Showing entry for tRNA pseudouridine synthase A


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT022312
Protein NametRNA pseudouridine synthase A
Uniport IdQ9Y606
GenePUS1
Gene Id80324
DomainPseudoU_synth_1
Pfam PF01416  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0070902 mitochondrial tRNA pseudouridine synthesis
Biological Process GO:1990481 mRNA pseudouridine synthesis
Biological Process GO:0031119 tRNA pseudouridine synthesis
molecular function GO:0009982 pseudouridine synthase activity
molecular function GO:0003723 RNA binding
molecular function GO:0002153 steroid receptor RNA activator RNA binding
molecular function GO:0000049 tRNA binding
molecular function GO:0106029 tRNA pseudouridine synthase activity
cellular component GO:0005759 mitochondrial matrix
cellular component GO:0005739 mitochondrion
cellular component GO:0005654 nucleoplasm
cellular component GO:0005634 nucleus
Reactome
Pathway Id Pathway Name
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
C0002884 BXGD000143 Hypochromic anemia Hemic and Lymphatic Diseases
C0002896 BXGD000153 Sideroblastic anemia Hemic and Lymphatic Diseases
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0014800 BXGD000950 Erythroid hyperplasia Pathological Conditions, Signs and Symptoms
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0017601 BXGD001125 Glaucoma Eye Diseases
C0022821 BXGD001590 Kyphosis deformity of spine Musculoskeletal Diseases
C0023903 BXGD001720 Liver neoplasms Digestive System Diseases; Neoplasms
C0024623 BXGD001791 Malignant neoplasm of stomach Digestive System Diseases; Neoplasms
C0025958 BXGD001882 Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0025990 BXGD001884 Micrognathism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026848 BXGD001941 Myopathy Musculoskeletal Diseases; Nervous System Diseases
C0030232 BXGD002197 Pallor Pathological Conditions, Signs and Symptoms
C0034012 BXGD002449 Delayed Puberty Endocrine System Diseases
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0038356 BXGD002747 Stomach Neoplasms Digestive System Diseases; Neoplasms
C0085576 BXGD003188 Iron-Refractory Iron Deficiency Anemia Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
C0162670 BXGD003970 Mitochondrial Myopathies Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0235874 BXGD004781 Disease Exacerbation Pathological Conditions, Signs and Symptoms
C0240421 BXGD005037 Progressive muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0240635 BXGD005047 Byzanthine arch palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
C0241013 BXGD005075 Increased serum ferritin
C0333814 BXGD006969 Pappenheimer body (morphologic abnormality)
C0342784 BXGD007551 Pearson's marrow-pancreas syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0423848 BXGD008516 Distichiasis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0424551 BXGD008533 Impaired exercise tolerance
C0476403 BXGD008992 Electromyogram abnormal
C0751651 BXGD010539 Mitochondrial Diseases Nutritional and Metabolic Diseases
C1708349 BXGD013597 Hereditary Diffuse Gastric Cancer Digestive System Diseases; Neoplasms
C1836440 BXGD014115 Increased serum lactate Nutritional and Metabolic Diseases
C1838103 BXGD014296 MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
C1838114 BXGD014297 Generalized limb muscle atrophy
C1854114 BXGD015383 Short nose
C1865014 BXGD016282 Long philtrum
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2698740 BXGD017455 Pappenheimer Body Count (lab procedure)
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C4021724 BXGD020734 Cytochrome C oxidase-negative muscle fibers
C4324304 BXGD022756 MLASA syndrome Musculoskeletal Diseases; Nervous System Diseases
C4551958 BXGD023449 MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0003705 Chloride 35.45
BXGC0036476 D-Glutamate 147.05
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