General Information of Drug-Metabolizing Enzyme (DME) (ID: DE0WGR8)

DME Name Phenylalanine--tRNA ligase mitochondrial (FARS2)
Synonyms Phenylalanyl-tRNA synthetase; Mitochondrial phenylalanine--tRNA ligase; FARS1; FARS2; HSPC320; PheRS
Gene Name FARS2
UniProt ID
SYFM_HUMAN
INTEDE ID
DME0491
3D Structure
Download
2D Sequence (FASTA)
Download
3D Structure (PDB)
Download
Gene ID
10667
EC Number EC: 6.1.1.20
Ligase
Carbon-oxygen ligase
Aminoacyl tRNA synthetase
EC: 6.1.1.20
Lineage Species: Homo sapiens
Kingdom: Metazoa
Phylum: Chordata
Class: Mammalia
Order: Primates
Family: Hominidae
Genus: Homo
Species: Homo sapiens
Sequence
MVGSALRRGAHAYVYLVSKASHISRGHQHQAWGSRPPAAECATQRAPGSVVELLGKSYPQ
DDHSNLTRKVLTRVGRNLHNQQHHPLWLIKERVKEHFYKQYVGRFGTPLFSVYDNLSPVV
TTWQNFDSLLIPADHPSRKKGDNYYLNRTHMLRAHTSAHQWDLLHAGLDAFLVVGDVYRR
DQIDSQHYPIFHQLEAVRLFSKHELFAGIKDGESLQLFEQSSRSAHKQETHTMEAVKLVE
FDLKQTLTRLMAHLFGDELEIRWVDCYFPFTHPSFEMEINFHGEWLEVLGCGVMEQQLVN
SAGAQDRIGWAFGLGLERLAMILYDIPDIRLFWCEDERFLKQFCVSNINQKVKFQPLSKY
PAVINDISFWLPSENYAENDFYDLVRTIGGDLVEKVDLIDKFVHPKTHKTSHCYRITYRH
MERTLSQREVRHIHQALQEAAVQLLGVEGRF
Function
This enzyme is responsible for the charging of tRNA(Phe) with phenylalanine in mitochondrial translation. To a lesser extent, it 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.
KEGG Pathway
Aminoacyl-tRNA biosynthesis (hsa00970 )
Reactome Pathway
Mitochondrial tRNA aminoacylation (R-HSA-379726 )

Molecular Interaction Atlas (MIA) of This DME

Molecular Interaction Atlas (MIA) Jump to Detail Molecular Interaction Atlas of This DME
1 Approved Drug(s) Metabolized by This DME
Drug Name Drug ID Indication ICD 11 Highest Status REF
L-Phenylalanine DMQXI9F Malnutrition 5B50-5B71 Approved [1]
Experimental Enzyme Kinetic Data of Drugs
Drug Name Indication Highest Status Kinetic Data REF
L-Phenylalanine Malnutrition [5B50-5B71] Approved Km = 0.033 microM [1]

Molecular Expression Atlas (MEA) of This DME

Molecular Expression Atlas (MEA) Jump to Detail Molecular Expression Atlas of This DME
Disease Name ICD 11 Studied Tissue p-value Fold-Change Z-score
Acute myelocytic leukaemia 2B33.1 Bone marrow 5.87E-01 1.16E-01 3.19E-01
Alopecia ED70 Skin from scalp 4.76E-01 5.54E-03 1.34E-02
Alzheimer's disease 8A20 Entorhinal cortex 2.75E-05 -1.85E-01 -5.40E-01
Ankylosing spondylitis FA92.0 Pheripheral blood 7.01E-02 1.01E-01 8.93E-01
Aortic stenosis BB70 Calcified aortic valve 4.75E-01 -2.07E-01 -2.56E-01
Apnea 7A40 Hyperplastic tonsil 5.01E-01 -2.56E-01 -3.47E-01
Arthropathy FA00-FA5Z Peripheral blood 4.49E-02 -2.51E-01 -1.35E+00
Asthma CA23 Nasal and bronchial airway 1.61E-02 1.66E-01 2.25E-01
Atopic dermatitis EA80 Skin 3.32E-01 6.93E-02 2.04E-01
Autism 6A02 Whole blood 1.40E-03 -2.84E-01 -1.01E+00
Autoimmune uveitis 9A96 Peripheral monocyte 3.09E-01 -1.04E-01 -5.84E-01
Autosomal dominant monocytopenia 4B04 Whole blood 7.30E-01 -5.87E-02 -3.04E-01
Bacterial infection of gingival 1C1H Gingival tissue 2.78E-01 -7.48E-02 -2.67E-01
Batten disease 5C56.1 Whole blood 5.55E-01 -1.87E-01 -1.36E+00
Behcet's disease 4A62 Peripheral blood 6.18E-01 -1.31E-01 -6.96E-01
Bipolar disorder 6A60-6A6Z Prefrontal cortex 4.42E-01 2.40E-02 6.26E-02
Bladder cancer 2C94 Bladder tissue 1.45E-07 -5.13E-01 -3.57E+00
Breast cancer 2C60-2C6Z Breast tissue 2.87E-04 1.87E-01 3.19E-01
Cardioembolic stroke 8B11.20 Whole blood 9.89E-01 -4.57E-02 -1.79E-01
Cervical cancer 2C77 Cervical tissue 5.62E-01 -1.74E-01 -3.76E-01
Childhood onset rheumatic disease FA20.Z Peripheral blood 8.31E-01 -1.51E-01 -1.31E-01
Chronic hepatitis C 1E51.1 Whole blood 2.96E-01 -1.06E-01 -6.11E-01
Chronic obstructive pulmonary disease CA22 Lung tissue 3.88E-01 -5.49E-02 -2.11E-01
Chronic obstructive pulmonary disease CA22 Small airway epithelium 2.78E-02 1.16E-01 4.79E-01
Chronic rhinosinusitis CA0A Sinus mucosa tissue 3.00E-02 -5.67E-01 -1.15E+00
Colon cancer 2B90 Colon tissue 2.64E-02 7.49E-02 2.42E-01
Coronary artery disease BA80-BA8Z Peripheral blood 6.94E-01 5.42E-02 9.42E-02
Diffuse large B-cell lymphoma 2A81 Tonsil tissue 6.27E-01 8.42E-02 1.55E-01
Endometriosis GA10 Endometrium tissue 3.45E-01 -2.35E-01 -3.90E-01
Familial hypercholesterolemia 5C80.00 Peripheral blood 6.45E-02 1.43E-01 9.28E-01
Familial hypercholesterolemia 5C80.00 Whole blood 1.94E-04 9.01E-01 1.70E+00
Gastric cancer 2B72 Gastric tissue 4.27E-01 3.67E-01 4.16E-01
Glioblastopma 2A00.00 Nervous tissue 1.46E-87 7.36E-01 1.25E+00
Glioma 2A00.0Y-2A00.0Z Brain stem tissue 4.74E-01 5.17E-01 6.50E-01
Glioma 2A00.0Y-2A00.0Z White matter tissue 1.87E-04 1.03E+00 1.88E+00
Head and neck cancer 2D42 Head and neck tissue 3.13E-01 2.52E-02 4.79E-02
HIV-associated neurocognitive impairment 8A2Y-8A2Z White matter tissue 5.72E-01 -1.37E-01 -4.68E-01
Huntington's disease 8A01.10 Whole blood 9.45E-01 1.83E-01 4.26E-01
Idiopathic pulmonary fibrosis CB03.4 Lung tissue 2.11E-01 1.89E-01 1.09E+00
Immunodeficiency 4A00-4A20 Peripheral blood 1.13E-03 2.58E-01 2.07E+00
Influenza 1E30 Whole blood 7.69E-02 -8.03E-01 -1.98E+00
Interstitial cystitis GC00.3 Bladder tissue 2.22E-02 8.23E-02 1.47E+00
Intracranial aneurysm 8B01.0 Intracranial artery 8.70E-01 -9.29E-02 -4.02E-01
Irritable bowel syndrome DD91.0 Rectal colon tissue 5.08E-02 -1.15E-01 -2.16E-01
Ischemic stroke 8B11 Peripheral blood 5.09E-01 5.91E-02 3.12E-01
Juvenile idiopathic arthritis FA24 Peripheral blood 4.74E-10 -5.08E-01 -1.12E+00
Lateral sclerosis 8B60.4 Skin 1.81E-02 3.68E-01 2.40E+00
Lateral sclerosis 8B60.4 Cervical spinal cord 5.32E-01 -4.99E-02 -1.57E-01
Liver cancer 2C12.0 Liver tissue 6.35E-01 5.67E-02 2.09E-01
Liver failure DB99.7-DB99.8 Liver tissue 9.18E-02 -3.56E-01 -1.07E+00
Lung cancer 2C25 Lung tissue 2.10E-03 -6.62E-02 -1.91E-01
Lupus erythematosus 4A40 Whole blood 2.27E-01 5.69E-02 1.04E-01
Major depressive disorder 6A70-6A7Z Hippocampus 6.32E-01 -3.69E-02 -1.18E-01
Major depressive disorder 6A70-6A7Z Whole blood 8.22E-02 -8.23E-02 -1.86E-01
Melanoma 2C30 Skin 6.01E-02 2.20E-01 4.30E-01
Multiple myeloma 2A83.1 Peripheral blood 3.11E-01 -8.43E-02 -4.15E-01
Multiple myeloma 2A83.1 Bone marrow 1.61E-04 5.48E-01 1.80E+00
Multiple sclerosis 8A40 Plasmacytoid dendritic cells 6.57E-01 2.35E-02 7.78E-02
Myelodysplastic syndrome 2A36-2A3Z Bone marrow 4.62E-02 -2.11E-01 -3.63E-01
Myelofibrosis 2A20.2 Whole blood 5.72E-02 -2.35E-01 -1.92E+00
Myocardial infarction BA41-BA50 Peripheral blood 9.82E-04 -5.87E-01 -6.69E-01
Myopathy 8C70.6 Muscle tissue 8.86E-03 -1.77E-01 -9.47E-01
Neonatal sepsis KA60 Whole blood 3.69E-15 -6.04E-01 -1.60E+00
Neuroectodermal tumour 2A00.11 Brain stem tissue 1.72E-06 2.17E+00 3.76E+00
Non-alcoholic fatty liver disease DB92 Liver tissue 4.22E-02 1.88E-01 1.03E+00
Obesity related type 2 diabetes 5A11 Omental adipose tissue 1.74E-01 -8.23E-02 -3.27E-01
Olive pollen allergy CA08.00 Peripheral blood 7.24E-01 4.72E-02 6.12E-02
Oral cancer 2B6E Oral tissue 4.46E-05 9.69E-01 1.14E+00
Osteoarthritis FA00-FA0Z Synovial tissue 5.58E-01 5.36E-02 6.57E-02
Osteoporosis FB83.1 Bone marrow 3.94E-03 -3.90E-01 -1.92E+00
Ovarian cancer 2C73 Ovarian tissue 2.77E-03 9.09E-01 1.44E+00
Pancreatic cancer 2C10 Pancreas 1.17E-01 1.92E-01 7.20E-01
Parkinson's disease 8A00.0 Substantia nigra tissue 1.42E-01 -4.02E-01 -8.90E-01
Pediatric respiratory syncytial virus infection CA40.11 Peripheral blood 1.35E-01 -1.28E-01 -8.24E-01
Pituitary cancer 2D12 Pituitary tissue 2.17E-02 4.91E-01 8.01E-01
Pituitary gonadotrope tumour 2D12 Pituitary tissue 1.48E-01 3.53E-01 8.77E-01
Polycystic ovary syndrome 5A80.1 Vastus lateralis muscle 3.94E-01 1.13E-01 4.10E-01
Polycythemia vera 2A20.4 Whole blood 6.40E-15 -3.54E-01 -2.60E+00
Pompe disease 5C51.3 Biceps muscle 5.92E-01 -1.65E-01 -4.39E-01
Preterm birth KA21.4Z Myometrium 3.24E-01 2.07E-01 1.21E+00
Prostate cancer 2C82 Prostate 5.22E-01 1.88E-01 2.22E-01
Psoriasis EA90 Skin 2.72E-02 -7.32E-02 -2.22E-01
Rectal cancer 2B92 Rectal colon tissue 2.04E-01 -1.93E-02 -1.82E-01
Renal cancer 2C90-2C91 Kidney 4.10E-02 1.27E-01 1.52E-01
Retinoblastoma 2D02.2 Uvea 1.47E-01 3.12E-01 1.30E+00
Rheumatoid arthritis FA20 Synovial tissue 2.60E-02 8.83E-01 1.45E+00
Rhinovirus infection CA42.1 Nasal epithelium tissue 8.52E-01 3.29E-02 9.73E-02
Schizophrenia 6A20 Prefrontal cortex 5.95E-01 -1.62E-02 -2.63E-02
Schizophrenia 6A20 Superior temporal cortex 8.21E-01 -8.13E-03 -3.87E-02
Scleroderma 4A42.Z Whole blood 4.57E-02 -1.59E-01 -1.15E+00
Seizure 8A60-8A6Z Whole blood 6.48E-01 8.37E-02 2.96E-01
Sensitive skin EK0Z Skin 6.47E-01 -1.47E-02 -6.97E-02
Sepsis with septic shock 1G41 Whole blood 1.88E-53 -7.56E-01 -2.06E+00
Shwachman-Diamond syndrome 3A70.0 Bone marrow 3.41E-01 -3.86E-01 -9.69E-01
Sickle cell disease 3A51.0-3A51.3 Peripheral blood 1.13E-02 1.14E+00 1.87E+00
Simpson golabi behmel syndrome LD2C Adipose tissue 8.05E-01 5.10E-02 1.80E-01
Sjogren's syndrome 4A43.2 Salivary gland tissue 3.86E-01 -1.49E-01 -8.53E-01
Skin cancer 2C30-2C3Z Skin 9.13E-01 1.64E-02 4.31E-02
Thrombocythemia 3B63 Whole blood 2.64E-04 -2.10E-01 -1.70E+00
Thrombocytopenia 3B64 Whole blood 7.02E-01 3.48E-01 3.72E-01
Thyroid cancer 2D10 Thyroid 6.07E-20 -3.79E-01 -1.75E+00
Tibial muscular dystrophy 8C75 Muscle tissue 2.73E-02 -2.43E-01 -7.43E-01
Tuberous sclerosis complex LD2D.2 Perituberal tissue 2.29E-03 -4.57E-01 -3.39E+00
Type 2 diabetes 5A11 Liver tissue 3.25E-01 8.70E-02 7.77E-01
Ureter cancer 2C92 Urothelium 7.41E-01 2.34E-02 1.19E-01
Uterine cancer 2C78 Endometrium tissue 4.54E-01 -2.29E-02 -4.18E-02
Vitiligo ED63.0 Skin 9.23E-03 -1.53E-01 -7.66E-01
------------------------------------------------------------------------------------
⏷ Show the Full List of DME Expression Under 107 Diseases

References

1 Expression and characterization of a human mitochondrial phenylalanyl-tRNA synthetase. J Mol Biol. 1999 May 14;288(4):567-77.