{ "uniprot_canonical_ac": "P13196-1", "uniprot_ac": "P13196", "uniprot_id": "HEM1_HUMAN", "mass": { "chemical_mass": 70581.0, "monoisotopic_mass": 70581.0 }, "refseq": { "ac": "NP_000679", "name": "5-aminolevulinate synthase, non-specific, mitochondrial isoform 1 precursor", "summary": "This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000679" }, "gene_names": [ { "name": "ALAS1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P13196", "id": "P13196" }, { "name": "ALAS1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000679", "id": "NP_000679" }, { "name": "ALAS3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P13196", "id": "P13196" }, { "name": "ALAS; ALAS-H; ALAS3; ALASH; MIG4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000679", "id": "NP_000679" }, { "name": "ALASH", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P13196", "id": "P13196" }, { "name": "SW-cl.121", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P13196", "id": "P13196" } ], "protein_names": [ { "name": "5-aminolevulinate synthase, non-specific, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P13196" }, { "name": "2.3.1.37", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13196" }, { "name": "5-aminolevulinate synthase, non-specific, mitochondrial isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000679", "id": "NP_000679" }, { "name": "5-aminolevulinate synthase, nonspecific, mitochondrial; migration-inducing protein 4; delta-ALA synthase 1; 5-aminolevulinic acid synthase 1; delta-aminolevulinate synthase 1; aminolevulinate, delta-, synthase 1; 5-aminolevulinate synthase, non-specific, mitochondrial", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000679", "id": "NP_000679" }, { "name": "5-aminolevulinic acid synthase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13196" }, { "name": "ALAS-H", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13196" }, { "name": "Delta-ALA synthase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13196" }, { "name": "Delta-aminolevulinate synthase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13196" } ], "function": [ { "annotation": "5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin.", "evidence": [ { "database": "RefSeq", "id": "NP_000679", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000679" }, { "database": "PubMed", "id": "33199206", "url": "https://glygen.org/publication/PubMed/33199206" } ] }, { "annotation": "Catalyzes the pyridoxal 5'-phosphate (PLP)-dependent condensation of succinyl-CoA and glycine to form aminolevulinic acid (ALA), with CoA and CO2 as by-products.", "evidence": [ { "database": "UniProtKB", "id": "P13196", "url": "https://www.uniprot.org/uniprot/P13196#function" }, { "database": "PubMed", "id": "16234850", "url": "https://glygen.org/publication/PubMed/16234850" }, { "database": "PubMed", "id": "17975826", "url": "https://glygen.org/publication/PubMed/17975826" } ] }, { "annotation": "Heme-dependent recognition of 5-aminolevulinate synthase by the human mitochondrial molecular chaperone ClpX.", "evidence": [ { "database": "RefSeq", "id": "NP_000679", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000679" }, { "database": "PubMed", "id": "34704252", "url": "https://glygen.org/publication/PubMed/34704252" } ] }, { "annotation": "Inhibition of ALAS1 activity exerts anti-tumour effects on colorectal cancer in vitro.", "evidence": [ { "database": "RefSeq", "id": "NP_000679", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000679" }, { "database": "PubMed", "id": "32270771", "url": "https://glygen.org/publication/PubMed/32270771" } ] }, { "annotation": "This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_000679", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000679" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1468341028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1468341028" }, { "id": "rs1468341028", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1468341028#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 213, "end_pos": 213, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DHT->NHT).", "chr_id": "3", "chr_pos": "52204752", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D213", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749744738", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749744738" }, { "id": "rs749744738", "database": "ExAC", "url": 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"http://gnomad.broadinstitute.org/awesome?query=rs766578972" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 317, "end_pos": 317, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DST->NST).", "chr_id": "3", "chr_pos": "52205987", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D317", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201312610", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201312610" }, { "id": "rs201312610", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201312610" }, { "id": "rs201312610", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201312610#frequency_tab" }, { "id": "rs201312610", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201312610" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 340, "end_pos": 340, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NHA->NHS).", "chr_id": "3", "chr_pos": "52206604", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A340", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756204390", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756204390" }, { "id": "rs756204390", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756204390" }, { "id": "rs756204390", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756204390" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 34, "end_pos": 34, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NCP->NCT).", "chr_id": "3", "chr_pos": "52199341", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P34", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs17052017", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs17052017" }, { "id": "rs17052017", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs17052017" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 456, "end_pos": 456, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (STS->NTS).", "chr_id": "3", "chr_pos": "52211319", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S456", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P13196", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P13196" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 80, "end_pos": 80, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DGS->NGS).", "chr_id": "3", "chr_pos": "52202545", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D80", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": 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"MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "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 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"database": "Bgee", "id": "ENSG00000023330", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000023330" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "93.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000023330", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000023330" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "91.77", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000023330", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000023330" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "88.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000023330", "url": 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"description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P13196", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13196" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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"DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", 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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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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P13196", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13196" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast 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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": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P13196", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13196" } ], "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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"database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000679", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000679", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "12921", "url": "https://www.rhea-db.org/rhea/12921", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "H7C4H7", "url": "https://www.uniprot.org/uniprot/H7C4H7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C4H7-1", "url": "https://www.uniprot.org/uniprot/H7C4H7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C5B0", "url": "https://www.uniprot.org/uniprot/H7C5B0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C5B0-1", "url": "https://www.uniprot.org/uniprot/H7C5B0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13196", "url": "https://www.uniprot.org/uniprot/P13196", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13196-1", "url": "https://www.uniprot.org/uniprot/P13196-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13196-2", "url": "https://www.uniprot.org/uniprot/P13196-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": 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"XRVPKYIFRHNDVSHLRELLQRSDPSVPKIVAFETVHSMDGKAFGCVGGYIASTSSLIDTVRSYAAGFIFTTSLPPMLLAGALESVRILKSAEGRVLRRQHQRNVKLMRQMLMDAGLPVVHCPSHIIPVRVADAAKNTEVCDELMSRHNIYVQAINYPTVPRGEELLRIAPTPHHTPQMMNYFLENLLVTWKQVGLELKPHSSAECNFCRRPLHFEVMSEREKSYFSGLSKLVSAQA", "length": 237, "header": "tr|H7C4H7-1|HEM1_HUMAN Computationally mapped isoform of 5-aminolevulinate synthase, non-specific, mitochondrial OS=Homo sapiens OX=9606 GN=ALAS1 PE=1 SV=1 CANONICAL=P13196-1" }, "locus": { "chromosome": "3", "start_pos": 52214178, "end_pos": 52206632, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000493402.1", "url": "https://www.ensembl.org/id/ENST00000493402.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000417352.1", "url": "https://www.ensembl.org/id/ENSP00000417352.1" } ] } }, { "isoform_ac": "H7C5B0-1", "url": "", "sequence": { "sequence": "XRRQHQRNVKLMRQMLMDAGLPVVHCPSHIIPVRVADAAKNTEVCDELMSRHNIYVQAINYPTVPRGEELLRIAPTPHHTPQMMNYFLGEYLGSCWCLTEELHKAVFAVFIIEALQR", "length": 117, "header": "tr|H7C5B0-1|HEM1_HUMAN Computationally mapped isoform of 5-aminolevulinate synthase, non-specific, mitochondrial OS=Homo sapiens OX=9606 GN=ALAS1 PE=1 SV=1 CANONICAL=P13196-1" }, "locus": { "chromosome": "3", "start_pos": 52212507, "end_pos": 52211452, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000459884.1", "url": "https://www.ensembl.org/id/ENST00000459884.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000419423.1", "url": "https://www.ensembl.org/id/ENSP00000419423.1" } ] } }, { "isoform_ac": "P13196-1", "url": "", "sequence": { "sequence": "MESVVRRCPFLSRVPQAFLQKAGKSLLFYAQNCPKMMEVGAKPAPRALSTAAVHYQQIKETPPASEKDKTAKAKVQQTPDGSQQSPDGTQLPSGHPLPATSQGTASKCPFLAAQMNQRGSSVFCKASLELQEDVQEMNAVRKEVAETSAGPSVVSVKTDGGDPSGLLKNFQDIMQKQRPERVSHLLQDNLPKSVSTFQYDRFFEKKIDEKKNDHTYRVFKTVNRRAHIFPMADDYSDSLITKKQVSVWCSNDYLGMSRHPRVCGAVMDTLKQHGAGAGGTRNISGTSKFHVDLERELADLHGKDAALLFSSCFVANDSTLFTLAKMMPGCEIYSDSGNHASMIQGIRNSRVPKYIFRHNDVSHLRELLQRSDPSVPKIVAFETVHSMDGAVCPLEELCDVAHEFGAITFVDEVHAVGLYGARGGGIGDRDGVMPKMDIISGTLGKAFGCVGGYIASTSSLIDTVRSYAAGFIFTTSLPPMLLAGALESVRILKSAEGRVLRRQHQRNVKLMRQMLMDAGLPVVHCPSHIIPVRVADAAKNTEVCDELMSRHNIYVQAINYPTVPRGEELLRIAPTPHHTPQMMNYFLENLLVTWKQVGLELKPHSSAECNFCRRPLHFEVMSEREKSYFSGLSKLVSAQA", "length": 640, "header": "sp|P13196-1|HEM1_HUMAN Isoform 1 of 5-aminolevulinate synthase, non-specific, mitochondrial OS=Homo sapiens OX=9606 GN=ALAS1 PE=1 SV=2 CANONICAL=P13196-1" }, "locus": { "chromosome": "3", "start_pos": 52214177, "end_pos": 52199242, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000394965.6", "url": "https://www.ensembl.org/id/ENST00000394965.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000378416.2", "url": "https://www.ensembl.org/id/ENSP00000378416.2" } ] } }, { "isoform_ac": "P13196-2", "url": "", "sequence": { "sequence": "MESVVRRCPFLSRVPQAFLQKAGKSLLFYAQNCPKMMEVGAKPAPRALSTAAVHYQQIKETPPASEKDKTAKAKVQQTPDGSQQSPDGTQLPSGFRLDTPCLPQARALQANALSWQHR", "length": 118, "header": "sp|P13196-2|HEM1_HUMAN Isoform 2 of 5-aminolevulinate synthase, non-specific, mitochondrial OS=Homo sapiens OX=9606 GN=ALAS1 PE=1 SV=2 CANONICAL=P13196-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 250, "start_aa": "Ser", "end_pos": 250, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser250", "evidence": [ { "id": "P13196", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13196" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "phosphorylation": [ { "start_pos": 269, "end_pos": 269, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P13196", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13196" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ], "site_lbl": "Thr269" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Mechanisms controlling mitochondrial biogenesis and respiration through the thermogenic coactivator PGC-1.", "journal": "Cell", "date": "1999", "authors": "Wu Z, Puigserver P, Andersson U, Zhang C, Adelmant G, Mootha V, Troy A, Cinti S, Lowell B, Scarpulla RC, Spiegelman BM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "10412986", "url": "https://glygen.org/publication/PubMed/10412986" } ] }, { "title": "Cloning and mRNA tissue distribution of human PPARgamma coactivator-1.", "journal": "International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity", "date": "1999", "authors": "Larrouy D, Vidal H, Andreelli F, Laville M, Langin D", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "10643692", "url": "https://glygen.org/publication/PubMed/10643692" } ] }, { "title": "Novel molecular defects of the delta-aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria.", "journal": "Hepatology (Baltimore, Md.)", "date": "2000", "authors": "Akagi R, Shimizu R, Furuyama K, Doss MO, Sassa S", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "10706561", "url": "https://glygen.org/publication/PubMed/10706561" } ] }, { "title": "A tissue-specific coactivator of steroid receptors, identified in a functional genetic screen.", "journal": "Molecular and cellular biology", "date": "2000", "authors": "Knutti D, Kaul A, Kralli A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "10713165", "url": "https://glygen.org/publication/PubMed/10713165" } ] }, { "title": "The murine and human cholesterol 7alpha-hydroxylase gene promoters are differentially responsive to regulation by fatty acids mediated via peroxisome proliferator-activated receptor alpha.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Cheema SK, Agellon LB", "evidence": [ { "database": "Reactome", "id": "R-HSA-1989781", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781" } ], "reference": [ { "type": "PubMed", "id": "10777541", "url": "https://glygen.org/publication/PubMed/10777541" } ] }, { "title": "The molecular mechanism of lead inhibition of human porphobilinogen synthase.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Jaffe EK, Martins J, Li J, Kervinen J, Dunbrack RL Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "11032836", "url": "https://glygen.org/publication/PubMed/11032836" } ] }, { "title": "Mechanistic implications of mutations to the active site lysine of porphobilinogen synthase.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Mitchell LW, Volin M, Martins J, Jaffe EK", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "11032841", "url": "https://glygen.org/publication/PubMed/11032841" } ] }, { "title": "The 2.0 A structure of human ferrochelatase, the terminal enzyme of heme biosynthesis.", "journal": "Nature structural biology", "date": "2001", "authors": "Wu CK, Dailey HA, Rose JP, Burden A, Sellers VM, Wang BC", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "11175906", "url": "https://glygen.org/publication/PubMed/11175906" } ] }, { "title": "Alternative splicing and tissue-specific transcription of human and rodent ubiquitous 5-aminolevulinate synthase (ALAS1) genes.", "journal": "Biochimica et biophysica acta", "date": "2001", "authors": "Roberts AG, Elder GH", "evidence": [ { "database": 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A single enzyme catalyzing the four sequential decarboxylations of uroporphyrinogens I and III.", "journal": "The Journal of biological chemistry", "date": "1983", "authors": "de Verneuil H, Sassa S, Kappas A", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "6822570", "url": "https://glygen.org/publication/PubMed/6822570" } ] }, { "title": "Purification and properties of uroporphyrinogen I synthase from human erythrocytes. 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mediate the species-specific regulation of apolipoprotein A-I expression by fibrates.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Vu-Dac N, Chopin-Delannoy S, Gervois P, Bonnelye E, Martin G, Fruchart JC, Laudet V, Staels B", "evidence": [ { "database": "Reactome", "id": "R-HSA-1989781", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781" } ], "reference": [ { "type": "PubMed", "id": "9748239", "url": "https://glygen.org/publication/PubMed/9748239" } ] }, { "title": "Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain.", "journal": "Genomics", "date": "1998", "authors": "Petruzzella V, Tiranti V, Fernandez P, Ianna P, Carrozzo R, Zeviani M", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", 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biosynthetic process", "id": "GO:0042541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042541", "evidence": [ { "database": "UniProtKB", "id": "P13196", "url": "https://www.uniprot.org/uniprot/P13196" } ], "pmid": "" }, { "name": "response to bile acid", "id": "GO:1903412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903412", "evidence": [ { "database": "UniProtKB", "id": "P13196", "url": "https://www.uniprot.org/uniprot/P13196" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "pyridoxal phosphate binding", "id": "GO:0030170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030170", "evidence": [ { "database": "UniProtKB", "id": "P13196", "url": "https://www.uniprot.org/uniprot/P13196" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P13196", "url": "https://www.uniprot.org/uniprot/P13196" } ], "pmid": "" }, { "name": "5-aminolevulinate synthase activity", "id": "GO:0003870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003870", "evidence": [ { "database": "UniProtKB", "id": "P13196", "url": "https://www.uniprot.org/uniprot/P13196" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P13196", "url": "https://www.uniprot.org/uniprot/P13196" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P13196", "url": "https://www.uniprot.org/uniprot/P13196" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P13196", "url": "https://www.uniprot.org/uniprot/P13196" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "P13196", "url": "https://www.uniprot.org/uniprot/P13196" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P13196", "url": "https://www.uniprot.org/uniprot/P13196" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 282, "end_pos": 284, "annotation": "n_glycosylation_sequon" }, { "start_pos": 316, "end_pos": 318, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "In normoxia, is hydroxylated at Pro-576, promoting interaction with VHL, initiating ubiquitination and subsequent degradation via the proteasome.", "evidence": [ { "database": "UniProtKB", "id": "P13196", "url": "https://www.uniprot.org/uniprot/P13196" }, { "database": "PubMed", "id": "16234850", "url": "https://glygen.org/publication/PubMed/16234850" } ] }, { "annotation": "Ubiquitinated; in normoxia following hydroxylation and interaction with VHL, leading to its subsequent degradation via the proteasome.", "evidence": [ { "database": "UniProtKB", "id": "P13196", "url": "https://www.uniprot.org/uniprot/P13196" }, { "database": "PubMed", "id": "16234850", "url": "https://glygen.org/publication/PubMed/16234850" } ] } ], "interactions": [], "reactions": [ { "id": "12921", "name": "", "equation": "glycine + H(+) + succinyl-CoA = 5-aminolevulinate + CO2 + CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P13195-1", "Q63147-1", "P13196-1", "P22557-1", "Q8VC19-1", "P08680-1", "P09950-1", "Q54UX3-1", "O18680-1" ], "evidence": [ { "id": "12921", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/12921" } ] }, { "id": "R-HSA-1592238", "name": "Expression of ALAS1", "equation": "", "summary": "The ALAS1 gene is transcribed to yield mRNA and the mRNA is translated in the cytosol to yield precursor protein. The ALAS1 precursor is imported into the mitochodrial matrix where it catalyzes the synthesis of 5-aminolevulinate from glycine and succinyl-CoA as part of heme biosynthesis.", "cellular_location": "mitochondrial matrix, nucleoplasm", "input_participant_list": [ "R-HSA-2466373" ], "output_participant_list": [ "R-HSA-189438" ], "enzyme_list": [ "Q15788-1", "Q92793-1", "P13196-1", "Q96RS0-1", "Q86X55-3", "Q3L8U1-1", "Q9BYK8-1" ], "evidence": [ { "id": "R-HSA-1592238", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1592238" } ] }, { "id": "R-HSA-189442", "name": "ALAS condenses SUCC-CoA and Gly to form dALA", "equation": "", "summary": "The committed step for porphyrin synthesis is the formation of 5-aminolevulinate (ALA) by condensation of glycine (from the general amino acid pool) and succinyl-CoA (from the TCA cycle), in the mitochondrial matrix. The reaction is catalyzed by two different ALA synthases, one expressed ubiquitously (ALAS1) and the other only expressed in erythroid precursors (ALAS2). Both enzymes are expressed as homodimers and require pyridoxal 5-phosphate as a cofactor.
No disease-causing mutations of ALAS1 have been recognised in humans. Mutations in ALAS2 cause X-linked sideroblastic anaemia (XLSA), characterised by a microcytic hypochromic anaemia.", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [ "R-ALL-189466" ], "enzyme_list": [ "P22557-1", "P13196-1" ], "evidence": [ { "id": "R-HSA-189442", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189442" } ] }, { "id": "R-HSA-9838035", "name": "CLPXP binds mitochondrial matrix proteins", "equation": "", "summary": "The CLPXP complex is an ATP-dependent protease located in the mitochondrial matrix that binds, unfolds, and degrades a specific set of protein substrates. The CLPXP complex comprises two heptameric rings of CLPP protease subunits and two hexameric rings of CLPX ATPase subunits (Kang et al. 2002, 2005). Upon binding the CLPXP complex, substrate proteins are unfolded by CLPX in an ATP-dependent reaction and translocated to the CLPP protease (reviewed in Baker and Sauer 2012, Liu et al. 2014). The CLPXP complex interacts with more than 200 mitochondrial proteins (Cole et al. 2015, Ishizawa et al. 2019, Mabanglo et al. 2022) and degrades several mitochondrial matrix proteins (Lee et al. 2021, Key et al. 2021), including ERAL1, a putative 12S rRNA chaperone (inferred from mouse homologs in Szczepanowska et al. 2016, Key et al. 2022) and heme-bound ALAS1 (Kubota et al. 2016, Nomura et al. 2021). CLPXP can also regulate proteins involved in bioenergetics such as components of the electron transport chain suggesting that it can regulate proteins in the inner mitochondrial membrane (Seo et al. 2016, Ishizawa et al. 2019, Mabanglo et al. 2022). CLPXP is also thought to be involved in the mitochondrial unfolded protein response (inferred from C. elegans homologs in Haynes et al. 2007 and mouse homologs in Lian et al. 2023).", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75390-1", "Q96I99-1", "P28331-1", "Q02218-1", "P48735-1", "P07954-1", "O75489-1", "P49753-1", "Q99798-1", "P06576-1", "Q9UKU7-1", "P30837-1", "P05091-1", "P78540-1", "Q16740-1", "P22830-1", "Q9NWU1-1", "P55809-1", "P09622-1", "P42126-1", "Q13011-1", "P10809-1", "P13196-1", "Q02338-1", "P08559-1", "P11177-1", "P24752-1", "P40926-1", "P50213-1", "P23368-1", "Q16836-1", "Q15118-1" ], "evidence": [ { "id": "R-HSA-9838035", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9838035" } ] }, { "id": "R-HSA-9838289", "name": "CLPXP degrades mitochondrial matrix proteins", "equation": "", "summary": "The CLPXP complex comprises two heptameric rings of the barrel-shaped CLPP protease and two hexameric rings of the AAA+ CLPX ATPase (Kang et al. 2002, 2005). Though isolated CLPP subunits have peptidase activity, they only have significant protease activity when complexed with CLPX (Kang et al. 2005). The CLPX subunit unfolds proteins so they can enter the axial pore of the CLPP protease (reviewed in Baker and Sauer 2012, Liu et al. 2014). The CLPXP complex binds and degrades several mitochondrial matrix proteins (Lee et al. 2021, Key et al. 2021), including ALAS1 bound to heme (Kubota et al. 2016, Nomura et al. 2021). CLPXP can also regulate proteins involved in bioenergetics such as components of the electron transport chain suggesting that it can regulate proteins in the inner mitochondrial membrane (Seo et al. 2016, Ishizawa et al. 2019, Mabanglo et al. 2022). CLPXP is thought to be involved in the mitochondrial unfolded protein response (inferred from C. elegans homologs in Haynes et al. 2007 and mouse homologs in Lian et al. 2023). Peptides produced by CLPXP are transported from the mitochondria into the cytosol and activate ATF5 (ATFS-1 in C. elegans). ATF5 subsequently translocates to the nucleus where it enhances the expression of mitochondrial proteases (CLPP and LONP1) and chaperones (HSP60 and GRP75) to restore proteostasis (inferred from C. elegans homologs in Haynes et al. 2010, inferred from mouse homologs in Deepa et al. 2016, Fiorese et al. 2016, inferred from rat homologs in Lian et al. 2023). Recessive mutations in the CLPP subunit of the CLPXP complex cause Perreault Syndrome, which is characterized by congenital sensorineural loss, ataxia, azoospermia (male infertility), ovarian failure, psychomotor retardation, ataxia, autism and epilepsy (Jenkinson et al. 2013, Demain et al. 2017, Faridi et al. 2022).", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75390-1", "Q96I99-1", "P28331-1", "Q02218-1", "P48735-1", "P07954-1", "O75489-1", "P49753-1", "Q99798-1", "P06576-1", "Q9UKU7-1", "P30837-1", "P05091-1", "P78540-1", "Q16740-1", "P22830-1", "Q9NWU1-1", "P55809-1", "P09622-1", "P42126-1", "Q13011-1", "P10809-1", "P13196-1", "Q02338-1", "P08559-1", "P11177-1", "P24752-1", "P40926-1", "P50213-1", "P23368-1", "Q16836-1", "Q15118-1" ], "evidence": [ { "id": "R-HSA-9838289", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9838289" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-189466", "participant_name": "dALA [mitochondrial matrix]", "crossref": [ { "id": "356416", "database": "ChEBI", "url": "" }, { "id": "000003782550", "database": "ZINC", "url": "" }, { "id": "000003782550", "database": "ZINC", "url": "" }, { "id": "356416", "database": "ChEBI", "url": "" }, { "id": "356416", "database": "ChEBI", "url": "" }, { "id": "000003782550", "database": "ZINC", "url": "" }, { "id": "356416", "database": "ChEBI", "url": "" }, { "id": "000003782550", "database": "ZINC", "url": "" }, { "id": "356416", "database": "ChEBI", "url": "" }, { "id": "000003782550", "database": "ZINC", "url": "" }, { "id": "356416", "database": "ChEBI", "url": "" }, { "id": "000003782550", "database": "ZINC", "url": "" }, { "id": "356416", "database": "ChEBI", "url": "" }, { "id": "000003782550", "database": "ZINC", "url": "" } ] }, { "participant_id": "R-HSA-189438", "participant_name": "ALAS1 [mitochondrial matrix]", "crossref": [ { "id": "ENSP00000417719", "database": "Ensembl", "url": "" }, { "id": "ENSG00000023330-ALAS1", "database": "HPA", "url": "" }, { "id": "ENST00000484952", "database": "Ensembl", "url": "" }, { "id": "NP_001291373.1", "database": "RefSeq", "url": "" }, { "id": "ENSP00000309259", "database": "Ensembl", "url": "" }, { "id": "P13196", "database": "Pharos - Targets", "url": "" }, { "id": "ENSP00000418779", "database": "Ensembl", "url": "" }, { "id": "27149", "database": "Orphanet", "url": "" }, { "id": "ENST00000310271", "database": "Ensembl", "url": "" }, { "id": "2.3.1.37", "database": "IntEnz", "url": "" }, { "id": "NP_000679.1", "database": "RefSeq", "url": "" }, { "id": "P13196", "database": "UniProt", "url": "" }, { "id": "P13196", "database": "GeneCards", "url": "" }, { "id": "HMDBP00022", "database": "HMDB Protein", "url": "" }, { "id": "ENSG00000023330", "database": "Ensembl", "url": "" }, { "id": "NP_954635.1", "database": "RefSeq", "url": "" }, { "id": "NP_001291372.1", "database": "RefSeq", "url": "" }, { "id": "P13196", "database": "PRO", "url": "" }, { "id": "ENSP00000378416", "database": "Ensembl", "url": "" }, { "id": "ENSG00000023330", "database": "OpenTargets", "url": "" }, { "id": "ENST00000394965", "database": "Ensembl", "url": "" }, { "id": "ENST00000469224", "database": "Ensembl", "url": "" } ] }, { "participant_id": "R-HSA-2466373", "participant_name": "ALAS1 gene [nucleoplasm]", "crossref": [ { "id": "ENSG00000023330", "database": "ENSEMBL", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O18680", "gene_name": "Alas", "activity": [ { "ec_number": "2.3.1.37", "activity": "glycine + H(+) + succinyl-CoA = 5-aminolevulinate + CO2 + CoA.", "evidence": [ { "id": "O18680", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O18680" } ] }, { "ec_number": "2.3.1.37", "activity": "", "evidence": [ { "id": "O18680", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O18680" } ] } ] }, { "uniprot_ac": "O75390", "gene_name": "CS", "activity": [ { "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": "O75489", "gene_name": "NDUFS3", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "O75489", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75489" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "O75489", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75489" } ] } ] }, { "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", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05091" } ] }, { "ec_number": "1.2.1.3", "activity": "", "evidence": [ { "id": "P05091", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05091" } ] } ] }, { "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": "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": "P08559", "gene_name": "PDHA1", "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": "P08559", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08559" } ] }, { "ec_number": "1.2.4.1", "activity": "", "evidence": [ { "id": "P08559", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08559" } ] } ] }, { "uniprot_ac": "P08680", "gene_name": "Alas2", "activity": [ { "ec_number": "2.3.1.37", "activity": "glycine + H(+) + succinyl-CoA = 5-aminolevulinate + CO2 + CoA.", "evidence": [ { "id": "P08680", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08680" } ] }, { "ec_number": "2.3.1.37", "activity": "", "evidence": [ { "id": "P08680", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08680" } ] } ] }, { "uniprot_ac": "P09622", "gene_name": "DLD", "activity": [ { "ec_number": "1.8.1.4", "activity": "N(6)-[(R)-dihydrolipoyl]-L-lysyl-[protein] + NAD(+) = H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[protein] + NADH.", "evidence": [ { "id": "P09622", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09622" } ] }, { "ec_number": "1.8.1.4", "activity": "", "evidence": [ { "id": "P09622", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09622" } ] } ] }, { "uniprot_ac": "P09950", "gene_name": "HEM1", "activity": [ { "ec_number": "2.3.1.37", "activity": "glycine + H(+) + succinyl-CoA = 5-aminolevulinate + CO2 + CoA.", "evidence": [ { "id": "P09950", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09950" } ] }, { "ec_number": "2.3.1.37", "activity": "", "evidence": [ { "id": "P09950", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09950" } ] } ] }, { "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": "P13195", "gene_name": "Alas1", "activity": [ { "ec_number": "2.3.1.37", "activity": "glycine + H(+) + succinyl-CoA = 5-aminolevulinate + CO2 + CoA.", "evidence": [ { "id": "P13195", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13195" } ] }, { "ec_number": "2.3.1.37", "activity": "", "evidence": [ { "id": "P13195", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13195" } ] } ] }, { "uniprot_ac": "P13196", "gene_name": "ALAS1", "activity": [ { "ec_number": "2.3.1.37", "activity": "glycine + H(+) + succinyl-CoA = 5-aminolevulinate + CO2 + CoA.", "evidence": [ { "id": "P13196", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13196" } ] }, { "ec_number": "2.3.1.37", "activity": "", "evidence": [ { "id": "P13196", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13196" } ] } ] }, { "uniprot_ac": "P22557", "gene_name": "ALAS2", "activity": [ { "ec_number": "2.3.1.37", "activity": "glycine + H(+) + succinyl-CoA = 5-aminolevulinate + CO2 + CoA.", "evidence": [ { "id": "P22557", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22557" } ] }, { "ec_number": "2.3.1.37", "activity": "", "evidence": [ { "id": "P22557", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22557" } ] } ] }, { "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", "activity": "2 acetyl-CoA = acetoacetyl-CoA + CoA.", "evidence": [ { "id": "P24752", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24752" } ] }, { "ec_number": "2.3.1.9", "activity": "", "evidence": [ { "id": "P24752", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24752" } ] } ] }, { "uniprot_ac": "P28331", "gene_name": "NDUFS1", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P28331", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28331" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P28331", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28331" } ] } ] }, { "uniprot_ac": "P30837", "gene_name": "ALDH1B1", "activity": [ { "ec_number": "1.2.1.3", "activity": "an aldehyde + H2O + NAD(+) = a carboxylate + 2 H(+) + NADH.", "evidence": [ { "id": "P30837", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30837" } ] }, { "ec_number": "1.2.1.3", "activity": "", "evidence": [ { "id": "P30837", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30837" } ] } ] }, { "uniprot_ac": "P40926", "gene_name": "MDH2", "activity": [ { "ec_number": "1.1.1.37", "activity": "(S)-malate + NAD(+) = H(+) + NADH + oxaloacetate.", "evidence": [ { "id": "P40926", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40926" } ] }, { "ec_number": "1.1.1.37", "activity": "", "evidence": [ { "id": "P40926", "database": "UniProtKB", "url": "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": "P48735", "gene_name": "IDH2", "activity": [ { "ec_number": "1.1.1.42", "activity": "D-threo-isocitrate + NADP(+) = 2-oxoglutarate + CO2 + NADPH.", "evidence": [ { "id": "P48735", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P48735" } ] }, { "ec_number": "1.1.1.42", "activity": "", "evidence": [ { "id": "P48735", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P48735" } ] } ] }, { "uniprot_ac": "P49753", "gene_name": "ACOT2", "activity": [ { "ec_number": "3.1.2.2", "activity": "H2O + hexadecanoyl-CoA = CoA + H(+) + hexadecanoate.", "evidence": [ { "id": "P49753", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49753" } ] }, { "ec_number": "3.1.2.2", "activity": "", "evidence": [ { "id": "P49753", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49753" } ] } ] }, { "uniprot_ac": "P50213", "gene_name": "IDH3A", "activity": [ { "ec_number": "1.1.1.41", "activity": "D-threo-isocitrate + NAD(+) = 2-oxoglutarate + CO2 + NADH.", "evidence": [ { "id": "P50213", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50213" } ] }, { "ec_number": "1.1.1.41", "activity": "", "evidence": [ { "id": "P50213", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50213" } ] } ] }, { "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": "Q02338", "gene_name": "BDH1", "activity": [ { "ec_number": "1.1.1.30", "activity": "(R)-3-hydroxybutanoate + NAD(+) = acetoacetate + H(+) + NADH.", "evidence": [ { "id": "Q02338", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q02338" } ] }, { "ec_number": "1.1.1.30", "activity": "", "evidence": [ { "id": "Q02338", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q02338" } ] } ] }, { "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": "Q15788", "gene_name": "NCOA1", "activity": [ { "ec_number": "2.3.1.48", "activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].", "evidence": [ { "id": "Q15788", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15788" } ] }, { "ec_number": "2.3.1.48", "activity": "", "evidence": [ { "id": "Q15788", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15788" } ] } ] }, { "uniprot_ac": "Q16740", "gene_name": "CLPP", "activity": [ { "ec_number": "3.4.21.92", "activity": "Hydrolysis of proteins to small peptides in the presence of ATP and magnesium. alpha-casein is the usual test substrate. In the absence of ATP, only oligopeptides shorter than five residues are hydrolyzed (such as succinyl-Leu-Tyr-|-NHMec, and Leu-Tyr-Leu-|-Tyr-Trp, in which cleavage of the -Tyr-|-Leu- and -Tyr-|-Trp bonds also occurs).", "evidence": [ { "id": "Q16740", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16740" } ] }, { "ec_number": "3.4.21.92", "activity": "", "evidence": [ { "id": "Q16740", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16740" } ] } ] }, { "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": "Q3L8U1", "gene_name": "CHD9", "activity": [ { "ec_number": "3.6.4.12", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "Q3L8U1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3L8U1" } ] }, { "ec_number": "3.6.4.12", "activity": "", "evidence": [ { "id": "Q3L8U1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3L8U1" } ] } ] }, { "uniprot_ac": "Q54UX3", "gene_name": "hemA", "activity": [ { "ec_number": "2.3.1.37", "activity": "glycine + H(+) + succinyl-CoA = 5-aminolevulinate + CO2 + CoA.", "evidence": [ { "id": "Q54UX3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54UX3" } ] }, { "ec_number": "2.3.1.37", "activity": "", "evidence": [ { "id": "Q54UX3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54UX3" } ] } ] }, { "uniprot_ac": "Q63147", "gene_name": "Alas2", "activity": [ { "ec_number": "2.3.1.37", "activity": "glycine + H(+) + succinyl-CoA = 5-aminolevulinate + CO2 + CoA.", "evidence": [ { "id": "Q63147", "database": 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"https://www.uniprot.org/uniprot/Q8VC19" } ] }, { "ec_number": "2.3.1.37", "activity": "", "evidence": [ { "id": "Q8VC19", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VC19" } ] } ] }, { "uniprot_ac": "Q92793", "gene_name": "CREBBP", "activity": [ { "ec_number": "2.3.1.48", "activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].", "evidence": [ { "id": "Q92793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92793" } ] }, { "ec_number": "2.3.1.48", "activity": "", "evidence": [ { "id": "Q92793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92793" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "Q92793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92793" } ] } ] }, { "uniprot_ac": "Q96I99", "gene_name": "SUCLG2", "activity": [ { "ec_number": "6.2.1.4", "activity": "CoA + GTP + succinate = GDP + phosphate + succinyl-CoA.", "evidence": [ { "id": "Q96I99", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96I99" } ] }, { "ec_number": "6.2.1.4", "activity": "", "evidence": [ { "id": "Q96I99", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96I99" } ] } ] }, { "uniprot_ac": "Q96RS0", "gene_name": "TGS1", "activity": [ { "ec_number": "2.1.1.-", "activity": "", "evidence": [ { "id": "Q96RS0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96RS0" } ] } ] }, { "uniprot_ac": "Q99798", "gene_name": "ACO2", "activity": [ { "ec_number": "4.2.1.3", "activity": "citrate = D-threo-isocitrate.", "evidence": [ { "id": "Q99798", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99798" } ] }, { "ec_number": "4.2.1.3", "activity": "", "evidence": [ { "id": "Q99798", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99798" } ] } ] }, { "uniprot_ac": "Q9BYK8", "gene_name": "HELZ2", "activity": [ { "ec_number": "3.1.13.1", "activity": "Exonucleolytic cleavage in 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316, "end_pos": 318 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": 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