Showing entry for Probable proline--tRNA ligase, mitochondrial


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT016994
Protein NameProbable proline--tRNA ligase, mitochondrial
Uniport IdQ7L3T8
GenePARS2
Gene Id25973
DomainHGTP_anticodon; tRNA-synt_2b
Pfam PF03129   PF00587  
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:0006433 prolyl-tRNA aminoacylation
molecular function GO:0005524 ATP binding
molecular function GO:0004827 proline-tRNA ligase activity
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
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0004352 BXGD000269 Autistic Disorder Mental Disorders
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0008055 BXGD000514 Chikungunya Fever Infections
C0009187 BXGD000591 Coccidiosis Infections
C0010278 BXGD000660 Craniosynostosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0013384 BXGD000826 Dyskinetic syndrome Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0014544 BXGD000926 Epilepsy Nervous System Diseases
C0015300 BXGD000973 Exophthalmos Eye Diseases
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0017168 BXGD001101 Gastroesophageal reflux disease Digestive System Diseases
C0020534 BXGD001421 Orbital separation excessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0020608 BXGD001443 Hypodontia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0021125 BXGD001483 Impulsive Behavior Behavior and Behavior Mechanisms
C0024530 BXGD001783 Malaria Infections
C0025958 BXGD001882 Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026837 BXGD001937 Muscle Rigidity Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0026838 BXGD001938 Muscle Spasticity Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0027066 BXGD001966 Myoclonus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
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
C0034935 BXGD002497 Babinski Reflex
C0035304 BXGD002528 Retinal Degeneration Eye Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0037769 BXGD002701 West Syndrome Nervous System Diseases
C0038220 BXGD002740 Status Epilepticus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0040822 BXGD002885 Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0085584 BXGD003195 Encephalopathies 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
C0205710 BXGD004112 Alpers Syndrome (disorder) Immune System Diseases; Nervous System Diseases
C0231686 BXGD004508 Gait, Unsteady Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0232466 BXGD004543 Feeding difficulties
C0234985 BXGD004708 Mental deterioration Mental Disorders
C0235659 BXGD004763 Reduced fetal movement Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
C0235946 BXGD004789 Cerebral atrophy Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0239676 BXGD004989 High forehead
C0240379 BXGD005033 Open mouth (finding)
C0275524 BXGD006376 Coinfection Infections
C0311394 BXGD006884 Difficulty walking Pathological Conditions, Signs and Symptoms
C0344482 BXGD007678 Hypoplasia of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0349588 BXGD007933 Short stature
C0410702 BXGD008447 Adolescent idiopathic scoliosis Musculoskeletal Diseases
C0423109 BXGD008470 Upward slant of palpebral fissure
C0423110 BXGD008471 Downward slant of palpebral fissure
C0454644 BXGD008850 Delayed speech and language development Behavior and Behavior Mechanisms
C0524851 BXGD009246 Neurodegenerative Disorders Nervous System Diseases
C0543888 BXGD009300 Epileptic encephalopathy Nervous System Diseases
C0554970 BXGD009428 Pallor of optic disc
C0557874 BXGD009444 Global developmental delay
C0684276 BXGD009793 Hypsarrhythmia Nervous System Diseases
C1263846 BXGD011897 Attention deficit hyperactivity disorder Mental Disorders
C1299919 BXGD012267 Enteric coccidiosis Digestive System Diseases; Infections
C1836038 BXGD014073 Poor head control Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1836830 BXGD014165 Developmental regression Mental Disorders
C1837461 BXGD014234 SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
C1838391 BXGD014313 Limb hypertonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1840077 BXGD014434 Anteverted nostril
C1842581 BXGD014525 Abnormal corpus callosum morphology Pathological Conditions, Signs and Symptoms
C1847514 BXGD014868 Postnatal microcephaly
C1849367 BXGD015046 Nasal bridge wide
C1853743 BXGD015358 Muscular hypotonia of the trunk Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1854114 BXGD015383 Short nose
C1854882 BXGD015439 Absent speech Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1857679 BXGD015735 Sloping forehead
C1857704 BXGD015741 Abnormal myelination
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1859236 BXGD015867 Prolonged neonatal jaundice Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C1861324 BXGD016029 Short philtrum
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C2674608 BXGD017250 Feeding difficulties in infancy
C2919142 BXGD017867 Short Stature, CTCAE
C3553450 BXGD019175 Profound global developmental delay
C3697248 BXGD019355 Short lower third of face
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3810365 BXGD019652 Central visual impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C3887898 BXGD019926 Infantile Spasm Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4023687 BXGD021243 EEG with multifocal slow activity
C4024965 BXGD021506 Frontal cortical atrophy
C4025616 BXGD021697 CNS hypomyelination
C4025846 BXGD021826 Abnormality of vision
C4048268 BXGD021896 Cortical visual impairment Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C4324406 BXGD022765 Cerebral volume loss
C4553743 BXGD023548 Spasticity, CTCAE
C4554036 BXGD023557 Nystagmus, CTCAE 5.0
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000288 L-Proline 115.13
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