{ "uniprot_canonical_ac": "P13804-1", "uniprot_ac": "P13804", "uniprot_id": "ETFA_HUMAN", "mass": { "chemical_mass": 35080.0, "monoisotopic_mass": 35080.0 }, "refseq": { "ac": "NP_000117", "name": "electron transfer flavoprotein subunit alpha, mitochondrial isoform a", "summary": "ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000117" }, "gene_names": [ { "name": "ETFA", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P13804", "id": "P13804" }, { "name": "EMA; GA2; MADD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000117", "id": "NP_000117" }, { "name": "ETFA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000117", "id": "NP_000117" } ], "protein_names": [ { "name": "Electron transfer flavoprotein subunit alpha, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P13804" }, { "name": "Alpha-ETF", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13804" }, { "name": "electron transfer flavoprotein subunit alpha, mitochondrial isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000117", "id": "NP_000117" }, { "name": "glutaric aciduria II; electron transfer flavoprotein subunit alpha, mitochondrial; electron transfer flavoprotein, alpha polypeptide; electron transfer flavoprotein alpha subunit; alpha-ETF; epididymis secretory sperm binding protein; multiple acyl-CoA dehydrogenase deficiency", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000117", "id": "NP_000117" } ], "function": [ { "annotation": "A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000117", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000117" }, { "database": "PubMed", "id": "31996215", "url": "https://glygen.org/publication/PubMed/31996215" } ] }, { "annotation": "ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000117", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000117" } ] }, { "annotation": "Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase (PubMed:27499296, PubMed:15159392, PubMed:15975918, PubMed:9334218, PubMed:10356313). It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase) (PubMed:9334218). Required for normal mitochondrial fatty acid oxidation and normal amino acid metabolism (PubMed:12815589, PubMed:1882842, PubMed:1430199).", "evidence": [ { "database": "UniProtKB", "id": "P13804", "url": "https://www.uniprot.org/uniprot/P13804#function" }, { "database": "PubMed", "id": "10356313", "url": "https://glygen.org/publication/PubMed/10356313" }, { "database": "PubMed", "id": "1882842", "url": "https://glygen.org/publication/PubMed/1882842" }, { "database": "PubMed", "id": "27499296", "url": "https://glygen.org/publication/PubMed/27499296" }, { "database": "PubMed", "id": "12815589", "url": "https://glygen.org/publication/PubMed/12815589" }, { "database": "PubMed", "id": "17941859", "url": "https://glygen.org/publication/PubMed/17941859" }, { "database": "PubMed", "id": "15159392", "url": "https://glygen.org/publication/PubMed/15159392" }, { "database": "PubMed", "id": "1430199", "url": "https://glygen.org/publication/PubMed/1430199" }, { "database": "PubMed", "id": "9334218", "url": "https://glygen.org/publication/PubMed/9334218" }, { "database": "PubMed", "id": "15975918", "url": "https://glygen.org/publication/PubMed/15975918" } ] }, { "annotation": "NBPF4 mitigates progression in colorectal cancer through the regulation of EZH2-associated ETFA.", "evidence": [ { "database": "RefSeq", "id": "NP_000117", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000117" }, { "database": "PubMed", "id": "34405537", "url": "https://glygen.org/publication/PubMed/34405537" } ] }, { "annotation": "Screening of multiple acyl-CoA dehydrogenase deficiency in newborns and follow-up of patients.", "evidence": [ { "database": "RefSeq", "id": "NP_000117", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000117" }, { "database": "PubMed", "id": "34704421", "url": "https://glygen.org/publication/PubMed/34704421" } ] }, { "annotation": "The electron transfer flavoprotein serves as a specific electron acceptor for several dehydrogenases, including five acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase. It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase).", "evidence": [ { "database": "UniProtKB", "id": "H0YLU7", "url": "https://www.uniprot.org/uniprot/H0YLU7#function" }, { "database": "UniProtKB", "id": "PIRNR000089", "url": "https://www.uniprot.org/uniprot/PIRNR000089#function" }, { "database": "UniProtKB", "id": "A0A8I5KYH4", "url": "https://www.uniprot.org/uniprot/A0A8I5KYH4#function" }, { "database": "UniProtKB", "id": "A0A8I5KUF3", "url": "https://www.uniprot.org/uniprot/A0A8I5KUF3#function" }, { "database": "UniProtKB", "id": "A0A8I5KVC9", "url": "https://www.uniprot.org/uniprot/A0A8I5KVC9#function" }, { "database": "UniProtKB", "id": "H0YK49", "url": "https://www.uniprot.org/uniprot/H0YK49#function" }, { "database": "UniProtKB", "id": "A0A8I5KT03", "url": "https://www.uniprot.org/uniprot/A0A8I5KT03#function" }, { "database": "UniProtKB", "id": "A0A8I5KUR2", "url": "https://www.uniprot.org/uniprot/A0A8I5KUR2#function" }, { "database": "UniProtKB", "id": "H3BV91", "url": "https://www.uniprot.org/uniprot/H3BV91#function" }, { "database": "UniProtKB", "id": "A0A8I5KVL5", "url": "https://www.uniprot.org/uniprot/A0A8I5KVL5#function" }, { "database": "UniProtKB", "id": "A0A8I5KYP7", "url": "https://www.uniprot.org/uniprot/A0A8I5KYP7#function" }, { "database": "UniProtKB", "id": "H0YKF0", "url": "https://www.uniprot.org/uniprot/H0YKF0#function" } ] } ], "disease": [ { "disease_id": "DOID:0060358", "recommended_name": { "id": "DOID:0060358", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060358", "name": "multiple acyl-CoA dehydrogenase deficiency", "description": "An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal." }, "synonyms": [ { "id": "DOID:0060358", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060358", "name": "electron transfer flavoprotein ubiquinone oxidoreductase deficiency", "description": "" }, { "id": "DOID:0060358", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060358", "name": "MAD deficiency", "description": "" }, { "id": "DOID:0060358", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060358", "name": "MADD", "description": "" }, { "id": "DOID:0060358", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060358", "name": "electron transfer flavoprotein deficiency", "description": "" }, { "id": "DOID:0060358", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060358", "name": "glutaric acidemia type 2", "description": "" }, { "id": "DOID:0060358", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060358", "name": "glutaric aciduria type 2", "description": "" }, { "id": "MONDO:0009282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009282", "name": "multiple acyl-CoA dehydrogenase deficiency", "description": "A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." }, { "id": "MONDO:0009282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009282", "name": "MAD deficiency", "description": "" }, { "id": "MONDO:0009282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009282", "name": "MADD", "description": "" }, { "id": "MONDO:0009282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009282", "name": "electron transfer flavoprotein deficiency", "description": "" }, { "id": "MONDO:0009282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009282", "name": "electron transfer flavoprotein ubiquinone oxidoreductase deficiency", "description": "" }, { "id": "MONDO:0009282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009282", "name": "glutaric acidemia type 2", "description": "" }, { "id": "MONDO:0009282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009282", "name": "glutaric acidemia type II", "description": "" }, { "id": "MONDO:0009282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009282", "name": "glutaric aciduria type 2", "description": "" }, { "id": "MONDO:0009282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009282", "name": "glutaric aciduria, type 2", "description": "" }, { "id": "MONDO:0009282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009282", "name": "multiple acyl Coenzyme A dehydrogenase deficiency", "description": "" }, { "id": "MONDO:0009282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009282", "name": "multiple acyl-CoA dehydrogenase deficiency", "description": "" }, { "id": "MONDO:0009282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009282", "name": "Etfa deficiency", "description": "" }, { "id": "MONDO:0009282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009282", "name": "Etfb deficiency", "description": "" }, { "id": "MONDO:0009282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009282", "name": "Etfdh deficiency", "description": "" }, { "id": "MONDO:0009282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009282", "name": "glutaric acidemia 2A", "description": "" }, { "id": "MONDO:0009282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009282", "name": "glutaric acidemia 2B", "description": "" }, { "id": "MONDO:0009282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009282", "name": "glutaric acidemia 2C", "description": "" }, { "id": "MONDO:0009282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009282", "name": "glutaric acidemia IIA", "description": "" }, { "id": "MONDO:0009282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009282", "name": "glutaric acidemia IIB", "description": "" }, { "id": "MONDO:0009282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009282", "name": "glutaric acidemia IIC", "description": "" }, { "id": "MONDO:0009282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009282", "name": "EMA", "description": "" }, { "id": "MONDO:0009282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009282", "name": "Ga 2", "description": "" }, { "id": "MONDO:0009282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009282", "name": "ethylmalonic-Adipicaciduria", "description": "" }, { "id": "MONDO:0009282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009282", "name": "glutaric acidemia 2", "description": "" }, { "id": "MONDO:0009282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009282", "name": "glutaric aciduria 2", "description": "" }, { "id": "MIM:231680", "resource": "MIM", "url": "https://www.omim.org/entry/231680", "name": "Glutaric aciduria 2C", "description": "Glutaric aciduria 2C" } ], "evidence": [ { "id": "231680", "database": "MIM", "url": "https://www.omim.org/entry/231680" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 249, "end_pos": 249, "sequence_org": "R", "sequence_mut": "A", "comment": "Loss of electron transfer activity.", "evidence": [ { "database": "UniProtKB", "id": "P13804", "url": "https://www.uniprot.org/uniprot/P13804" }, { "database": "PubMed", "id": "15975918", "url": "https://glygen.org/publication/PubMed/15975918" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "97.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140374", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140374" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "96.15", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140374", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140374" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "96.66", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140374", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140374" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "92.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140374", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140374" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "98.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140374", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140374" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140374", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140374" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "96.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140374", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140374" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "97.16", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140374", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140374" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "95.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140374", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140374" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "89.92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140374", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140374" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "98.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140374", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140374" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "96.9", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140374", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140374" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "98.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140374", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140374" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P13804", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13804" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "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": "P13804", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13804" } ], "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": 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"Protein" ] }, { "id": "H0YLU7", "url": "https://www.uniprot.org/uniprot/H0YLU7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YLU7-1", "url": "https://www.uniprot.org/uniprot/H0YLU7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YM12", "url": "https://www.uniprot.org/uniprot/H0YM12", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YM12-1", "url": "https://www.uniprot.org/uniprot/H0YM12-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YMU8", "url": "https://www.uniprot.org/uniprot/H0YMU8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YMU8-1", "url": "https://www.uniprot.org/uniprot/H0YMU8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BV91", "url": "https://www.uniprot.org/uniprot/H3BV91", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BV91-1", "url": "https://www.uniprot.org/uniprot/H3BV91-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KN60", "url": "https://www.uniprot.org/uniprot/J3KN60", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KN60-1", "url": "https://www.uniprot.org/uniprot/J3KN60-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13804", "url": "https://www.uniprot.org/uniprot/P13804", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13804-1", "url": "https://www.uniprot.org/uniprot/P13804-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13804-2", "url": "https://www.uniprot.org/uniprot/P13804-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MFRAAAPGQLRRAASLLRFQSTLVIAEHANDSLAPITLNTITAATRLGGEVSCLVAGTKCDKVAQDLCKVAGIAKVLVAQHDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLLPRVAAKLEVAPISDIIAIKSPDTFVRTIYAGNALCTVKCDEKVKVFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDRPELTGAKVVVSGGRGLKSGENFKLLYDLADQLHAAVGASRAAVDAGFVPNDMQVGQTGKIVAPELYIAVGISGAIQHLAGMKDSKTIVAINKDPEAPIFQVADYGIVADLFKVVPEMTEILKKK", "length": 333, "header": "sp|P13804-1|ETFA_HUMAN Isoform 1 of Electron transfer flavoprotein subunit alpha, mitochondrial OS=Homo sapiens OX=9606 GN=ETFA PE=1 SV=1 CANONICAL=P13804-1" }, "isoforms": [ { "isoform_ac": "A0A0S2Z3M4-1", "url": "", "sequence": { "sequence": "MFRAAAPGQLRRAASLLRFQSTLVIAEHANDSLAPITLNTITAATRLGGEVSCLVAGTKCDKVAQDLCKVAGIAKVLVAQHDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLLPRVAAKLEVAPISDIIAIKSPDTFVRTIYAGNALCTVKCDEKVKVFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDRPELTGAKVVVSGVGASRAAVDAGFVPNDMQVGQTGKIVAPELYIAVGISGAIQHLAGMKDSKTIVAINKDPEAPIFQVADYGIVADLFKVVPEMTEILKKK", "length": 310, "header": "tr|A0A0S2Z3M4-1|A0A0S2Z3M4_HUMAN Computationally mapped isoform of Electron transfer flavoprotein subunit alpha, mitochondrial OS=Homo sapiens OX=9606 GN=ETFA PE=1 SV=1 CANONICAL=P13804-1" }, "locus": { "chromosome": "15", "start_pos": 76311388, "end_pos": 76216562, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000688389.1", "url": "https://www.ensembl.org/id/ENST00000688389.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510491.1", "url": "https://www.ensembl.org/id/ENSP00000510491.1" } ] } }, { "isoform_ac": "A0A8I5KSA0-1", "url": "", "sequence": { "sequence": "MFRAAAPGQLRRATGFPHVTQAGLELLSSSDPPASASQSPGITGLSYRTWP", "length": 51, "header": "tr|A0A8I5KSA0-1|A0A8I5KSA0_HUMAN Computationally mapped isoform of Electron transfer flavoprotein subunit alpha OS=Homo sapiens OX=9606 GN=ETFA PE=4 SV=1 CANONICAL=P13804-1" }, "locus": { "chromosome": "15", "start_pos": 76311388, "end_pos": 76309949, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000693064.1", "url": "https://www.ensembl.org/id/ENST00000693064.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510720.1", "url": "https://www.ensembl.org/id/ENSP00000510720.1" } ] } }, { "isoform_ac": "A0A8I5KT03-1", "url": "", "sequence": { "sequence": "MFRAAAPGQLRRAVAQDLCKVAGIAKVLVAQHDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLLPRVAAKLEVAPISDIIAIKSPDTFVRTIYAVKCDEKVKVFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDRPELTGAKVVVSGGRGLKSGENFKLLYDLADQLHAAVGASRAAVDAGFVPNDMQVGQTGKIVAPELYIAVGISGAIQHLAGMKDSKTIVAINKDPEAPIFQVADYGIVADLFKVVPEMTEILKKK", "length": 278, "header": "tr|A0A8I5KT03-1|A0A8I5KT03_HUMAN Computationally mapped isoform of Electron transfer flavoprotein subunit alpha OS=Homo sapiens OX=9606 GN=ETFA PE=1 SV=1 CANONICAL=P13804-1" }, "locus": { "chromosome": "15", "start_pos": 76311388, "end_pos": 76216562, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000688908.1", "url": "https://www.ensembl.org/id/ENST00000688908.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510242.1", "url": "https://www.ensembl.org/id/ENSP00000510242.1" } ] } }, { "isoform_ac": "A0A8I5KU27-1", "url": "", "sequence": { "sequence": "MFRAAAPGQLRRAASLLRFQSTLVIAEHANDSLAPITLNTITAATRLGGEVSCLVAGTKCDKMEFHSFAQSGVKWCDLGSL", "length": 81, "header": "tr|A0A8I5KU27-1|ETFA_HUMAN Computationally mapped isoform of Electron transfer flavoprotein subunit alpha, mitochondrial OS=Homo sapiens OX=9606 GN=ETFA PE=1 SV=1 CANONICAL=P13804-1" }, "locus": { "chromosome": "15", "start_pos": 76311388, "end_pos": 76293077, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000687975.1", "url": "https://www.ensembl.org/id/ENST00000687975.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508690.1", "url": "https://www.ensembl.org/id/ENSP00000508690.1" } ] } }, { "isoform_ac": "A0A8I5KUF3-1", "url": "", "sequence": { "sequence": "MFRAAAPGQLRRAASLLRFQSTLVIAEHANDSLAPITLNTITAATRLGGEVSCLVAGTKCDKVAQDLCKVAGIAKVLVAQHDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLLPRVAAKLEVAPISDIIAIKSPDTFVRTIYAGNALCTVKCDEKVKVFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDRPELTGAKVVVSGGRGLKSGENFKLLYDLADQLHAAVGASRAAVDAGFVPNDMQVGQTGKIVAPELYIAVGISGAIQHLAGMKDSKRWGLPVLRRLVLNAWAEVILPLPPPKVLGL", "length": 324, "header": "tr|A0A8I5KUF3-1|ETFA_HUMAN Computationally mapped isoform of Electron transfer flavoprotein subunit alpha, mitochondrial OS=Homo sapiens OX=9606 GN=ETFA PE=1 SV=1 CANONICAL=P13804-1" }, "locus": { "chromosome": "15", "start_pos": 76311388, "end_pos": 76227141, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000685548.1", "url": "https://www.ensembl.org/id/ENST00000685548.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510343.1", "url": "https://www.ensembl.org/id/ENSP00000510343.1" } ] } }, { "isoform_ac": "A0A8I5KUR2-1", "url": "", "sequence": { "sequence": "MFRAAAPGQLRRAVAQDLCKVAGIAKVLVAQHDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLLPRVAAKLEVAPISDIIAIKSPDTFVRTIYAGNALCTVKCDEKVKVFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDRPELTGAKVVVSGVGASRAAVDAGFVPNDMQVGQTGKIVAPELYIAVGISGAIQHLAGMKDSKTIVAINKDPEAPIFQVADYGIVADLFKVVPEMTEILKKK", "length": 261, "header": "tr|A0A8I5KUR2-1|A0A8I5KUR2_HUMAN Computationally mapped isoform of Electron transfer flavoprotein subunit alpha OS=Homo sapiens OX=9606 GN=ETFA PE=1 SV=1 CANONICAL=P13804-1" }, "locus": { "chromosome": "15", "start_pos": 76311388, "end_pos": 76216562, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000685863.1", "url": "https://www.ensembl.org/id/ENST00000685863.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509361.1", "url": "https://www.ensembl.org/id/ENSP00000509361.1" } ] } }, { "isoform_ac": "A0A8I5KVC9-1", "url": "", "sequence": { "sequence": "MFRAAAPGQLRRAVAQDLCKVAGIAKVLVAQHDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLLPRVAAKLEVAPISDIIAIKSPDTFVRTIYAGNALCTVKCDEKVKVFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDRPELTGAKVVVSGGRGLKSGENFKLLYDLADQLHAAVGASRAAVDAGFVPNDMQVGQTGKIVAPMESHSTAQAGVQWCHLGFKQFSCLSLPSS", "length": 252, "header": "tr|A0A8I5KVC9-1|A0A8I5KVC9_HUMAN Computationally mapped isoform of Electron transfer flavoprotein subunit alpha OS=Homo sapiens OX=9606 GN=ETFA PE=1 SV=1 CANONICAL=P13804-1" }, "locus": { "chromosome": "15", "start_pos": 76311388, "end_pos": 76243181, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000691695.1", "url": "https://www.ensembl.org/id/ENST00000691695.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509402.1", "url": "https://www.ensembl.org/id/ENSP00000509402.1" } ] } }, { "isoform_ac": "A0A8I5KVL5-1", "url": "", "sequence": { "sequence": "MFRAAAPGQLRRAASLLRFQSTLVIAEHANDSLAPITLNTITAATRLGGEVSCLVAGTKCDKVAQDLCKVAGIAKVLVAQHDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLLPRVAAKLEVAPISDIIAIKSPDTFVRTIYAGNALCTVKCDEKVKVFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDRPELTGAKVVVSGDGVSLLLPRLECNGTISAHRHLHLPGSSDSPASASRVAGITGRGLKSGENFKLLYDLADQLHAAVGASRAAVDAGFVPNDMQVGQTGKIVAPELYIAVGISGAIQHLAGMKDSKTIVAINKDPEAPIFQVADYGIVADLFKVVPEMTEILKKK", "length": 374, "header": "tr|A0A8I5KVL5-1|A0A8I5KVL5_HUMAN Computationally mapped isoform of Electron transfer flavoprotein subunit alpha OS=Homo sapiens OX=9606 GN=ETFA PE=1 SV=1 CANONICAL=P13804-1" }, "locus": { "chromosome": "15", "start_pos": 76311388, "end_pos": 76216562, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000692691.1", "url": "https://www.ensembl.org/id/ENST00000692691.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508808.1", "url": "https://www.ensembl.org/id/ENSP00000508808.1" } ] } }, { "isoform_ac": "A0A8I5KYH4-1", "url": "", "sequence": { "sequence": "MFRAAAPGQLRRAASLLRFQSTLVIAEHANDSLAPITLNTITAATRLGGEVSCLVAGTKCDKVAQDLCKVAGIAKVLVAQHDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLLPRVAAKLEVAPISDIIAIKSPDTFVRTIYAGNALCTVKCDEKVKVFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDRPELTGAKVVVSGDGVSLLLPRLECNGTISAHRHLHLPGRGLKSGENFKLLYDLADQLHAAVGASRAAVDAGFVPNDMQVGQTGKIVAPELYIAVGISGAIQHLAGMKDSKTIVAINKDPEAPIFQVADYGIVADLFKVVPEMTEILKKK", "length": 358, "header": "tr|A0A8I5KYH4-1|ETFA_HUMAN Computationally mapped isoform of Electron transfer flavoprotein subunit alpha, mitochondrial OS=Homo sapiens OX=9606 GN=ETFA PE=1 SV=1 CANONICAL=P13804-1" }, "locus": { "chromosome": "15", "start_pos": 76311388, "end_pos": 76216562, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000687293.1", "url": "https://www.ensembl.org/id/ENST00000687293.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509928.1", "url": "https://www.ensembl.org/id/ENSP00000509928.1" } ] } }, { "isoform_ac": "A0A8I5KYP7-1", "url": "", "sequence": { "sequence": "MFRAAAPGQLRRAASLLRFQSTLVIAEHANDSLAPITLNTITAATRLGGEVSCLVAGTKCDKVAQDLCKVAGIAKVLVAQHDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLLPRVAAKLEVAPISDIIAIKSPDTFVRTIYAVKCDEKVKVFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDRPELTGAKVVVSGGRGLKSGENFKLLYDLADQLHAAVGASRAAVDAGFVPNDMQVGQTGKIVAPELYIAVGISGAIQHLAGMKDSKTIVAINKDPEAPIFQVADYGIVADLFKVVPEMTEILKKK", "length": 327, "header": "tr|A0A8I5KYP7-1|ETFA_HUMAN Computationally mapped isoform of Electron transfer flavoprotein subunit alpha, mitochondrial OS=Homo sapiens OX=9606 GN=ETFA PE=1 SV=1 CANONICAL=P13804-1" }, "locus": { "chromosome": "15", "start_pos": 76311388, "end_pos": 76216562, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000689730.1", "url": "https://www.ensembl.org/id/ENST00000689730.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510006.1", "url": "https://www.ensembl.org/id/ENSP00000510006.1" } ] } }, { "isoform_ac": "H0YK49-1", "url": "", "sequence": { "sequence": "MFRAAAPGQLRRANLLPRVAAKLEVAPISDIIAIKSPDTFVRTIYAGNALCTVKCDEKVKVFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDRPELTGAKVVVSGGRGLKSGENFKLLYDLADQLHAAVGASRAAVDAGFVPNDMQVGQTGKIVAPELYIAVGISGAIQHLAGMKDSKTIVAINKDPEAPIFQVADYGIVADLFKVVPEMTEILKKK", "length": 229, "header": "tr|H0YK49-1|H0YK49_HUMAN Computationally mapped isoform of Electron transfer flavoprotein subunit alpha OS=Homo sapiens OX=9606 GN=ETFA PE=1 SV=1 CANONICAL=P13804-1" }, "locus": { "chromosome": "15", "start_pos": 76311388, "end_pos": 76216562, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000559602.5", "url": "https://www.ensembl.org/id/ENST00000559602.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000452659.1", "url": "https://www.ensembl.org/id/ENSP00000452659.1" } ] } }, { "isoform_ac": "H0YKF0-1", "url": "", "sequence": { "sequence": "MFRAAAPGQLRRAASLLRFQSTLVIAEHANDSLAPITLNTITAATRLGGEVSCLVAGTKCDKVAQDLCKVAGIAKVLVAQHDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLLPRVAAKLEVAPISDIIAIKSPDTFVRTIYAGNALCTVKCDEKVKVFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDRPELTGAKVVVSGGRGLKSGENFKLLYDLADQLHAAVGASRAAVDAGFVPNDMQVGQTGKIVAPMESHSTAQAGVQWCHLGFKQFSCLSLPSS", "length": 301, "header": "tr|H0YKF0-1|H0YKF0_HUMAN Computationally mapped isoform of Electron transfer flavoprotein subunit alpha OS=Homo sapiens OX=9606 GN=ETFA PE=1 SV=2 CANONICAL=P13804-1" }, "locus": { "chromosome": "15", "start_pos": 76311388, "end_pos": 76243181, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000559386.2", "url": "https://www.ensembl.org/id/ENST00000559386.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000452777.2", "url": "https://www.ensembl.org/id/ENSP00000452777.2" } ] } }, { "isoform_ac": "H0YL83-1", "url": "", "sequence": { "sequence": "MQVGQTGKIVAPELYIAVGISGAIQHLAGMKDSKTIVAINKDPEAPIFQVADYGIVADLFKVVPEMTEILKKK", "length": 73, "header": "tr|H0YL83-1|H0YL83_HUMAN Computationally mapped isoform of Electron transfer flavoprotein subunit alpha OS=Homo sapiens OX=9606 GN=ETFA PE=1 SV=1 CANONICAL=P13804-1" }, "locus": { "chromosome": "15", "start_pos": 76274447, "end_pos": 76216562, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000560726.5", "url": "https://www.ensembl.org/id/ENST00000560726.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000453098.1", "url": "https://www.ensembl.org/id/ENSP00000453098.1" } ] } }, { "isoform_ac": "H0YLU7-1", "url": "", "sequence": { "sequence": "MFRAAAPGQLRRAASLLRFQSTLVIAEHANDSLAPITLNTITAATRLGGEVSCLVAGTKCDKVAQDLCKVAGIAKVLVAQHDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLLPRVAAKLEVAPISDIIAIKSPDTFVRTIYAGNALCTVKCDEKVKVFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDRPELTGAKVVVSGDGVSLLLPRLECNGTISAHRHLHLPGSSDSPASASRVAGITVETEVLHVGQAGLEILTSGDPPTSASQSVGITGRGLKSGENFKLLYDLADQLHAAVGASRAAVDAGFVPNDMQVGQTGKIVAPELYIAVGISGAIQHLAGMKDSKTIVAINKDPEAPIFQVADYGIVADLFKVVPEMTEILKKK", "length": 406, "header": "tr|H0YLU7-1|ETFA_HUMAN Computationally mapped isoform of Electron transfer flavoprotein subunit alpha, mitochondrial OS=Homo sapiens OX=9606 GN=ETFA PE=1 SV=2 CANONICAL=P13804-1" }, "locus": { "chromosome": "15", "start_pos": 76311388, "end_pos": 76216562, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000560595.6", "url": "https://www.ensembl.org/id/ENST00000560595.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000453345.2", "url": "https://www.ensembl.org/id/ENSP00000453345.2" } ] } }, { "isoform_ac": "H0YM12-1", "url": "", "sequence": { "sequence": "MQVGQTGKIVAPELYIAVGISGAIQHLAGMKDSKHVSLD", "length": 39, "header": "tr|H0YM12-1|H0YM12_HUMAN Computationally mapped isoform of Electron transfer flavoprotein subunit alpha OS=Homo sapiens OX=9606 GN=ETFA PE=1 SV=1 CANONICAL=P13804-1" }, "locus": { "chromosome": "15", "start_pos": 76274447, "end_pos": 76227904, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000560899.5", "url": "https://www.ensembl.org/id/ENST00000560899.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000453422.1", "url": "https://www.ensembl.org/id/ENSP00000453422.1" } ] } }, { "isoform_ac": "H0YMU8-1", "url": "", "sequence": { "sequence": "MFRAAAPGQLRRARRGFPMLPRLVSNSCPQVIHLPRPPKVLELQA", "length": 45, "header": "tr|H0YMU8-1|H0YMU8_HUMAN Computationally mapped isoform of Electron-transfer-flavoprotein alpha polypeptide isoform 2 OS=Homo sapiens OX=9606 GN=ETFA PE=2 SV=1 CANONICAL=P13804-1" }, "locus": { "chromosome": "15", "start_pos": 76311388, "end_pos": 76309969, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000560309.5", "url": "https://www.ensembl.org/id/ENST00000560309.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000453753.1", "url": "https://www.ensembl.org/id/ENSP00000453753.1" } ] } }, { "isoform_ac": "H3BV91-1", "url": "", "sequence": { "sequence": "MFRAAAPGQLRRAASLLRFQSTLVIAEHANDSLAPITLNTITAATRLGGEVSCLVAGTKCDKVAQDLCKVAGIAKVLVAQHDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLLPRVAAKLEVAPISDIIAIKSPDTFVRTIYAGNALCTVKCDEKVKVFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDRPELTGAKVVVSGGRGLKSGENFKLLYDLADQLHAAVGASRAAVDAGFVPNDMQVGQTGKIVAPELYIAVGISGAIQHLAGMKDSKLPGLYHVPILDILASSAHLSEEPL", "length": 318, "header": "tr|H3BV91-1|H3BV91_HUMAN Computationally mapped isoform of Electron transfer flavoprotein subunit alpha OS=Homo sapiens OX=9606 GN=ETFA PE=1 SV=2 CANONICAL=P13804-1" }, "locus": { "chromosome": "15", "start_pos": 76311388, "end_pos": 76227826, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000565910.6", "url": "https://www.ensembl.org/id/ENST00000565910.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000458001.2", "url": "https://www.ensembl.org/id/ENSP00000458001.2" } ] } }, { "isoform_ac": "J3KN60-1", "url": "", "sequence": { "sequence": "MFRAAAPGQLRRAASLLRFQSTLVIAEHANDSLAPITLNTITAATRLGGEVSCLVAGTKCDKRN", "length": 64, "header": "tr|J3KN60-1|J3KN60_HUMAN Computationally mapped isoform of Electron transfer flavoprotein subunit alpha, mitochondrial OS=Homo sapiens OX=9606 GN=ETFA PE=1 SV=1 CANONICAL=P13804-1" }, "locus": { "chromosome": "15", "start_pos": 76311388, "end_pos": 76292508, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000267950.12", "url": "https://www.ensembl.org/id/ENST00000267950.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000267950.8", "url": "https://www.ensembl.org/id/ENSP00000267950.8" } ] } }, { "isoform_ac": "P13804-1", "url": "", "sequence": { "sequence": "MFRAAAPGQLRRAASLLRFQSTLVIAEHANDSLAPITLNTITAATRLGGEVSCLVAGTKCDKVAQDLCKVAGIAKVLVAQHDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLLPRVAAKLEVAPISDIIAIKSPDTFVRTIYAGNALCTVKCDEKVKVFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDRPELTGAKVVVSGGRGLKSGENFKLLYDLADQLHAAVGASRAAVDAGFVPNDMQVGQTGKIVAPELYIAVGISGAIQHLAGMKDSKTIVAINKDPEAPIFQVADYGIVADLFKVVPEMTEILKKK", "length": 333, "header": "sp|P13804-1|ETFA_HUMAN Isoform 1 of Electron transfer flavoprotein subunit alpha, mitochondrial OS=Homo sapiens OX=9606 GN=ETFA PE=1 SV=1 CANONICAL=P13804-1" }, "locus": { "chromosome": "15", "start_pos": 76311388, "end_pos": 76216562, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000557943.6", "url": "https://www.ensembl.org/id/ENST00000557943.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000452762.1", "url": "https://www.ensembl.org/id/ENSP00000452762.1" } ] } }, { "isoform_ac": "P13804-2", "url": "", "sequence": { "sequence": "MFRAAAPGQLRRAVAQDLCKVAGIAKVLVAQHDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLLPRVAAKLEVAPISDIIAIKSPDTFVRTIYAGNALCTVKCDEKVKVFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDRPELTGAKVVVSGGRGLKSGENFKLLYDLADQLHAAVGASRAAVDAGFVPNDMQVGQTGKIVAPELYIAVGISGAIQHLAGMKDSKTIVAINKDPEAPIFQVADYGIVADLFKVVPEMTEILKKK", "length": 284, "header": "sp|P13804-2|ETFA_HUMAN Isoform 2 of Electron transfer flavoprotein subunit alpha, mitochondrial OS=Homo sapiens OX=9606 GN=ETFA PE=1 SV=1 CANONICAL=P13804-1" }, "locus": { "chromosome": "15", "start_pos": 76311388, "end_pos": 76216562, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000433983.6", "url": "https://www.ensembl.org/id/ENST00000433983.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000399273.2", "url": "https://www.ensembl.org/id/ENSP00000399273.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P13804", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13804" }, { "id": "26374642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26374642" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" } ] } ], "phosphorylation": [ { "start_pos": 140, "end_pos": 140, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P13804", "url": "https://www.uniprot.org/uniprot/P13804" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P13804", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13804" } ], "site_lbl": "Ser140" }, { "start_pos": 207, "end_pos": 207, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P13804", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13804" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser207" }, { "start_pos": 213, "end_pos": 213, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P13804", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13804" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr213" }, { "start_pos": 42, "end_pos": 42, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P13804", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13804" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Thr42" }, { "start_pos": 93, "end_pos": 93, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P13804", "url": "https://www.uniprot.org/uniprot/P13804" } ], "site_lbl": "Thr93" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Defects in mitochondrial beta-oxidation of fatty acids.", "journal": "Current opinion in lipidology", "date": "1999", "authors": "Wood PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "10327278", "url": "https://glygen.org/publication/PubMed/10327278" } ] }, { "title": "A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation.", "journal": "Molecular genetics and metabolism", "date": "1999", "authors": "Bross P, Pedersen P, Winter V, Nyholm M, Johansen BN, Olsen RK, Corydon MJ, Andresen BS, Eiberg H, Kolvraa S, Gregersen N", "evidence": [ { "database": "UniProtKB", "id": "P13804", "url": "https://www.uniprot.org/uniprot/P13804" } ], "reference": [ { "type": "PubMed", "id": "10356313", "url": "https://glygen.org/publication/PubMed/10356313" } ] }, { "title": "Human NADH:ubiquinone oxidoreductase.", "journal": "Journal of bioenergetics and biomembranes", "date": "2001", "authors": "Smeitink J, Sengers R, Trijbels F, van den Heuvel L", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "11695836", "url": "https://glygen.org/publication/PubMed/11695836" } ] }, { "title": "The energy-transducing NADH: quinone oxidoreductase, complex I.", "journal": "Molecular aspects of medicine", "date": "2002", "authors": "Yano T", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "12231006", "url": "https://glygen.org/publication/PubMed/12231006" } ] }, { "title": "Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.", "journal": "Human mutation", "date": "2003", "authors": "Olsen RK, Andresen BS, Christensen E, Bross P, Skovby F, Gregersen N", "evidence": [ { "database": "UniProtKB", "id": "P13804", "url": "https://www.uniprot.org/uniprot/P13804" } ], "reference": [ { "type": "PubMed", "id": 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"MFRAAAPGQLRRAASLLRFQSTLVIAEHANDSLAPITLNTITAAGRLGGEVSCLVAGTKCDKVVQDLCKVAGVAKVLVAQHDAYKGLLPEELTPLILETQKQFSYTHICAGASAFGKNLLPRVAAKLNVAPVSDIIEIKSPDTFVRTIYAGNALCTVKCDEKVKVFSVRGTSFEAAATSGGSASSEKAPSSSSVGISEWLDQKLTKSDRPELTGAKVVVSGGRGLKSGENFKLLYDLADQLHAAVGASRAAVDAGFVPNDMQVGQTGKIVAPELYIAVGISGAIQHLAGMKDSKTIVAINKDPEAPIFQVADYGIVADLFKVVPEMTEILKKK", "length": 333 }, "evidence": [ { "id": "45918009", "url": "http://www.informatics.jax.org/homology/45918009", "database": "MGI" }, { "id": "P13804", "url": "https://omabrowser.org/oma/group/P13804/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "P13804", "url": "https://www.uniprot.org/uniprot/P13804" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P13804", "url": "https://www.uniprot.org/uniprot/P13804" } ], "pmid": "" }, { "name": "electron transfer flavoprotein complex", "id": "GO:0045251", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045251", "evidence": [ { "database": "UniProtKB", "id": "P13804", "url": "https://www.uniprot.org/uniprot/P13804" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "electron transfer activity", "id": "GO:0009055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009055", "evidence": [ { "database": "UniProtKB", "id": "P13804", "url": "https://www.uniprot.org/uniprot/P13804" } ], "pmid": "" }, { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "P13804", "url": "https://www.uniprot.org/uniprot/P13804" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "P13804", "url": "https://www.uniprot.org/uniprot/P13804" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "fatty acid beta-oxidation using acyl-CoA dehydrogenase", "id": "GO:0033539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033539", "evidence": [ { "database": "UniProtKB", "id": "P13804", "url": "https://www.uniprot.org/uniprot/P13804" } ], "pmid": "" }, { "name": "respiratory electron transport chain", "id": "GO:0022904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022904", "evidence": [ { "database": "UniProtKB", "id": "P13804", "url": "https://www.uniprot.org/uniprot/P13804" } ], "pmid": "" }, { "name": "amino acid catabolic process", "id": "GO:0009063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009063", "evidence": [ { "database": "UniProtKB", "id": "P13804", "url": "https://www.uniprot.org/uniprot/P13804" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 104, "end_pos": 106, "annotation": "n_glycosylation_sequon" }, { "start_pos": 30, "end_pos": 32, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "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": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 42, 93, 140, 207, 213 ], "sequon_annotation_sites": [ { "start_pos": 104, "end_pos": 106 }, { "start_pos": 30, "end_pos": 32 } ] }, "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" ] }, { "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": "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" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 38 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }