{ "uniprot_canonical_ac": "P05165-1", "uniprot_ac": "P05165", "uniprot_id": "PCCA_HUMAN", "mass": { "chemical_mass": 80059.0, "monoisotopic_mass": 80059.0 }, "refseq": { "ac": "NP_000273", "name": "propionyl-CoA carboxylase alpha chain, mitochondrial isoform a precursor", "summary": "The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. 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_000273" }, "gene_names": [ { "name": "PCCA", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P05165", "id": "P05165" }, { "name": "PCCA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000273", "id": "NP_000273" } ], "protein_names": [ { "name": "Propionyl-CoA carboxylase alpha chain, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P05165" }, { "name": "6.4.1.3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05165" }, { "name": "PCCase subunit alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05165" }, { "name": "Propanoyl-CoA:carbon dioxide ligase subunit alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05165" }, { "name": "propionyl Coenzyme A carboxylase, alpha polypeptide; propionyl-CoA carboxylase alpha chain, mitochondrial; PCCase alpha subunit; propanoyl-CoA:carbon dioxide ligase alpha subunit; pccA complementation group; propionyl-CoA carboxylase alpha subunit; propionyl CoA carboxylase, alpha polypeptide", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000273", "id": "NP_000273" }, { "name": "propionyl-CoA carboxylase alpha chain, mitochondrial isoform a precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000273", "id": "NP_000273" } ], "function": [ { "annotation": "A novel small molecule approach for the treatment of propionic and methylmalonic acidemias.", "evidence": [ { "database": "RefSeq", "id": "NP_000273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000273" }, { "database": "PubMed", "id": "33741272", "url": "https://glygen.org/publication/PubMed/33741272" } ] }, { "annotation": "Differentially expressed genes PCCA, ECHS1, and HADH are potential prognostic biomarkers for gastric cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_000273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000273" }, { "database": "PubMed", "id": "33881965", "url": "https://glygen.org/publication/PubMed/33881965" } ] }, { "annotation": "Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000273" }, { "database": "PubMed", "id": "33923806", "url": "https://glygen.org/publication/PubMed/33923806" } ] }, { "annotation": "His work represents a large-scale update on pathogenic mutations in the PCCA and PCCB genes causing Propionic acidemia (PA), and confirms previous reports indicating a major causative role of mutation-induced protein destabilization", "evidence": [ { "database": "RefSeq", "id": "NP_000273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000273" }, { "database": "PubMed", "id": "30274917", "url": "https://glygen.org/publication/PubMed/30274917" } ] }, { "annotation": "The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_000273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000273" } ] }, { "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:8434582, PubMed:6765947). Propionyl-CoA carboxylase catalyzes the carboxylation of propionyl-CoA/propanoyl-CoA to D-methylmalonyl-CoA/(S)-methylmalonyl-CoA (PubMed:8434582, PubMed:6765947, PubMed:10101253). 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": "P05165", "url": "https://www.uniprot.org/uniprot/P05165#function" }, { "database": "UniProtKB", "id": "Q5LUF3", "url": "https://www.uniprot.org/uniprot/Q5LUF3#function" }, { "database": "PubMed", "id": "6765947", "url": "https://glygen.org/publication/PubMed/6765947" }, { "database": "PubMed", "id": "10101253", "url": "https://glygen.org/publication/PubMed/10101253" }, { "database": "UniProtKB", "id": "P0DTA4", "url": "https://www.uniprot.org/uniprot/P0DTA4#function" }, { "database": "PubMed", "id": "8434582", "url": "https://glygen.org/publication/PubMed/8434582" } ] } ], "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": "P05165", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05165" } ], "glycoeffect": [], "start_pos": 230, "end_pos": 230, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "13", "chr_pos": "100257646", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R230", "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": "" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", 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"resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P05165", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05165" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P05165", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05165" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"categories": [ "Protein" ] }, { "id": "A0A1B0GWA1-1", "url": "https://www.uniprot.org/uniprot/A0A1B0GWA1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GWI4", "url": "https://www.uniprot.org/uniprot/A0A1B0GWI4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GWI4-1", "url": "https://www.uniprot.org/uniprot/A0A1B0GWI4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y725", "url": "https://www.uniprot.org/uniprot/A0A2R8Y725", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y725-1", "url": "https://www.uniprot.org/uniprot/A0A2R8Y725-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y4B9", "url": "https://www.uniprot.org/uniprot/H0Y4B9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y4B9-1", "url": "https://www.uniprot.org/uniprot/H0Y4B9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y5U0", "url": "https://www.uniprot.org/uniprot/H0Y5U0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y5U0-1", "url": "https://www.uniprot.org/uniprot/H0Y5U0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y798", "url": "https://www.uniprot.org/uniprot/H0Y798", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y798-1", "url": "https://www.uniprot.org/uniprot/H0Y798-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P05165", "url": "https://www.uniprot.org/uniprot/P05165", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P05165-1", "url": "https://www.uniprot.org/uniprot/P05165-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P05165-2", "url": "https://www.uniprot.org/uniprot/P05165-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P05165-3", "url": "https://www.uniprot.org/uniprot/P05165-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5JTW6", "url": "https://www.uniprot.org/uniprot/Q5JTW6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5JTW6-1", "url": "https://www.uniprot.org/uniprot/Q5JTW6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5JVH2", "url": "https://www.uniprot.org/uniprot/Q5JVH2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5JVH2-1", "url": "https://www.uniprot.org/uniprot/Q5JVH2-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKHVLYYSRQCLMVSRNLGSVGYDPNEKTFDKILVANRGEIACRVIRTCKKMGIKTVAIHSDVDASSVHVKMADEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPGYGFLSENKEFARCLAAEDVVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRDGFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQAVALARAVKYSSAGTVEFLVDSKKNFYFLEMNTRLQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRVYAEDPYKSFGLPSIGRLSQYQEPLHLPGVRVDSGIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTHNIALLREVIINSRFVKGDISTKFLSDVYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWELSVKLHDKVHTVVASNNGSVFSVEVDGSKLNVTSTWNLASPLLSVSVDGTQRTVQCLSREAGGNMSIQFLGTVYKVNILTRLAAELNKFMLEKVTEDTSSVLRSPMPGVVVAVSVKPGDAVAEGQEICVIEAMKMQNSMTAGKTGTVKSVHCQAGDTVGEGDLLVELE", "length": 728, "header": "sp|P05165-1|PCCA_HUMAN Isoform 1 of Propionyl-CoA carboxylase alpha chain, mitochondrial OS=Homo sapiens OX=9606 GN=PCCA PE=1 SV=4 CANONICAL=P05165-1" }, "isoforms": [ { "isoform_ac": "A0A1B0GTR1-1", "url": "", "sequence": { "sequence": "XRQCLMVSRNLGSVGYDPNEKTFDKILVANRGEIACRVIRTCKKMGIKTVAIHSDVDASSVHVKMADEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPGYGFLSENKEFARCLAAEDVVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIPGFDGVVKDAEEAVRIAREIDGVLLSLPRLECNGTISAHCNLCLPGSSDSPASASLVAGITGACHHAQLIFCIFSRDGVSLCWPGWSRTPDLR", "length": 245, "header": "tr|A0A1B0GTR1-1|PCCA_HUMAN Computationally mapped isoform of Propionyl-CoA carboxylase alpha chain, mitochondrial OS=Homo sapiens OX=9606 GN=PCCA PE=1 SV=1 CANONICAL=P05165-1" }, "locus": { "chromosome": "13", "start_pos": 100236699, "end_pos": 100102899, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637358.1", "url": "https://www.ensembl.org/id/ENST00000637358.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489804.1", "url": "https://www.ensembl.org/id/ENSP00000489804.1" } ] } }, { "isoform_ac": "A0A1B0GU58-1", "url": "", "sequence": { "sequence": "XRQCLMVSRNLGSVGYDPNEKTFDKILVANRGEIACRVIRTCKKMGIKTVAIHSDVDASSVHVKMADEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPGYGFLSENKEFARCLAAEDVVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRDGFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQAVALARAVKYSSAGTVEFLVDSKKNFYFLEMNTRLQVRVDSGIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTHNIALLREVIINSRFVKGDISTKFLSDVYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWELSVKLHDKVHTVVASNNGSVFSVEVDGSKLNVTSTWNLASPLLSVSVDGTQRTVQCLSREAGGNMSIQFLGTVYKVNILTRLAAELNKFMLEKVTEDTSSVLRSPMPGVVVAVSVKPGDAVAEGQEICVIEAMKMQNSMTAGKTGTVKSVHCQAGDTVGEGDLLVELE", "length": 615, "header": "tr|A0A1B0GU58-1|PCCA_HUMAN Computationally mapped isoform of Propionyl-CoA carboxylase alpha chain, mitochondrial OS=Homo sapiens OX=9606 GN=PCCA PE=1 SV=1 CANONICAL=P05165-1" }, "locus": { "chromosome": "13", "start_pos": 100530164, "end_pos": 100102899, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637657.1", "url": "https://www.ensembl.org/id/ENST00000637657.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489974.1", "url": "https://www.ensembl.org/id/ENSP00000489974.1" } ] } }, { "isoform_ac": "A0A1B0GUX9-1", "url": "", "sequence": { "sequence": "XRQCLMVSRNLGSVGYDPNEKTFDKILVANRGEIACRVIRTCKKMGIKTVAIHSDVDASSVHVKMADEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPGYGFLSENKEFARCLAAEDVVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRDGFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQAVALARAVKYSSAGTVEFLVDSKKNFYFLEMNTRLQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRVYAEDPYKSFGLPSIGRLSQYQEPLHLPGPSGQWHPTRK", "length": 398, "header": "tr|A0A1B0GUX9-1|PCCA_HUMAN Computationally mapped isoform of Propionyl-CoA carboxylase alpha chain, mitochondrial OS=Homo sapiens OX=9606 GN=PCCA PE=1 SV=1 CANONICAL=P05165-1" }, "locus": { "chromosome": "13", "start_pos": 100307224, "end_pos": 100102899, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636420.1", "url": "https://www.ensembl.org/id/ENST00000636420.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490290.1", "url": "https://www.ensembl.org/id/ENSP00000490290.1" } ] } }, { "isoform_ac": "A0A1B0GWA1-1", "url": "", "sequence": { "sequence": "XRQCLMVSRNLGSVGYDPNEKTFDKILVANRGEIACRVIRTCKKMGIKTVAIHSDVDASSVHVKMADEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPGYGFLSENKEFARCLAAEDVVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRDGFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQAVALARAVKYSSAGTVEFLVDSKKNFYFLEMNTRLQVLHIILHYFER", "length": 326, "header": "tr|A0A1B0GWA1-1|PCCA_HUMAN Computationally mapped isoform of Propionyl-CoA carboxylase alpha chain, mitochondrial OS=Homo sapiens OX=9606 GN=PCCA PE=1 SV=1 CANONICAL=P05165-1" }, "locus": { "chromosome": "13", "start_pos": 100330594, "end_pos": 100102899, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636475.1", "url": "https://www.ensembl.org/id/ENST00000636475.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490843.1", "url": "https://www.ensembl.org/id/ENSP00000490843.1" } ] } }, { "isoform_ac": "A0A1B0GWI4-1", "url": "", "sequence": { "sequence": "XRQCLMVSRNLGSVGYDPNEKTFDKILVANRGEIACRVIRTCKKMGIKTVAIHSDVDASSVHVKMADEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPGYGFLSENKEFARCLAAEDVVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRDGFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQAVALARAVKYSSAGTVEFLVDSKKNFYFLEMNTRLQVEVDGSKLNVTSTWNLASPLLSVSVDGTQRTVQCLSREAGGNMSIQFLGTVYKVNILTRLAAELNKFMLEKVTEDTSSVLRSPMPGVVVAVSVKPGDAVAEGQEICVIEAMKMQNSMTAGKTGTVKSVHCQAGDTVGEGDLLVELE", "length": 461, "header": "tr|A0A1B0GWI4-1|A0A1B0GWI4_HUMAN Computationally mapped isoform of Propionyl-CoA carboxylase alpha chain, mitochondrial OS=Homo sapiens OX=9606 GN=PCCA PE=1 SV=1 CANONICAL=P05165-1" }, "locus": { "chromosome": "13", "start_pos": 100530164, "end_pos": 100102899, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636366.1", "url": "https://www.ensembl.org/id/ENST00000636366.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490939.1", "url": "https://www.ensembl.org/id/ENSP00000490939.1" } ] } }, { "isoform_ac": "A0A2R8Y725-1", "url": "", "sequence": { "sequence": "MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKHVLYYSRQCLMVSRNLGSVGYDPNEKDLKILQVFGSSSFALLSPAAL", "length": 82, "header": "tr|A0A2R8Y725-1|PCCA_HUMAN Computationally mapped isoform of Propionyl-CoA carboxylase alpha chain, mitochondrial OS=Homo sapiens OX=9606 GN=PCCA PE=1 SV=1 CANONICAL=P05165-1" }, "locus": { "chromosome": "13", "start_pos": 100104526, "end_pos": 100089121, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000647303.1", "url": "https://www.ensembl.org/id/ENST00000647303.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495663.1", "url": "https://www.ensembl.org/id/ENSP00000495663.1" } ] } }, { "isoform_ac": "H0Y4B9-1", "url": "", "sequence": { "sequence": "XMPVIKPDIANWELSVKLHDKVHTVVASNNGSVFSVEVDGSKLNVTSTWNLASPLLSVSVDGTQRTVQCLSREAGGNMSIQFLGTVVAEGQEICVIEAMKMQNSMTAGKTGTVKSVHCQAGDTVGEGDLLVELE", "length": 134, "header": "tr|H0Y4B9-1|PCCA_HUMAN Computationally mapped isoform of Propionyl-CoA carboxylase alpha chain, mitochondrial OS=Homo sapiens OX=9606 GN=PCCA PE=1 SV=1 CANONICAL=P05165-1" }, "locus": { "chromosome": "13", "start_pos": 100530165, "end_pos": 100368472, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000458283.5", "url": "https://www.ensembl.org/id/ENST00000458283.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000390850.1", "url": "https://www.ensembl.org/id/ENSP00000390850.1" } ] } }, { "isoform_ac": "H0Y5U0-1", "url": "", "sequence": { "sequence": "XNISLCPEICFQKIESQVYFVRVDSGIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTHNIALLREVIINSRFVKGDISTKFLSDVYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENS", "length": 139, "header": "tr|H0Y5U0-1|PCCA_HUMAN Computationally mapped isoform of Propionyl-CoA carboxylase alpha chain, mitochondrial OS=Homo sapiens OX=9606 GN=PCCA PE=1 SV=1 CANONICAL=P05165-1" }, "locus": { "chromosome": "13", "start_pos": 100340258, "end_pos": 100305776, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000443601.1", "url": "https://www.ensembl.org/id/ENST00000443601.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000400740.1", "url": "https://www.ensembl.org/id/ENSP00000400740.1" } ] } }, { "isoform_ac": "H0Y798-1", "url": "", "sequence": { "sequence": "XNWELSVKLHDKVHTVVASNNGSVFSVEVDGSKLNVTSTWNLASPLLSVSVDGTQRTVQCLSREAGGNMSIQFLGTVPWRKLLD", "length": 84, "header": "tr|H0Y798-1|PCCA_HUMAN Computationally mapped isoform of Propionyl-CoA carboxylase alpha chain, mitochondrial OS=Homo sapiens OX=9606 GN=PCCA PE=1 SV=1 CANONICAL=P05165-1" }, "locus": { "chromosome": "13", "start_pos": 100491672, "end_pos": 100368499, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000413170.1", "url": "https://www.ensembl.org/id/ENST00000413170.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000411194.1", "url": "https://www.ensembl.org/id/ENSP00000411194.1" } ] } }, { "isoform_ac": "P05165-1", "url": "", "sequence": { "sequence": "MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKHVLYYSRQCLMVSRNLGSVGYDPNEKTFDKILVANRGEIACRVIRTCKKMGIKTVAIHSDVDASSVHVKMADEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPGYGFLSENKEFARCLAAEDVVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRDGFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQAVALARAVKYSSAGTVEFLVDSKKNFYFLEMNTRLQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRVYAEDPYKSFGLPSIGRLSQYQEPLHLPGVRVDSGIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTHNIALLREVIINSRFVKGDISTKFLSDVYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWELSVKLHDKVHTVVASNNGSVFSVEVDGSKLNVTSTWNLASPLLSVSVDGTQRTVQCLSREAGGNMSIQFLGTVYKVNILTRLAAELNKFMLEKVTEDTSSVLRSPMPGVVVAVSVKPGDAVAEGQEICVIEAMKMQNSMTAGKTGTVKSVHCQAGDTVGEGDLLVELE", "length": 728, "header": "sp|P05165-1|PCCA_HUMAN Isoform 1 of Propionyl-CoA carboxylase alpha chain, mitochondrial OS=Homo sapiens OX=9606 GN=PCCA PE=1 SV=4 CANONICAL=P05165-1" }, "locus": { "chromosome": "13", "start_pos": 100530163, "end_pos": 100089121, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000376285.6", "url": "https://www.ensembl.org/id/ENST00000376285.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000365462.1", "url": "https://www.ensembl.org/id/ENSP00000365462.1" } ] } }, { "isoform_ac": "P05165-2", "url": "", "sequence": { "sequence": "MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKTFDKILVANRGEIACRVIRTCKKMGIKTVAIHSDVDASSVHVKMADEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPGYGFLSENKEFARCLAAEDVVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRDGFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQAVALARAVKYSSAGTVEFLVDSKKNFYFLEMNTRLQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRVYAEDPYKSFGLPSIGRLSQYQEPLHLPGVRVDSGIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTHNIALLREVIINSRFVKGDISTKFLSDVYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWELSVKLHDKVHTVVASNNGSVFSVEVDGSKLNVTSTWNLASPLLSVSVDGTQRTVQCLSREAGGNMSIQFLGTVYKVNILTRLAAELNKFMLEKVTEDTSSVLRSPMPGVVVAVSVKPGDAVAEGQEICVIEAMKMQNSMTAGKTGTVKSVHCQAGDTVGEGDLLVELE", "length": 702, "header": "sp|P05165-2|PCCA_HUMAN Isoform 2 of Propionyl-CoA carboxylase alpha chain, mitochondrial OS=Homo sapiens OX=9606 GN=PCCA PE=1 SV=4 CANONICAL=P05165-1" }, "locus": { "chromosome": "13", "start_pos": 100530163, "end_pos": 100089121, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000376286.8", "url": "https://www.ensembl.org/id/ENST00000376286.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000365463.4", "url": "https://www.ensembl.org/id/ENSP00000365463.4" } ] } }, { "isoform_ac": "P05165-3", "url": "", "sequence": { "sequence": "MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKHVLYYSRQCLMVSRNLGSVGYDPNEKTFDKILVANRGEIACRVIRTCKKMGIKTVAIHSDVDASSVHVKMADEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPGYGFLSENKEFARCLAAEDVVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRDGFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQAVALARAVKYSSAGTVEFLVDSKKNFYFLEMNTRLQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRVYAEDPYKSFGLPSIGRLSQYQEPLHLPGVRVDSGIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTHNIALLREVIINSRFVKGDISTKFLSDVYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWELSVKLHDKVHTVVASNNGSVFSVEVDGSKLNVTSTWNLASPLLSVSVDGTQRTVQCLSREAGGNMSIQFLGTVVAEGQEICVIEAMKMQNSMTAGKTGTVKSVHCQAGDTVGEGDLLVELE", "length": 681, "header": "sp|P05165-3|PCCA_HUMAN Isoform 3 of Propionyl-CoA carboxylase alpha chain, mitochondrial OS=Homo sapiens OX=9606 GN=PCCA PE=1 SV=4 CANONICAL=P05165-1" }, "locus": { "chromosome": "13", "start_pos": 100530163, "end_pos": 100089121, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000376279.7", "url": "https://www.ensembl.org/id/ENST00000376279.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000365456.3", "url": "https://www.ensembl.org/id/ENSP00000365456.3" } ] } }, { "isoform_ac": "Q5JTW6-1", "url": "", "sequence": { "sequence": "GGIYFYHGRKGVTHNIALLREVIINSRFVKGDISTKFLSDVYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWELSVKLHDKVHTVVASNNGSVFSVEVDGSKLNVTSTWNLASPLLSVSVDGTQRTVQ", "length": 149, "header": "tr|Q5JTW6-1|PCCA_HUMAN Computationally mapped isoform of Propionyl-CoA carboxylase alpha chain, mitochondrial OS=Homo sapiens OX=9606 GN=PCCA PE=1 SV=1 CANONICAL=P05165-1" }, "locus": { "chromosome": "13", "start_pos": 100425731, "end_pos": 100293224, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000424527.5", "url": "https://www.ensembl.org/id/ENST00000424527.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000396050.1", "url": "https://www.ensembl.org/id/ENSP00000396050.1" } ] } }, { "isoform_ac": "Q5JVH2-1", "url": "", "sequence": { "sequence": "YKVNILTRLAAELNKFMLEKVTEDTSSVLRSPMPGVVVAVSVKPGDAATSSLSVEICLFWTFQVAEGQEICVIEAMKMQNSMTAGKTGTVKSVHCQAGDTVGEGDLLVELE", "length": 111, "header": "tr|Q5JVH2-1|PCCA_HUMAN Computationally mapped isoform of Propionyl-CoA carboxylase alpha chain, mitochondrial OS=Homo sapiens OX=9606 GN=PCCA PE=1 SV=1 CANONICAL=P05165-1" }, "locus": { "chromosome": "13", "start_pos": 100530163, "end_pos": 100515427, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000428969.1", "url": "https://www.ensembl.org/id/ENST00000428969.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000399413.1", "url": 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"https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Tyr634" } ], "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": "Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein.", "journal": "Biochimica et biophysica acta", "date": "1999", "authors": "Richard E, Desviat LR, Perez B, Perez-Cerda C, Ugarte M", "evidence": [ { "database": "UniProtKB", "id": "P05165", "url": "https://www.uniprot.org/uniprot/P05165" } ], "reference": [ { "type": "PubMed", "id": "10101253", "url": "https://glygen.org/publication/PubMed/10101253" } ] }, { "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": "Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia.", "journal": "Molecular genetics and metabolism", "date": "1999", "authors": "Campeau E, Dupuis L, Leon-Del-Rio A, Gravel R", "evidence": [ { "database": "UniProtKB", "id": "P05165", "url": "https://www.uniprot.org/uniprot/P05165" } ], "reference": [ { "type": "PubMed", "id": "10329019", "url": "https://glygen.org/publication/PubMed/10329019" } ] }, { "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": "Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.", "journal": "Hum. Mutat.", "date": "1999", "authors": "Ugarte M, P\u00e9rez-Cerd\u00e1 C, Rodr\u00edguez-Pombo P, Desviat L R, P\u00e9rez B, Richard E, Muro S, Campeau E, Ohura T, Gravel R A", "evidence": [ { "database": "UniProtKB", "id": "P05165", "url": "https://www.uniprot.org/uniprot/P05165" } ], "reference": [ { "type": "PubMed", "id": "10502773", "url": "https://glygen.org/publication/PubMed/10502773" } ] }, { "title": "The subcellular localization of acetyl-CoA carboxylase 2.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Abu-Elheiga L, Brinkley WR, Zhong L, Chirala SS, Woldegiorgis G, Wakil SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-196780", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196780" } ], "reference": [ { "type": "PubMed", "id": "10677481", "url": "https://glygen.org/publication/PubMed/10677481" } ] }, { "title": "Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations.", "journal": "Journal of human genetics", "date": "2000", "authors": "Yang X, Aoki Y, Li X, Sakamoto O, Hiratsuka M, Gibson KM, Kure S, Narisawa K, Matsubara Y, Suzuki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371599" } ], "reference": [ { "type": "PubMed", "id": "11185745", "url": "https://glygen.org/publication/PubMed/11185745" } ] }, { "title": "Identification of the human methylmalonyl-CoA racemase gene based on the analysis of prokaryotic gene arrangements. Implications for decoding the human genome.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Bobik TA, Rasche ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-71032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71032" } ], "reference": [ { "type": "PubMed", "id": "11481338", "url": "https://glygen.org/publication/PubMed/11481338" } ] }, { "title": "Structure of the PCCA gene and distribution of mutations causing propionic acidemia.", "journal": "Mol. Genet. Metab.", "date": "2001", "authors": "Campeau E, Desviat L R, Leclerc D, Wu X, P\u00e9rez B, Ugarte M, Gravel R A", "evidence": [ { "database": "UniProtKB", "id": "P05165", "url": "https://www.uniprot.org/uniprot/P05165" } ], "reference": [ { "type": "PubMed", "id": "11592820", "url": "https://glygen.org/publication/PubMed/11592820" } ] }, { "title": "Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.", "journal": "Human genetics", "date": "2001", "authors": "Yang X, Aoki Y, Li X, Sakamoto O, Hiratsuka M, Kure S, Taheri S, Christensen E, Inui K, Kubota M, Ohira M, Ohki M, Kudoh J, Kawasaki K, Shibuya K, Shintani A, Asakawa S, Minoshima S, Shimizu N, Narisawa K, Matsubara Y, Suzuki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371599" } ], "reference": [ { "type": "PubMed", "id": "11735028", "url": "https://glygen.org/publication/PubMed/11735028" } ] }, { "title": "Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.", "journal": "American journal of medical genetics", "date": "2002", "authors": "Morrone A, Malvagia S, Donati MA, Funghini S, Ciani F, Pela I, Boneh A, Peters H, Pasquini E, Zammarchi E", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371599" } ], "reference": [ { "type": "PubMed", "id": "12124727", "url": "https://glygen.org/publication/PubMed/12124727" } ] }, { "title": "Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Dobson CM, Wai T, Leclerc D, Wilson A, Wu X, Dore C, Hudson T, Rosenblatt DS, Gravel RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-71032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71032" } ], "reference": [ { "type": "PubMed", "id": "12438653", "url": "https://glygen.org/publication/PubMed/12438653" } ] }, { "title": "Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.", "journal": "Molecular genetics and metabolism", "date": "2003", "authors": "Perez B, Desviat LR, Rodriguez-Pombo P, Clavero S, Navarrete R, Perez-Cerda C, Ugarte M", "evidence": [ { "database": "UniProtKB", "id": "P05165", "url": "https://www.uniprot.org/uniprot/P05165" } ], "reference": [ { "type": "PubMed", "id": "12559849", "url": "https://glygen.org/publication/PubMed/12559849" } ] }, { "title": "Biotin uptake by human intestinal and liver epithelial cells: role of the SMVT system.", "journal": "American journal of physiology. Gastrointestinal and liver physiology", "date": "2003", "authors": "Balamurugan K, Ortiz A, Said HM", "evidence": [ { "database": "Reactome", "id": "R-HSA-196780", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196780" } ], "reference": [ { "type": "PubMed", "id": "12646417", "url": "https://glygen.org/publication/PubMed/12646417" } ] }, { "title": "Metabolism of propionic acid in animal tissues. VIII. Crystalline propionyl carboxylase.", "journal": "The Journal of biological chemistry", "date": "1961", "authors": "KAZIRO Y, OCHOA S, WARNER RC, CHEN JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-71032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71032" } ], "reference": [ { "type": "PubMed", "id": "13752080", "url": "https://glygen.org/publication/PubMed/13752080" } ] }, { "title": "Metabolism of propionic acid in animal tissues. IX. Methylmalonyl coenzyme A racemase.", "journal": "The Journal of biological chemistry", "date": "1962", "authors": "MAZUMDER R, SASAKAWA T, KAZIRO Y, OCHOA S", "evidence": [ { "database": "Reactome", "id": "R-HSA-71032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71032" } ], "reference": [ { "type": "PubMed", "id": "13934211", "url": "https://glygen.org/publication/PubMed/13934211" } ] }, { "title": "Expression and characterization of recombinant fungal acetyl-CoA carboxylase and isolation of a soraphen-binding domain.", "journal": "The Biochemical journal", "date": "2004", "authors": "Weatherly SC, Volrath SL, Elich TD", "evidence": [ { "database": "Reactome", "id": "R-HSA-196780", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196780" } ], "reference": [ { "type": "PubMed", "id": "14766011", "url": "https://glygen.org/publication/PubMed/14766011" } ] }, { "title": "Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.", "journal": "Molecular genetics and metabolism", "date": "2004", "authors": "Yang X, Sakamoto O, Matsubara Y, Kure S, Suzuki Y, Aoki Y, Yamaguchi S, Takahashi Y, Nishikubo T, Kawaguchi C, Yoshioka A, Kimura T, Hayasaka K, Kohno Y, Iinuma K, Ohura T", "evidence": [ { "database": "UniProtKB", "id": "P05165", "url": "https://www.uniprot.org/uniprot/P05165" } ], "reference": [ { "type": "PubMed", "id": "15059621", "url": "https://glygen.org/publication/PubMed/15059621" } ] }, { "title": "Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.", "journal": "Human mutation", "date": "2004", "authors": "Lerner-Ellis JP, Dobson CM, Wai T, Watkins D, Tirone JC, Leclerc D, Dore C, Lepage P, Gravel RA, Rosenblatt DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-71032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71032" } ], "reference": [ { "type": "PubMed", "id": "15523652", "url": "https://glygen.org/publication/PubMed/15523652" } ] }, { "title": "Mitochondrial targeting signals and mature peptides of 3-methylcrotonyl-CoA carboxylase.", "journal": "Biochem. 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Commun.", "date": "2005", "authors": "Stadler SC, Polanetz R, Meier S, Mayerhofer PU, Herrmann JM, Anslinger K, Roscher AA, Roschinger W, Holzinger A", "evidence": [ { "database": "UniProtKB", "id": "P05165", "url": "https://www.uniprot.org/uniprot/P05165" }, { "database": "Reactome", "id": "R-HSA-71032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71032" } ], "reference": [ { "type": "PubMed", "id": "16023992", "url": "https://glygen.org/publication/PubMed/16023992" } ] }, { "title": "Mutations in the holocarboxylase synthetase gene HLCS.", "journal": "Human mutation", "date": "2005", "authors": "Suzuki Y, Yang X, Aoki Y, Kure S, Matsubara Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-196780", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196780" } ], "reference": [ { "type": "PubMed", "id": "16134170", "url": "https://glygen.org/publication/PubMed/16134170" } ] }, { "title": "Evolutionary conservation of biotinidase: implications for the enzyme's structure and subcellular localization.", "journal": "Molecular genetics and metabolism", "date": "2005", "authors": "Wolf B, Jensen K", "evidence": [ { "database": "Reactome", "id": "R-HSA-196780", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196780" } ], "reference": [ { "type": "PubMed", "id": "16150625", "url": "https://glygen.org/publication/PubMed/16150625" } ] }, { "title": "Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.", "journal": "Human mutation", "date": "2006", "authors": "Worgan LC, Niles K, Tirone JC, Hofmann A, Verner A, Sammak A, Kucic T, Lepage P, Rosenblatt DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-71032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71032" } ], "reference": [ { "type": "PubMed", "id": "16281286", "url": "https://glygen.org/publication/PubMed/16281286" } ] }, { "title": "Assembly and protection of the radical enzyme, methylmalonyl-CoA mutase, by its chaperone.", "journal": "Biochemistry", "date": "2006", "authors": "Padovani D, Banerjee R", "evidence": [ { "database": "Reactome", "id": "R-HSA-71032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71032" } ], "reference": [ { "type": "PubMed", "id": "16866376", "url": "https://glygen.org/publication/PubMed/16866376" } ] }, { "title": "Crystal structures of human and Staphylococcus aureus pyruvate carboxylase and molecular insights into the carboxyltransfer reaction.", "journal": "Nature structural & molecular biology", "date": "2008", "authors": "Xiang S, Tong L", "evidence": [ { "database": "Reactome", "id": "R-HSA-196780", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196780" } ], "reference": [ { "type": "PubMed", "id": "18297087", "url": "https://glygen.org/publication/PubMed/18297087" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P05165-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05165-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Holocarboxylase synthetase: correlation of protein localisation with biological function.", "journal": "Archives of biochemistry and biophysics", "date": "2010", "authors": "Bailey LM, Wallace JC, Polyak SW", "evidence": [ { "database": "Reactome", "id": "R-HSA-196780", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196780" } ], "reference": [ { "type": "PubMed", "id": "20153287", "url": "https://glygen.org/publication/PubMed/20153287" } ] }, { "title": "Structural impact of human and Escherichia coli biotin carboxyl carrier proteins on biotin attachment.", "journal": "Biochemistry", "date": "2010", "authors": "Healy S, McDonald MK, Wu X, Yue WW, Kochan G, Oppermann U, Gravel RA", "evidence": [ { "database": "UniProtKB", "id": "P05165", "url": "https://www.uniprot.org/uniprot/P05165" } ], "reference": [ { "type": "PubMed", "id": "20443544", "url": "https://glygen.org/publication/PubMed/20443544" } ] }, { "title": "Crystal structure of the alpha(6)beta(6) holoenzyme of propionyl-coenzyme A carboxylase.", "journal": "Nature", "date": "2010", "authors": "Huang Christine S, Sadre-Bazzaz Kianoush, Shen Yang, Deng Binbin, Zhou Z Hong, Tong Liang", "evidence": [ { "database": "UniProtKB", "id": "P05165", "url": "https://www.uniprot.org/uniprot/P05165" } ], "reference": [ { "type": "PubMed", "id": "20725044", "url": "https://glygen.org/publication/PubMed/20725044" } ] }, { "title": "Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation.", "journal": "The Journal of biological chemistry", "date": 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Biochem. Biophys.", "date": "1987", "authors": "Lamhonwah A M, Quan F, Gravel R A", "evidence": [ { "database": "UniProtKB", "id": "P05165", "url": "https://www.uniprot.org/uniprot/P05165" } ], "reference": [ { "type": "PubMed", "id": "3555348", "url": "https://glygen.org/publication/PubMed/3555348" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P05165", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05165" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Isolation and characterization of propionyl-CoA carboxylase from normal human liver. Evidence for a protomeric tetramer of nonidentical subunits.", "journal": "The Journal of biological chemistry", "date": "1980", "authors": "Kalousek F, Darigo MD, Rosenberg LE", "evidence": [ { "database": "UniProtKB", "id": "P05165", "url": "https://www.uniprot.org/uniprot/P05165" }, { "database": "Reactome", "id": "R-HSA-71032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71032" } ], "reference": [ { "type": "PubMed", "id": "6765947", "url": "https://glygen.org/publication/PubMed/6765947" } ] }, { "title": "Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.", "journal": "Clinica chimica acta; international journal of clinical chemistry", "date": "1983", "authors": "Wolf B, Grier RE, Allen RJ, Goodman SI, Kien CL", "evidence": [ { "database": "Reactome", "id": "R-HSA-196780", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196780" } ], "reference": [ { "type": "PubMed", "id": "6883721", "url": 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"id": "P05165", "url": "https://www.uniprot.org/uniprot/P05165" } ], "pmid": "" }, { "name": "ligase activity", "id": "GO:0016874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016874", "evidence": [ { "database": "UniProtKB", "id": "P05165", "url": "https://www.uniprot.org/uniprot/P05165" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P05165", "url": "https://www.uniprot.org/uniprot/P05165" } ], "pmid": "" }, { "name": "biotin binding", "id": "GO:0009374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009374", "evidence": [ { "database": "UniProtKB", "id": "P05165", "url": "https://www.uniprot.org/uniprot/P05165" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P05165", "url": "https://www.uniprot.org/uniprot/P05165" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "P05165", "url": "https://www.uniprot.org/uniprot/P05165" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P05165", "url": "https://www.uniprot.org/uniprot/P05165" } ], "pmid": "" }, { "name": "catalytic complex", "id": "GO:1902494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902494", "evidence": [ { "database": "UniProtKB", "id": "P05165", "url": "https://www.uniprot.org/uniprot/P05165" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 577, "end_pos": 579, "annotation": "n_glycosylation_sequon" }, { "start_pos": 591, "end_pos": 593, "annotation": "n_glycosylation_sequon" }, { "start_pos": 624, "end_pos": 626, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "The biotin cofactor is covalently attached to the C-terminal biotinyl-binding domain and is required for the catalytic activity (PubMed:10329019). Biotinylation is catalyzed by HLCS (PubMed:7753853, PubMed:20443544).", "evidence": [ { "database": "UniProtKB", "id": "P05165", "url": "https://www.uniprot.org/uniprot/P05165" }, { "database": "PubMed", "id": "10329019", "url": "https://glygen.org/publication/PubMed/10329019" }, { "database": "PubMed", "id": "7753853", "url": "https://glygen.org/publication/PubMed/7753853" }, { "database": "PubMed", "id": "20443544", "url": "https://glygen.org/publication/PubMed/20443544" } ] } ], "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" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-29376", "participant_name": "CO2 [mitochondrial matrix]", "crossref": [ { "id": "C00011", "database": "COMPOUND", "url": "" }, { "id": "16526", "database": "ChEBI", "url": "" }, { "id": "HMDB0001967", "database": "HMDB Metabolite", "url": "" }, { "id": "11533283", "database": "PubChem Substance", "url": "" }, { "id": "C00011", "database": "COMPOUND", "url": "" }, { "id": "16526", "database": "ChEBI", "url": "" }, { "id": "HMDB0001967", "database": "HMDB Metabolite", "url": "" }, { "id": "11533283", "database": "PubChem Substance", "url": "" }, { "id": "C00011", "database": "COMPOUND", "url": "" }, { "id": "16526", "database": "ChEBI", "url": "" }, { 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holo-[3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)].", "evidence": [ { "id": "P50747", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50747" } ] } ] }, { "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": "Q99MN9", "gene_name": "Pccb", "activity": [ { "ec_number": "6.4.1.3", "activity": "ATP + hydrogencarbonate + propanoyl-CoA = (S)-methylmalonyl-CoA + ADP + H(+) + phosphate.", "evidence": [ { "id": "Q99MN9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99MN9" } ] }, { "ec_number": "6.4.1.3", "activity": "", "evidence": [ { "id": "Q99MN9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99MN9" } ] } ] }, { "uniprot_ac": "Q9HCC0", "gene_name": "MCCC2", "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": "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" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 655, 659 ], "snv_sites": [ 97, 230, 283, 346, 458, 518, 600, 655, 657, 659, 698 ], "glycation_sites": [], "phosphorylation_sites": [ 252, 632, 634 ], "sequon_annotation_sites": [ { "start_pos": 577, "end_pos": 579 }, { "start_pos": 591, "end_pos": 593 }, { "start_pos": 624, "end_pos": 626 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "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 } ], 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