Showing entry for Probable asparagine--tRNA ligase, mitochondrial


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT019675
Protein NameProbable asparagine--tRNA ligase, mitochondrial
Uniport IdQ96I59
GeneNARS2
Gene Id79731
DomaintRNA-synt_2; tRNA_anti-codon
Pfam PF00152   PF01336  
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:0006421 asparaginyl-tRNA aminoacylation
molecular function GO:0004816 asparagine-tRNA ligase activity
molecular function GO:0005524 ATP binding
molecular function GO:0003676 nucleic acid binding
cellular component GO:0005829 cytosol
cellular component GO:0005759 mitochondrial matrix
cellular component GO:0005739 mitochondrion
cellular component GO:0005654 nucleoplasm
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
C0002395 BXGD000111 Alzheimer's Disease Nervous System Diseases; Mental Disorders
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0013884 BXGD000864 Filarial Elephantiases Infections; Hemic and Lymphatic Diseases
C0014544 BXGD000926 Epilepsy Nervous System Diseases
C0015469 BXGD000996 Facial paralysis Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
C0017639 BXGD001133 Gliosis Pathological Conditions, Signs and Symptoms
C0017654 BXGD001136 Glomerular Filtration Rate
C0017668 BXGD001143 Focal glomerulosclerosis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0023264 BXGD001625 Leigh Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
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
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
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0038220 BXGD002740 Status Epilepticus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0151888 BXGD003497 Hyporeflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0151889 BXGD003498 Hyperreflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0175754 BXGD004015 Agenesis of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0205710 BXGD004112 Alpers Syndrome (disorder) Immune System Diseases; Nervous System Diseases
C0220983 BXGD004350 Metabolic alkalosis Nutritional and Metabolic Diseases
C0221629 BXGD004467 Proximal muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0232466 BXGD004543 Feeding difficulties
C0234146 BXGD004626 Absent reflex Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0235946 BXGD004789 Cerebral atrophy Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0241005 BXGD005072 Creatine phosphokinase serum increased
C0344482 BXGD007678 Hypoplasia of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0452138 BXGD008831 Sensorineural hearing loss, bilateral Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0524851 BXGD009246 Neurodegenerative Disorders Nervous System Diseases
C0541794 BXGD009262 Skeletal muscle atrophy
C0557874 BXGD009444 Global developmental delay
C0740279 BXGD009973 Cerebellar atrophy
C1096063 BXGD011600 Drug Resistant Epilepsy Nervous System Diseases
C1167918 BXGD011779 Increased CSF lactate
C1384666 BXGD012948 hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1836440 BXGD014115 Increased serum lactate Nutritional and Metabolic Diseases
C1836797 BXGD014161 Combined Oxidative Phosphorylation Deficiency 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
C1836830 BXGD014165 Developmental regression Mental Disorders
C1838951 BXGD014347 LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1850496 BXGD015147 Neuronal loss in central nervous system
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
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C2931891 BXGD018091 Necrotizing encephalopathy, infantile subacute, of Leigh Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C3711374 BXGD019382 Nonsyndromic Deafness Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C3810365 BXGD019652 Central visual impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4015643 BXGD020217 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24
C4025616 BXGD021697 CNS hypomyelination
C4048268 BXGD021896 Cortical visual impairment Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C4551584 BXGD023362 Brain atrophy Nervous System Diseases
C4553743 BXGD023548 Spasticity, CTCAE
C4554036 BXGD023557 Nystagmus, CTCAE 5.0
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000458 L-Asparagine 132.12
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