{ "uniprot_canonical_ac": "Q02338-1", "uniprot_ac": "Q02338", "uniprot_id": "BDH_HUMAN", "mass": { "chemical_mass": 38157.0, "monoisotopic_mass": 38157.0 }, "refseq": { "ac": "NP_004042", "name": "D-beta-hydroxybutyrate dehydrogenase, mitochondrial precursor", "summary": "This gene encodes a member of the short-chain dehydrogenase/reductase gene family. The encoded protein forms a homotetrameric lipid-requiring enzyme of the mitochondrial membrane and has a specific requirement for phosphatidylcholine for optimal enzymatic activity. The encoded protein catalyzes the interconversion of acetoacetate and (R)-3-hydroxybutyrate, the two major ketone bodies produced during fatty acid catabolism. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004042" }, "gene_names": [ { "name": "BDH1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q02338", "id": "Q02338" }, { "name": "BDH1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004042", "id": "NP_004042" }, { "name": "BDH; SDR9C1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004042", "id": "NP_004042" }, { "name": "BDH", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q02338", "id": "Q02338" }, { "name": "SDR9C1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q02338", "id": "Q02338" } ], "protein_names": [ { "name": "D-beta-hydroxybutyrate dehydrogenase, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q02338" }, { "name": "(R)-3-hydroxybutyrate dehydrogenase; 3-hydroxybutyrate dehydrogenase, type 1; 3-hydroxybutyrate dehydrogenase (heart, mitochondrial); D-beta-hydroxybutyrate dehydrogenase, mitochondrial; short chain dehydrogenase/reductase family 9C member 1; epididymis secretory sperm binding protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004042", "id": "NP_004042" }, { "name": "1.1.1.30", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q02338" }, { "name": "3-hydroxybutyrate dehydrogenase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q02338" }, { "name": "BDH", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q02338" }, { "name": "D-beta-hydroxybutyrate dehydrogenase, mitochondrial precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004042", "id": "NP_004042" }, { "name": "Short chain dehydrogenase/reductase family 9C member 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q02338" } ], "function": [ { "annotation": "Data show that the ketone body metabolizing enzymes BDH1, BDH2, OXCT1 and ACAT1 were expressed at the mRNA and protein level in all glioma cell lines. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004042", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004042" }, { "database": "PubMed", "id": "21791085", "url": "https://glygen.org/publication/PubMed/21791085" } ] }, { "annotation": "Expression and clinical significance of BDH1 in liver cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_004042", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004042" }, { "database": "PubMed", "id": "35049211", "url": "https://glygen.org/publication/PubMed/35049211" } ] }, { "annotation": "MTA2 triggered R-loop trans-regulates BDH1-mediated beta-hydroxybutyrylation and potentiates propagation of hepatocellular carcinoma stem cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004042", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004042" }, { "database": "PubMed", "id": "33795651", "url": "https://glygen.org/publication/PubMed/33795651" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004042", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004042" }, { "database": "PubMed", "id": "20877624", "url": "https://glygen.org/publication/PubMed/20877624" } ] }, { "annotation": "This gene encodes a member of the short-chain dehydrogenase/reductase gene family. The encoded protein forms a homotetrameric lipid-requiring enzyme of the mitochondrial membrane and has a specific requirement for phosphatidylcholine for optimal enzymatic activity. The encoded protein catalyzes the interconversion of acetoacetate and (R)-3-hydroxybutyrate, the two major ketone bodies produced during fatty acid catabolism. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_004042", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004042" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1003679199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1003679199" }, { "id": "rs1003679199", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1003679199" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 146, "end_pos": 146, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAG->NAS).", "chr_id": "3", "chr_pos": "197514390", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G146", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1188043696", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1188043696" }, { "id": "rs1188043696", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1188043696" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 17, "end_pos": 17, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TLS->NLS).", "chr_id": "3", "chr_pos": "197514347", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T17", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767131775", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767131775" }, { "id": "rs767131775", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767131775" }, { "id": "rs767131775", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767131775" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 219, "end_pos": 219, "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->*).", "chr_id": "3", "chr_pos": "197512271", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S219", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767131775", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767131775" }, { "id": "rs767131775", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767131775" }, { "id": "rs767131775", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767131775" }, { "id": "rs767131775", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767131775" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 219, "end_pos": 219, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->L).", "chr_id": "3", "chr_pos": "197512271", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S219", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "81.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000161267", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000161267" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "82.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000161267", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000161267" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "79.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000161267", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000161267" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "65.15", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000161267", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000161267" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "86.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000161267", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000161267" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "97.3", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000161267", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000161267" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "81.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000161267", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000161267" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "81.08", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000161267", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000161267" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "89.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000161267", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000161267" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "56.19", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000161267", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000161267" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "95.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000161267", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000161267" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "92.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000161267", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000161267" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "86.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000161267", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000161267" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q02338", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q02338" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic 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"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 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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, 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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": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q02338", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q02338" } ], "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": "Q02338", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q02338" } ], "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 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"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": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "Q02338", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q02338" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"categories": [ "Protein" ] }, { "id": "C9JEB9-1", "url": "https://www.uniprot.org/uniprot/C9JEB9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JM78", "url": "https://www.uniprot.org/uniprot/C9JM78", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JM78-1", "url": "https://www.uniprot.org/uniprot/C9JM78-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JQ90", "url": "https://www.uniprot.org/uniprot/C9JQ90", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JQ90-1", "url": "https://www.uniprot.org/uniprot/C9JQ90-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9K0G7", "url": "https://www.uniprot.org/uniprot/C9K0G7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9K0G7-1", "url": "https://www.uniprot.org/uniprot/C9K0G7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PCG9", "url": "https://www.uniprot.org/uniprot/E9PCG9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PCG9-1", "url": "https://www.uniprot.org/uniprot/E9PCG9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C2W1", "url": "https://www.uniprot.org/uniprot/H7C2W1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C2W1-1", "url": "https://www.uniprot.org/uniprot/H7C2W1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q02338", "url": "https://www.uniprot.org/uniprot/Q02338", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q02338-1", "url": "https://www.uniprot.org/uniprot/Q02338-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLATRLSRPLSRLPGKTLSACDRENGARRPLLLGSTSFIPIGRRTYASAAEPVGSKAVLVTGCDSGFGFSLAKHLHSKGFLVFAGCLMKDKGHDGVKELDSLNSDRLRTVQLNVCSSEEVEKVVEIVRSSLKDPEKGMWGLVNNAGISTFGEVEFTSLETYKQVAEVNLWGTVRMTKSFLPLIRRAKGRVVNISSMLGRMANPARSPYCITKFGVEAFSDCLRYEMYPLGVKVSVVEPGNFIAATSLYSPESIQAIAKKMWEELPEVVRKDYGKKYFDEKIAKMETYCSSGSTDTSPVIDAVTHALTATTPYTRYHPMDYYWWLRMQIMTHLPGAISDMIYIR", "length": 343, "header": "sp|Q02338-1|BDH_HUMAN Isoform 1 of D-beta-hydroxybutyrate dehydrogenase, mitochondrial OS=Homo sapiens OX=9606 GN=BDH1 PE=1 SV=3 CANONICAL=Q02338-1" }, "isoforms": [ { "isoform_ac": "A0A0G2JRX6-1", "url": "", "sequence": { "sequence": "MLATRLSRPLSRLPGKTLSACDRENGARRPLLLGSTSFIPIGRRTYASAAEPVGSKAVLVTGCDSGFGFSLAKHLHSKGFLVFAGCLMKDKGHDGVKELDSLNSDRLRTVQLNVCSSEEVEKVVEIVRSSLKDPEKGMWGLVNNAGISTFGEVEFTSLETYKQVAEVNLWGTVRMTKSFLPLIRRAK", "length": 187, "header": "tr|A0A0G2JRX6-1|BDH_HUMAN Computationally mapped isoform of D-beta-hydroxybutyrate dehydrogenase, mitochondrial OS=Homo sapiens OX=9606 GN=BDH1 PE=1 SV=1 CANONICAL=Q02338-1" }, "locus": { "chromosome": "CHR_HSCHR3_2_CTG3", "start_pos": 197547845, "end_pos": 197515667, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000626799.2", "url": "https://www.ensembl.org/id/ENST00000626799.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000487163.1", "url": "https://www.ensembl.org/id/ENSP00000487163.1" } ] } }, { "isoform_ac": "A0A494C1C0-1", "url": "", "sequence": { "sequence": "MLATRLSRPLSRLPGKTLSACDRENGARATLGVMGIQTDALWMESFTSFGCTDHTILIT", "length": 59, "header": "tr|A0A494C1C0-1|BDH_HUMAN Computationally mapped isoform of D-beta-hydroxybutyrate dehydrogenase, mitochondrial OS=Homo sapiens OX=9606 GN=BDH1 PE=1 SV=1 CANONICAL=Q02338-1" }, "locus": { "chromosome": "3", "start_pos": 197546443, "end_pos": 197538859, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000651856.1", "url": "https://www.ensembl.org/id/ENST00000651856.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498996.1", "url": "https://www.ensembl.org/id/ENSP00000498996.1" } ] } }, { "isoform_ac": "C9JB83-1", "url": "", "sequence": { "sequence": "MLATRLSRPLSRLPGKTLSACDRENGARRPLLLGSTSFIPIGRRTYASAA", "length": 50, "header": "tr|C9JB83-1|BDH_HUMAN Computationally mapped isoform of D-beta-hydroxybutyrate dehydrogenase, mitochondrial OS=Homo sapiens OX=9606 GN=BDH1 PE=1 SV=2 CANONICAL=Q02338-1" }, "locus": { "chromosome": "3", "start_pos": 197546443, "end_pos": 197533495, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000445160.2", "url": "https://www.ensembl.org/id/ENST00000445160.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000405462.2", "url": "https://www.ensembl.org/id/ENSP00000405462.2" } ] } }, { "isoform_ac": "C9JEB9-1", "url": "", "sequence": { "sequence": "MLATRLSRPLSRLPGKTLSACDRENGARRPLLLGSTSFIPIGRRTYASAAEPVGSKAVLVTGCDSGFGFSLAKHLHSKGFLVFAGCLMK", "length": 89, "header": "tr|C9JEB9-1|BDH_HUMAN Computationally mapped isoform of D-beta-hydroxybutyrate dehydrogenase, mitochondrial OS=Homo sapiens OX=9606 GN=BDH1 PE=1 SV=1 CANONICAL=Q02338-1" }, "locus": { "chromosome": "CHR_HSCHR3_2_CTG3", "start_pos": 197547845, "end_pos": 197533814, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000627658.2", "url": "https://www.ensembl.org/id/ENST00000627658.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000487308.1", "url": "https://www.ensembl.org/id/ENSP00000487308.1" } ] } }, { "isoform_ac": "C9JM78-1", "url": "", "sequence": { "sequence": "MASNGIQKRRPLLLGSTSFIPIGRRTYASAAEPVGSKAVLVTGCDSGFGFSLAKHLHSKGFLVFAGCLMKDKGHDGVKELDSLNSDRLRTVQLNVCSSEEVEKVVEIVRSSLKDPEKGMWGLVNNAGISTFGEVEFTSLETYKQVAEVNLWGTVRMTKSFLPLIRRAK", "length": 168, "header": "tr|C9JM78-1|BDH_HUMAN Computationally mapped isoform of D-beta-hydroxybutyrate dehydrogenase, mitochondrial OS=Homo sapiens OX=9606 GN=BDH1 PE=1 SV=8 CANONICAL=Q02338-1" }, "locus": { "chromosome": "3", "start_pos": 197538331, "end_pos": 197514265, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000434143.5", "url": "https://www.ensembl.org/id/ENST00000434143.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000408685.1", "url": "https://www.ensembl.org/id/ENSP00000408685.1" } ] } }, { "isoform_ac": "C9JQ90-1", "url": "", "sequence": { "sequence": "MLATRLSRPLSRLPGKTLSACDRENGARRPLLLGSTSFIPIGRRTYASAAEPVGSKAVLVTGCDSGFGFSLAKHLHSKGFLVFAGCLMKDKGHDGVKELDSLNSDRLRTVQLNVCSSEEVEKVVEIVRSSLKDPEKGMWGLVNNAGISTFGEVEFTSLETYKQVAEVNLWGTVRMTKSFLPLIRRA", "length": 186, "header": "tr|C9JQ90-1|BDH_HUMAN Computationally mapped isoform of D-beta-hydroxybutyrate dehydrogenase, mitochondrial OS=Homo sapiens OX=9606 GN=BDH1 PE=1 SV=1 CANONICAL=Q02338-1" }, "locus": { "chromosome": "CHR_HSCHR3_2_CTG3", "start_pos": 197547845, "end_pos": 197515670, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000630698.2", "url": "https://www.ensembl.org/id/ENST00000630698.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000486552.1", "url": "https://www.ensembl.org/id/ENSP00000486552.1" } ] } }, { "isoform_ac": "C9K0G7-1", "url": "", "sequence": { "sequence": "MKDKGHDGVKELDSLNSDRLRTVQLNVCSSEEVEKVVEIVRSSLKDPEKGMWGLVNNAGISTFGEVEFTSLETYKQVAEVNLWGTVRMTKSFLPLIRRAKGRVVNISSMLGRMANPARSPYCITKFGVEAFSDCLRYEMYPLGVKVSVVEPGNFIAATSLYSPESI", "length": 166, "header": "tr|C9K0G7-1|BDH_HUMAN Computationally mapped isoform of D-beta-hydroxybutyrate dehydrogenase, mitochondrial OS=Homo sapiens OX=9606 GN=BDH1 PE=1 SV=1 CANONICAL=Q02338-1" }, "locus": { "chromosome": "3", "start_pos": 197532417, "end_pos": 197512168, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000446746.5", "url": "https://www.ensembl.org/id/ENST00000446746.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000387648.1", "url": "https://www.ensembl.org/id/ENSP00000387648.1" } ] } }, { "isoform_ac": "E9PCG9-1", "url": "", "sequence": { "sequence": "MKDKGHDGVKELDSLNSDRLRTVQLNVCSSEEVEKVVEIVRSSLKDPEKGMWGLVNNAGISTFGEVEFTSLETYKQVAEVNLWGTVRMTKSFLPLIRRAKGRVVNISSMLGRMANPARSPYCITKFGVEAFSDCLRYEMYPLGVKVSVVEPGNFIAATSLYSPESIQAIAKKMWEELPEVVRKDYGKKYFDEKIAKMETYCSSGSTDTSPVIDAVTHALTATTPYTRYHPMDYYWWLRMQIMTHLPGAISDMIYIR", "length": 256, "header": "tr|E9PCG9-1|BDH_HUMAN Computationally mapped isoform of D-beta-hydroxybutyrate dehydrogenase, mitochondrial OS=Homo sapiens OX=9606 GN=BDH1 PE=1 SV=1 CANONICAL=Q02338-1" }, "locus": { "chromosome": "3", "start_pos": 197532417, "end_pos": 197511898, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000441275.5", "url": "https://www.ensembl.org/id/ENST00000441275.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000411014.1", "url": "https://www.ensembl.org/id/ENSP00000411014.1" } ] } }, { "isoform_ac": "H7C2W1-1", "url": "", "sequence": { "sequence": "XAGISTFGEVEFTSLETYKQVAEVNLWGTVRMTKSFLPLIRRAKGEWERELPPAPEPAPRVHLCSEWKYLSQQLQCPQLSRGRVVNISSMLGRMANPARSPYCITKFGVEAFSDCLRYEMYPLGVKVSV", "length": 129, "header": "tr|H7C2W1-1|H7C2W1_HUMAN Computationally mapped isoform of 3-hydroxybutyrate dehydrogenase 1 OS=Homo sapiens OX=9606 GN=BDH1 PE=1 SV=1 CANONICAL=Q02338-1" }, "locus": { "chromosome": "3", "start_pos": 197514395, "end_pos": 197512222, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000455876.1", "url": "https://www.ensembl.org/id/ENST00000455876.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000408016.1", "url": "https://www.ensembl.org/id/ENSP00000408016.1" } ] } }, { "isoform_ac": "Q02338-1", "url": "", "sequence": { "sequence": "MLATRLSRPLSRLPGKTLSACDRENGARRPLLLGSTSFIPIGRRTYASAAEPVGSKAVLVTGCDSGFGFSLAKHLHSKGFLVFAGCLMKDKGHDGVKELDSLNSDRLRTVQLNVCSSEEVEKVVEIVRSSLKDPEKGMWGLVNNAGISTFGEVEFTSLETYKQVAEVNLWGTVRMTKSFLPLIRRAKGRVVNISSMLGRMANPARSPYCITKFGVEAFSDCLRYEMYPLGVKVSVVEPGNFIAATSLYSPESIQAIAKKMWEELPEVVRKDYGKKYFDEKIAKMETYCSSGSTDTSPVIDAVTHALTATTPYTRYHPMDYYWWLRMQIMTHLPGAISDMIYIR", "length": 343, "header": "sp|Q02338-1|BDH_HUMAN Isoform 1 of D-beta-hydroxybutyrate dehydrogenase, mitochondrial OS=Homo sapiens OX=9606 GN=BDH1 PE=1 SV=3 CANONICAL=Q02338-1" }, "locus": { "chromosome": "3", "start_pos": 197546443, "end_pos": 197511898, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000358186.6", "url": "https://www.ensembl.org/id/ENST00000358186.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000350914.2", "url": "https://www.ensembl.org/id/ENSP00000350914.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "predicted", "site_seq": "S", "relation": "attached", "comment": "O-linked (GlcNAc) serine O-GlcNAcylation", "start_pos": 219, "start_aa": "Ser", "end_pos": 219, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser219", "evidence": [ { "id": "Q02338", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q02338#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q02338", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q02338" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 246, "end_pos": 246, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q02338", "url": "https://www.uniprot.org/uniprot/Q02338" } ], "site_lbl": "Ser246" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Genetic basis of mitochondrial HMG-CoA synthase deficiency.", "journal": "Human genetics", "date": "2001", "authors": "Aledo R, Zschocke J, Pie J, Mir C, Fiesel S, Mayatepek E, Hoffmann GF, Casals N, Hegardt FG", "evidence": [ { "database": "Reactome", "id": "R-HSA-77111", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77111" } ], "reference": [ { "type": "PubMed", "id": "11479731", "url": "https://glygen.org/publication/PubMed/11479731" } ] }, { "title": "Cloning and characterization of a human orthologue of testis-specific succinyl CoA: 3-oxo acid CoA transferase (Scot-t) cDNA.", "journal": "Molecular human reproduction", "date": "2002", "authors": "Tanaka H, Kohroki J, Iguchi N, Onishi M, Nishimune Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-77108", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77108" } ], "reference": [ { "type": "PubMed", "id": "11756565", "url": "https://glygen.org/publication/PubMed/11756565" } ] }, { "title": "Expression of acetoacetyl-CoA synthetase, a novel cytosolic ketone body-utilizing enzyme, in human brain.", "journal": "Biochemical pharmacology", "date": "2003", "authors": "Ohgami M, Takahashi N, Yamasaki M, Fukui T", "evidence": [ { "database": "Reactome", "id": "R-HSA-77111", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77111" } ], "reference": [ { "type": "PubMed", "id": "12623130", "url": "https://glygen.org/publication/PubMed/12623130" } ] }, { "title": "Characterization of human DHRS6, an orphan short chain dehydrogenase/reductase enzyme: a novel, cytosolic type 2 R-beta-hydroxybutyrate dehydrogenase.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Guo K, Lukacik P, Papagrigoriou E, Meier M, Lee WH, Adamski J, Oppermann U", "evidence": [ { "database": "Reactome", "id": "R-HSA-77111", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77111" } ], "reference": [ { "type": "PubMed", "id": "16380372", "url": "https://glygen.org/publication/PubMed/16380372" } ] }, { "title": "Molecular cloning and characterization of (R)-3-hydroxybutyrate dehydrogenase from human heart.", "journal": "J. Biol. Chem.", "date": "1992", "authors": "Marks AR, McIntyre JO, Duncan TM, Erdjument-Bromage H, Tempst P, Fleischer S", "evidence": [ { "database": "UniProtKB", "id": "Q02338", "url": "https://www.uniprot.org/uniprot/Q02338" }, { "database": "Reactome", "id": "R-HSA-77111", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77111" } ], "reference": [ { "type": "PubMed", "id": "1639787", "url": "https://glygen.org/publication/PubMed/1639787" } ] }, { "title": "Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome.", "journal": "Journal of lipid research", "date": "2007", "authors": "Watkins PA, Maiguel D, Jia Z, Pevsner J", "evidence": [ { "database": "Reactome", "id": "R-HSA-77111", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77111" } ], "reference": [ { "type": "PubMed", "id": "17762044", "url": "https://glygen.org/publication/PubMed/17762044" } ] }, { "title": "Transcriptional regulation of the human acetoacetyl-CoA synthetase gene by PPARgamma.", "journal": "The Biochemical journal", "date": "2010", "authors": "Aguilo F, Camarero N, Relat J, Marrero PF, Haro D", "evidence": [ { "database": "Reactome", "id": "R-HSA-77111", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77111" } ], "reference": [ { "type": "PubMed", "id": "20102333", "url": "https://glygen.org/publication/PubMed/20102333" } ] }, { "title": "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.", "journal": "PloS one", "date": "2010", "authors": "Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ", "evidence": [ { "database": "RefSeq", "id": "NP_004042", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004042" } ], "reference": [ { "type": "PubMed", "id": "20877624", "url": "https://glygen.org/publication/PubMed/20877624" } ] }, { "title": "Differential utilization of ketone bodies by neurons and glioma cell lines: a rationale for ketogenic diet as experimental glioma therapy.", "journal": "BMC cancer", "date": "2011", "authors": "Maurer GD, Brucker DP, Bahr O, Harter PN, Hattingen E, Walenta S, Mueller-Klieser W, Steinbach JP, Rieger J", "evidence": [ { "database": "RefSeq", "id": "NP_004042", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004042" } ], "reference": [ { "type": "PubMed", "id": "21791085", "url": "https://glygen.org/publication/PubMed/21791085" } ] }, { "title": "Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol.", "journal": "Journal of lipid research", "date": "2012", "authors": "Arnedo M, Menao S, Puisac B, Teresa-Rodrigo ME, Gil-Rodriguez MC, Lopez-Vinas E, Gomez-Puertas P, Casals N, Casale CH, Hegardt FG, Pie J", "evidence": [ { "database": "Reactome", "id": "R-HSA-77111", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77111" } ], "reference": [ { "type": "PubMed", "id": "22847177", "url": "https://glygen.org/publication/PubMed/22847177" } ] }, { "title": "Identification and characterization of an extramitochondrial human 3-hydroxy-3-methylglutaryl-CoA lyase.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Montgomery C, Pei Z, Watkins PA, Miziorko HM", "evidence": [ { "database": "Reactome", "id": "R-HSA-77111", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77111" } ], "reference": [ { "type": "PubMed", "id": "22865860", "url": "https://glygen.org/publication/PubMed/22865860" } ] }, { "title": "Ketone body metabolism and cardiovascular disease.", "journal": "American journal of physiology. 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"field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "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_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "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_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 19 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }