Showing entry for Phenylalanine--tRNA ligase, mitochondrial


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT005375
Protein NamePhenylalanine--tRNA ligase, mitochondrial
Uniport IdO95363
GeneFARS2
Gene Id10667
DomainFDX-ACB; tRNA-synt_2d
Pfam PF03147   PF01409  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
2. Genetic Information Processing 2.2 Translation hsa00970 Aminoacyl-tRNA biosynthesis
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0006432 phenylalanyl-tRNA aminoacylation
Biological Process GO:0006418 tRNA aminoacylation for protein translation
Biological Process GO:0008033 tRNA processing
molecular function GO:0005524 ATP binding
molecular function GO:0004826 phenylalanine-tRNA ligase activity
molecular function GO:0000049 tRNA binding
cellular component GO:0005737 cytoplasm
cellular component GO:0005759 mitochondrial matrix
cellular component GO:0005739 mitochondrion
Reactome
Pathway Id Pathway Name
R-HSA-379724 tRNA Aminoacylation
R-HSA-379726 Mitochondrial tRNA aminoacylation
R-HSA-392499 Metabolism of proteins
R-HSA-72766 Translation
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0001125 BXGD000024 Acidosis, Lactic Nutritional and Metabolic Diseases
C0005697 BXGD000324 Neurogenic Urinary Bladder Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0009081 BXGD000581 Congenital clubfoot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0013362 BXGD000817 Dysarthria Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0014544 BXGD000926 Epilepsy Nervous System Diseases
C0017612 BXGD001129 Glaucoma, Open-Angle Eye Diseases
C0017639 BXGD001133 Gliosis Pathological Conditions, Signs and Symptoms
C0023264 BXGD001625 Leigh Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0023467 BXGD001658 Leukemia, Myelocytic, Acute Neoplasms
C0025958 BXGD001882 Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0027066 BXGD001966 Myoclonus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0028754 BXGD002082 Obesity Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0034152 BXGD002467 Henoch-Schoenlein Purpura Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0034935 BXGD002497 Babinski Reflex
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0037769 BXGD002701 West Syndrome Nervous System Diseases
C0037772 BXGD002703 Spastic Paraplegia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous System Diseases
C0040822 BXGD002885 Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0042024 BXGD002949 Urinary Incontinence Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0085584 BXGD003195 Encephalopathies Nervous System Diseases
C0151611 BXGD003447 Electroencephalogram abnormal Nervous System Diseases
C0151889 BXGD003498 Hyperreflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0162666 BXGD003967 Mitochondrial Encephalomyopathies Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0205710 BXGD004112 Alpers Syndrome (disorder) Immune System Diseases; Nervous System Diseases
C0231698 BXGD004517 Gait, Scissors Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0232466 BXGD004543 Feeding difficulties
C0233565 BXGD004590 Bradykinesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234376 BXGD004659 Action Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0235946 BXGD004789 Cerebral atrophy Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0239043 BXGD004960 Difficulty chewing
C0268237 BXGD005861 Cytochrome-c Oxidase Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0341747 BXGD007421 Detrusor and sphincter dyssynergia
C0345392 BXGD007732 Congenital kyphoscoliosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0393588 BXGD008100 Dystonia, Paroxysmal Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0427460 BXGD008616 Red cell distribution width determination
C0431663 BXGD008700 Bilateral Cryptorchidism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
C0456070 BXGD008863 Growth delay
C0524851 BXGD009246 Neurodegenerative Disorders Nervous System Diseases
C0543888 BXGD009300 Epileptic encephalopathy Nervous System Diseases
C0557874 BXGD009444 Global developmental delay
C0575158 BXGD009515 Kyphoscoliosis deformity of spine Musculoskeletal Diseases
C0598275 BXGD009664 Diffuse cerebral atrophy Nervous System Diseases; Mental Disorders
C0600033 BXGD009682 Acquired Kyphoscoliosis Musculoskeletal Diseases
C0740279 BXGD009973 Cerebellar atrophy
C0751495 BXGD010473 Seizures, Focal Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0751651 BXGD010539 Mitochondrial Diseases Nutritional and Metabolic Diseases
C0917801 BXGD011412 Sleeplessness Nervous System Diseases; Mental Disorders
C0949857 BXGD011589 Mitochondrial Respiratory Chain Deficiencies Nutritional and Metabolic Diseases
C1096063 BXGD011600 Drug Resistant Epilepsy Nervous System Diseases
C1304746 BXGD012343 RDW - Red blood cell distribution width result
C1328407 BXGD012465 Hip Dysplasia Musculoskeletal Diseases; Wounds and Injuries
C1531647 BXGD013301 Cerebral ventriculomegaly Nervous System Diseases
C1835095 BXGD014011 Macrodontia of permanent maxillary central incisor
C1836038 BXGD014073 Poor head control Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1836440 BXGD014115 Increased serum lactate Nutritional and Metabolic Diseases
C1836696 BXGD014151 Lower limb hyperreflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1836830 BXGD014165 Developmental regression Mental Disorders
C1836843 BXGD014168 Progressive inability to walk
C1838951 BXGD014347 LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1850597 BXGD015155 Leigh Syndrome Due To Mitochondrial Complex II Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1850598 BXGD015156 Leigh Syndrome due to Mitochondrial Complex III Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1850599 BXGD015157 Leigh Syndrome due to Mitochondrial Complex IV Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1850600 BXGD015158 Leigh Syndrome due to Mitochondrial Complex V Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1852373 BXGD015276 Mitochondrial encephalopathy Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C1853743 BXGD015358 Muscular hypotonia of the trunk Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1854494 BXGD015409 Slow progression
C1854882 BXGD015439 Absent speech Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1855483 BXGD015501 Progressive spastic paraplegia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1858430 BXGD015792 Death in infancy
C1861403 BXGD016045 Variable expressivity
C2674608 BXGD017250 Feeding difficulties in infancy
C2931356 BXGD018007 Spastic paraplegia type 5A, recessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C2931891 BXGD018091 Necrotizing encephalopathy, infantile subacute, of Leigh Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C3278923 BXGD018748 Dilated ventricles (finding)
C3494422 BXGD018966 Retrognathia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C3553450 BXGD019175 Profound global developmental delay
C3554168 BXGD019202 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
C3887898 BXGD019926 Infantile Spasm Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4024900 BXGD021463 Atrophy/Degeneration affecting the brainstem
C4024921 BXGD021475 Lower limb amyotrophy
C4025566 BXGD021666 Muscle abnormality related to mitochondrial dysfunction
C4025671 BXGD021722 Sudden episodic apnea Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C4025729 BXGD021761 Neuromuscular dysphagia Digestive System Diseases; Otorhinolaryngologic Diseases
C4310750 BXGD022649 SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE
C4551566 BXGD023354 Equinovarus deformity of foot Musculoskeletal Diseases
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000286 L-DOPA 197.19
BXGC0002588 Magnesium 24.31
BXGC0003214 L-(-)-Phenylalanine 165.19
BXGC0040685 L-m-Tyrosine 181.07
The  target protein-related  foods
Foods
BXGF Id Food Name Scientific Name Food Group Number of compound? Number of compound in food, higher numbers indicate the food are more associated with the protein