{ "uniprot_canonical_ac": "O95363-1", "uniprot_ac": "O95363", "uniprot_id": "SYFM_HUMAN", "mass": { "chemical_mass": 52357.0, "monoisotopic_mass": 52357.0 }, "refseq": { "ac": "NP_001305801", "name": "phenylalanine--tRNA ligase, mitochondrial isoform 1", "summary": "This gene encodes a protein that transfers phenylalanine to its cognate tRNA. This protein localizes to the mitochondrion and plays a role in mitochondrial protein translation. Mutations in this gene can cause combined oxidative phosphorylation deficiency 14 (Alpers encephalopathy). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305801" }, "gene_names": [ { "name": "FARS2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95363", "id": "O95363" }, { "name": "COXPD14; FARS1; HSPC320; mtPheRS; PheRS; SPG77", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305801", "id": "NP_001305801" }, { "name": "FARS1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95363", "id": "O95363" }, { "name": "FARS2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305801", "id": "NP_001305801" }, { "name": "HSPC320", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95363", "id": "O95363" } ], "protein_names": [ { "name": "Phenylalanine--tRNA ligase, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95363" }, { "name": "6.1.1.20", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95363" }, { "name": "PheRS", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95363" }, { "name": "Phenylalanyl-tRNA synthetase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95363" }, { "name": "phenylalanine--tRNA ligase, mitochondrial isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305801", "id": "NP_001305801" }, { "name": "phenylalanine-tRNA synthetase 1 (mitochondrial); phenylalanine tRNA ligase 2, mitochondrial; phenylalanine translase; dJ236A3.1 (phenylalanine-tRNA synthetase); dJ520B18.2 (FARS1 (phenylalanine-tRNA synthetase)); mitochondrial PHERS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305801", "id": "NP_001305801" } ], "function": [ { "annotation": "Breaking a single hydrogen bond in the mitochondrial tRNA(Phe) -PheRS complex leads to phenotypic pleiotropy of human disease.", "evidence": [ { "database": "RefSeq", "id": "NP_001305801", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305801" }, { "database": "PubMed", "id": "32115907", "url": "https://glygen.org/publication/PubMed/32115907" } ] }, { "annotation": "Formation of the PheRS-tRNAPhe complex in human mitochondria must be accompanied by considerable rearrangement of the anticodon binding domain upon tRNA binding.", "evidence": [ { "database": "RefSeq", "id": "NP_001305801", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305801" }, { "database": "PubMed", "id": "18611382", "url": "https://glygen.org/publication/PubMed/18611382" } ] }, { "annotation": "Is responsible for the charging of tRNA(Phe) with phenylalanine in mitochondrial translation. To a lesser extent, also catalyzes direct attachment of m-Tyr (an oxidized version of Phe) to tRNA(Phe), thereby opening the way for delivery of the misacylated tRNA to the ribosome and incorporation of ROS-damaged amino acid into proteins.", "evidence": [ { "database": "UniProtKB", "id": "O95363", "url": "https://www.uniprot.org/uniprot/O95363#function" }, { "database": "PubMed", "id": "22833457", "url": "https://glygen.org/publication/PubMed/22833457" }, { "database": "PubMed", "id": "19549855", "url": "https://glygen.org/publication/PubMed/19549855" } ] }, { "annotation": "Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.", "evidence": [ { "database": "RefSeq", "id": "NP_001305801", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305801" }, { "database": "PubMed", "id": "33168986", "url": "https://glygen.org/publication/PubMed/33168986" } ] }, { "annotation": "Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.", "evidence": [ { "database": "RefSeq", "id": "NP_001305801", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305801" }, { "database": "PubMed", "id": "33972171", "url": "https://glygen.org/publication/PubMed/33972171" } ] }, { "annotation": "The recombinant human enzyme has been purified to homogeneity and crystallized in complex with phenylalanine and ATP.", "evidence": [ { "database": "RefSeq", "id": "NP_001305801", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305801" }, { "database": "PubMed", "id": "17768348", "url": "https://glygen.org/publication/PubMed/17768348" } ] }, { "annotation": "This gene encodes a protein that transfers phenylalanine to its cognate tRNA. This protein localizes to the mitochondrion and plays a role in mitochondrial protein translation. Mutations in this gene can cause combined oxidative phosphorylation deficiency 14 (Alpers encephalopathy). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001305801", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305801" } ] }, { "annotation": "Two Chinese siblings of combined oxidative phosphorylation deficiency 14 caused by compound heterozygous variants in FARS2. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001305801", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305801" }, { "database": "PubMed", "id": "36155627", "url": "https://glygen.org/publication/PubMed/36155627" } ] } ], "disease": [ { "disease_id": "DOID:0110822", "recommended_name": { "id": "DOID:0110822", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110822", "name": "hereditary spastic paraplegia 77", "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the FARS2 gene on chromosome 6p25." }, "synonyms": [ { "id": "DOID:0110822", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110822", "name": "SPG77", "description": "" }, { "id": "DOID:0110822", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110822", "name": "autosomal recessive spastic paraplegia 77", "description": "" }, { "id": "MONDO:0014882", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014882", "name": "hereditary spastic paraplegia 77", "description": "Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated." }, { "id": "MONDO:0014882", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014882", "name": "FARS2 hereditary spastic paraplegia", "description": "" }, { "id": "MONDO:0014882", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014882", "name": "SPG77", "description": "" }, { "id": "MONDO:0014882", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014882", "name": "autosomal recessive spastic paraplegia 77", "description": "" }, { "id": "MONDO:0014882", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014882", "name": "hereditary spastic paraplegia caused by mutation in FARS2", "description": "" }, { "id": "MONDO:0014882", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014882", "name": "hereditary spastic paraplegia type 77", "description": "" }, { "id": "MONDO:0014882", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014882", "name": "spastic paraplegia 77, autosomal recessive", "description": "" }, { "id": "MONDO:0014882", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014882", "name": "autosomal recessive spastic paraplegia type 77", "description": "" }, { "id": "MIM:617046", "resource": "MIM", "url": "https://www.omim.org/entry/617046", "name": "Spastic paraplegia 77, autosomal recessive", "description": "Spastic paraplegia 77, autosomal recessive" } ], "evidence": [ { "id": "617046", "database": "MIM", "url": "https://www.omim.org/entry/617046" } ] }, { "disease_id": "DOID:0111477", "recommended_name": { "id": "DOID:0111477", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111477", "name": "combined oxidative phosphorylation deficiency 14", "description": "A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the FARS2 gene on chromosome 6p25.1." }, "synonyms": [ { "id": "DOID:0111477", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111477", "name": "COXPD14", "description": "" }, { "id": "MONDO:0013986", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013986", "name": "combined oxidative phosphorylation defect type 14", "description": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the FARS2 gene." }, { "id": "MONDO:0013986", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013986", "name": "COXPD14", "description": "" }, { "id": "MONDO:0013986", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013986", "name": "FARS2 combined oxidative phosphorylation deficiency", "description": "" }, { "id": "MONDO:0013986", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013986", "name": "combined oxidative phosphorylation deficiency caused by mutation in FARS2", "description": "" }, { "id": "MONDO:0013986", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013986", "name": "combined oxidative phosphorylation deficiency type 14", "description": "" }, { "id": "MONDO:0013986", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013986", "name": "combined oxidative phosphorylation deficiency 14", "description": "" }, { "id": "MIM:614946", "resource": "MIM", "url": "https://www.omim.org/entry/614946", "name": "Combined oxidative phosphorylation deficiency 14", "description": "Combined oxidative phosphorylation deficiency 14" } ], "evidence": [ { "id": "614946", "database": "MIM", "url": "https://www.omim.org/entry/614946" } ] } ], "snv": [ { "evidence": [ { "id": "O95363", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95363" } ], "glycoeffect": [], "start_pos": 330, "end_pos": 330, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "5545264", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R330", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID: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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] }, { "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": 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"" }, { "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, 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"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", 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"resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95363", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95363" } ], "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": 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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": 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"http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11538:SF41", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "3CMQ", "url": "https://www.rcsb.org/structure/3CMQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3HFV", "url": "https://www.rcsb.org/structure/3HFV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3TEG", "url": "https://www.rcsb.org/structure/3TEG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3TUP", "url": "https://www.rcsb.org/structure/3TUP", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5MGH", "url": "https://www.rcsb.org/structure/5MGH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5MGU", "url": "https://www.rcsb.org/structure/5MGU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5MGV", "url": "https://www.rcsb.org/structure/5MGV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5MGW", "url": "https://www.rcsb.org/structure/5MGW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8P8X", "url": "https://www.rcsb.org/structure/8P8X", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF01409", "url": "http://pfam.xfam.org/family/PF01409", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF03147", "url": "http://pfam.xfam.org/family/PF03147", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O95363", "url": "https://pharos.nih.gov/targets/O95363", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O95363", "url": "http://purl.obolibrary.org/obo/PR_O95363", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-379726", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379726", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001305801", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305801", "database": "RefSeq", 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"UniProtKB", "categories": [ "Protein" ] }, { "id": "R4GMX6-1", "url": "https://www.uniprot.org/uniprot/R4GMX6-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MVGSALRRGAHAYVYLVSKASHISRGHQHQAWGSRPPAAECATQRAPGSVVELLGKSYPQDDHSNLTRKVLTRVGRNLHNQQHHPLWLIKERVKEHFYKQYVGRFGTPLFSVYDNLSPVVTTWQNFDSLLIPADHPSRKKGDNYYLNRTHMLRAHTSAHQWDLLHAGLDAFLVVGDVYRRDQIDSQHYPIFHQLEAVRLFSKHELFAGIKDGESLQLFEQSSRSAHKQETHTMEAVKLVEFDLKQTLTRLMAHLFGDELEIRWVDCYFPFTHPSFEMEINFHGEWLEVLGCGVMEQQLVNSAGAQDRIGWAFGLGLERLAMILYDIPDIRLFWCEDERFLKQFCVSNINQKVKFQPLSKYPAVINDISFWLPSENYAENDFYDLVRTIGGDLVEKVDLIDKFVHPKTHKTSHCYRITYRHMERTLSQREVRHIHQALQEAAVQLLGVEGRF", "length": 451, "header": "sp|O95363-1|SYFM_HUMAN Isoform 1 of Phenylalanine--tRNA ligase, mitochondrial OS=Homo sapiens OX=9606 GN=FARS2 PE=1 SV=1 CANONICAL=O95363-1" }, "isoforms": [ { "isoform_ac": "A0A3B3ITR6-1", "url": "", "sequence": { "sequence": "MVGSALRRGAHAYVYLVSKASHISRGHQHQAWGSRPPAAECATQRAPGSVVELLGKSYPQDDHSNLTRKVLTRVGRNLHNQQHHPLWLIKERVKEHFYKQYVGRFGTPLFSVYDNLSPVVTTWQNFDSLLIPADHPSRKKGDNYYLNRTHMLRAHTSAHQWDLLHAGLDAFLVVGDVYRRDQIDSQHYPIFHQLEAVRLFSKHELFAGIKDGESLQLFEQSSRSAHKQETHTMEAVKLVEFDLKQTLTRLMAHLFGDELEIRWVDCYFPFTHPSFEMEINFHGEWLEVLGCGVMEQQLVNSAGAQDRIGWAFGLGLERLAMILYDIPDIRLFWCEDERFLKQFCVSNINQKVKFQPLSKYPAVINDISFWLPSENYAENDFYDLVRTIGGDLVEKVDLIDKFVHPKKSPWNWKVASLKHSRNELKSLKEGLGN", "length": 433, "header": "tr|A0A3B3ITR6-1|A0A3B3ITR6_HUMAN Computationally mapped isoform of phenylalanine--tRNA ligase OS=Homo sapiens OX=9606 GN=FARS2 PE=1 SV=1 CANONICAL=O95363-1" }, "locus": { "chromosome": "6", "start_pos": 5821789, "end_pos": 5368571, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000648580.1", "url": "https://www.ensembl.org/id/ENST00000648580.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497889.1", "url": "https://www.ensembl.org/id/ENSP00000497889.1" } ] } }, { "isoform_ac": "O95363-1", "url": "", "sequence": { "sequence": "MVGSALRRGAHAYVYLVSKASHISRGHQHQAWGSRPPAAECATQRAPGSVVELLGKSYPQDDHSNLTRKVLTRVGRNLHNQQHHPLWLIKERVKEHFYKQYVGRFGTPLFSVYDNLSPVVTTWQNFDSLLIPADHPSRKKGDNYYLNRTHMLRAHTSAHQWDLLHAGLDAFLVVGDVYRRDQIDSQHYPIFHQLEAVRLFSKHELFAGIKDGESLQLFEQSSRSAHKQETHTMEAVKLVEFDLKQTLTRLMAHLFGDELEIRWVDCYFPFTHPSFEMEINFHGEWLEVLGCGVMEQQLVNSAGAQDRIGWAFGLGLERLAMILYDIPDIRLFWCEDERFLKQFCVSNINQKVKFQPLSKYPAVINDISFWLPSENYAENDFYDLVRTIGGDLVEKVDLIDKFVHPKTHKTSHCYRITYRHMERTLSQREVRHIHQALQEAAVQLLGVEGRF", "length": 451, "header": "sp|O95363-1|SYFM_HUMAN Isoform 1 of Phenylalanine--tRNA ligase, mitochondrial OS=Homo sapiens OX=9606 GN=FARS2 PE=1 SV=1 CANONICAL=O95363-1" }, "locus": { "chromosome": "6", "start_pos": 5771426, "end_pos": 5368571, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000274680.9", "url": "https://www.ensembl.org/id/ENST00000274680.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000274680.4", "url": "https://www.ensembl.org/id/ENSP00000274680.4" } ] } }, { "isoform_ac": "Q5JRF7-1", "url": "", "sequence": { "sequence": "LFAGIKDGESLQLFEQSSRSAHKQETHTMEAVKLVEFDLKQTLTRLMAHLFGDELEIRWVDCYFPFTHPSFEMEINFHGEWLEVLGCGVMEQQLVNSGGAT", "length": 101, "header": "tr|Q5JRF7-1|SYFM_HUMAN Computationally mapped isoform of Phenylalanine--tRNA ligase, mitochondrial OS=Homo sapiens OX=9606 GN=FARS2 PE=1 SV=1 CANONICAL=O95363-1" }, "locus": { "chromosome": "6", "start_pos": 5431679, "end_pos": 5404542, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000445533.1", "url": "https://www.ensembl.org/id/ENST00000445533.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000392525.1", "url": "https://www.ensembl.org/id/ENSP00000392525.1" } ] } }, { "isoform_ac": "R4GMX6-1", "url": "", "sequence": { "sequence": "MVGSALRRGAHAYVYLVSKASHISRGHQHQAWGSRPPAAECATQRAP", "length": 47, "header": "tr|R4GMX6-1|R4GMX6_HUMAN Computationally mapped isoform of Phenylalanyl-tRNA synthetase 2, mitochondrial OS=Homo sapiens OX=9606 GN=FARS2 PE=4 SV=1 CANONICAL=O95363-1" }, "locus": { "chromosome": "6", "start_pos": 5368711, "end_pos": 5368571, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000602691.1", "url": "https://www.ensembl.org/id/ENST00000602691.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000473394.1", "url": "https://www.ensembl.org/id/ENSP00000473394.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Expression and characterization of a human mitochondrial phenylalanyl-tRNA synthetase.", "journal": "J. Mol. Biol.", "date": "1999", "authors": "Bullard JM, Cai YC, Demeler B, Spremulli LL", "evidence": [ { "database": "UniProtKB", "id": "O95363", "url": "https://www.uniprot.org/uniprot/O95363" }, { "database": "Reactome", "id": "R-HSA-379726", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379726" } ], "reference": [ { "type": "PubMed", "id": "10329163", "url": "https://glygen.org/publication/PubMed/10329163" } ] }, { "title": "Expression and characterization of the human mitochondrial leucyl-tRNA synthetase.", "journal": "Biochimica et biophysica acta", "date": "2000", "authors": "Bullard JM, Cai YC, Spremulli LL", "evidence": [ { "database": "Reactome", "id": "R-HSA-379726", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379726" } ], "reference": [ { "type": "PubMed", "id": "10684970", "url": "https://glygen.org/publication/PubMed/10684970" } ] }, { "title": "Characterization and tRNA recognition of mammalian mitochondrial seryl-tRNA synthetase.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Yokogawa T, Shimada N, Takeuchi N, Benkowski L, Suzuki T, Omori A, Ueda T, Nishikawa K, Spremulli LL, Watanabe K", "evidence": [ { "database": "Reactome", "id": "R-HSA-379726", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379726" } ], "reference": [ { "type": "PubMed", "id": "10764807", "url": "https://glygen.org/publication/PubMed/10764807" } ] }, { "title": "Identification and characterization of human mitochondrial tryptophanyl-tRNA synthetase.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Jorgensen R, Sogaard TM, Rossing AB, Martensen PM, Justesen J", "evidence": [ { "database": "Reactome", "id": "R-HSA-379726", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379726" } ], "reference": [ { "type": "PubMed", "id": "10828066", "url": "https://glygen.org/publication/PubMed/10828066" } ] }, { "title": "Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.", "journal": "American journal of human genetics", "date": "2003", "authors": "Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED", "evidence": [ { "database": "Reactome", "id": "R-HSA-379726", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379726" } ], "reference": [ { "type": "PubMed", "id": "12690580", "url": "https://glygen.org/publication/PubMed/12690580" } ] }, { "title": "Characterization of the human mitochondrial methionyl-tRNA synthetase.", "journal": "Biochemistry", "date": "2004", "authors": "Spencer AC, Heck A, Takeuchi N, Watanabe K, Spremulli LL", "evidence": [ { "database": "Reactome", "id": "R-HSA-379726", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379726" } ], "reference": [ { "type": "PubMed", "id": "15274629", "url": "https://glygen.org/publication/PubMed/15274629" } ] }, { "title": "Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS.", "journal": "Biochemistry", "date": "2005", "authors": "Bonnefond L, Fender A, Rudinger-Thirion J, Giege R, Florentz C, Sissler M", "evidence": [ { "database": "Reactome", "id": "R-HSA-379726", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379726" } ], "reference": [ { "type": "PubMed", "id": "15779907", "url": "https://glygen.org/publication/PubMed/15779907" } ] }, { "title": "Human mitochondrial pyrophosphatase: cDNA cloning and analysis of the gene in patients with mtDNA depletion syndromes.", "journal": "Genomics", "date": "2006", "authors": "Curbo S, Lagier-Tourenne C, Carrozzo R, Palenzuela L, Lucioli S, Hirano M, Santorelli F, Arenas J, Karlsson A, Johansson M", "evidence": [ { "database": "Reactome", "id": "R-HSA-379726", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379726" } ], "reference": [ { "type": "PubMed", "id": "16300924", "url": "https://glygen.org/publication/PubMed/16300924" } ] }, { "title": "Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.", "journal": "Nature genetics", "date": "2007", "authors": "Scheper GC, van der Klok T, van Andel RJ, van Berkel CG, Sissler M, Smet J, Muravina TI, Serkov SV, Uziel G, Bugiani M, Schiffmann R, Krageloh-Mann I, Smeitink JA, Florentz C, Van Coster R, Pronk JC, van der Knaap MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-379726", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379726" } ], "reference": [ { "type": "PubMed", "id": "17384640", "url": "https://glygen.org/publication/PubMed/17384640" } ] }, { "title": "Purification, crystallization and preliminary X-ray characterization of a human mitochondrial phenylalanyl-tRNA synthetase.", "journal": "Acta crystallographica. Section F, Structural biology and crystallization communications", "date": "2007", "authors": "Levin I, Kessler N, Moor N, Klipcan L, Koc E, Templeton P, Spremulli L, Safro M", "evidence": [ { "database": "RefSeq", "id": "NP_001305801", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305801" } ], "reference": [ { "type": "PubMed", "id": "17768348", "url": "https://glygen.org/publication/PubMed/17768348" } ] }, { "title": "Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia.", "journal": "American journal of human genetics", "date": "2007", "authors": "Edvardson S, Shaag A, Kolesnikova O, Gomori JM, Tarassov I, Einbinder T, Saada A, Elpeleg O", "evidence": [ { "database": "Reactome", "id": "R-HSA-379726", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379726" } ], "reference": [ { "type": "PubMed", "id": "17847012", "url": "https://glygen.org/publication/PubMed/17847012" } ] }, { "title": "The tRNA-induced conformational activation of human mitochondrial phenylalanyl-tRNA synthetase.", "journal": "Structure", "date": "2008", "authors": "Klipcan L, Levin I, Kessler N, Moor N, Finarov I, Safro M", "evidence": [ { "database": "UniProtKB", "id": "O95363", "url": "https://www.uniprot.org/uniprot/O95363" }, { "database": "RefSeq", "id": "NP_001305801", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305801" } ], "reference": [ { "type": "PubMed", "id": "18611382", "url": "https://glygen.org/publication/PubMed/18611382" } ] }, { "title": "Eukaryotic cytosolic and mitochondrial phenylalanyl-tRNA synthetases catalyze the charging of tRNA with the meta-tyrosine.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "Klipcan L, Moor N, Kessler N, Safro MG", "evidence": [ { "database": "UniProtKB", "id": "O95363", "url": "https://www.uniprot.org/uniprot/O95363" } ], "reference": [ { "type": "PubMed", "id": "19549855", "url": "https://glygen.org/publication/PubMed/19549855" } ] }, { "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O95363", "url": "https://www.uniprot.org/uniprot/O95363" } ], "reference": [ { "type": "PubMed", "id": "19608861", "url": "https://glygen.org/publication/PubMed/19608861" } ] }, { "title": "Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.", "journal": "Journal of medical genetics", "date": "2012", "authors": "Shamseldin HE, Alshammari M, Al-Sheddi T, Salih MA, Alkhalidi H, Kentab A, Repetto GM, Hashem M, Alkuraya FS", "evidence": [ { "database": "UniProtKB", "id": "O95363", "url": "https://www.uniprot.org/uniprot/O95363" } ], "reference": [ { "type": "PubMed", "id": "22499341", "url": "https://glygen.org/publication/PubMed/22499341" } ] }, { "title": "Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.", "journal": "Human molecular genetics", "date": "2012", "authors": "Elo JM, Yadavalli SS, Euro L, Isohanni P, Gotz A, Carroll CJ, Valanne L, Alkuraya FS, Uusimaa J, Paetau A, Caruso EM, Pihko H, Ibba M, Tyynismaa H, Suomalainen A", "evidence": [ { "database": "UniProtKB", "id": "O95363", "url": "https://www.uniprot.org/uniprot/O95363" } ], "reference": [ { "type": "PubMed", "id": "22833457", "url": "https://glygen.org/publication/PubMed/22833457" } ] }, { "title": "A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia.", "journal": "Human mutation", "date": "2016", "authors": "Yang Y, Liu W, Fang Z, Shi J, Che F, He C, Yao L, Wang E, Wu Y", "evidence": [ { "database": "UniProtKB", "id": "O95363", "url": "https://www.uniprot.org/uniprot/O95363" } ], "reference": [ { "type": "PubMed", "id": "26553276", "url": "https://glygen.org/publication/PubMed/26553276" } ] }, { "title": "Breaking a single hydrogen bond in the mitochondrial tRNA(Phe) -PheRS complex leads to phenotypic pleiotropy of human disease.", "journal": "The FEBS journal", "date": "2020", "authors": "Peretz M, Tworowski D, Kartvelishvili E, Livingston J, Chrzanowska-Lightowlers Z, Safro M", "evidence": [ { "database": "RefSeq", "id": "NP_001305801", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305801" } ], "reference": [ { "type": "PubMed", "id": "32115907", "url": "https://glygen.org/publication/PubMed/32115907" } ] }, { "title": "Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.", "journal": "European journal of human genetics : EJHG", "date": "2021", "authors": "Barcia G, Rio M, Assouline Z, Zangarelli C, Roux CJ, de Lonlay P, Steffann J, Desguerre I, Munnich A, Bonnefont JP, Boddaert N, Rotig A, Metodiev MD, Ruzzenente B", "evidence": [ { "database": "RefSeq", "id": "NP_001305801", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305801" } ], "reference": [ { "type": "PubMed", "id": "33168986", "url": "https://glygen.org/publication/PubMed/33168986" } ] }, { "title": "Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.", "journal": "Molecular genetics and metabolism", "date": "2021", "authors": "Roux CJ, Barcia G, Schiff M, Sissler M, Levy R, Dangouloff-Ros V, Desguerre I, Edvardson S, Elpeleg O, Rotig A, Munnich A, Boddaert N", "evidence": [ { "database": "RefSeq", "id": "NP_001305801", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305801" } ], "reference": [ { "type": "PubMed", "id": "33972171", "url": "https://glygen.org/publication/PubMed/33972171" } ] }, { "title": "Two Chinese siblings of combined oxidative phosphorylation deficiency 14 caused by compound heterozygous variants in FARS2.", "journal": "European journal of medical research", "date": "2022", "authors": "Li L, Ma J, Wang J, Dong L, Liu S", "evidence": [ { "database": "RefSeq", "id": "NP_001305801", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305801" } ], "reference": [ { "type": "PubMed", "id": "36155627", "url": "https://glygen.org/publication/PubMed/36155627" } ] }, { "title": "A novel gene oriented in a head-to-head configuration with the human histidyl-tRNA synthetase (HRS) gene encodes an mRNA that predicts a polypeptide homologous to HRS.", "journal": "Biochemical and biophysical research communications", "date": "1995", "authors": "O'Hanlon TP, Raben N, Miller FW", "evidence": [ { "database": "Reactome", "id": "R-HSA-379726", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379726" } ], "reference": [ { "type": "PubMed", "id": "7755634", "url": "https://glygen.org/publication/PubMed/7755634" } ] }, { "title": "Evolution of the Glx-tRNA synthetase family: the glutaminyl enzyme as a case of horizontal gene transfer.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Lamour V, Quevillon S, Diriong S, N'Guyen VC, Lipinski M, Mirande M", "evidence": [ { "database": "Reactome", "id": "R-HSA-379726", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379726" } ], "reference": [ { "type": "PubMed", "id": "8078941", "url": "https://glygen.org/publication/PubMed/8078941" } ] }, { "title": "Human lysyl-tRNA synthetase accepts nucleotide 73 variants and rescues Escherichia coli double-defective mutant.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Shiba K, Stello T, Motegi H, Noda T, Musier-Forsyth K, Schimmel P", "evidence": [ { "database": "Reactome", "id": "R-HSA-379726", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379726" } ], "reference": [ { "type": "PubMed", "id": "9278442", "url": "https://glygen.org/publication/PubMed/9278442" } ] }, { "title": "Isoleucylation properties of native human mitochondrial tRNAIle and tRNAIle transcripts. Implications for cardiomyopathy-related point mutations (4269, 4317) in the tRNAIle gene.", "journal": "Human molecular genetics", "date": "1998", "authors": "Degoul F, Brule H, Cepanec C, Helm M, Marsac C, Leroux J, Giege R, Florentz C", "evidence": [ { "database": "Reactome", "id": "R-HSA-379726", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379726" } ], "reference": [ { "type": "PubMed", "id": "9466989", "url": "https://glygen.org/publication/PubMed/9466989" } ] } ], "pathway": [ { "id": "hsa:10667", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10667", "resource": "KEGG Pathway" }, { "id": "R-HSA-379726", "name": "Mitochondrial tRNA aminoacylation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-379726", "resource": "Reactome", "description": "Mitochondrial tRNA aminoacylation" } ], "orthologs": [ { "uniprot_canonical_ac": "O16129-1", "protein_name": "Probable phenylalanine--tRNA ligase, mitochondrial", "gene_name": "PheRS-m", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MLLTLRVQGARHWLKSTRCLASSAAPAKSPSSPPQLEVSGSTYATDGWTNVTPKILSYVGANKHLQTDHPLSIIRQRIVNYFYGAYRNQRGNPLFSVYDQMNPVVTVQQNFDNLLIPADHVSRQKSDCYYINQQHLLRAHTTAHQVELISGGLDNFLVVGEVYRRDEIDSTHYPVFHQADAVRLVTKDKLFERNPGLELFEETWSGTLADPKLILPSSKFMDQTKQPCHTLEAVKLMEHEMKHVLVGLTKDLFGPRIKYRWVDTYFPFTQPSWELEIYFKDNWLEVLGCGIMRHEILQRSGVHQSIGYAFGVGLERLAMVLFDIPDIRLFWSNDSGFLSQFSEKDLHNLPKYKPISHYPQCTNDLSFWLPQDIEVDAGFSPNDFYDLVRSVAGDMVEQISLVDKFKHPKTGKSSVCFRIVYRHMERTLTQAEVNEIHKQIASASVDSFNVQIR", "length": 453 }, "evidence": [ { "id": "O95363", "url": "https://omabrowser.org/oma/group/O95363/", "database": "OMA" } ], "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "P08425-1", "protein_name": "Phenylalanine--tRNA ligase, mitochondrial", "gene_name": "MSF1", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MFLNRMMKTRTGLYRLYSTLKVPHVEINGIKYKTDPQTTNVTDSIIKLTDRSLHLKESHPVGILRDLIEKKLNSVDNTFKIFNNFKPVVTTMENFDSLGFPKDHPGRSKSDTYYINETHLLRTHTSAHELECFQKIRNDSDNIKSGFLISADVYRRDEIDKTHYPVFHQMEGATIWKRTKADVGVKEPMYIEKIREDIRQVENLLNKENVKITVDDDTIPLKENNPKQEYMSDLEVDLCSQHLKRSIELIVSEVFNKKISSMIKNKANNTPKELKVRWINAYFPWTAPSWEIEVWWQGEWLELCGCGLIRQDVLLRAGYKPSETIGWAFGLGLDRIAMLLFEIPDIRLLWSRDERFSRQFSKGLITSFKPYSKHPGSFRDVAFWLPEDKPDIHQVHENDLMEIIRNIAGDLVESVKLVDSFTHPKTGRKSMCYRINYQSMDRNLTNAEVNTLQDMVCSKLVKEYSVELR", "length": 469 }, "evidence": [ { "id": "O95363", "url": "https://omabrowser.org/oma/group/O95363/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q6AYQ3-1", "protein_name": "Phenylalanine--tRNA ligase, mitochondrial", "gene_name": "Fars2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MVCLAFIRAAHEHLYLVRKVSHVCRCHQHRAWGSRPAASQFAVQGAPGRVLELLGKSYPQDDHTNLTQKVLSKVGRNLHNQKFHPLWLIKERVKEHFYQQYMGRSRTPLFSVYDQLSPVVTTWQNFDSLLIPADHPSRKKGDNYYLNRGHMLRAHTSAHQWDLLHAGLNAFLVVGDVYRRDQIDSQHYPVFHQLEGVRLFSKHELFAGVKDGESLQLFEESSRSAHKQETHTMEAVKLVEFDLKQVLTRLVTHLFGDGLEVRWVDCYFPFTHPSFEMEINFRGEWLEVLGCGVMEQQLVNSAGAQDRIGWAFGLGLERLAMVLYDIPDIRLFWSEDERFLKQFRLSDINQSVKFQRWFFQEERATGIQRKMGRQLCPFSKYPAVFNDISFWLPSENYTENDFYDIVRTVGGDLVEKVDLIDKFEHPKTHRTSHCYRITYRHMERTLSQREVSSVHQAVQEAAVQLLGVEGRF", "length": 472 }, "evidence": [ { "id": "45930435", "url": "http://www.informatics.jax.org/homology/45930435", "database": "MGI" }, { "id": "O95363", "url": "https://omabrowser.org/oma/group/O95363/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q99M01-1", "protein_name": "Phenylalanine--tRNA ligase, mitochondrial", "gene_name": "Fars2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MVCLALVRAAYEHIYLVRKVSHACRCHQHRAWSSKPAASQSAVQGAPGSVLEILGKSYPQDDHTNLTQKVLSKVGRNLHNQKFHPLWLIKERVKEHFYQQYMVRSRTPLFSVYDQLPPVVTTWQNFDSLLIPADHPSRKKGDNYYLNRAHMLRAHTSAHQWDLLHAGLNAFLVVGDVYRRDQIDCQHYPVFHQLEGVRLFSKHELFAGVKDGESLQLFEEGSRSAHKQETHTMEAVKLVEFDLKQVLTRLVTHLFGDGLEVRWVDCYFPFTHPSFEMEINFRGEWLEVLGCGVMEQQLVNSAGAQDRIGWAFGLGLERLAMVLYDIPDIRLFWSEDERFLKQFLLSDINQSVKFQPLSKYPAVFNDISFWLPSENYTENDFYDIVRTVGGDLVEKVDLIDKFEHPKTHRTSHCYRITYRHMERTLSQREVGNVHQAVQEAAVQLLGVEGRF", "length": 451 }, "evidence": [ { "id": "45930435", "url": "http://www.informatics.jax.org/homology/45930435", "database": "MGI" }, { "id": "O95363", "url": "https://omabrowser.org/oma/group/O95363/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O95363", "url": "https://www.uniprot.org/uniprot/O95363" } ], "pmid": "" }, { "name": "tRNA binding", "id": "GO:0000049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000049", "evidence": [ { "database": "UniProtKB", "id": "O95363", "url": "https://www.uniprot.org/uniprot/O95363" } ], "pmid": "" }, { "name": "phenylalanine-tRNA ligase activity", "id": "GO:0004826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004826", "evidence": [ { "database": "UniProtKB", "id": "O95363", "url": "https://www.uniprot.org/uniprot/O95363" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "tRNA aminoacylation", "id": "GO:0043039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043039", "evidence": [ { "database": "UniProtKB", "id": "O95363", "url": "https://www.uniprot.org/uniprot/O95363" } ], "pmid": "" }, { "name": "tRNA processing", "id": "GO:0008033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008033", "evidence": [ { "database": "UniProtKB", "id": "O95363", "url": "https://www.uniprot.org/uniprot/O95363" } ], "pmid": "" }, { "name": "tRNA aminoacylation for protein translation", "id": "GO:0006418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006418", "evidence": [ { "database": "UniProtKB", "id": "O95363", "url": "https://www.uniprot.org/uniprot/O95363" } ], "pmid": "" }, { "name": "phenylalanyl-tRNA aminoacylation", "id": "GO:0006432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006432", "evidence": [ { "database": "UniProtKB", "id": "O95363", "url": "https://www.uniprot.org/uniprot/O95363" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O95363", "url": "https://www.uniprot.org/uniprot/O95363" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O95363", "url": "https://www.uniprot.org/uniprot/O95363" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "O95363", "url": "https://www.uniprot.org/uniprot/O95363" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 115, "end_pos": 117, "annotation": "n_glycosylation_sequon" }, { "start_pos": 147, "end_pos": 149, "annotation": "n_glycosylation_sequon" }, { "start_pos": 65, "end_pos": 67, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "19413", "name": "", "equation": "ATP + L-phenylalanine + tRNA(Phe) = AMP + diphosphate + H(+) + L-phenylalanyl-tRNA(Phe)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q6AYQ3-1", "Q505J8-1", "O95363-1", "Q9NSD9-1", "Q9Y285-1", "Q8C0C7-1", "Q99M01-1", "Q9WUA2-1", "P15624-1", "P15625-1", "P08425-1", "Q54KS8-1", "Q550D2-1", "Q86A68-1", "Q9VCA5-1", "O16129-1", "Q9W3J5-1" ], "evidence": [ { "id": "19413", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/19413" } ] }, { "id": "R-HSA-380203", "name": "phenylalanine + tRNA(Phe) + ATP => Phe-tRNA(Phe) + AMP + pyrophosphate", "equation": "", "summary": "FARS2 (mitochondrial phenylalanyl tRNA synthetase) catalyzes the reaction of phenylalanine, mitochondrial tRNA(Phe), and ATP to form Phe-tRNA(Phe), AMP, and pyrophosphate. The enzyme, a class II tRNA synthetase, is a monomer (Bullard et al. 1999).", "cellular_location": "mitochondrial matrix", "input_participant_list": [ "R-ALL-379701", "R-HSA-379760" ], "output_participant_list": [ "R-HSA-379789" ], "enzyme_list": [ "O95363-1" ], "evidence": [ { "id": "R-HSA-380203", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380203" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-379701", "participant_name": "L-Phe [mitochondrial matrix]", "crossref": [ { "id": "C00079", "database": "COMPOUND", "url": "" }, { "id": "58095", "database": "ChEBI", "url": "" }, { "id": "000000105196", "database": "ZINC", "url": "" } ] }, { "participant_id": "R-HSA-379760", "participant_name": "tRNA(Phe) [mitochondrial matrix]", "crossref": [ { "id": "29184", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-HSA-379789", "participant_name": "Phe-tRNA(Phe) [mitochondrial matrix]", "crossref": [ { "id": "29153", "database": "ChEBI", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O16129", "gene_name": "PheRS-m", "activity": [ { "ec_number": "6.1.1.20", "activity": "ATP + L-phenylalanine + tRNA(Phe) = AMP + diphosphate + H(+) + L-phenylalanyl-tRNA(Phe).", "evidence": [ { "id": "O16129", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O16129" } ] }, { "ec_number": "6.1.1.20", "activity": "", "evidence": [ { "id": "O16129", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O16129" } ] } ] }, { "uniprot_ac": "O95363", "gene_name": "FARS2", "activity": [ { "ec_number": "6.1.1.20", "activity": "ATP + L-phenylalanine + tRNA(Phe) = AMP + diphosphate + H(+) + L-phenylalanyl-tRNA(Phe).", "evidence": [ { "id": "O95363", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95363" } ] }, { "ec_number": "6.1.1.20", "activity": "", "evidence": [ { "id": "O95363", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95363" } ] } ] }, { "uniprot_ac": "P08425", "gene_name": "MSF1", "activity": [ { "ec_number": "6.1.1.20", "activity": "ATP + L-phenylalanine + tRNA(Phe) = AMP + diphosphate + H(+) + L-phenylalanyl-tRNA(Phe).", "evidence": [ { "id": "P08425", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08425" } ] }, { "ec_number": "6.1.1.20", "activity": "", "evidence": [ { "id": "P08425", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08425" } ] } ] }, { "uniprot_ac": "P15624", "gene_name": "FRS1", "activity": [ { "ec_number": "6.1.1.20", "activity": "ATP + L-phenylalanine + tRNA(Phe) = AMP + diphosphate + H(+) + L-phenylalanyl-tRNA(Phe).", "evidence": [ { "id": "P15624", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15624" } ] }, { "ec_number": "6.1.1.20", "activity": "", "evidence": [ { "id": "P15624", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15624" } ] } ] }, { "uniprot_ac": "P15625", "gene_name": "FRS2", "activity": [ { "ec_number": "6.1.1.20", "activity": "ATP + L-phenylalanine + tRNA(Phe) = AMP + diphosphate + H(+) + L-phenylalanyl-tRNA(Phe).", "evidence": [ { "id": "P15625", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15625" } ] }, { "ec_number": "6.1.1.20", "activity": "", "evidence": [ { "id": "P15625", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15625" } ] } ] }, { "uniprot_ac": "Q505J8", "gene_name": "Farsa", "activity": [ { "ec_number": "6.1.1.20", "activity": "ATP + L-phenylalanine + tRNA(Phe) = AMP + diphosphate + H(+) + L-phenylalanyl-tRNA(Phe).", "evidence": [ { "id": "Q505J8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q505J8" } ] }, { "ec_number": "6.1.1.20", "activity": "", "evidence": [ { "id": "Q505J8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q505J8" } ] } ] }, { "uniprot_ac": "Q54KS8", "gene_name": "phesA", "activity": [ { "ec_number": "6.1.1.20", "activity": "ATP + L-phenylalanine + tRNA(Phe) = AMP + diphosphate + H(+) + L-phenylalanyl-tRNA(Phe).", "evidence": [ { "id": "Q54KS8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54KS8" } ] }, { "ec_number": "6.1.1.20", "activity": "", "evidence": [ { "id": "Q54KS8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54KS8" } ] } ] }, { "uniprot_ac": "Q550D2", "gene_name": "phesB", "activity": [ { "ec_number": "6.1.1.20", "activity": "ATP + L-phenylalanine + tRNA(Phe) = AMP + diphosphate + H(+) + L-phenylalanyl-tRNA(Phe).", "evidence": [ { "id": "Q550D2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q550D2" } ] }, { "ec_number": "6.1.1.20", "activity": "", "evidence": [ { "id": "Q550D2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q550D2" } ] } ] }, { "uniprot_ac": "Q6AYQ3", "gene_name": "Fars2", "activity": [ { "ec_number": "6.1.1.20", "activity": "ATP + L-phenylalanine + tRNA(Phe) = AMP + diphosphate + H(+) + L-phenylalanyl-tRNA(Phe).", "evidence": [ { "id": "Q6AYQ3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6AYQ3" } ] }, { "ec_number": "6.1.1.20", "activity": "", "evidence": [ { "id": "Q6AYQ3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6AYQ3" } ] } ] }, { "uniprot_ac": "Q86A68", "gene_name": "mpheS", "activity": [ { "ec_number": "6.1.1.20", "activity": "ATP + L-phenylalanine + tRNA(Phe) = AMP + diphosphate + H(+) + L-phenylalanyl-tRNA(Phe).", "evidence": [ { "id": "Q86A68", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86A68" } ] }, { "ec_number": "6.1.1.20", "activity": "", "evidence": [ { "id": "Q86A68", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86A68" } ] } ] }, { "uniprot_ac": "Q8C0C7", "gene_name": "Farsa", "activity": [ { "ec_number": "6.1.1.20", "activity": "ATP + L-phenylalanine + tRNA(Phe) = AMP + diphosphate + H(+) + L-phenylalanyl-tRNA(Phe).", "evidence": [ { "id": "Q8C0C7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8C0C7" } ] }, { "ec_number": "6.1.1.20", "activity": "", "evidence": [ { "id": "Q8C0C7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8C0C7" } ] } ] }, { "uniprot_ac": "Q99M01", "gene_name": "Fars2", "activity": [ { "ec_number": "6.1.1.20", "activity": "ATP + L-phenylalanine + tRNA(Phe) = AMP + diphosphate + H(+) + L-phenylalanyl-tRNA(Phe).", "evidence": [ { "id": "Q99M01", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99M01" } ] }, { "ec_number": "6.1.1.20", "activity": "", "evidence": [ { "id": "Q99M01", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99M01" } ] } ] }, { "uniprot_ac": "Q9NSD9", "gene_name": "FARSB", "activity": [ { "ec_number": "6.1.1.20", "activity": "ATP + L-phenylalanine + tRNA(Phe) = AMP + diphosphate + H(+) + L-phenylalanyl-tRNA(Phe).", "evidence": [ { "id": "Q9NSD9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NSD9" } ] }, { "ec_number": "6.1.1.20", "activity": "", "evidence": [ { "id": "Q9NSD9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NSD9" } ] } ] }, { "uniprot_ac": "Q9VCA5", "gene_name": "beta-PheRS", "activity": [ { "ec_number": "6.1.1.20", "activity": "ATP + L-phenylalanine + tRNA(Phe) = AMP + diphosphate + H(+) + L-phenylalanyl-tRNA(Phe).", "evidence": [ { "id": "Q9VCA5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VCA5" } ] }, { "ec_number": "6.1.1.20", "activity": "", "evidence": [ { "id": "Q9VCA5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VCA5" } ] } ] }, { "uniprot_ac": "Q9W3J5", "gene_name": "alpha-PheRS", "activity": [ { "ec_number": "6.1.1.20", "activity": "ATP + L-phenylalanine + tRNA(Phe) = AMP + diphosphate + H(+) + L-phenylalanyl-tRNA(Phe).", "evidence": [ { "id": "Q9W3J5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9W3J5" } ] }, { "ec_number": "6.1.1.20", "activity": "", "evidence": [ { "id": "Q9W3J5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9W3J5" } ] } ] }, { "uniprot_ac": "Q9WUA2", "gene_name": "Farsb", "activity": [ { "ec_number": "6.1.1.20", "activity": "ATP + L-phenylalanine + tRNA(Phe) = AMP + diphosphate + H(+) + L-phenylalanyl-tRNA(Phe).", "evidence": [ { "id": "Q9WUA2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9WUA2" } ] }, { "ec_number": "6.1.1.20", "activity": "", "evidence": [ { "id": "Q9WUA2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9WUA2" } ] } ] }, { "uniprot_ac": "Q9Y285", "gene_name": "FARSA", "activity": [ { "ec_number": "6.1.1.20", "activity": "ATP + L-phenylalanine + tRNA(Phe) = AMP + diphosphate + H(+) + L-phenylalanyl-tRNA(Phe).", "evidence": [ { "id": "Q9Y285", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y285" } ] }, { "ec_number": "6.1.1.20", "activity": "", "evidence": [ { "id": "Q9Y285", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y285" } ] } ] } ], "biomarkers": [], 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