{ "uniprot_canonical_ac": "P05166-1", "uniprot_ac": "P05166", "uniprot_id": "PCCB_HUMAN", "mass": { "chemical_mass": 58216.0, "monoisotopic_mass": 58216.0 }, "refseq": { "ac": "NP_000523", "name": "propionyl-CoA carboxylase beta chain, mitochondrial isoform 1 precursor", "summary": "The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000523" }, "gene_names": [ { "name": "PCCB", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P05166", "id": "P05166" }, { "name": "PCCB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000523", "id": "NP_000523" } ], "protein_names": [ { "name": "Propionyl-CoA carboxylase beta chain, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P05166" }, { "name": "6.4.1.3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05166" }, { "name": "PCCase subunit beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05166" }, { "name": "Propanoyl-CoA:carbon dioxide ligase subunit beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05166" }, { "name": "propionyl Coenzyme A carboxylase, beta polypeptide; propionyl-CoA carboxylase beta chain, mitochondrial; PCCase subunit beta; propanoyl-CoA:carbon dioxide ligase subunit beta; propionyl CoA carboxylase, beta polypeptide; propionyl-CoA carboxylase beta subunit", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000523", "id": "NP_000523" }, { "name": "propionyl-CoA carboxylase beta chain, mitochondrial isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000523", "id": "NP_000523" } ], "function": [ { "annotation": "A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue.", "evidence": [ { "database": "RefSeq", "id": "NP_000523", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000523" }, { "database": "PubMed", "id": "37776842", "url": "https://glygen.org/publication/PubMed/37776842" } ] }, { "annotation": "Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000523", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000523" }, { "database": "PubMed", "id": "33923806", "url": "https://glygen.org/publication/PubMed/33923806" } ] }, { "annotation": "Gene diagnosis and pedigree analysis of two Han ethnicity families with propionic acidemia in Fujian.", "evidence": [ { "database": "RefSeq", "id": "NP_000523", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000523" }, { "database": "PubMed", "id": "33725819", "url": "https://glygen.org/publication/PubMed/33725819" } ] }, { "annotation": "Human forebrain organoid-based multi-omics analyses of PCCB as a schizophrenia associated gene linked to GABAergic pathways. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000523", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000523" }, { "database": "PubMed", "id": "37620341", "url": "https://glygen.org/publication/PubMed/37620341" } ] }, { "annotation": "Novel variants of the PCCB gene in Chinese patients with propionic acidemia.", "evidence": [ { "database": "RefSeq", "id": "NP_000523", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000523" }, { "database": "PubMed", "id": "33798502", "url": "https://glygen.org/publication/PubMed/33798502" } ] }, { "annotation": "The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_000523", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000523" } ] }, { "annotation": "This is one of the 2 subunits of the biotin-dependent propionyl-CoA carboxylase (PCC), a mitochondrial enzyme involved in the catabolism of odd chain fatty acids, branched-chain amino acids isoleucine, threonine, methionine, and valine and other metabolites (PubMed:6765947, PubMed:15890657). Propionyl-CoA carboxylase catalyzes the carboxylation of propionyl-CoA/propanoyl-CoA to D-methylmalonyl-CoA/(S)-methylmalonyl-CoA (PubMed:6765947, PubMed:15890657). Within the holoenzyme, the alpha subunit catalyzes the ATP-dependent carboxylation of the biotin carried by the biotin carboxyl carrier (BCC) domain, while the beta subunit then transfers the carboxyl group from carboxylated biotin to propionyl-CoA (By similarity). Propionyl-CoA carboxylase also significantly acts on butyryl-CoA/butanoyl-CoA, which is converted to ethylmalonyl-CoA/(2S)-ethylmalonyl-CoA at a much lower rate (PubMed:6765947). Other alternative minor substrates include (2E)-butenoyl-CoA/crotonoyl-CoA (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P05166", "url": "https://www.uniprot.org/uniprot/P05166#function" }, { "database": "PubMed", "id": "6765947", "url": "https://glygen.org/publication/PubMed/6765947" }, { "database": "UniProtKB", "id": "P79384", "url": "https://www.uniprot.org/uniprot/P79384#function" }, { "database": "PubMed", "id": "15890657", "url": "https://glygen.org/publication/PubMed/15890657" }, { "database": "UniProtKB", "id": "Q168G2", "url": "https://www.uniprot.org/uniprot/Q168G2#function" } ] } ], "disease": [ { "disease_id": "DOID:14701", "recommended_name": { "id": "DOID:14701", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14701", "name": "propionic acidemia", "description": "An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of amino acids and fats into sugar for energy." }, "synonyms": [ { "id": "DOID:14701", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14701", "name": "GLYCINEMIA, KETOTIC", "description": "" }, { "id": "DOID:14701", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14701", "name": "KETOTIC HYPERGLYCINEMIA", "description": "" }, { "id": "DOID:14701", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14701", "name": "ketotic II glycinemia", "description": "" }, { "id": "DOID:14701", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14701", "name": "ketotic glycinemia", "description": "" }, { "id": "DOID:14701", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14701", "name": "propionic aciduria", "description": "" }, { "id": "DOID:14701", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14701", "name": "propionyl-CoA carboxylase deficiency", "description": "" }, { "id": "MONDO:0011628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011628", "name": "propionic acidemia", "description": "Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy." }, { "id": "MONDO:0011628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011628", "name": "GLYCINEMIA, ketotic", "description": "" }, { "id": "MONDO:0011628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011628", "name": "ketotic II glycinemia", "description": "" }, { "id": "MONDO:0011628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011628", "name": "ketotic glycinemia", "description": "" }, { "id": "MONDO:0011628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011628", "name": "ketotic hyperglycinemia", "description": "" }, { "id": "MONDO:0011628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011628", "name": "propionic acidemia", "description": "" }, { "id": "MONDO:0011628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011628", "name": "propionic aciduria", "description": "" }, { "id": "MONDO:0011628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011628", "name": "propionyl-CoA carboxylase deficiency", "description": "" }, { "id": "MONDO:0011628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011628", "name": "Glycinemia, ketotic", "description": "" }, { "id": "MONDO:0011628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011628", "name": "PCC deficiency", "description": "" }, { "id": "MONDO:0011628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011628", "name": "Propionicacidemia", "description": "" }, { "id": "MONDO:0011628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011628", "name": "hyperglycinemia with ketoacidosis and leukopenia", "description": "" }, { "id": "MONDO:0011628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011628", "name": "prop", "description": "" }, { "id": "MONDO:0011628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011628", "name": "propionyl-Coa carboxylase deficiency", "description": "" }, { "id": "MIM:606054", "resource": "MIM", "url": "https://www.omim.org/entry/606054", "name": "Propionic acidemia type I", "description": "Propionic acidemia type I" } ], "evidence": [ { "id": "606054", "database": "MIM", "url": "https://www.omim.org/entry/606054" } ] } ], "snv": [ { "evidence": [ { "id": "rs1394193747", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1394193747" }, { "id": "rs1394193747", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1394193747#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 132, "end_pos": 132, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SLS->NLS).", "chr_id": "3", "chr_pos": "136260501", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S132", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1420841667", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1420841667" }, { "id": "rs1420841667", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1420841667" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 212, "end_pos": 212, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DFT->NFT).", "chr_id": "3", "chr_pos": "136283927", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D212", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P05166", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05166" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 218, "end_pos": 218, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KDT->NDT).", "chr_id": "3", "chr_pos": "136283947", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K218", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs757258397", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757258397" }, { "id": "rs757258397", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757258397" }, { "id": "rs757258397", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757258397#frequency_tab" }, { "id": "rs757258397", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757258397" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 341, "end_pos": 341, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NII->NIT).", "chr_id": "3", "chr_pos": "136316996", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I341", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1230475924", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1230475924" }, { "id": "rs1230475924", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1230475924" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 350, "end_pos": 350, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGR->NGS).", "chr_id": "3", "chr_pos": "136317024", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R350", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1406431400", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1406431400" }, { "id": "rs1406431400", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1406431400" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 350, "end_pos": 350, "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGR->NGT).", "chr_id": "3", "chr_pos": "136317023", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R350", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757556772", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757556772" }, { "id": "rs757556772", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757556772" }, { "id": "rs757556772", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757556772" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 426, "end_pos": 426, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KVT->NVT).", "chr_id": "3", "chr_pos": "136327669", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K426", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1294710898", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1294710898" }, { "id": "rs1294710898", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1294710898" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 45, "end_pos": 45, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "3", "chr_pos": "136250509", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T45", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775930817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775930817" }, { "id": "rs775930817", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775930817" }, { "id": "rs775930817", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775930817" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 538, "end_pos": 538, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIP->NIS).", "chr_id": "3", "chr_pos": "136330018", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P538", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "92.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114054", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114054" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "79.35", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000114054", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114054" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "89.51", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114054", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114054" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "77.36", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000114054", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114054" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "86.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114054", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114054" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "94.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114054", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114054" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "88.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114054", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114054" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "83.68", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000114054", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114054" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "84.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114054", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114054" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "71.45", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000114054", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114054" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "95.15", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114054", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114054" } ] }, { "tissue": { "name": "Prostate gland", 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"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": 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"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", 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"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", 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"database": "BioXpress", "id": "P05166", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05166" } ], "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", 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P05166", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05166" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05166" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", 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"sequence": "MAAALRVAAVGARLSVLASGLRAAVRSLCSQATSVNERIENKRRTALLGGGQRRIDAQHKRGKLTARERISLLLDPGSFVESDMFVEHRCADFGMAADKNKFPGDSVVTGRGRINGRLVYVFSQDFTVFGGSLSGAHAQKICKIMDQAITVGAPVIGLNDSGGARIQEGVESLAGYADIFLRNVTASGVIPQISLIMGPCAGGAVYSPALTDFTFMVKDTSYLFITGPDVVKSVTNEDVTQEELGGAKTHTTMSGVAHRAFENDVDALCNLRDFFNYLPLSSQDPAPVRECHDPSDRLVPELDTIVPLESTKAYNMVDIIHSVVDEREFFEIMPNYAKNIIVGFARMNGRTVGIVGNQPKVASGCLDINSSVKGARFVRFCDAFNIPLITFVDVPGFLPGTAQEYGGIIRHGAKLLYAFAEATVPKVTVITRKAYGGAYDVMSSKHLCGDTNYAWPTAEIAVMGAKGAVEIIFKGHENVEAAQAEYIEKFANPFPAAVRGFVDDIIQPSSTRARICCDLDVLASKKVQRPWRKHANIPL", "length": 539, "header": "sp|P05166-1|PCCB_HUMAN Isoform 1 of Propionyl-CoA carboxylase beta chain, mitochondrial OS=Homo sapiens OX=9606 GN=PCCB PE=1 SV=3 CANONICAL=P05166-1" }, "isoforms": [ { "isoform_ac": "C9JAW3-1", "url": "", "sequence": { "sequence": "MFVEHRCADFGMAADKNKFPGDSVVTGRGRINGRLVYVFSQDFTVFGGSLSGAHAQKICKIMDQAITVGAPVIGLNDSGGARIQ", "length": 84, "header": "tr|C9JAW3-1|PCCB_HUMAN Computationally mapped isoform of Propionyl-CoA 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"MAAALRVAAVGARLSVLASGLRAAVRSLCSQATSVNERIENKRRTALLGGGQRRIDAQHKRGKLTARERISLLLDPGSFVESDMFVEHRCADFGMAADKNKFPGDSVVTGRGRINGRLVYVFSQDFTVFGGSLSGAHAQKICKIMDQAITVGAPVIGLNDSGGARIQEGVESLAGYADIFLRNVTASGVIPQISLIMGPCAGGAVYSPALTDFTFMVKDTSYLFITGPDVVKSVTNEDVTQEELGGAKTHTTMSGVAHRAFENDVDALCNLRDFFNYLPLSSQDPAPVRECHDPSDRLVPELDTIVPLESTKAYNMVDIIHSVVDEREFFEIMPNYAKNIIVGFARMNGRTVGIVGNQPKVASDSISFTPWNYARRQYRPYFAGCLDINSSVKGARFVRFCDAFNIPLITFVDVPGFLPGTAQEYGGIIRHGAKLLYAFAEATVPKVTVITRKAYGGAYDVMSSKHLCGDTNYAWPTAEIAVMGAKGAVEIIFKGHENVEAAQAEYIEKFANPFPAAVRGFVDDIIQPSSTRARICCDLDVLASKKVQRPWRKHANIPL", "length": 559, "header": "tr|C9JQS9-1|PCCB_HUMAN Computationally mapped isoform of Propionyl-CoA carboxylase beta chain, mitochondrial OS=Homo sapiens OX=9606 GN=PCCB PE=1 SV=1 CANONICAL=P05166-1" }, "locus": { "chromosome": "3", "start_pos": 136330023, "end_pos": 136250376, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000466072.5", "url": "https://www.ensembl.org/id/ENST00000466072.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000420158.1", "url": "https://www.ensembl.org/id/ENSP00000420158.1" } ] } }, { "isoform_ac": "C9JVW9-1", "url": "", "sequence": { "sequence": "MFVEHRCADFGMAADKNKFPGDSVVTGRGRINGRLVYVFSQDFTVFGGSLSGAHAQKICKIMDQAITVGAPVIGLNDSGGARIQEGVESLAGYADIFLRNVTASGVIPQISLIMGPCAGGAVYSPALTDFTFM", "length": 133, "header": "tr|C9JVW9-1|C9JVW9_HUMAN Computationally mapped isoform of Propionyl-CoA carboxylase subunit beta OS=Homo sapiens OX=9606 GN=PCCB PE=1 SV=8 CANONICAL=P05166-1" }, "locus": { "chromosome": "3", "start_pos": 136283941, "end_pos": 136255922, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000459873.1", "url": "https://www.ensembl.org/id/ENST00000459873.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000419293.1", "url": "https://www.ensembl.org/id/ENSP00000419293.1" } ] } }, { "isoform_ac": "C9JVY9-1", "url": "", "sequence": { "sequence": "MAAALRVAAVGARLSVLASGLRAAVRSLCSQATSVNERIENKRRTALLGGGQRRIDAQHKRARVQQLTATSASQLQAILLPQPPEYLGLQGKLTARERISLLLDPGSFVESDMFVEHRCADFGMAADKNKFPGDSVVTGRGRINGRLVYVFSQDFTVFGGSLSGAHAQKICKIMDQAITVGAPVIGLNDSG", "length": 191, "header": "tr|C9JVY9-1|PCCB_HUMAN Computationally mapped isoform of Propionyl-CoA carboxylase beta chain, mitochondrial OS=Homo sapiens OX=9606 GN=PCCB PE=1 SV=8 CANONICAL=P05166-1" }, "locus": { "chromosome": "3", "start_pos": 136262008, "end_pos": 136250376, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000465423.5", "url": "https://www.ensembl.org/id/ENST00000465423.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000419263.1", "url": "https://www.ensembl.org/id/ENSP00000419263.1" } ] } }, { "isoform_ac": "E7ENC1-1", "url": "", "sequence": { "sequence": "MAAALRVAAVGARLSVLASGLRAAVRSLCSQATSVNERIENKRRTALLGGGQRRIDAQHKRGKLTARERISLLLDPGSFVESDMFVEHRCADFGMAADKNKFPGDSVVTGRGRINGRLVYVFSQDFTVFGGSLSGAHAQKICKIMDQAITVGAPVIGLNDSGGARIQEGVESLAGYADIFLRNVTASGVIPQISLIMGPCAGGAVYSPALTDFTFMVKDTSYLFITGPDVVKSVTNEDVTQEELGGAKTHTTMSGVAHRAFENDVDALCNLRDFFNYLPLSSQDPAPVRECHDPSPTFCLWLH", "length": 303, "header": "tr|E7ENC1-1|PCCB_HUMAN Computationally mapped isoform of Propionyl-CoA carboxylase beta chain, mitochondrial OS=Homo sapiens OX=9606 GN=PCCB PE=1 SV=1 CANONICAL=P05166-1" }, "locus": { "chromosome": "3", "start_pos": 136334304, "end_pos": 136250376, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000478469.5", "url": "https://www.ensembl.org/id/ENST00000478469.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000420759.1", "url": "https://www.ensembl.org/id/ENSP00000420759.1" } ] } }, { "isoform_ac": "E7ETT1-1", "url": "", "sequence": { "sequence": "MAAALRVAAVGARLSVLASGLRAAVRSLCSQATSVNERIENKRRTALLGGGQRRIDAQHKRGKLTARERISLLLDPGSFVESDMFVEHRCADFGMAADKNKFPGDSVVTGRGRINGRLVYVFSQIMDQAITVGAPVIGLNDSGGARIQEGVESLAGYADIFLRNVTASGVIPQISLIMGPCAGGAVYSPALTDFTFMVKDTSYLFITGPDVVKSVTNEDVTQEELGGAKTHTTMSGVAHRAFENDVDALCNLRDFFNYLPLSSQDPAPVRECHDPSDRLVPELDTIVPLESTKAYNMVDIIHSVVDEREFFEIMPNYAKNIIVGFARMNGRTVGIVGNQPKVASGCLDINSSVKGARFVRFCDAFNIPLITFVDVPGFLPGTAQEYGGIIRHGAKLLYAFAEATVPKVTVITRKAYGGAYDVMSSKHLCGDTNYAWPTAEIAVMGAKGAVEIIFKGHENVEAAQAEYIEKFANPFPAAVRGFVDDIIQPSSTRARICCDLDVLASKKVQRPWRKHANIPL", "length": 520, "header": "tr|E7ETT1-1|PCCB_HUMAN Computationally mapped isoform of Propionyl-CoA carboxylase beta chain, mitochondrial OS=Homo sapiens OX=9606 GN=PCCB PE=1 SV=1 CANONICAL=P05166-1" }, "locus": { "chromosome": "3", "start_pos": 136330023, "end_pos": 136250376, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000483687.5", "url": "https://www.ensembl.org/id/ENST00000483687.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000420639.1", "url": "https://www.ensembl.org/id/ENSP00000420639.1" } ] } }, { "isoform_ac": "E7ETT4-1", "url": "", "sequence": { "sequence": "MAAALRVAAVGARLSVLASGLRAAVRSLCSQATSVNERIENKRRTALLGGGQRRIDAQHKRGKLTARERISLLLDPGSFVESDMFVEHRCADFGMAADKNKFPGDSVVTGRGRINGRLVYVFSQRNVTASGVIPQISLIMGPCAGGAVYSPALTDFTFMVKDTSYLFITGPDVVKSVTNEDVTQEELGGAKTHTTMSGVAHRAFENDVDALCNLRDFFNYLPLSSQDPAPVRECHDPSDRLVPELDTIVPLESTKAYNMVDIIHSVVDEREFFEIMPNYAKNIIVGFARMNGRTVGIVGNQPKVASGCLDINSSVKGARFVRFCDAFNIPLITFVDVPGFLPGTAQEYGGIIRHGAKLLYAFAEATVPKVTVITRKAYGGAYDVMSSKHLCGDTNYAWPTAEIAVMGAKGAVEIIFKGHENVEAAQAEYIEKFANPFPAAVRGFVDDIIQPSSTRARICCDLDVLASKKVQRPWRKHANIPL", "length": 482, "header": "tr|E7ETT4-1|PCCB_HUMAN Computationally mapped isoform of Propionyl-CoA carboxylase beta chain, mitochondrial OS=Homo sapiens OX=9606 GN=PCCB PE=1 SV=1 CANONICAL=P05166-1" }, "locus": { "chromosome": "3", "start_pos": 136330023, "end_pos": 136250376, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000490504.5", "url": "https://www.ensembl.org/id/ENST00000490504.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000418307.1", "url": "https://www.ensembl.org/id/ENSP00000418307.1" } ] } }, { "isoform_ac": "E7EUY3-1", "url": "", "sequence": { "sequence": "MAAALRVAAVGARLSVLASGLRAAVRSLCSQATSVNERIENKRRTALLGGGQRRIDAQHKRGKLTARERISLLLDPGSFVESDMFVEHRCADFGMAADKNKDFTVFGGSLSGAHAQKICKIMDQAITVGAPVIGLNDSGGARIQEGVESLAGYADIFLRNVTASGVIPQISLIMGPCAGGAVYSPALTDFTFMVKDTSYLFITGPDVVKSVTNEDVTQEELGGAKTHTTMSGVAHRAFENDVDALCNLRDFFNYLPLSSQDPAPVRECHDPSDRLVPELDTIVPLESTKAYNMVDIIHSVVDEREFFEIMPNYAKNIIVGFARMNGRTVGIVGNQPKVASGCLDINSSVKGARFVRFCDAFNIPLITFVDVPGFLPGTAQEYGGIIRHGAKLLYAFAEATVPKVTVITRKAYGGAYDVMSSKHLCGDTNYAWPTAEIAVMGAKGAVEIIFKGHENVEAAQAEYIEKFANPFPAAVRGFVDDIIQPSSTRARICCDLDVLASKKVQRPWRKHANIPL", "length": 516, "header": "tr|E7EUY3-1|PCCB_HUMAN Computationally mapped isoform of Propionyl-CoA carboxylase beta chain, mitochondrial OS=Homo sapiens OX=9606 GN=PCCB PE=1 SV=1 CANONICAL=P05166-1" }, "locus": { "chromosome": "3", "start_pos": 136330023, "end_pos": 136250376, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000462637.5", "url": "https://www.ensembl.org/id/ENST00000462637.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000420391.1", "url": "https://www.ensembl.org/id/ENSP00000420391.1" } ] } }, { "isoform_ac": "E7EX59-1", "url": "", "sequence": { "sequence": "MAAALRVAAVGARLSVLASGLRAAVRSLCSQATSVNERIENKRRTALLGGGQRRIDAQHKRGKLTARERISLLLDPGSFVESDMFVEHRCADFGMAADKNKFPGDSVVTGRGRINGRLVYVFSQIRASAMSPRLVSDSWTQAIHLPWPPKVLGLQDFTVFGGSLSGAHAQKICKIMDQAITVGAPVIGLNDSGGARIQEGVESLAGYADIFLRNVTASGVIPQISLIMGPCAGGAVYSPALTDFTFMVKDTSYLFITGPDVVKSVTNEDVTQEELGGAKTHTTMSGVAHRAFENDVDALCNLRDFFNYLPLSSQDPAPVRECHDPSDRLVPELDTIVPLESTKAYNMVDIIHSVVDEREFFEIMPNYAKNIIVGFARMNGRTVGIVGNQPKVASGCLDINSSVKGARFVRFCDAFNIPLITFVDVPGFLPGTAQEYGGIIRHGAKLLYAFAEATVPKVTVITRKAYGGAYDVMSSKHLCGDTNYAWPTAEIAVMGAKGAVEIIFKGHENVEAAQAEYIEKFANPFPAAVRGFVDDIIQPSSTRARICCDLDVLASKKVQRPWRKHANIPL", "length": 570, "header": "tr|E7EX59-1|PCCB_HUMAN Computationally mapped isoform of Propionyl-CoA carboxylase beta chain, mitochondrial OS=Homo sapiens OX=9606 GN=PCCB PE=1 SV=1 CANONICAL=P05166-1" }, "locus": { "chromosome": "3", "start_pos": 136330023, "end_pos": 136250376, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000468777.5", "url": "https://www.ensembl.org/id/ENST00000468777.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000419129.1", "url": "https://www.ensembl.org/id/ENSP00000419129.1" } ] } }, { "isoform_ac": "E9PDR0-1", "url": "", "sequence": { "sequence": "MAAALRVAAVGARLSVLASGLRAAVRSLCSQATSVNERIENKRRTALLGGGQRRIDAQHKRGKLTARERISLLLDPGSFVESDMFVEHRCADFGMAADKNKFPGDSVVTGRGRINGRLVYVFSQDFTVFGGSLSGAHAQKICKIMDQAITVGAPVIGLNDSGGARIQEGVESLAGYADIFLRNVTASGVIPQISLIMGPCAGGAVYSPALTDFTFMVKDTSYLFITGPDVVKSVTNEDVTQEELGGAKTHTTMSGVAHRAFENDVDALCNLRDFFNYLPLSSQDPAPVRECHDPSDRLVPELDTIVPLESTKAYNMVDIIHSVVDEREFFEIMPNYAKNIIVGFARMNGRTVGIVGNQPKVASGCLDINSSVKGARFVRFCDAFNIPLITFVDVPGFLPGTAQEYGGIIRHGAKLLYAFAEATVPKVTVITRKAYGGAYDVMSSKHLCGDTNYAWPTAEIAVMGAKGAVEIIFKGHENVEAAQAEYIEKFANPFPAAVRGFVDDIIQPSSTRARICCDLDVLASKKVRVQEVFHQVVQSGHRDGRGAVRW", "length": 550, "header": "tr|E9PDR0-1|PCCB_HUMAN Computationally mapped isoform of Propionyl-CoA carboxylase beta chain, mitochondrial OS=Homo sapiens OX=9606 GN=PCCB PE=1 SV=1 CANONICAL=P05166-1" }, "locus": { "chromosome": "3", "start_pos": 136333473, "end_pos": 136250376, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000471595.5", "url": "https://www.ensembl.org/id/ENST00000471595.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000417549.1", "url": "https://www.ensembl.org/id/ENSP00000417549.1" } ] } }, { "isoform_ac": "E9PEC3-1", "url": "", "sequence": { "sequence": "MAAALRVAAVGARLSVLASGLRAAVRSLCSQAITVGAPVIGLNDSGGARIQEGVESLAGYADIFLRNVTASGVIPQISLIMGPCAGGAVYSPALTDFTFMVKDTSYLFITGPDVVKSVTNEDVTQEELGGAKTHTTMSGVAHRAFENDVDALCNLRDFFNYLPLSSQDPAPVRECHDPSDRLVPELDTIVPLESTKAYNMVDIIHSVVDEREFFEIMPNYAKNIIVGFARMNGRTVGIVGNQPKVASGCLDINSSVKGARFVRFCDAFNIPLITFVDVPGFLPGTAQEYGGIIRHGAKLLYAFAEATVPKVTVITRKAYGGAYDVMSSKHLCGDTNYAWPTAEIAVMGAKGAVEIIFKGHENVEAAQAEYIEKFANPFPAAVRGFVDDIIQPSSTRARICCDLDVLASKKVQRPWRKHANIPL", "length": 423, "header": "tr|E9PEC3-1|PCCB_HUMAN Computationally mapped isoform of Propionyl-CoA carboxylase beta chain, mitochondrial OS=Homo sapiens OX=9606 GN=PCCB PE=1 SV=1 CANONICAL=P05166-1" }, "locus": { "chromosome": "3", "start_pos": 136330023, "end_pos": 136250376, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000482086.5", "url": "https://www.ensembl.org/id/ENST00000482086.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000417253.1", "url": "https://www.ensembl.org/id/ENSP00000417253.1" } ] } }, { "isoform_ac": "F8WBI9-1", "url": "", "sequence": { "sequence": "MAAALRVAAVGARLSVLASGLRAAVRSLCSQATSVNERIENKRRTALLGGGQRRIDAQHKRGKLTARERISLLLDPGSFVESDMFVEHRCADFGMAADKNKFPGDSVVTGRGRINGRLVYVFSQDFTVFGGSLSGAHAQKICKIMDQAITVGAPVIGLNDSGGARIQEGVESLAGYADIFLRNVTASGVIPQISLIMGPCAGGAVYSPALTDFTFMVKDTSYLFITGPDVVKSVTNEDVTQEELGGAKTHTTMSGVAHRAFENDVDALCNLRDFFNYLPLSSQDPAPVRECHDPSDRLVPELDTIVPLESTKAYNMVDIIHSVVDEREFFEIMPNYAKNIIVGFARMNGRTVGIVGNQPKVASGCLDINSSVKGARFVRFCDAFNIPLITFVDVPGFLPGLWRCL", "length": 405, "header": "tr|F8WBI9-1|PCCB_HUMAN Computationally mapped isoform of Propionyl-CoA carboxylase beta chain, mitochondrial OS=Homo sapiens OX=9606 GN=PCCB PE=1 SV=1 CANONICAL=P05166-1" }, "locus": { "chromosome": "3", "start_pos": 136327650, "end_pos": 136250376, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000484181.5", "url": "https://www.ensembl.org/id/ENST00000484181.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000417937.1", "url": "https://www.ensembl.org/id/ENSP00000417937.1" } ] } }, { "isoform_ac": "H7C5C9-1", "url": "", "sequence": { "sequence": "XESSWPSEISWAAHFGEGKLTARERISLLLDPGSFVESDMFVEHRCADFGMAADKNKFPGDSVVTGRGRINGRLVYVFSQDFTVFGGSLSGAHAQKICKIMDQAITVGAPVIGLNDSGGARIQEGVESLAGYADIFLRNVTASGVIPQISLIMGPCAGGAVYS", "length": 163, "header": "tr|H7C5C9-1|PCCB_HUMAN Computationally mapped isoform of Propionyl-CoA carboxylase beta chain, mitochondrial OS=Homo sapiens OX=9606 GN=PCCB PE=1 SV=1 CANONICAL=P05166-1" }, "locus": { "chromosome": "3", "start_pos": 136283914, "end_pos": 136251243, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000462542.5", "url": "https://www.ensembl.org/id/ENST00000462542.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000419563.1", "url": "https://www.ensembl.org/id/ENSP00000419563.1" } ] } }, { "isoform_ac": "P05166-1", "url": "", "sequence": { "sequence": "MAAALRVAAVGARLSVLASGLRAAVRSLCSQATSVNERIENKRRTALLGGGQRRIDAQHKRGKLTARERISLLLDPGSFVESDMFVEHRCADFGMAADKNKFPGDSVVTGRGRINGRLVYVFSQDFTVFGGSLSGAHAQKICKIMDQAITVGAPVIGLNDSGGARIQEGVESLAGYADIFLRNVTASGVIPQISLIMGPCAGGAVYSPALTDFTFMVKDTSYLFITGPDVVKSVTNEDVTQEELGGAKTHTTMSGVAHRAFENDVDALCNLRDFFNYLPLSSQDPAPVRECHDPSDRLVPELDTIVPLESTKAYNMVDIIHSVVDEREFFEIMPNYAKNIIVGFARMNGRTVGIVGNQPKVASGCLDINSSVKGARFVRFCDAFNIPLITFVDVPGFLPGTAQEYGGIIRHGAKLLYAFAEATVPKVTVITRKAYGGAYDVMSSKHLCGDTNYAWPTAEIAVMGAKGAVEIIFKGHENVEAAQAEYIEKFANPFPAAVRGFVDDIIQPSSTRARICCDLDVLASKKVQRPWRKHANIPL", "length": 539, "header": "sp|P05166-1|PCCB_HUMAN Isoform 1 of Propionyl-CoA carboxylase beta chain, mitochondrial OS=Homo sapiens OX=9606 GN=PCCB PE=1 SV=3 CANONICAL=P05166-1" }, "locus": { "chromosome": "3", "start_pos": 136330023, "end_pos": 136250376, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000251654.9", "url": "https://www.ensembl.org/id/ENST00000251654.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000251654.4", "url": "https://www.ensembl.org/id/ENSP00000251654.4" } ] } }, { "isoform_ac": "P05166-2", "url": "", "sequence": { "sequence": "MAAALRVAAVGARLSVLASGLRAAVRSLCSQATSVNERIENKRRTALLGGGQRRIDAQHKRGKLTARERISLLLDPGSFVESDMFVEHRCADFGMAADKNKFPGDSVVTGRGRINGRLVYVFSQQIIGWAQWLPLVISALWEAEDFTVFGGSLSGAHAQKICKIMDQAITVGAPVIGLNDSGGARIQEGVESLAGYADIFLRNVTASGVIPQISLIMGPCAGGAVYSPALTDFTFMVKDTSYLFITGPDVVKSVTNEDVTQEELGGAKTHTTMSGVAHRAFENDVDALCNLRDFFNYLPLSSQDPAPVRECHDPSDRLVPELDTIVPLESTKAYNMVDIIHSVVDEREFFEIMPNYAKNIIVGFARMNGRTVGIVGNQPKVASGCLDINSSVKGARFVRFCDAFNIPLITFVDVPGFLPGTAQEYGGIIRHGAKLLYAFAEATVPKVTVITRKAYGGAYDVMSSKHLCGDTNYAWPTAEIAVMGAKGAVEIIFKGHENVEAAQAEYIEKFANPFPAAVRGFVDDIIQPSSTRARICCDLDVLASKKVQRPWRKHANIPL", "length": 559, "header": "sp|P05166-2|PCCB_HUMAN Isoform 2 of Propionyl-CoA carboxylase beta chain, mitochondrial OS=Homo sapiens OX=9606 GN=PCCB PE=1 SV=3 CANONICAL=P05166-1" }, "locus": { "chromosome": "3", "start_pos": 136330023, "end_pos": 136250376, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000469217.5", "url": "https://www.ensembl.org/id/ENST00000469217.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000419027.1", "url": "https://www.ensembl.org/id/ENSP00000419027.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 45, "start_aa": "Thr", "end_pos": 45, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr45", "evidence": [ { "id": "P05166", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05166" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "P05166", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P05166" } ] } ], "phosphorylation": [ { "start_pos": 71, "end_pos": 71, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P05166", "url": "https://www.uniprot.org/uniprot/P05166" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P05166", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05166" } ], "site_lbl": "Ser71" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Human biotinidase isn't just for recycling biotin.", "journal": "The Journal of nutrition", "date": "1999", "authors": "Hymes J, Wolf B", "evidence": [ { "database": "Reactome", "id": "R-HSA-196780", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196780" } ], "reference": [ { "type": "PubMed", "id": "10064314", "url": "https://glygen.org/publication/PubMed/10064314" } ] }, { "title": "Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency.", "journal": "Human genetics", "date": "1999", "authors": "Aoki Y, Li X, Sakamoto O, Hiratsuka M, Akaishi H, Xu L, Briones P, Suormala T, Baumgartner ER, Suzuki Y, Narisawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371599" } ], "reference": [ { "type": "PubMed", "id": "10190325", "url": "https://glygen.org/publication/PubMed/10190325" } ] }, { "title": "Human placental Na+-dependent multivitamin transporter. Cloning, functional expression, gene structure, and chromosomal localization.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Wang H, Huang W, Fei YJ, Xia H, Yang-Feng TL, Leibach FH, Devoe LD, Ganapathy V, Prasad PD", "evidence": [ { "database": "Reactome", "id": "R-HSA-196780", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196780" } ], "reference": [ { "type": "PubMed", "id": "10329687", "url": "https://glygen.org/publication/PubMed/10329687" } ] }, { "title": "Molecular and functional characterization of the intestinal Na+-dependent multivitamin transporter.", "journal": "Archives of biochemistry and biophysics", "date": "1999", "authors": "Prasad PD, Wang H, Huang W, Fei YJ, Leibach FH, Devoe LD, Ganapathy V", "evidence": [ { "database": "Reactome", "id": "R-HSA-196780", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196780" } ], "reference": [ { "type": "PubMed", "id": "10334869", "url": "https://glygen.org/publication/PubMed/10334869" } ] }, { "title": "Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253. Online.", "journal": "Human mutation", "date": "1999", "authors": "Muro S, Rodriguez-Pombo P, Perez B, Perez-Cerda C, Desviat LR, Sperl W, Skladal D, Sass JO, Ugarte M", "evidence": [ { "database": "UniProtKB", "id": "P05166", "url": "https://www.uniprot.org/uniprot/P05166" } ], "reference": [ { "type": "PubMed", "id": "10447268", "url": "https://glygen.org/publication/PubMed/10447268" } ] }, { "title": "Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.", "journal": "Hum. 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Genet.", "date": "1993", "authors": "Ohura T, Ogasawara M, Ikeda H, Narisawa K, Tada K", "evidence": [ { "database": "UniProtKB", "id": "P05166", "url": "https://www.uniprot.org/uniprot/P05166" } ], "reference": [ { "type": "PubMed", "id": "8225321", "url": "https://glygen.org/publication/PubMed/8225321" } ] }, { "title": "Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia.", "journal": "Journal of inherited metabolic disease", "date": "1993", "authors": "Tahara T, Kraus JP, Ohura T, Rosenberg LE, Fenton WA", "evidence": [ { "database": "UniProtKB", "id": "P05166", "url": "https://www.uniprot.org/uniprot/P05166" } ], "reference": [ { "type": "PubMed", "id": "8411997", "url": "https://glygen.org/publication/PubMed/8411997" } ] }, { "title": "Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency.", "journal": "Human molecular genetics", "date": "1996", "authors": "Dupuis L, Leon-Del-Rio A, Leclerc D, Campeau E, Sweetman L, Saudubray JM, Herman G, Gibson KM, Gravel RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371599" } ], "reference": [ { "type": "PubMed", "id": "8817339", "url": "https://glygen.org/publication/PubMed/8817339" } ] }, { "title": "Biotinidase and its roles in biotin metabolism.", "journal": "Clinica chimica acta; international journal of clinical chemistry", "date": "1996", "authors": "Hymes J, Wolf B", "evidence": [ { "database": "Reactome", "id": "R-HSA-196780", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196780" } ], "reference": [ { "type": "PubMed", "id": "8930409", "url": "https://glygen.org/publication/PubMed/8930409" } ] }, { "title": "Identification of holocarboxylase synthetase (HCS) proteins in human placenta.", "journal": "Biochimica et biophysica acta", "date": "1998", "authors": "Hiratsuka M, Sakamoto O, Li X, Suzuki Y, Aoki Y, Narisawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-196780", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196780" } ], "reference": [ { "type": "PubMed", "id": "9630604", "url": "https://glygen.org/publication/PubMed/9630604" } ] }, { "title": "Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.", "journal": "American journal of human genetics", "date": "1998-08", "authors": "Rodr\u00edguez-Pombo P, Hoenicka J, Muro S, P\u00e9rez B, P\u00e9rez-Cerd\u00e1 C, Richard E, Desviat L R, Ugarte M", "evidence": [ { "database": "UniProtKB", "id": "P05166", "url": "https://www.uniprot.org/uniprot/P05166" } ], "reference": [ { "type": "PubMed", "id": "9683601", "url": "https://glygen.org/publication/PubMed/9683601" } ] } ], "pathway": [ { "id": "hsa:5096", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5096", "resource": "KEGG Pathway" }, { "id": "R-HSA-196780", "name": "Biotin transport and metabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196780", "resource": "Reactome", "description": "Biotin transport and metabolism" }, { "id": "R-HSA-3371599", "name": "Defective HLCS causes multiple carboxylase deficiency", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371599", "resource": "Reactome", "description": "Defective HLCS causes multiple carboxylase deficiency" }, { "id": "R-HSA-71032", "name": "Propionyl-CoA catabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71032", "resource": "Reactome", "description": "Propionyl-CoA catabolism" }, { "id": "R-HSA-9837999", "name": "Mitochondrial protein degradation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999", "resource": "Reactome", "description": "Mitochondrial protein degradation" } ], "orthologs": [ { "uniprot_canonical_ac": "P07633-1", "protein_name": "Propionyl-CoA carboxylase beta chain, mitochondrial", "gene_name": "Pccb", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAAVIRIRAMAAGTRLRVLNCGLGTTIRSLCSQPVSVNERIENKRHAALLGGGQRRIDAQHKRGKLTARERISLLLDPGSFLESDMFVEHRCADFGMAAEKNKFPGDSVVTGRGRINGRLVYVFSQDFTVFGGSLSGAHAQKICKIMDQAITVGAPVIGLNDSGGARIQEGVESLAGYADIFLRNVTASGVIPQISLIMGPCAGGAVYSPALTDFTFMVKDTSYLFITGPEFVKSVTNEDVTQEQLGGAKTHTTVSGVAHRAFDNDVDALCNLREFLNFLPLSNQDPASIRECHDPSDRLVPELDTVVPLESSKAYNMLDIIHAVIDEREFFEIMPNYAKNIVIGFARMNGRTVGIVGNQPNVASGCLDINSSVKGARFVRFCDAFSIPLITFVDVPGFLPGTAQEYGGIIRHGAKLLYAFAEATVPKITVITRKAYGGAYDVMSSKHLLGDTNYAWPTAEIAVMGAKGAVEIIFKGHEDVEAAQAEYVEKFANPFPAAVRGFVDDIIQPSSTRARICCDLEVLASKKVHRPWRKHANVPL", "length": 541 }, "evidence": [ { "id": "45924998", "url": "http://www.informatics.jax.org/homology/45924998", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P79384-1", "protein_name": "Propionyl-CoA carboxylase beta chain, mitochondrial", "gene_name": "PCCB", "tax_id": 9823, "organism": "Sus scrofa", "sequence": { "sequence": "MAAAVRVTAARARLRVVVRSLHAGVRSLCTQPVSVNERIENKRQAALLGGGQRRIDSQHKRGKLTARERISLLLDPGSFIESDMFVEHRCADFGMAADKNKFPGDSVVTGRGRINGRLVYVFSQDFTVFGGSLSGAHAQKICKIMDQAMTVGAPVIGLNDSGGARIQEGVESLAGYADIFLRNVSASGVIPQISLIMGPCAGGAVYSPALTDFTFMVKDTSYLFITGPDVVKSVTNEDVTQEELGGARTHTTMSGVAHRAFDNDVDALCNLREFFNYLPLSNQDPAPIRECHDPSDRLVPELDTVVPLESTRAYDMVDIIYSIVDERDFFEIMPNYAKNIIVGFARMNGRTVGIVGNQPKVASGCLDINSSVKGARFVRFCDAFNIPLITFVDVPGFLPGTAQEYGGIIRHGAKLLYAFAEATVPKITVITRKAYGGAYDVMSSKHLCGDTNYAWPTAEIAVMGAKGAVEIIFKGHENVEAAQAEYIEKFANPFPAAVRGFVDDIIQPSSTRARICCDLDVLASKKVQRPWRKHANIPL", "length": 539 }, "evidence": [ { "id": "P05166", "url": "https://omabrowser.org/oma/group/P05166/", "database": "OMA" } ], "common_name": "Pig" }, { "uniprot_canonical_ac": "Q99MN9-1", "protein_name": "Propionyl-CoA carboxylase beta chain, mitochondrial", "gene_name": "Pccb", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAAAIRIRAVAAGARLSVLNCGLGITTRGLCSQPVSVKERIDNKRHAALLGGGQRRIDAQHKRGKLTARERISLLLDPGSFMESDMFVEHRCADFGMAADKNKFPGDSVVTGRGRINGRLVYVFSQDFTVFGGSLSGAHAQKICKIMDQAITVGAPVIGLNDSGGARIQEGVESLAGYADIFLRNVTASGVIPQISLIMGPCAGGAVYSPALTDFTFMVKDTSYLFITGPEVVKSVTNEDVTQEQLGGAKTHTTVSGVAHRAFDNDVDALCNLREFFNFLPLSSQDPAPIRECHDPSDRLVPELDTVVPLESSKAYNMLDIIHAVIDEREFFEIMPSYAKNIVVGFARMNGRTVGIVGNQPNVASGCLDINSSVKGARFVRFCDAFNIPLITFVDVPGFLPGTAQEYGGIIRHGAKLLYAFAEATVPKITVITRKAYGGAYDVMSSKHLLGDTNYAWPTAEIAVMGAKGAVEIIFKGHQDVEAAQAEYVEKFANPFPAAVRGFVDDIIQPSSTRARICCDLEVLASKKVHRPWRKHANIPL", "length": 541 }, "evidence": [ { "id": "45924998", "url": "http://www.informatics.jax.org/homology/45924998", "database": "MGI" }, { "id": "P05166", "url": "https://omabrowser.org/oma/group/P05166/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "ligase activity", "id": "GO:0016874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016874", "evidence": [ { "database": "UniProtKB", "id": "P05166", "url": "https://www.uniprot.org/uniprot/P05166" } ], "pmid": "" }, { "name": "acetyl-CoA carboxylase activity", "id": "GO:0003989", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003989", "evidence": [ { "database": "UniProtKB", "id": "P05166", "url": "https://www.uniprot.org/uniprot/P05166" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P05166", "url": "https://www.uniprot.org/uniprot/P05166" } ], "pmid": "" }, { "name": "propionyl-CoA carboxylase activity", "id": "GO:0004658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004658", "evidence": [ { "database": "UniProtKB", "id": "P05166", "url": "https://www.uniprot.org/uniprot/P05166" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "acetyl-CoA carboxylase complex", "id": "GO:0009317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009317", "evidence": [ { "database": "UniProtKB", "id": "P05166", "url": "https://www.uniprot.org/uniprot/P05166" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P05166", "url": "https://www.uniprot.org/uniprot/P05166" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "P05166", "url": "https://www.uniprot.org/uniprot/P05166" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P05166", "url": "https://www.uniprot.org/uniprot/P05166" } ], "pmid": "" }, { "name": "catalytic complex", "id": "GO:1902494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902494", "evidence": [ { "database": "UniProtKB", "id": "P05166", "url": "https://www.uniprot.org/uniprot/P05166" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "P05166", "url": "https://www.uniprot.org/uniprot/P05166" } ], "pmid": "" }, { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "P05166", "url": "https://www.uniprot.org/uniprot/P05166" } ], "pmid": "" }, { "name": "branched-chain amino acid metabolic process", "id": "GO:0009081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009081", "evidence": [ { "database": "UniProtKB", "id": "P05166", "url": "https://www.uniprot.org/uniprot/P05166" } ], "pmid": "" }, { "name": "short-chain fatty acid catabolic process", "id": "GO:0019626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019626", "evidence": [ { "database": "UniProtKB", "id": "P05166", "url": "https://www.uniprot.org/uniprot/P05166" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 159, "end_pos": 161, "annotation": "n_glycosylation_sequon" }, { "start_pos": 183, "end_pos": 185, "annotation": "n_glycosylation_sequon" }, { "start_pos": 369, "end_pos": 371, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "23720", "name": "", "equation": "ATP + hydrogencarbonate + propanoyl-CoA = (S)-methylmalonyl-CoA + ADP + H(+) + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P07633-1", "P14882-1", "P05166-1", "P05165-1", "Q91ZA3-1", "Q99MN9-1", "Q553S7-1" ], "evidence": [ { "id": "23720", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/23720" } ] }, { "id": "59520", "name": "", "equation": "ATP + butanoyl-CoA + hydrogencarbonate = (2S)-ethylmalonyl-CoA + ADP + H(+) + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P07633-1", "P14882-1", "P05166-1", "P05165-1", "Q91ZA3-1", "Q99MN9-1" ], "evidence": [ { "id": "59520", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/59520" } ] }, { "id": "R-HSA-2993447", "name": "HLCS biotinylates 6x(PCCA:PCCB)", "equation": "", "summary": "Biotin (Btn) acts as a coenzyme to 4 carboxylases which exist in their inactive apo forms. These apo-carboxylases are biotinylated to their active halo forms by the activity of biotin-protein ligase (HCLS) (Ingaramo & Beckett 2012, Hiratsuka et al. 1998, Bailey et al. 2010). HCLS is localised to the cytosol and mitochondrion so can perform this activity in either of these locations. Defects in HLCS causes holocarboxylase synthetase deficiency (HLCS deficiency aka biotin-responsive multiple carboxylase deficiency; MIM:253270). HLCS deficiency is an autosomal recessive disorder whereby deficient HLCS activity results in reduced activity of multiple carboxylases. Symptoms include metabolic acidosis, organic aciduria, lethargy, hypotonia, convulsions and dermatitis (Suzuki et al. 2005). Propionyl-CoA carboxylase is most likely functional as a dodecamer, composed of six Btn-containing alpha subunits (PCCA) and six beta subunits (PCCB). The exact order in which this complex is constructed is unknown.", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P50747-1", "P05165-1", "P05166-1" ], "evidence": [ { "id": "R-HSA-2993447", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2993447" } ] }, { "id": "R-HSA-3065959", "name": "An unknown protease degrades hCBXs", "equation": "", "summary": "The mitochondrial holocarboxylases (hCBXs) propionyl-CoA carboxylase, methylcrotonoyl-CoA carboxylase and pyruvate carboxylase are degraded proteolytically to biocytin (BCTN aka biotinyl-lysine) or small biotinyl peptides (not shown here) (Chandler & Ballard 1985, Hymes & Wolf 1996, Hymes & Wolf 1999).", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P11498-1", "Q96RQ3-1", "Q9HCC0-1", "P05165-1", "P05166-1" ], "evidence": [ { "id": "R-HSA-3065959", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3065959" } ] }, { "id": "R-HSA-3323111", "name": "Cytoslic carboxylases translocate to mitochondrial matrix", "equation": "", "summary": "Once biotinylated, three halocarboxylases (hCBXs) are localised to the mitochondrial matrix. The mechanism of transfer is still unclear. Pyruvate carboxylase (PC) is required for gluconeogenesis, lipogenesis, neurotransmitter synthesis and insulin secretion; Methylcrotonyl-CoA carboxylase (MCC) is required for amino acid metabolism; propionyl-CoA carboxylase (PCC) is required for odd-chain fatty acid oxidation (Ingaramo & Beckett 2012, Hiratsuka et al. 1998, Bailey et al. 2010).", "cellular_location": "cytosol, mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P11498-1", "Q96RQ3-1", "Q9HCC0-1", "P05165-1", "P05166-1" ], "evidence": [ { "id": "R-HSA-3323111", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3323111" } ] }, { "id": "R-HSA-71031", "name": "propionyl-CoA + CO2 + ATP <=> D-methylmalonyl-CoA + ADP + orthophosphate", "equation": "", "summary": "Propionyl CoA carboxylase in the mitochondrial matrix catalyzes the reaction of propionyl-CoA, CO2, and ATP to form D-methylmalonyl-CoA, ADP, and orthophosphate. The active form of the enzyme is a heteromultimer, probably consisting of six alpha subunits each bound to a biotin molecule and six beta subunits (Kaziro et al. 1961; Kalousek et al. 1980; Fenton et al. 2001). Both alpha and beta subunits are posttranslationally modified to remove amino-terminal mitochondrial import sequences (Stadler et al. 2005).", "cellular_location": "mitochondrial matrix", "input_participant_list": [ "R-ALL-29376", "R-ALL-70843" ], "output_participant_list": [], "enzyme_list": [ "P05165-1", "P05166-1" ], "evidence": [ { "id": "R-HSA-71031", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71031" } ] }, { "id": "R-HSA-9035990", "name": "Defective HLCS does not biotinylate 6x(PCCA:PCCB)", "equation": "", "summary": "Biotin (Btn) acts as a coenzyme for 5 carboxylases that exist in their inactive apo forms. In the cytosol and mitochondrion, these apo carboxylases (apo-CBXs) are biotinylated to their active holo forms by the activity of biotin protein ligase (HCLS) (Ingaramo & Beckett 2012, Bailey et al. 2010, Hiratsuka et al. 1998). Propionyl-CoA carboxylase, most likely functional as a dodecamer, composed of six Btn-containing alpha subunits (PCCA) and six beta subunits (PCCB), is shown here. Defects in HLCS causes holocarboxylase synthetase deficiency (HLCS deficiency aka early-onset multiple carboxylase deficiency; MIM:253270). HLCS deficiency is an autosomal recessive disorder whereby deficient HLCS activity results in reduced activity of all 5 carboxylases. Symptoms include metabolic acidosis, organic aciduria, lethargy, hypotonia, convulsions and dermatitis. Mutations in HCLS associated with HLCS deficiency include the compound heterozygote G261Vfs*20/L237P, D571N, R508W, G581S, V550M and L216R (Suzuki et al. 1994, Yang et al. 2000, Dupuis et al. 1996, Aoki et al, 1999, Yang et al. 2001, Morrone et al. 2002).
", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P50747-1", "P05165-1", "P05166-1" ], "evidence": [ { "id": "R-HSA-9035990", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9035990" } ] }, { "id": "R-HSA-9838081", "name": "LONP1 degrades mitochondrial matrix proteins", "equation": "", "summary": "ATP hydrolysis drives translocation of the substrate protein to the active site of LONP1 (Ambro et al. 2014, Mohammed et al. 2022) where it induces the active conformation of LONP1 (Shin et al. 2021). LONP1 predominantly cleaves peptide bonds adjacent to hydrophobic amino acid residues (He et al. 2018). LONP1 degrades several mitochondrial matrix proteins (Lee et al. 2021), including steroidogenic acute regulatory protein (STAR) (Ondrovicova et al. 2005), the helicase TWNK (Twinkle, PEO1) (Kunova et al. 2017), oxidized aconitase (ACO2) (Bota and Davies 2002), HMGCS2 (Bai et al. 2023), and unassembled ribosomal subunits (Kunova et al. 2017). Phosphorylation of the HMG1 domain of TFAM prevents DNA binding and LONP1 specifically degrades TFAM that is not bound to DNA (Lu et al. 2013). LONP1 in association with mtHSP70 also possesses an ATP-dependent chaperone (protein folding) activity that is independent of its protease activity (Shin et al. 2021, Matsushima et al. 2021). A dominant mutation in LONP1 (c.901C>T; p.R301W) causes excessive protease activity and reduced chaperone activity that results in reduced mitochondrial function and encephalopathy (Besse et al. 2020). Mutations in LONP1 cause cerebral, ocular, dental, auricular, and skeletal anomalies (CODAS) syndrome (MIM 600373) (Dikoglu et al. 2015, Strauss et al. 2015).", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75390-1", "P54868-1", "P28331-1", "Q02218-1", "P07954-1", "Q4G0N4-1", "P11182-1", "P49753-1", "Q99714-1", "Q99798-1", "P45954-1", "P06576-1", "Q9UKU7-1", "P30837-1", "P05091-1", "P78540-1", "P22830-1", "Q9NWU1-1", "Q96RR1-1", "P55809-1", "P42126-1", "Q13011-1", "P10809-1", "P00367-1", "P36776-1", "P11177-1", "P24752-1", "P40926-1", "P05166-1", "P23368-1", "Q16836-1", "Q15118-1", "Q9NSE4-1" ], "evidence": [ { "id": "R-HSA-9838081", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9838081" } ] }, { "id": "R-HSA-9838093", "name": "LONP1 binds mitochondrial matrix proteins", "equation": "", "summary": "LONP1 binds substrate proteins and degrades them using an ATP-dependent mechanism (Mohammed et al. 2022). The binding of proteins to LONP1 can allosterically stimulate its ATPase activity (inferred from bacterial Lon proteases in Waxman et al. 1986, Lin et al. 2016). Human LONP1 binds, unfolds, and degrades several mitochondrial matrix proteins (Lee et al. 2021), including oxidized aconitase in which hydrophobic regions are exposed (Bota and Davies 2002). However, LONP1 is unable to degrade aggregated oxidized aconitase (Bota and Davies 2002). Steroidogenic acute regulatory protein (STAR) is directed to the mitochondrial matrix for degradation by LONP1 and other proteases (Ondrovicova et al. 2005, Granot et al. 2007). The mitochondrial large ribosome subunit MRPL32 is degraded by LONP1 when MRPL32 is not incorporated in the ribosome and hence not bound to nucleic acid (Kunova et al. 2017). Other ribosomal subunits appear to be similarly degraded (Kunova et al. 2017). The helicase TWNK (Twinkle, PEO1) is degraded by LONP1 regardless of its association with nucleic acid (Kunova et al. 2017). Other substrates of LONP1 may include SSBP1, MTERFD3, FASTKD2, and CLPX (Rend\u00f3n and Shoubridge 2018).", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75390-1", "P54868-1", "P28331-1", "Q02218-1", "P07954-1", "Q4G0N4-1", "P11182-1", "P49753-1", "Q99714-1", "Q99798-1", "P45954-1", "P06576-1", "Q9UKU7-1", "P30837-1", "P05091-1", "P78540-1", "P22830-1", "Q9NWU1-1", "Q96RR1-1", "P55809-1", "P42126-1", "Q13011-1", "P10809-1", "P00367-1", "P36776-1", "P11177-1", "P24752-1", "P40926-1", "P05166-1", "P23368-1", "Q16836-1", "Q15118-1", "Q9NSE4-1" ], "evidence": [ { "id": "R-HSA-9838093", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9838093" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-29376", "participant_name": "CO2 [mitochondrial matrix]", "crossref": [ { "id": "C00011", "database": "COMPOUND", "url": "" }, { "id": "16526", "database": "ChEBI", "url": "" }, { 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"000008551120", "database": "ZINC", "url": "" }, { "id": "C00100", "database": "COMPOUND", "url": "" }, { "id": "15539", "database": "ChEBI", "url": "" }, { "id": "5248", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "HMDB0001275", "database": "HMDB Metabolite", "url": "" }, { "id": "8143225", "database": "PubChem Substance", "url": "" }, { "id": "000008551120", "database": "ZINC", "url": "" }, { "id": "C00100", "database": "COMPOUND", "url": "" }, { "id": "15539", "database": "ChEBI", "url": "" }, { "id": "5248", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "HMDB0001275", "database": "HMDB Metabolite", "url": "" }, { "id": "8143225", "database": "PubChem Substance", "url": "" }, { "id": "000008551120", "database": "ZINC", "url": "" }, { "id": "C00100", "database": "COMPOUND", "url": "" }, { "id": "15539", "database": "ChEBI", "url": "" }, { "id": "5248", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "HMDB0001275", 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"ec_number": "2.3.3.1", "activity": "acetyl-CoA + H2O + oxaloacetate = citrate + CoA + H(+).", "evidence": [ { "id": "O75390", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75390" } ] }, { "ec_number": "2.3.3.1", "activity": "", "evidence": [ { "id": "O75390", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75390" } ] } ] }, { "uniprot_ac": "P00367", "gene_name": "GLUD1", "activity": [ { "ec_number": "1.4.1.3", "activity": "H2O + L-glutamate + NAD(+) = 2-oxoglutarate + H(+) + NADH + NH4(+).", "evidence": [ { "id": "P00367", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00367" } ] }, { "ec_number": "1.4.1.3", "activity": "", "evidence": [ { "id": "P00367", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00367" } ] } ] }, { "uniprot_ac": "P05091", "gene_name": "ALDH2", "activity": [ { "ec_number": "1.2.1.3", "activity": "an aldehyde + H2O + NAD(+) = a carboxylate + 2 H(+) + NADH.", "evidence": [ { "id": "P05091", 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}, { "ec_number": "6.4.1.3", "activity": "", "evidence": [ { "id": "P05166", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05166" } ] } ] }, { "uniprot_ac": "P06576", "gene_name": "ATP5F1B", "activity": [ { "ec_number": "7.1.2.2", "activity": "ATP + 4 H(+)(in) + H2O = ADP + 5 H(+)(out) + phosphate.", "evidence": [ { "id": "P06576", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06576" } ] }, { "ec_number": "7.1.2.2", "activity": "", "evidence": [ { "id": "P06576", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06576" } ] } ] }, { "uniprot_ac": "P07633", "gene_name": "Pccb", "activity": [ { "ec_number": "6.4.1.3", "activity": "ATP + hydrogencarbonate + propanoyl-CoA = (S)-methylmalonyl-CoA + ADP + H(+) + phosphate.", "evidence": [ { "id": "P07633", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07633" } ] }, { "ec_number": "6.4.1.3", "activity": "", "evidence": [ { "id": "P07633", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07633" } ] } ] }, { "uniprot_ac": "P07954", "gene_name": "FH", "activity": [ { "ec_number": "4.2.1.2", "activity": "(S)-malate = fumarate + H2O.", "evidence": [ { "id": "P07954", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07954" } ] }, { "ec_number": "4.2.1.2", "activity": "", "evidence": [ { "id": "P07954", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07954" } ] } ] }, { "uniprot_ac": "P10809", "gene_name": "HSPD1", "activity": [ { "ec_number": "5.6.1.7", "activity": "ATP + H2O + a folded polypeptide = ADP + phosphate + an unfolded polypeptide.", "evidence": [ { "id": "P10809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10809" } ] }, { "ec_number": "5.6.1.7", "activity": "", "evidence": [ { "id": "P10809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10809" } ] } ] }, { "uniprot_ac": "P11177", "gene_name": "PDHB", "activity": [ { "ec_number": "1.2.4.1", "activity": "H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase] + pyruvate = CO2 + N(6)-[(R)-S(8)-acetyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase].", "evidence": [ { "id": "P11177", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11177" } ] }, { "ec_number": "1.2.4.1", "activity": "", "evidence": [ { "id": "P11177", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11177" } ] } ] }, { "uniprot_ac": "P11182", "gene_name": "DBT", "activity": [ { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "P11182", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11182" } ] }, { "ec_number": "2.3.1.168", "activity": "2-methylpropanoyl-CoA + N(6)-[(R)-dihydrolipoyl]-L-lysyl-[protein] = CoA + N(6)-[(R)-S(8)-2-methylpropanoyldihydrolipoyl]-L-lysyl-[protein].", "evidence": [ { "id": "P11182", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11182" } ] }, { "ec_number": "2.3.1.168", "activity": "", "evidence": [ { "id": "P11182", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11182" } ] } ] }, { "uniprot_ac": "P11498", "gene_name": "PC", "activity": [ { "ec_number": "6.4.1.1", "activity": "ATP + hydrogencarbonate + pyruvate = ADP + H(+) + oxaloacetate + phosphate.", "evidence": [ { "id": "P11498", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11498" } ] }, { "ec_number": "6.4.1.1", "activity": "", "evidence": [ { "id": "P11498", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11498" } ] } ] }, { "uniprot_ac": "P14882", "gene_name": "Pcca", "activity": [ { "ec_number": "6.4.1.3", "activity": "ATP + hydrogencarbonate + propanoyl-CoA = (S)-methylmalonyl-CoA + ADP + H(+) + phosphate.", "evidence": [ { "id": "P14882", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14882" } ] }, { "ec_number": "6.4.1.3", "activity": "", "evidence": [ { "id": "P14882", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14882" } ] } ] }, { "uniprot_ac": "P22830", "gene_name": "FECH", "activity": [ { "ec_number": "4.98.1.1", "activity": "2 H(+) + heme b = Fe(2+) + protoporphyrin IX.", "evidence": [ { "id": "P22830", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22830" } ] }, { "ec_number": "4.98.1.1", "activity": "", "evidence": [ { "id": "P22830", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22830" } ] } ] }, { "uniprot_ac": "P23368", "gene_name": "ME2", "activity": [ { "ec_number": "1.1.1.38", "activity": "H(+) + oxaloacetate = CO2 + pyruvate.", "evidence": [ { "id": "P23368", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23368" } ] }, { "ec_number": "1.1.1.38", "activity": "", "evidence": [ { "id": "P23368", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23368" } ] } ] }, { "uniprot_ac": "P24752", "gene_name": "ACAT1", "activity": [ { "ec_number": "2.3.1.9", 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"https://www.uniprot.org/uniprot/P40926" } ] } ] }, { "uniprot_ac": "P42126", "gene_name": "ECI1", "activity": [ { "ec_number": "5.3.3.8", "activity": "a (3Z)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA.", "evidence": [ { "id": "P42126", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42126" } ] }, { "ec_number": "5.3.3.8", "activity": "", "evidence": [ { "id": "P42126", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42126" } ] } ] }, { "uniprot_ac": "P45954", "gene_name": "ACADSB", "activity": [ { "ec_number": "1.3.8.5", "activity": "2-methylbutanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E)-2-methylbut-2-enoyl-CoA + reduced [electron-transfer flavoprotein].", "evidence": [ { "id": "P45954", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P45954" } ] }, { "ec_number": "1.3.8.5", "activity": "", "evidence": [ { "id": "P45954", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P45954" } ] } ] }, { 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AMP + diphosphate + H(+) + holo-[propionyl-CoA:carbon-dioxide ligase (ADP-forming)].", "evidence": [ { "id": "P50747", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50747" } ] }, { "ec_number": "6.3.4.9", "activity": "apo-[methylmalonyl-CoA:pyruvate carboxytransferase] + ATP + biotin = AMP + diphosphate + H(+) + holo-[methylmalonyl-CoA:pyruvate carboxytransferase].", "evidence": [ { "id": "P50747", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50747" } ] }, { "ec_number": "6.3.4.11", "activity": "apo-[3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)] + ATP + biotin = AMP + diphosphate + H(+) + holo-[3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)].", "evidence": [ { "id": "P50747", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50747" } ] } ] }, { "uniprot_ac": "P54868", "gene_name": "HMGCS2", "activity": [ { "ec_number": "2.3.3.10", "activity": "acetoacetyl-CoA + acetyl-CoA + H2O = (3S)-hydroxy-3-methylglutaryl-CoA + CoA + H(+).", "evidence": [ { "id": "P54868", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54868" } ] }, { "ec_number": "2.3.3.10", "activity": "", "evidence": [ { "id": "P54868", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54868" } ] } ] }, { "uniprot_ac": "P55809", "gene_name": "OXCT1", "activity": [ { "ec_number": "2.8.3.5", "activity": "a 3-oxo acid + succinyl-CoA = a 3-oxoacyl-CoA + succinate.", "evidence": [ { "id": "P55809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55809" } ] }, { "ec_number": "2.8.3.5", "activity": "", "evidence": [ { "id": "P55809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55809" } ] } ] }, { "uniprot_ac": "P78540", "gene_name": "ARG2", "activity": [ { "ec_number": "3.5.3.1", "activity": "H2O + L-arginine = L-ornithine + urea.", "evidence": [ { "id": "P78540", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P78540" } ] }, { "ec_number": "3.5.3.1", "activity": "", "evidence": [ { "id": "P78540", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P78540" } ] } ] }, { "uniprot_ac": "Q02218", "gene_name": "OGDH", "activity": [ { "ec_number": "1.2.4.2", "activity": "2-oxoglutarate + H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue succinyltransferase] = CO2 + N(6)-[(R)-S(8)-succinyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue succinyltransferase].", "evidence": [ { "id": "Q02218", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q02218" } ] }, { "ec_number": "1.2.4.2", "activity": "", "evidence": [ { "id": "Q02218", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q02218" } ] } ] }, { "uniprot_ac": "Q13011", "gene_name": "ECH1", "activity": [ { "ec_number": "5.3.3.-", "activity": "", "evidence": [ { "id": "Q13011", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13011" } ] } ] }, { "uniprot_ac": "Q15118", "gene_name": "PDK1", "activity": [ { "ec_number": "2.7.11.-", "activity": "", "evidence": [ { "id": "Q15118", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15118" } ] }, { "ec_number": "2.7.11.2", "activity": "ATP + L-seryl-[pyruvate dehydrogenase E1 alpha subunit] = ADP + H(+) + O-phospho-L-seryl-[pyruvate dehydrogenase E1 alpha subunit].", "evidence": [ { "id": "Q15118", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15118" } ] }, { "ec_number": "2.7.11.2", "activity": "", "evidence": [ { "id": "Q15118", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15118" } ] } ] }, { "uniprot_ac": "Q16836", "gene_name": "HADH", "activity": [ { "ec_number": "1.1.1.35", "activity": "a (3S)-3-hydroxyacyl-CoA + NAD(+) = a 3-oxoacyl-CoA + H(+) + NADH.", "evidence": [ { "id": "Q16836", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16836" } ] }, { "ec_number": "1.1.1.35", "activity": "", "evidence": [ { "id": "Q16836", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16836" } ] } ] }, { "uniprot_ac": "Q4G0N4", "gene_name": "NADK2", "activity": [ { "ec_number": "2.7.1.23", "activity": "ATP + NAD(+) = ADP + H(+) + NADP(+).", "evidence": [ { "id": "Q4G0N4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q4G0N4" } ] }, { "ec_number": "2.7.1.23", "activity": "", "evidence": [ { "id": "Q4G0N4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q4G0N4" } ] } ] }, { "uniprot_ac": "Q553S7", "gene_name": "pccA", "activity": [ { "ec_number": "6.4.1.3", "activity": "ATP + hydrogencarbonate + propanoyl-CoA = (S)-methylmalonyl-CoA + ADP + H(+) + phosphate.", "evidence": [ { "id": "Q553S7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q553S7" } ] }, { "ec_number": "6.4.1.3", "activity": "", "evidence": [ { "id": "Q553S7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q553S7" } ] } ] }, { "uniprot_ac": "Q91ZA3", "gene_name": "Pcca", "activity": [ { "ec_number": "6.4.1.3", "activity": "ATP + hydrogencarbonate + propanoyl-CoA = (S)-methylmalonyl-CoA + ADP + H(+) + phosphate.", "evidence": [ { "id": "Q91ZA3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91ZA3" } ] }, { "ec_number": "6.4.1.3", "activity": "", "evidence": [ { "id": "Q91ZA3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91ZA3" } ] } ] }, { "uniprot_ac": "Q96RQ3", "gene_name": "MCCC1", "activity": [ { "ec_number": "6.4.1.4", "activity": "3-methyl-(2E)-butenoyl-CoA + ATP + hydrogencarbonate = 3-methyl-(2E)-glutaconyl-CoA + ADP + H(+) + phosphate.", "evidence": [ { "id": "Q96RQ3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96RQ3" } ] }, { "ec_number": "6.4.1.4", "activity": "", "evidence": [ { "id": "Q96RQ3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96RQ3" } ] } ] }, { "uniprot_ac": "Q96RR1", "gene_name": "TWNK", "activity": [ { "ec_number": "5.6.2.3", "activity": "Couples ATP hydrolysis with the unwinding of duplex DNA at the replication fork by translocating in the 5'-3' direction. 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"id": "Q99714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99714" } ] }, { "ec_number": "1.1.1.178", "activity": "(2S,3S)-3-hydroxy-2-methylbutanoyl-CoA + NAD(+) = 2-methyl-3-oxobutanoyl-CoA + H(+) + NADH.", "evidence": [ { "id": "Q99714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99714" } ] }, { "ec_number": "1.1.1.53", "activity": "5alpha-androstane-3alpha,17beta-diol + NAD(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADH.", "evidence": [ { "id": "Q99714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99714" } ] }, { "ec_number": "1.1.1.159", "activity": "cholate + NAD(+) = 3alpha,12alpha-dihydroxy-7-oxo-5beta-cholanate + H(+) + NADH.", "evidence": [ { "id": "Q99714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99714" } ] }, { "ec_number": "1.1.1.35", "activity": "", "evidence": [ { "id": "Q99714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99714" } ] } ] }, { 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hydrogencarbonate = 3-methyl-(2E)-glutaconyl-CoA + ADP + H(+) + phosphate.", "evidence": [ { "id": "Q9HCC0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9HCC0" } ] }, { "ec_number": "6.4.1.4", "activity": "", "evidence": [ { "id": "Q9HCC0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9HCC0" } ] } ] }, { "uniprot_ac": "Q9NSE4", "gene_name": "IARS2", "activity": [ { "ec_number": "6.1.1.5", "activity": "ATP + L-isoleucine + tRNA(Ile) = AMP + diphosphate + L-isoleucyl-tRNA(Ile).", "evidence": [ { "id": "Q9NSE4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NSE4" } ] }, { "ec_number": "6.1.1.5", "activity": "", "evidence": [ { "id": "Q9NSE4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NSE4" } ] } ] }, { "uniprot_ac": "Q9NWU1", "gene_name": "OXSM", "activity": [ { "ec_number": "2.3.1.41", "activity": "a fatty acyl-[ACP] + H(+) + malonyl-[ACP] = a 3-oxoacyl-[ACP] + CO2 + holo-[ACP].", "evidence": [ { 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