Showing entry for Probable cysteine--tRNA ligase, mitochondrial


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT020504
Protein NameProbable cysteine--tRNA ligase, mitochondrial
Uniport IdQ9HA77
GeneCARS2
Gene Id79587
DomaintRNA-synt_1e
Pfam PF01406  
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:0006423 cysteinyl-tRNA aminoacylation
molecular function GO:0005524 ATP binding
molecular function GO:0004817 cysteine-tRNA ligase activity
molecular function GO:0046872 metal ion binding
cellular component GO:0005737 cytoplasm
cellular component GO:0005759 mitochondrial matrix
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
C0004352 BXGD000269 Autistic Disorder Mental Disorders
C0008489 BXGD000546 Chorea Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0011168 BXGD000700 Deglutition Disorders Digestive System Diseases; Otorhinolaryngologic Diseases
C0013421 BXGD000837 Dystonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0026650 BXGD001913 Movement Disorders Nervous System Diseases
C0027066 BXGD001966 Myoclonus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0030193 BXGD002191 Pain Pathological Conditions, Signs and Symptoms
C0038220 BXGD002740 Status Epilepticus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0151818 BXGD003480 Opisthotonus Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0162672 BXGD003972 MERRF Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0206180 BXGD004170 Ki-1+ Anaplastic Large Cell Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic 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
C0266470 BXGD005678 Cerebellar Hypoplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
C0270790 BXGD006105 Quadriparesis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0344482 BXGD007678 Hypoplasia of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
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
C0543888 BXGD009300 Epileptic encephalopathy Nervous System Diseases
C0557874 BXGD009444 Global developmental delay
C0598275 BXGD009664 Diffuse cerebral atrophy Nervous System Diseases; Mental Disorders
C0751778 BXGD010587 Myoclonic Epilepsies, Progressive Nervous System Diseases
C0751785 BXGD010594 Unverricht-Lundborg Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0856975 BXGD011127 Autistic behavior Behavior and Behavior Mechanisms
C1384666 BXGD012948 hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1510586 BXGD013176 Autism Spectrum Disorders Mental Disorders
C1836440 BXGD014115 Increased serum lactate Nutritional and Metabolic Diseases
C1836830 BXGD014165 Developmental regression Mental Disorders
C1839364 BXGD014371 Progressive visual loss
C1839630 BXGD014391 Severe muscular hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1847514 BXGD014868 Postnatal microcephaly
C1850415 BXGD015142 Microvesicular hepatic steatosis Digestive System Diseases
C1854699 BXGD015425 Diffuse cerebellar atrophy
C1854882 BXGD015439 Absent speech Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1867138 BXGD016442 Upper limb postural tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C2677650 BXGD017382 Decreased activity of mitochondrial complex I
C3149083 BXGD018274 Decreased activity of mitochondrial complex III
C3266262 BXGD018600 Multiple Chronic Conditions Pathological Conditions, Signs and Symptoms
C3275417 BXGD018663 Ragged-red muscle fibers
C3281034 BXGD018877 Multifocal seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C3665347 BXGD019279 Visual Impairment Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C4020800 BXGD020481 Decreased activity of mitochondrial complex IV
C4021215 BXGD020579 EEG with periodic lateralized epileptiform discharges
C4021219 BXGD020582 Multifocal epileptiform discharges
C4021759 BXGD020762 Generalized myoclonic seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4225251 BXGD022191 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27
C4476822 BXGD022876 Hypoplastic hippocampus
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0006271 L-Cysteine 121.16
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