Showing entry for Probable glutamate--tRNA ligase, mitochondrial


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT015456
Protein NameProbable glutamate--tRNA ligase, mitochondrial
Uniport IdQ5JPH6
GeneEARS2
Gene Id124454
DomaintRNA-synt_1c
Pfam PF00749  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
1. Metabolism 1.8 Metabolism of cofactors and vitamins hsa00860 Porphyrin and chlorophyll metabolism
2. Genetic Information Processing 2.2 Translation hsa00970 Aminoacyl-tRNA biosynthesis
1. Metabolism 1.0 Global and overview maps hsa01100 Metabolic pathways
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0006424 glutamyl-tRNA aminoacylation
Biological Process GO:0070127 tRNA aminoacylation for mitochondrial protein translation
molecular function GO:0005524 ATP binding
molecular function GO:0050561 glutamate-tRNA(Gln) ligase activity
molecular function GO:0004818 glutamate-tRNA ligase activity
molecular function GO:0000049 tRNA binding
molecular function GO:0008270 zinc ion binding
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
C0003850 BXGD000225 Arteriosclerosis Cardiovascular Diseases
C0004153 BXGD000260 Atherosclerosis Cardiovascular Diseases
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0009324 BXGD000597 Ulcerative Colitis Digestive System Diseases
C0010054 BXGD000647 Coronary Arteriosclerosis Cardiovascular Diseases
C0010068 BXGD000648 Coronary heart disease Cardiovascular Diseases
C0013421 BXGD000837 Dystonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0014544 BXGD000926 Epilepsy Nervous System Diseases
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0018213 BXGD001187 Graves Disease Eye Diseases; Immune System Diseases; Endocrine System Diseases
C0024141 BXGD001740 Lupus Erythematosus, Systemic Skin and Connective Tissue Diseases; Immune System Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0027051 BXGD001963 Myocardial Infarction Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0029089 BXGD002107 Ophthalmoplegia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0036572 BXGD002625 Seizures 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
C0233565 BXGD004590 Bradykinesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0235081 BXGD004720 Tremor, Limb Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0240635 BXGD005047 Byzanthine arch palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
C0270612 BXGD006081 Leukoencephalopathy Nervous System Diseases
C0342158 BXGD007437 Hypothyroidism, Autoimmune Immune System Diseases; Endocrine System Diseases
C0344482 BXGD007678 Hypoplasia of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0424503 BXGD008532 Dysmorphic facies
C0431369 BXGD008674 Dysgenesis of corpus callosum
C0494475 BXGD009030 Tonic - clonic seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0557874 BXGD009444 Global developmental delay
C0575059 BXGD009510 Spastic tetraparesis Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0677607 BXGD009721 Hashimoto Disease Endocrine System Diseases
C0857379 BXGD011148 Abnormality of the pinna
C1269683 BXGD012001 Major Depressive Disorder Mental Disorders
C1611743 BXGD013456 Familial (FPAH)
C1836440 BXGD014115 Increased serum lactate Nutritional and Metabolic Diseases
C1836830 BXGD014165 Developmental regression Mental Disorders
C1837260 BXGD014214 Prominent forehead
C1854301 BXGD015391 Motor delay Mental Disorders
C1854882 BXGD015439 Absent speech Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1956346 BXGD016627 Coronary Artery Disease Cardiovascular Diseases
C2267233 BXGD017017 Neonatal Hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C2677650 BXGD017382 Decreased activity of mitochondrial complex I
C3149083 BXGD018274 Decreased activity of mitochondrial complex III
C3179455 BXGD018552 Niemann-Pick Disease, Type C1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
C3275417 BXGD018663 Ragged-red muscle fibers
C3554079 BXGD019199 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
C3665347 BXGD019279 Visual Impairment Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C4020800 BXGD020481 Decreased activity of mitochondrial complex IV
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0006162 L-Glutamic acid 147.13
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