1 SV=1 CANONICAL=P00338-1" }, "locus": { "chromosome": "11", "start_pos": 18403760, "end_pos": 18396843, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000541097.5", "url": "https://www.ensembl.org/id/ENST00000541097.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000443362.1", "url": "https://www.ensembl.org/id/ENSP00000443362.1" } ] } }, { "isoform_ac": "F5H6W8-1", "url": "", "sequence": { "sequence": "MATLKDQLIYNLLKEEQTPQNKITVVGVGAVGMACAISILMKDLADELALVDVIEDKLKGEMMDLQHGSLFLRTPKIVSGKALPNCSYIKLQLD", "length": 94, "header": "tr|F5H6W8-1|F5H6W8_HUMAN Computationally mapped isoform of L-lactate dehydrogenase A chain OS=Homo sapiens OX=9606 GN=LDHA PE=1 SV=1 CANONICAL=P00338-1" }, "locus": { "chromosome": "11", "start_pos": 18400667, "end_pos": 18396843, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000539814.5", "url": "https://www.ensembl.org/id/ENST00000539814.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000442979.1", "url": "https://www.ensembl.org/id/ENSP00000442979.1" } ] } }, { "isoform_ac": "F5H8H6-1", "url": "", "sequence": { "sequence": "MATLKDQLIYNLLKEEQTPQNKITVVGVGAVGMACAISILMK", "length": 42, "header": "tr|F5H8H6-1|LDHA_HUMAN Computationally mapped isoform of L-lactate dehydrogenase A chain OS=Homo sapiens OX=9606 GN=LDHA PE=1 SV=1 CANONICAL=P00338-1" }, "locus": { "chromosome": "11", "start_pos": 18396968, "end_pos": 18396843, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000545467.5", "url": "https://www.ensembl.org/id/ENST00000545467.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000443545.1", "url": "https://www.ensembl.org/id/ENSP00000443545.1" } ] } }, { "isoform_ac": "P00338-1", "url": "", "sequence": { "sequence": "MATLKDQLIYNLLKEEQTPQNKITVVGVGAVGMACAISILMKDLADELALVDVIEDKLKGEMMDLQHGSLFLRTPKIVSGKDYNVTANSKLVIITAGARQQEGESRLNLVQRNVNIFKFIIPNVVKYSPNCKLLIVSNPVDILTYVAWKISGFPKNRVIGSGCNLDSARFRYLMGERLGVHPLSCHGWVLGEHGDSSVPVWSGMNVAGVSLKTLHPDLGTDKDKEQWKEVHKQVVESAYEVIKLKGYTSWAIGLSVADLAESIMKNLRRVHPVSTMIKGLYGIKDDVFLSVPCILGQNGISDLVKVTLTSEEEARLKKSADTLWGIQKELQF", "length": 332, "header": "sp|P00338-1|LDHA_HUMAN Isoform 1 of L-lactate dehydrogenase A chain OS=Homo sapiens OX=9606 GN=LDHA PE=1 SV=2 CANONICAL=P00338-1" }, "locus": { "chromosome": "HG2111_PATCH", "start_pos": 158730, "end_pos": 148295, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000671981.1", "url": "https://www.ensembl.org/id/ENST00000671981.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000499898.1", "url": "https://www.ensembl.org/id/ENSP00000499898.1" } ] } }, { "isoform_ac": "P00338-2", "url": "", "sequence": { "sequence": "MATLKDQLIYNLLKEEQTPQNKITVVGVGAVGMACAISILMKDLADELALVDVIEDKLKGEMMDLQHGSLFLRTPKIVSGKDYNVTANSKLVIITAGARQQEGESRLNLVQRNVNIFKFIIPNVVKYSPNCKLLIVSNPVDILTYVAWKISGFPKNRVIGSGCNLDSARFRYLMGERLGVHPLSCHGWVLGEHGDSSVPVWSGMNVAGVSLKTLHPDLGTDKDKEQWKECRYTLGDPKGAAILKSSDVISFHCLGYNRILGGGCACCPFYLICD", "length": 274, "header": "sp|P00338-2|LDHA_HUMAN Isoform 2 of L-lactate dehydrogenase A chain OS=Homo sapiens OX=9606 GN=LDHA PE=1 SV=2 CANONICAL=P00338-1" }, "locus": { "chromosome": "11", "start_pos": 18407373, "end_pos": 18396843, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000396222.6", "url": "https://www.ensembl.org/id/ENST00000396222.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000379524.2", "url": "https://www.ensembl.org/id/ENSP00000379524.2" } ] } }, { "isoform_ac": "P00338-3", "url": "", "sequence": { "sequence": "MGEPSGGYTYTQTSIFLFHAKIPFGSKSNMATLKDQLIYNLLKEEQTPQNKITVVGVGAVGMACAISILMKDLADELALVDVIEDKLKGEMMDLQHGSLFLRTPKIVSGKDYNVTANSKLVIITAGARQQEGESRLNLVQRNVNIFKFIIPNVVKYSPNCKLLIVSNPVDILTYVAWKISGFPKNRVIGSGCNLDSARFRYLMGERLGVHPLSCHGWVLGEHGDSSVPVWSGMNVAGVSLKTLHPDLGTDKDKEQWKEVHKQVVESAYEVIKLKGYTSWAIGLSVADLAESIMKNLRRVHPVSTMIKGLYGIKDDVFLSVPCILGQNGISDLVKVTLTSEEEARLKKSADTLWGIQKELQF", "length": 361, "header": "sp|P00338-3|LDHA_HUMAN Isoform 3 of L-lactate dehydrogenase A chain OS=Homo sapiens OX=9606 GN=LDHA PE=1 SV=2 CANONICAL=P00338-1" }, "locus": { "chromosome": "11", "start_pos": 18407278, "end_pos": 18396548, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000379412.9", "url": "https://www.ensembl.org/id/ENST00000379412.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000368722.6", "url": "https://www.ensembl.org/id/ENSP00000368722.6" } ] } }, { "isoform_ac": "P00338-4", "url": "", "sequence": { "sequence": "MATLKDQLIYNLLKEEQTPQNKITVVGVGAVGMACAISILMKDLADELALVDVIEDKLKGEMMDLQHGSLFLRTPKIVSGKVDILTYVAWKISGFPKNRVIGSGCNLDSARFRYLMGERLGVHPLSCHGWVLGEHGDSSVPVWSGMNVAGVSLKTLHPDLGTDKDKEQWKEVHKQVVESAYEVIKLKGYTSWAIGLSVADLAESIMKNLRRVHPVSTMIKGLYGIKDDVFLSVPCILGQNGISDLVKVTLTSEEEARLKKSADTLWGIQKELQF", "length": 274, "header": "sp|P00338-4|LDHA_HUMAN Isoform 4 of L-lactate dehydrogenase A chain OS=Homo sapiens OX=9606 GN=LDHA PE=1 SV=2 CANONICAL=P00338-1" }, "locus": { "chromosome": "HG2111_PATCH", "start_pos": 158730, "end_pos": 148295, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000672996.1", "url": "https://www.ensembl.org/id/ENST00000672996.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000500284.1", "url": "https://www.ensembl.org/id/ENSP00000500284.1" } ] } }, { "isoform_ac": "P00338-5", "url": "", "sequence": { "sequence": "MATLKDQLIYNLLKEEQTPQNKITVVGVGAVGMACAISILMKDLADELALVDVIEDKLKGEMMDLQHGSLFLRTPKIVSGKDYNVTANSKLVIITAGARQQEGESRLNLVQRNVNIFKFIIPNVVKYSPNCKLLIVSNPVDILTYVAWKISGFPKNRVIGSGCNLDSARFRYLMGERLGVHPLSCHGWVLGEHGDSSVPVWSGMNVAGVSLKTLHPDLGTDKDKEQWKEVHKQVVERVFTE", "length": 241, "header": "sp|P00338-5|LDHA_HUMAN Isoform 5 of L-lactate dehydrogenase A chain OS=Homo sapiens OX=9606 GN=LDHA PE=1 SV=2 CANONICAL=P00338-1" }, "locus": { "chromosome": "11", "start_pos": 18407129, "end_pos": 18396843, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000227157.8", "url": "https://www.ensembl.org/id/ENST00000227157.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000227157.4", "url": "https://www.ensembl.org/id/ENSP00000227157.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 137, "start_aa": "Ser", "end_pos": 137, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser137", "evidence": [ { "id": "P00338", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P00338" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30444036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30444036" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "26853435", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26853435" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "P00338", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P00338" } ] }, { "glytoucan_ac": "G70994MS", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 137, "start_aa": "Ser", "end_pos": 137, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser137", "evidence": [ { "id": "GLY_000142", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000142" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 69, "start_aa": "Ser", "end_pos": 69, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser69", "evidence": [ { "id": "P00338", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P00338" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30444036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30444036" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "26853435", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26853435" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "P00338", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P00338" } ] } ], "phosphorylation": [ { "start_pos": 10, "end_pos": 10, "kinase_uniprot_canonical_ac": "P04626-1", "kinase_gene_name": "ERBB2", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P00338", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00338" }, { "database": "PubMed", "id": "28218905", "url": "https://glygen.org/publication/PubMed/28218905" } ], "site_lbl": "Tyr10" }, { "start_pos": 10, "end_pos": 10, "kinase_uniprot_canonical_ac": "P11362-1", "kinase_gene_name": "FGFR1", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P00338", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00338" }, { "database": "PubMed", "id": "21969607", "url": "https://glygen.org/publication/PubMed/21969607" } ], "site_lbl": "Tyr10" }, { "start_pos": 10, "end_pos": 10, "kinase_uniprot_canonical_ac": "P12931-1", "kinase_gene_name": "SRC", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P00338", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00338" }, { "database": "PubMed", "id": "28218905", "url": "https://glygen.org/publication/PubMed/28218905" } ], "site_lbl": "Tyr10" }, { "start_pos": 10, "end_pos": 10, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "P00338", "url": "https://www.uniprot.org/uniprot/P00338" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "P00338", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00338" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "21969607", "url": "https://glygen.org/publication/PubMed/21969607" }, { "database": "PubMed", "id": "28516914", "url": "https://glygen.org/publication/PubMed/28516914" }, { "database": "PubMed", "id": "30138330", "url": "https://glygen.org/publication/PubMed/30138330" }, { "database": "PubMed", "id": "30745841", "url": "https://glygen.org/publication/PubMed/30745841" }, { "database": "PubMed", "id": "32572027", "url": "https://glygen.org/publication/PubMed/32572027" }, { "database": "PubMed", "id": "32983978", "url": "https://glygen.org/publication/PubMed/32983978" }, { "database": "PubMed", "id": "33572095", "url": "https://glygen.org/publication/PubMed/33572095" }, { "database": "PubMed", "id": "35102488", "url": "https://glygen.org/publication/PubMed/35102488" }, { "database": "PubMed", "id": "35115484", "url": "https://glygen.org/publication/PubMed/35115484" }, { "database": "PubMed", "id": "35525866", "url": "" } ], "site_lbl": "Tyr10" }, { "start_pos": 161, "end_pos": 161, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P00338", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00338" }, { "database": "PubMed", "id": "36239424", "url": "" } ], "site_lbl": "Ser161" }, { "start_pos": 18, "end_pos": 18, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P00338", "url": "https://www.uniprot.org/uniprot/P00338" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P00338", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00338" } ], "site_lbl": "Thr18" }, { "start_pos": 239, "end_pos": 239, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "P00338", "url": "https://www.uniprot.org/uniprot/P00338" }, { "database": "iPTMnet", "id": "P00338", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00338" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" }, { "database": "PubMed", "id": "16497976", "url": "https://glygen.org/publication/PubMed/16497976" }, { "database": "phospho.ELM", "id": "P00338", "url": "http://phospho.elm.eu.org/byAccession/P00338.html" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ], "site_lbl": "Tyr239" }, { "start_pos": 309, "end_pos": 309, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P00338", "url": "https://www.uniprot.org/uniprot/P00338" } ], "site_lbl": "Thr309" }, { "start_pos": 310, "end_pos": 310, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P00338", "url": "https://www.uniprot.org/uniprot/P00338" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P00338", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00338" } ], "site_lbl": "Ser310" }, { "start_pos": 322, "end_pos": 322, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P00338", "url": "https://www.uniprot.org/uniprot/P00338" } ], "site_lbl": "Thr322" }, { "start_pos": 83, "end_pos": 83, "kinase_uniprot_canonical_ac": "P11362-1", "kinase_gene_name": "FGFR1", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P00338", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00338" }, { "database": "PubMed", "id": "21969607", "url": "https://glygen.org/publication/PubMed/21969607" } ], "site_lbl": "Tyr83" }, { "start_pos": 83, "end_pos": 83, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P00338", "url": 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J. Biochem.", "date": "1985", "authors": "Tsujibo H, Tiano H F, Li S S", "evidence": [ { "database": "UniProtKB", "id": "P00338", "url": "https://www.uniprot.org/uniprot/P00338" } ], "reference": [ { "type": "PubMed", "id": "3838278", "url": "https://glygen.org/publication/PubMed/3838278" } ] }, { "title": "Specific inhibition of pyruvate transport in rat liver mitochondria and human erythrocytes by alpha-cyano-4-hydroxycinnamate.", "journal": "The Biochemical journal", "date": "1974", "authors": "Halestrap AP, Denton RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "4822737", "url": "https://glygen.org/publication/PubMed/4822737" } ] }, { "title": "Fast-type electrophoretic variant of lactate dehydrogenase M(A) and comparison with other missense mutations in lactate dehydrogenase M(A) and H(B) genes.", "journal": "Clin. Chem.", "date": "1994", "authors": "Maekawa M, Sudo K, Kobayashi A, Sugiyama E, Li S S, Kanno T", "evidence": [ { "database": "UniProtKB", "id": "P00338", "url": "https://www.uniprot.org/uniprot/P00338" } ], "reference": [ { "type": "PubMed", "id": "7908613", "url": "https://glygen.org/publication/PubMed/7908613" } ] }, { "title": "Deficiency of the voltage-dependent anion channel: a novel cause of mitochondriopathy.", "journal": "Pediatric research", "date": "1996", "authors": "Huizing M, Ruitenbeek W, Thinnes FP, DePinto V, Wendel U, Trijbels FJ, Smit LM, ter Laak HJ, van den Heuvel LP", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "8726225", "url": "https://glygen.org/publication/PubMed/8726225" } ] }, { "title": "Involvement of an active-site Zn2+ ligand in the catalytic mechanism of human glyoxalase I.", "journal": "The Journal of biological chemistry", 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"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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} ] }, { "ec_number": "1.1.1.27", "activity": "", "evidence": [ { "id": "Q6ZMR3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6ZMR3" } ] } ] }, { "uniprot_ac": "Q7TNA8", "gene_name": "Ldhal6b", "activity": [ { "ec_number": "1.1.1.27", "activity": "(S)-lactate + NAD(+) = H(+) + NADH + pyruvate.", "evidence": [ { "id": "Q7TNA8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7TNA8" } ] }, { "ec_number": "1.1.1.27", "activity": "", "evidence": [ { "id": "Q7TNA8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7TNA8" } ] } ] }, { "uniprot_ac": "Q8BVP2", "gene_name": "Ldhal6b", "activity": [ { "ec_number": "1.1.1.27", "activity": "(S)-lactate + NAD(+) = H(+) + NADH + pyruvate.", "evidence": [ { "id": "Q8BVP2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BVP2" } ] }, { "ec_number": "1.1.1.27", "activity": "", "evidence": [ { "id": "Q8BVP2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BVP2" } ] } ] }, { "uniprot_ac": "Q95028", "gene_name": "Ldh", "activity": [ { "ec_number": "1.1.1.27", "activity": "(S)-lactate + NAD(+) = H(+) + NADH + pyruvate.", "evidence": [ { "id": "Q95028", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q95028" } ] }, { "ec_number": "1.1.1.27", "activity": "", "evidence": [ { "id": "Q95028", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q95028" } ] } ] }, { "uniprot_ac": "Q9BYZ2", "gene_name": "LDHAL6B", "activity": [ { "ec_number": "1.1.1.27", "activity": "(S)-lactate + NAD(+) = H(+) + NADH + pyruvate.", "evidence": [ { "id": "Q9BYZ2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BYZ2" } ] }, { "ec_number": "1.1.1.27", "activity": "", "evidence": [ { "id": "Q9BYZ2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BYZ2" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 69, 137 ], "snv_sites": [ 69, 137, 149, 159, 207 ], "glycation_sites": [], "phosphorylation_sites": [ 10, 18, 83, 161, 239, 309, 310, 322 ], "sequon_annotation_sites": [ { "start_pos": 84, "end_pos": 86 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", 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