{ "uniprot_canonical_ac": "O75600-1", "uniprot_ac": "O75600", "uniprot_id": "KBL_HUMAN", "mass": { "chemical_mass": 45285.0, "monoisotopic_mass": 45285.0 }, "refseq": { "ac": "NP_001165161", "name": "2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform 1 precursor", "summary": "The degradation of L-threonine to glycine consists of a two-step biochemical pathway involving the enzymes L-threonine dehydrogenase and 2-amino-3-ketobutyrate coenzyme A ligase. L-Threonine is first converted into 2-amino-3-ketobutyrate by L-threonine dehydrogenase. This gene encodes the second enzyme in this pathway, which then catalyzes the reaction between 2-amino-3-ketobutyrate and coenzyme A to form glycine and acetyl-CoA. The encoded enzyme is considered a class II pyridoxal-phosphate-dependent aminotransferase. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 14. [provided by RefSeq, Jan 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165161" }, "gene_names": [ { "name": "GCAT", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75600", "id": "O75600" }, { "name": "GCAT", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165161", "id": "NP_001165161" }, { "name": "KBL", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165161", "id": "NP_001165161" }, { "name": "KBL", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75600", "id": "O75600" } ], "protein_names": [ { "name": "2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75600" }, { "name": "2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165161", "id": "NP_001165161" }, { "name": "2.3.1.29", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75600" }, { "name": "AKB ligase; aminoacetone synthase; 2-amino-3-ketobutyrate-CoA ligase; 2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial; glycine acetyltransferase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165161", "id": "NP_001165161" }, { "name": "AKB ligase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75600" }, { "name": "Aminoacetone synthase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75600" }, { "name": "Glycine acetyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75600" } ], "function": [ { "annotation": "Effect of gene on proliferation arrest in a non-small cell bronchopulmonary cancer line.", "evidence": [ { "database": "RefSeq", "id": "NP_001165161", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165161" }, { "database": "PubMed", "id": "12174908", "url": "https://glygen.org/publication/PubMed/12174908" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001165161", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165161" }, { "database": "PubMed", "id": "20877624", "url": "https://glygen.org/publication/PubMed/20877624" } ] }, { "annotation": "Pyridoxal phosphate (PLP) dependent enzyme, which catalyzes the cleavage of 2-amino-3-oxobutanoate to glycine and acetyl-CoA.", "evidence": [ { "database": "UniProtKB", "id": "O75600", "url": "https://www.uniprot.org/uniprot/O75600#function" }, { "database": "UniProtKB", "id": "Q0P5L8", "url": "https://www.uniprot.org/uniprot/Q0P5L8#function" } ] }, { "annotation": "The degradation of L-threonine to glycine consists of a two-step biochemical pathway involving the enzymes L-threonine dehydrogenase and 2-amino-3-ketobutyrate coenzyme A ligase. L-Threonine is first converted into 2-amino-3-ketobutyrate by L-threonine dehydrogenase. This gene encodes the second enzyme in this pathway, which then catalyzes the reaction between 2-amino-3-ketobutyrate and coenzyme A to form glycine and acetyl-CoA. The encoded enzyme is considered a class II pyridoxal-phosphate-dependent aminotransferase. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 14. [provided by RefSeq, Jan 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001165161", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165161" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "82.34", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100116", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100116" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "77.99", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100116", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100116" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "75.24", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100116", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100116" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "71.72", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100116", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100116" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "82.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100116", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100116" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "77.47", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100116", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100116" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "62.85", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100116", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100116" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "75.9", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100116", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100116" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "86.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100116", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100116" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "57.03", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000100116", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100116" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "86.77", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100116", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100116" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "90.3", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100116", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100116" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "78.38", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100116", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100116" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75600", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75600" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", 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"tr|F2Z340-1|KBL_HUMAN Computationally mapped isoform of 2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial OS=Homo sapiens OX=9606 GN=GCAT PE=1 SV=1 CANONICAL=O75600-1" }, "locus": { "chromosome": "22", "start_pos": 37812963, "end_pos": 37807968, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000426858.1", "url": "https://www.ensembl.org/id/ENST00000426858.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000402213.1", "url": "https://www.ensembl.org/id/ENSP00000402213.1" } ] } }, { "isoform_ac": "H7BZ75-1", "url": "", "sequence": { "sequence": "XGRRAQSALAQLRGILEGELEGIRGAGTWKSERVITSRQGPHIRVDGVSGGILNFCANNYLGLSSHPEVIQAGLQALEEFGAGLSSVRFICGTQSIHKNLEAKIARFHQREDAILYPSCYDANAGLFESRALVQPGTETRGPQREAQNTLPLYPEERPGWQYSFLICWSPGQGRSPGWLNDGSTLTASLQALLTPEDAVLSDELNHASIIDGIRLCKAHKYRYRHLDMADLEAKLQEAQ", "length": 239, "header": "tr|H7BZ75-1|KBL_HUMAN Computationally mapped isoform of 2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial OS=Homo sapiens OX=9606 GN=GCAT PE=1 SV=1 CANONICAL=O75600-1" }, "locus": { "chromosome": "22", "start_pos": 37813609, "end_pos": 37808014, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000451984.1", "url": "https://www.ensembl.org/id/ENST00000451984.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000388151.1", "url": "https://www.ensembl.org/id/ENSP00000388151.1" } ] } }, { "isoform_ac": "O75600-1", "url": "", "sequence": { "sequence": "MWPGNAWRAALFWVPRGRRAQSALAQLRGILEGELEGIRGAGTWKSERVITSRQGPHIRVDGVSGGILNFCANNYLGLSSHPEVIQAGLQALEEFGAGLSSVRFICGTQSIHKNLEAKIARFHQREDAILYPSCYDANAGLFEALLTPEDAVLSDELNHASIIDGIRLCKAHKYRYRHLDMADLEAKLQEAQKHRLRLVATDGAFSMDGDIAPLQEICCLASRYGALVFMDECHATGFLGPTGRGTDELLGVMDQVTIINSTLGKALGGASGGYTTGPGPLVSLLRQRARPYLFSNSLPPAVVGCASKALDLLMGSNTIVQSMAAKTQRFRSKMEAAGFTISGASHPICPVMLGDARLASRMADDMLKRGIFVIGFSYPVVPKGKARIRVQISAVHSEEDIDRCVEAFVEVGRLHGALP", "length": 419, "header": "sp|O75600-1|KBL_HUMAN Isoform 1 of 2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial OS=Homo sapiens OX=9606 GN=GCAT PE=1 SV=1 CANONICAL=O75600-1" }, "locus": { "chromosome": "22", "start_pos": 37816715, "end_pos": 37807968, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000248924.11", "url": "https://www.ensembl.org/id/ENST00000248924.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000248924.6", "url": "https://www.ensembl.org/id/ENSP00000248924.6" } ] } }, { "isoform_ac": "O75600-2", "url": "", "sequence": { "sequence": "MWPGNAWRAALFWVPRGRRAQSALAQLRGILEGELEGIRGAGTWKSERVITSRQGPHIRVDGVSGGPGTVIFPGLPLPHLSCCIHLLSFTSGILNFCANNYLGLSSHPEVIQAGLQALEEFGAGLSSVRFICGTQSIHKNLEAKIARFHQREDAILYPSCYDANAGLFEALLTPEDAVLSDELNHASIIDGIRLCKAHKYRYRHLDMADLEAKLQEAQKHRLRLVATDGAFSMDGDIAPLQEICCLASRYGALVFMDECHATGFLGPTGRGTDELLGVMDQVTIINSTLGKALGGASGGYTTGPGPLVSLLRQRARPYLFSNSLPPAVVGCASKALDLLMGSNTIVQSMAAKTQRFRSKMEAAGFTISGASHPICPVMLGDARLASRMADDMLKRGIFVIGFSYPVVPKGKARIRVQISAVHSEEDIDRCVEAFVEVGRLHGALP", "length": 445, "header": "sp|O75600-2|KBL_HUMAN Isoform 2 of 2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial OS=Homo sapiens OX=9606 GN=GCAT PE=1 SV=1 CANONICAL=O75600-1" }, "locus": { "chromosome": "22", "start_pos": 37816715, "end_pos": 37807968, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000323205.10", "url": "https://www.ensembl.org/id/ENST00000323205.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000371110.3", "url": "https://www.ensembl.org/id/ENSP00000371110.3" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Molecular cloning of the human and murine 2-amino-3-ketobutyrate coenzyme A ligase cDNAs.", "journal": "Eur. J. Biochem.", "date": "2000", "authors": "Edgar AJ, Polak JM", "evidence": [ { "database": "UniProtKB", "id": "O75600", "url": "https://www.uniprot.org/uniprot/O75600" }, { "database": "Reactome", "id": "R-HSA-8849175", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8849175" } ], "reference": [ { "type": "PubMed", "id": "10712613", "url": "https://glygen.org/publication/PubMed/10712613" } ] }, { "title": "Molecular cloning and tissue distribution of mammalian L-threonine 3-dehydrogenases.", "journal": "BMC biochemistry", "date": "2002", "authors": "Edgar AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8849175", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8849175" } ], "reference": [ { "type": "PubMed", "id": "12097150", "url": "https://glygen.org/publication/PubMed/12097150" } ] }, { "title": "Effect of four genes (ALDH1, NRF1, JAM and KBL) on proliferation arrest in a non-small cell bronchopulmonary cancer line.", "journal": "Anticancer research", "date": "2002", "authors": "Jacquot C, Lanco X, Carbonnelle D, Sevestre O, Tomasoni C, Briad G, Juget M, Roussis V, Roussakis C", "evidence": [ { "database": "RefSeq", "id": "NP_001165161", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165161" } ], "reference": [ { "type": "PubMed", "id": "12174908", "url": "https://glygen.org/publication/PubMed/12174908" } ] }, { "title": "The human L-threonine 3-dehydrogenase gene is an expressed pseudogene.", "journal": "BMC genetics", "date": "2002", "authors": "Edgar AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8849175", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8849175" } ], "reference": [ { "type": "PubMed", "id": "12361482", "url": "https://glygen.org/publication/PubMed/12361482" } ] }, { "title": "Crystal structure of the pyridoxal-5'-phosphate-dependent serine dehydratase from human liver.", "journal": "Protein science : a publication of the Protein Society", "date": "2005", "authors": "Sun L, Bartlam M, Liu Y, Pang H, Rao Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-8849175", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8849175" } ], "reference": [ { "type": "PubMed", "id": "15689518", "url": "https://glygen.org/publication/PubMed/15689518" } ] }, { "title": "Nuclear translocation of 2-amino-3-ketobutyrate coenzyme A ligase by cold and osmotic stress.", "journal": "Cell Stress Chaperones", "date": "2007", "authors": "Hoshino A, Fujii H", "evidence": [ { "database": "UniProtKB", "id": "O75600", "url": "https://www.uniprot.org/uniprot/O75600" } ], "reference": [ { "type": "PubMed", "id": "17688197", "url": "https://glygen.org/publication/PubMed/17688197" } ] }, { "title": "A catalytic mechanism that explains a low catalytic activity of serine dehydratase like-1 from human cancer cells: crystal structure and site-directed mutagenesis studies.", "journal": "Biochimica et biophysica acta", "date": "2008", "authors": "Yamada T, Komoto J, Kasuya T, Takata Y, Ogawa H, Mori H, Takusagawa F", "evidence": [ { "database": "Reactome", "id": "R-HSA-8849175", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8849175" } ], "reference": [ { "type": "PubMed", "id": "18342636", "url": "https://glygen.org/publication/PubMed/18342636" } ] }, { "title": "Cysteine S-conjugate beta-lyases: important roles in the metabolism of naturally occurring sulfur and selenium-containing compounds, xenobiotics and anticancer agents.", "journal": "Amino acids", "date": "2011", "authors": "Cooper AJ, Krasnikov BF, Niatsetskaya ZV, Pinto JT, Callery PS, Villar MT, Artigues A, Bruschi SA", "evidence": [ { "database": "Reactome", "id": "R-HSA-8849175", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8849175" } ], "reference": [ { "type": "PubMed", "id": "20306345", "url": "https://glygen.org/publication/PubMed/20306345" } ] }, { "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_001165161", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165161" } ], "reference": [ { "type": "PubMed", "id": "20877624", "url": "https://glygen.org/publication/PubMed/20877624" } ] }, { "title": "Conserved YjgF protein family deaminates reactive enamine/imine intermediates of pyridoxal 5'-phosphate (PLP)-dependent enzyme reactions.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Lambrecht JA, Flynn JM, Downs DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-8849175", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8849175" } ], "reference": [ { "type": "PubMed", "id": "22094463", "url": "https://glygen.org/publication/PubMed/22094463" } ] }, { "title": "RidA proteins prevent metabolic damage inflicted by PLP-dependent dehydratases in all domains of life.", "journal": "mBio", "date": "2013", "authors": "Lambrecht JA, Schmitz GE, Downs DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-8849175", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8849175" } ], "reference": [ { "type": "PubMed", "id": "23386433", "url": "https://glygen.org/publication/PubMed/23386433" } ] }, { "title": "Genomic and experimental evidence for multiple metabolic functions in the RidA/YjgF/YER057c/UK114 (Rid) protein family.", "journal": "BMC genomics", "date": "2015", "authors": "Niehaus TD, Gerdes S, Hodge-Hanson K, Zhukov A, Cooper AJ, ElBadawi-Sidhu M, Fiehn O, Downs DM, Hanson AD", "evidence": [ { "database": "Reactome", "id": "R-HSA-8849175", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8849175" } ], "reference": [ { "type": "PubMed", "id": "25975565", "url": "https://glygen.org/publication/PubMed/25975565" } ] }, { "title": "Interaction between L-threonine dehydrogenase and aminoacetone synthetase and mechanism of aminoacetone production.", "journal": "The Journal of biological chemistry", "date": "1986", "authors": "Tressel T, Thompson R, Zieske LR, Menendez MI, Davis L", "evidence": [ { "database": "Reactome", "id": "R-HSA-8849175", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8849175" } ], "reference": [ { "type": "PubMed", "id": "3536927", "url": "https://glygen.org/publication/PubMed/3536927" } ] }, { "title": "Purification and structural characterization of porcine L-threonine dehydrogenase.", "journal": "Protein expression and purification", "date": "1994", "authors": "Kao YC, Davis L", "evidence": [ { "database": "Reactome", "id": "R-HSA-8849175", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8849175" } ], "reference": [ { "type": "PubMed", "id": "7827500", "url": "https://glygen.org/publication/PubMed/7827500" } ] } ], "pathway": [ { "id": "hsa:23464", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23464", "resource": "KEGG Pathway" }, { "id": "R-HSA-8849175", "name": "Threonine catabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8849175", "resource": "Reactome", "description": "Threonine catabolism" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A0G2K2Q2-1", "protein_name": "Glycine C-acetyltransferase", "gene_name": "Gcat", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MWVNFLWRAALSPGRRAHSALAQLRCVLDRELEGIRGAGTWKSERVITSRQGPCIRVEGISGGILNFCANNYLGLSSHPEVIQAGLQALEEFGAGLSSTRFICGTQSIHKNLEAKIARFHQREDAILYPSCFDANTGLFEALLTPEDAVLSDELNHASVIDGIRLCKAHKYRYRHLDMADLEAKLKEAQKHRLRLVATDGAFSMDGDVAPLQEICRLAAQYGALVFVDECHATGFLGPTGRGTDELLGVMDQVTIINSTLGKALGGASGGYTTGPEPLISLMRQRSRPYLFSNSLPPAVVGCASKALDLLMESNTIVQSMAAKTRRFRSKMEAAGFTISGADHPICPVMLGDARLSSQMAEDMLKKGIFVIGFSYPVVPKGKARIRVQISAVHSEEDIDRCVEAFVEVGKLHGALP", "length": 416 }, "evidence": [ { "id": "O75600", "url": "https://omabrowser.org/oma/group/O75600/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "O88986-1", "protein_name": "2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial", "gene_name": "Gcat", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MWASFMWHGALSPGRRAHSALAQLRCILDSELEGIRGAGTWKSERVITSRQGPSIRVDGISGGILNFCANNYLGLSSHPAVIQAGLQTLEEFGAGLSSTRFICGTQSIHKNLEAKIAHFHQREDAILYPSCFDANAGLFEALLTPEDAVLSDELNHASIIDGIRLCKAHKYRYRHLDMADLEAKLKEAQKHRLRLVATDGAFSMDGDIAPLQDICRLAAQYGALVFVDECHATGFLGPTGRGTDELLGVMDQVTIINSTLGKALGGASGGYTTGPEPLVSLLRQRSRPYLFSNSLPPAVVGCASKALDLLMESNAIIQSMAAKTRRFRSKMEAAGFTVSGADHPICPVMLGDARLSSQMADDMLKKGIFVIGFSYPVVPKGKARIRVQISAVHSEEDIDRCVEAFVEVGRLHGALP", "length": 416 }, "evidence": [ { "id": "45920612", "url": "http://www.informatics.jax.org/homology/45920612", "database": "MGI" }, { "id": "O75600", "url": "https://omabrowser.org/oma/group/O75600/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9VTN9-1", "protein_name": "2.3.1.29", "gene_name": "Gcat", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MSIFSKSLLFRGVGGRHYSAAAQAQLREILGTQLAGIKDAGTFKAERIITSSQSTQITVQGSDKKILNFCANNYLGLANNPEIVEHSQKLLEQYGAGLSSVRFICGTQDIHKQLEKKIAQFHGREDTILYASCFDANAGIFEAILTPEDAVFSDELNHASIIDGIRLCKAKKQRYRHRDLGDLEEQLKASDARLKLIATDGVFSMDGNIAPLARIVELARKYNALVFVDECHATGFFGATGRGTEEYDNVMGEVDIINSTLGKALGGASGGYTTGPAELISFLRQKSRPYLFSNTLPPAVVAVGLKVMDMLLQSSELTQRVQSNTQRFRQAMTKAGFTIAGENHPICPVMLGDARLASQFADEMLTRGIYVIGFSYPVVPQGKARIRVQISAAHTEAEIDRAINAFIEVGRSLKVIK", "length": 417 }, "evidence": [ { "id": "O75600", "url": "https://omabrowser.org/oma/group/O75600/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "biosynthetic process", "id": "GO:0009058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009058", "evidence": [ { "database": "UniProtKB", "id": "O75600", "url": "https://www.uniprot.org/uniprot/O75600" } ], "pmid": "" }, { "name": "amino acid metabolic process", "id": "GO:0006520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006520", "evidence": [ { "database": "UniProtKB", "id": "O75600", "url": "https://www.uniprot.org/uniprot/O75600" } ], "pmid": "" }, { "name": "threonine catabolic process", "id": "GO:0006567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006567", "evidence": [ { "database": "UniProtKB", "id": "O75600", "url": "https://www.uniprot.org/uniprot/O75600" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "pyridoxal phosphate binding", "id": "GO:0030170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030170", "evidence": [ { "database": "UniProtKB", "id": "O75600", "url": "https://www.uniprot.org/uniprot/O75600" } ], "pmid": "" }, { "name": "glycine C-acetyltransferase activity", "id": "GO:0008890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008890", "evidence": [ { "database": "UniProtKB", "id": "O75600", "url": "https://www.uniprot.org/uniprot/O75600" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O75600", "url": "https://www.uniprot.org/uniprot/O75600" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O75600", "url": "https://www.uniprot.org/uniprot/O75600" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O75600", "url": "https://www.uniprot.org/uniprot/O75600" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "O75600", "url": "https://www.uniprot.org/uniprot/O75600" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "O75600", "url": "https://www.uniprot.org/uniprot/O75600" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 260, "end_pos": 262, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "20736", "name": "", "equation": "acetyl-CoA + glycine = (2S)-2-amino-3-oxobutanoate + CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75600-1", "O88986-1" ], "evidence": [ { "id": "20736", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/20736" } ] }, { "id": "R-HSA-6798345", "name": "PXLP-GCAT dimer ligates CoASH to 2A-3OB to form Gly and Ac-CoA", "equation": "", "summary": "The degradation of L-threonine to glycine in both prokaryotes and eukaryotes takes place through a two-step biochemical pathway. In the second step, mitochondrial 2-amino-3-ketobutyrate coenzyme A ligase (GCAT, aka KBL) catalyses the reaction between 2-amino-3-oxobutanoate (2A-3OBU) and coenzyme A (CoA-SH) to form glycine (Gly) and acetyl-CoA (Ac-CoA) (Edgar & Polak 2000). GCAT resides on the mitochondrial inner membrane and requires pyridoxal 5-phosphate (PXLP) as cofactor. It is strongly expressed in heart, brain, liver and pancreas. Dimeric GCAT:PXLP is thought to exist on the mitochondrial inner membrane in complex with tetrameric L-threonine 3-dehydrogenase (TDH), the first enzyme in this pathway (Tressel et al. 1986). With these two enzymes located together, it stops the rapid and spontaneous decarboxylation of 2A-3OBU to aminoacetone and carbon dioxide and instead, results in glycine formation.", "cellular_location": "mitochondrial inner membrane, mitochondrial matrix", "input_participant_list": [ "R-ALL-6798652" ], "output_participant_list": [], "enzyme_list": [ "O75600-1" ], "evidence": [ { "id": "R-HSA-6798345", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798345" } ] }, { "id": "R-HSA-6798667", "name": "TDH tetramer oxidises L-Thr to 2A-3OB", "equation": "", "summary": "The degradation of L-threonine to glycine in both prokaryotes and eukaryotes takes place through a two-step biochemical pathway. In the first step, L-threonine (L-Thr) is oxidised to 2-amino-3-oxobutanoate (2A-3OBU) using NAD+ as acceptor. This reaction is catalysed by mitochondrial L-threonine 3-dehydrogenase (TDH) (Edgar 2002). The human activity is inferred from the characterised porcine Tdh (Edgar 2002b, Kao & Davis 1994). TDH is thought to exist as a tetramer on the mitochondrial inner membrane in complex with dimeric 2-amino-3-ketobutyrate coenzyme A ligase (GCAT), the second enzyme in this pathway (Tressel et al. 1986). With these two enzymes located together, it stops the rapid and spontaneous decarboxylation of 2A-3OBU to aminoacetone and carbon dioxide and instead, results in glycine formation.", "cellular_location": "mitochondrial inner membrane, mitochondrial matrix", "input_participant_list": [ "R-ALL-379706" ], "output_participant_list": [], "enzyme_list": [ "O75600-1" ], "evidence": [ { "id": "R-HSA-6798667", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798667" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-379706", "participant_name": "L-Thr [mitochondrial matrix]", "crossref": [ { "id": "57926", "database": "ChEBI", "url": "" }, { "id": "000000895103", "database": "ZINC", "url": "" } ] }, { "participant_id": "R-ALL-6798652", "participant_name": "2A-3OBU [mitochondrial matrix]", "crossref": [ { "id": "78948", "database": "ChEBI", "url": "" }, { "id": "000000901672", "database": "ZINC", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O75600", "gene_name": "GCAT", "activity": [ { "ec_number": "2.3.1.29", "activity": "acetyl-CoA + glycine = (2S)-2-amino-3-oxobutanoate + CoA.", "evidence": [ { "id": "O75600", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75600" } ] }, { "ec_number": "2.3.1.29", "activity": "", "evidence": [ { "id": "O75600", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75600" } ] } ] }, { "uniprot_ac": "O88986", "gene_name": "Gcat", "activity": [ { "ec_number": "2.3.1.29", "activity": "acetyl-CoA + glycine = (2S)-2-amino-3-oxobutanoate + CoA.", "evidence": [ { "id": "O88986", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O88986" } ] }, { "ec_number": "2.3.1.29", "activity": "", "evidence": [ { "id": "O88986", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O88986" } ] } ] } ], "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": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 260, "end_pos": 262 } ] }, "section_stats": [ { "table_id": "glycosylation", "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": "glycosylation_reported", "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": "glycosylation_reported_with_glycan", "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": "glycosylation_predicted", "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": "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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 14 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }