Showing entry for Isoleucine--tRNA ligase, mitochondrial


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT021207
Protein NameIsoleucine--tRNA ligase, mitochondrial
Uniport IdQ9NSE4
GeneIARS2
Gene Id55699
DomainAnticodon_1; tRNA-synt_1; zf-FPG_IleRS
Pfam PF08264   PF00133   PF06827  
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:0006428 isoleucyl-tRNA aminoacylation
Biological Process GO:0032543 mitochondrial translation
Biological Process GO:0006418 tRNA aminoacylation for protein translation
molecular function GO:0002161 aminoacyl-tRNA editing activity
molecular function GO:0005524 ATP binding
molecular function GO:0004822 isoleucine-tRNA ligase activity
molecular function GO:0000049 tRNA binding
cellular component GO:0005829 cytosol
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
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007102 BXGD000425 Malignant tumor of colon Digestive System Diseases; Neoplasms
C0007131 BXGD000441 Non-Small Cell Lung Carcinoma Neoplasms; Respiratory Tract Diseases
C0007194 BXGD000452 Hypertrophic Cardiomyopathy Cardiovascular Diseases
C0010093 BXGD000652 Corpus Luteum Cyst Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0014848 BXGD000955 Esophageal Achalasia Digestive System Diseases
C0014877 BXGD000967 Esotropia Eye Diseases; Nervous System Diseases
C0016202 BXGD001050 Flatfoot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0018784 BXGD001220 Sensorineural Hearing Loss (disorder) Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0019569 BXGD001337 Hirschsprung Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C0022575 BXGD001555 Keratoconjunctivitis Sicca Eye Diseases
C0023264 BXGD001625 Leigh Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0023467 BXGD001658 Leukemia, Myelocytic, Acute Neoplasms
C0024003 BXGD001726 Lordosis Musculoskeletal Diseases
C0024121 BXGD001735 Lung Neoplasms Neoplasms; Respiratory Tract Diseases
C0024623 BXGD001791 Malignant neoplasm of stomach Digestive System Diseases; Neoplasms
C0026034 BXGD001887 Microstomia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0027651 BXGD002009 Neoplasms Neoplasms
C0027765 BXGD002033 nervous system disorder Nervous System Diseases
C0028738 BXGD002081 Nystagmus Eye Diseases; Nervous System Diseases
C0029422 BXGD002142 Osteochondrodysplasias Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0029453 BXGD002154 Osteopenia Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0029927 BXGD002182 Ovarian Cysts Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0031117 BXGD002285 Peripheral Neuropathy Nervous System Diseases
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0037769 BXGD002701 West Syndrome Nervous System Diseases
C0038015 BXGD002726 Spondyloepiphyseal Dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0086543 BXGD003294 Cataract Eye Diseases
C0151313 BXGD003413 Sensory neuropathy Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0151888 BXGD003497 Hyporeflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0162871 BXGD003996 Aortic Aneurysm, Abdominal Cardiovascular Diseases
C0221357 BXGD004449 Brachydactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0271385 BXGD006193 Horizontal Nystagmus Eye Diseases; Nervous System Diseases
C0271561 BXGD006213 Somatotropin deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
C0271708 BXGD006244 Fasting Hypoglycemia Nutritional and Metabolic Diseases
C0333068 BXGD006920 Flexion contracture Musculoskeletal Diseases
C0343401 BXGD007623 MRSA - Methicillin resistant Staphylococcus aureus infection Infections
C0349588 BXGD007933 Short stature
C0399526 BXGD008251 Class III malocclusion Stomatognathic Diseases
C0410528 BXGD008430 Skeletal dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0423224 BXGD008475 Sunken eyes Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0426886 BXGD008594 Tapering fingers (finding)
C0432072 BXGD008718 Dysmorphic features
C0432211 BXGD008737 Spondyloepimetaphyseal disorder Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0452138 BXGD008831 Sensorineural hearing loss, bilateral Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0520947 BXGD009126 Clumsiness - motor delay Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0521707 BXGD009166 Bilateral cataracts (disorder) Eye Diseases
C0557874 BXGD009444 Global developmental delay
C0576093 BXGD009525 Knee joint valgus deformity Musculoskeletal Diseases
C0578038 BXGD009542 Thin lips
C0684276 BXGD009793 Hypsarrhythmia Nervous System Diseases
C0699790 BXGD009866 Colon Carcinoma Digestive System Diseases; Neoplasms
C0699791 BXGD009867 Stomach Carcinoma Digestive System Diseases; Neoplasms
C0751651 BXGD010539 Mitochondrial Diseases Nutritional and Metabolic Diseases
C0948387 BXGD011535 Secondary Adrenal Insufficiency Endocrine System Diseases
C0973461 BXGD011595 Dysphasia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1112256 BXGD011655 Sensorimotor neuropathy
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1834129 BXGD013957 Abnormal vertebral morphology
C1836542 BXGD014129 Depressed nasal bridge
C1837260 BXGD014214 Prominent forehead
C1838662 BXGD014334 Metaphyseal irregularity
C1838951 BXGD014347 LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1843156 BXGD014561 Progressive sensorineural hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1844925 BXGD014695 Cervical spinal canal stenosis
C1847584 BXGD014876 Distal sensory impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1848097 BXGD014904 Spondyloepimetaphyseal Dysplasia, X-Linked Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
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
C1853242 BXGD015322 Midface retrusion
C1853487 BXGD015340 Thick eyebrow
C1854301 BXGD015391 Motor delay Mental Disorders
C1857485 BXGD015709 Flat forehead
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1861329 BXGD016033 Spinal canal stenosis Musculoskeletal Diseases
C1865014 BXGD016282 Long philtrum
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C2919142 BXGD017867 Short Stature, CTCAE
C2931891 BXGD018091 Necrotizing encephalopathy, infantile subacute, of Leigh Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C3714796 BXGD019434 Isolated somatotropin deficiency
C3806306 BXGD019505 Periarticular subcutaneous nodules
C4014942 BXGD020173 CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
C4015465 BXGD020208 Thoracic kyphoscoliosis
C4021806 BXGD020795 Prelingual sensorineural hearing impairment
C4324406 BXGD022765 Cerebral volume loss
C4551472 BXGD023303 Hypertrophic obstructive cardiomyopathy Cardiovascular Diseases
C4551583 BXGD023361 Cerebral cortical atrophy
C4551649 BXGD023382 Congenital Dysplasia Of The Hip Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C4554036 BXGD023557 Nystagmus, CTCAE 5.0
C4721453 BXGD023744 Peripheral Nervous System Diseases Nervous System Diseases
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0022652 Isoleucine 131.09
BXGC0042376 Picropodophyllotoxin 414.13
BXGC0047692 Gefitinib 446.15
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