Showing entry for Alanine--tRNA ligase, mitochondrial


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT015458
Protein NameAlanine--tRNA ligase, mitochondrial
Uniport IdQ5JTZ9
GeneAARS2
Gene Id57505
DomaintRNA-synt_2c; tRNA_SAD
Pfam PF01411   PF07973  
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:0006419 alanyl-tRNA aminoacylation
Biological Process GO:0070143 mitochondrial alanyl-tRNA aminoacylation
Biological Process GO:0006400 tRNA modification
molecular function GO:0004813 alanine-tRNA ligase activity
molecular function GO:0016597 amino acid binding
molecular function GO:0002161 aminoacyl-tRNA editing activity
molecular function GO:0005524 ATP binding
molecular function GO:0000049 tRNA binding
molecular function GO:0008270 zinc ion binding
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
C0000772 BXGD000009 Multiple congenital anomalies Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0001125 BXGD000024 Acidosis, Lactic Nutritional and Metabolic Diseases
C0003635 BXGD000214 Apraxias Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0007194 BXGD000452 Hypertrophic Cardiomyopathy Cardiovascular Diseases
C0007758 BXGD000475 Cerebellar Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0007959 BXGD000507 Charcot-Marie-Tooth Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0011581 BXGD000733 Depressive disorder Mental Disorders
C0013362 BXGD000817 Dysarthria Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0013421 BXGD000837 Dystonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0020224 BXGD001366 Polyhydramnios Female Urogenital Diseases and Pregnancy Complications
C0023520 BXGD001678 Leukodystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0023529 BXGD001682 Leukomalacia, Periventricular Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
C0025322 BXGD001863 Premature Menopause Female Urogenital Diseases and Pregnancy Complications
C0025958 BXGD001882 Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0026838 BXGD001938 Muscle Spasticity Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0026848 BXGD001941 Myopathy Musculoskeletal Diseases; Nervous System Diseases
C0027121 BXGD001973 Myositis Musculoskeletal Diseases; Nervous System Diseases
C0027746 BXGD002032 Nerve Degeneration Pathological Conditions, Signs and Symptoms
C0028738 BXGD002081 Nystagmus Eye Diseases; Nervous System Diseases
C0029124 BXGD002113 Optic Atrophy Eye Diseases; Nervous System Diseases
C0031039 BXGD002274 Pericardial effusion Cardiovascular Diseases
C0032227 BXGD002336 Pleural effusion disorder Respiratory Tract Diseases
C0035309 BXGD002530 Retinal Diseases Eye Diseases
C0040822 BXGD002885 Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0042798 BXGD003003 Low Vision Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0085215 BXGD003141 Ovarian Failure, Premature Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0085584 BXGD003195 Encephalopathies Nervous System Diseases
C0151611 BXGD003447 Electroencephalogram abnormal Nervous System Diseases
C0162666 BXGD003967 Mitochondrial Encephalomyopathies Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0234985 BXGD004708 Mental deterioration Mental Disorders
C0235025 BXGD004713 Peripheral motor neuropathy Nervous System Diseases
C0265783 BXGD005575 Congenital hypoplasia of lung Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
C0268233 BXGD005860 GALACTOSIALIDOSIS Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0270612 BXGD006081 Leukoencephalopathy Nervous System Diseases
C0338451 BXGD007176 Frontotemporal dementia Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0432072 BXGD008718 Dysmorphic features
C0455988 BXGD008860 Hydrops Fetalis, Non-Immune Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
C0497327 BXGD009061 Dementia Nervous System Diseases; Mental Disorders
C0542223 BXGD009274 Loss of speech Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0543888 BXGD009300 Epileptic encephalopathy Nervous System Diseases
C0740279 BXGD009973 Cerebellar atrophy
C0746674 BXGD010147 Generalized muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0747102 BXGD010159 Ovarian failure Endocrine System Diseases
C0878544 BXGD011368 Cardiomyopathies Cardiovascular Diseases
C0949857 BXGD011589 Mitochondrial Respiratory Chain Deficiencies Nutritional and Metabolic Diseases
C1397307 BXGD012996 Cardiac fibrosis
C1836440 BXGD014115 Increased serum lactate Nutritional and Metabolic Diseases
C1840372 BXGD014455 Mixed respiratory and metabolic acidosis Nutritional and Metabolic Diseases
C1847967 BXGD014898 OVARIOLEUKODYSTROPHY Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Endocrine System Diseases
C1854776 BXGD015430 Infantile cardiomyopathy
C1855010 BXGD015450 Progressive leukoencephalopathy Nervous System Diseases
C1858430 BXGD015792 Death in infancy
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C3279793 BXGD018780 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
C3532239 BXGD019055 Mitochondrial cardiomyopathy
C3711381 BXGD019387 Hereditary Diffuse Leukoencephalopathy with Spheroids Nervous System Diseases
C4014588 BXGD020153 LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
C4540031 BXGD023237 Combined oxidative phosphorylation deficiency
C4552811 BXGD023526 Generalized Muscle Weakness, CTCAE
C4553743 BXGD023548 Spasticity, CTCAE
C4554036 BXGD023557 Nystagmus, CTCAE 5.0
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000279 L-Alanine 89.09
BXGC0002586 Calcium 40.08
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