Showing entry for Lipoyltransferase 1, mitochondrial


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT022211
Protein NameLipoyltransferase 1, mitochondrial
Uniport IdQ9Y234
GeneLIPT1
Gene Id51601
Domain-
Pfam -  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
1. Metabolism 1.8 Metabolism of cofactors and vitamins hsa00785 Lipoic acid metabolism
1. Metabolism 1.0 Global and overview maps hsa01100 Metabolic pathways
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0034641 cellular nitrogen compound metabolic process
Biological Process GO:0006464 cellular protein modification process
Biological Process GO:0006629 lipid metabolic process
Biological Process GO:0009249 protein lipoylation
molecular function GO:0016746 transferase activity, transferring acyl groups
cellular component GO:0005759 mitochondrial matrix
cellular component GO:0005739 mitochondrion
Reactome
Pathway Id Pathway Name
R-HSA-1430728 Metabolism
R-HSA-389661 Glyoxylate metabolism and glycine degradation
R-HSA-71291 Metabolism of amino acids and derivatives
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0001125 BXGD000024 Acidosis, Lactic Nutritional and Metabolic Diseases
C0002871 BXGD000132 Anemia Hemic and Lymphatic Diseases
C0003578 BXGD000211 Apnea Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0007194 BXGD000452 Hypertrophic Cardiomyopathy Cardiovascular Diseases
C0013362 BXGD000817 Dysarthria Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0013421 BXGD000837 Dystonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0018818 BXGD001236 Ventricular Septal Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0020555 BXGD001431 Hypertrichosis Skin and Connective Tissue Diseases
C0023264 BXGD001625 Leigh Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0023520 BXGD001678 Leukodystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0025521 BXGD001876 Inborn Errors of Metabolism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0028738 BXGD002081 Nystagmus Eye Diseases; Nervous System Diseases
C0029089 BXGD002107 Ophthalmoplegia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0029124 BXGD002113 Optic Atrophy Eye Diseases; Nervous System Diseases
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0034345 BXGD002477 Pyruvate Dehydrogenase Complex Deficiency Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0035334 BXGD002539 Retinitis Pigmentosa Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0036857 BXGD002638 Severe intellectual disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous System Diseases
C0085584 BXGD003195 Encephalopathies Nervous System Diseases
C0085633 BXGD003216 Mood swings Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0151889 BXGD003498 Hyperreflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0232744 BXGD004561 Decreased liver function
C0234133 BXGD004624 Extrapyramidal sign
C0393525 BXGD008081 Progressive cerebellar ataxia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0428977 BXGD008644 Bradycardia Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0557874 BXGD009444 Global developmental delay
C0575059 BXGD009510 Spastic tetraparesis Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0740279 BXGD009973 Cerebellar atrophy
C0741494 BXGD010035 Elevated total bilirubin
C0751748 BXGD010573 Nonketotic Hyperglycinemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0948163 BXGD011511 Leukoaraiosis Pathological Conditions, Signs and Symptoms
C1167918 BXGD011779 Increased CSF lactate
C1277241 BXGD012110 Delayed myelination Mental Disorders
C1291311 BXGD012207 Deficiency of dehydrogenase
C1384666 BXGD012948 hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1836440 BXGD014115 Increased serum lactate Nutritional and Metabolic Diseases
C1839888 BXGD014424 Decreased activity of the pyruvate dehydrogenase complex
C1848701 BXGD014967 Elevated hepatic transaminase
C1853743 BXGD015358 Muscular hypotonia of the trunk Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1855483 BXGD015501 Progressive spastic paraplegia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1858430 BXGD015792 Death in infancy
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C2973725 BXGD018205 Pulmonary arterial hypertension Respiratory Tract Diseases; Cardiovascular Diseases
C3203102 BXGD018555 Idiopathic pulmonary arterial hypertension Respiratory Tract Diseases
C4024609 BXGD021340 Decreased activity of mitochondrial respiratory chain
C4024926 BXGD021478 Focal T2 hyperintense basal ganglia lesion
C4225379 BXGD022252 LIPOYLTRANSFERASE 1 DEFICIENCY
C4552072 BXGD023482 X-linked infantile spasms Nervous System 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
BXGC0021478 Lipoic Acid 206.04
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