Showing entry for 6-pyruvoyl tetrahydrobiopterin synthase


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT012711
Protein Name6-pyruvoyl tetrahydrobiopterin synthase
Uniport IdQ03393
GenePTS
Gene Id5805
DomainPTPS
Pfam PF01242  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
1. Metabolism 1.8 Metabolism of cofactors and vitamins hsa00790 Folate biosynthesis
1. Metabolism 1.0 Global and overview maps hsa01100 Metabolic pathways
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0006520 cellular amino acid metabolic process
Biological Process GO:0007417 central nervous system development
Biological Process GO:0006729 tetrahydrobiopterin biosynthetic process
molecular function GO:0003874 6-pyruvoyltetrahydropterin synthase activity
molecular function GO:0042802 identical protein binding
molecular function GO:0046872 metal ion binding
cellular component GO:0005737 cytoplasm
cellular component GO:0005829 cytosol
cellular component GO:0005739 mitochondrion
Reactome
Pathway Id Pathway Name
R-HSA-1430728 Metabolism
R-HSA-1474151 Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
R-HSA-196854 Metabolism of vitamins and cofactors
R-HSA-8978934 Metabolism of cofactors
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0000921 BXGD000019 Accidental Falls
C0002622 BXGD000119 Amnesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0004096 BXGD000252 Asthma Respiratory Tract Diseases; Immune System Diseases
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0005586 BXGD000315 Bipolar Disorder Mental Disorders
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0007684 BXGD000472 Central Nervous System Infection Infections; Nervous System Diseases
C0009024 BXGD000578 Clonus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0009319 BXGD000596 Colitis Digestive System Diseases
C0009402 BXGD000605 Colorectal Carcinoma Digestive System Diseases; Neoplasms
C0011168 BXGD000700 Deglutition Disorders Digestive System Diseases; Otorhinolaryngologic Diseases
C0011581 BXGD000733 Depressive disorder Mental Disorders
C0013132 BXGD000799 Drooling Stomatognathic Diseases
C0013144 BXGD000800 Drowsiness Mental Disorders
C0013421 BXGD000837 Dystonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0016169 BXGD001048 pathologic fistula Pathological Conditions, Signs and Symptoms
C0020501 BXGD001409 Primary Hyperoxaluria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0022107 BXGD001530 Irritable Mood Behavior and Behavior Mechanisms
C0023903 BXGD001720 Liver neoplasms Digestive System Diseases; Neoplasms
C0025517 BXGD001875 Metabolic Diseases Nutritional and Metabolic Diseases
C0025958 BXGD001882 Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0026826 BXGD001935 Muscle Hypertonia Pathological Conditions, Signs and Symptoms; 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
C0027066 BXGD001966 Myoclonus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0027651 BXGD002009 Neoplasms Neoplasms
C0030232 BXGD002197 Pallor Pathological Conditions, Signs and Symptoms
C0031485 BXGD002303 Phenylketonurias Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0035021 BXGD002501 Relapsing Fever Infections
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0037036 BXGD002661 Sialorrhea Stomatognathic Diseases
C0037763 BXGD002699 Spasm Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0038436 BXGD002755 Post-Traumatic Stress Disorder Mental Disorders
C0040822 BXGD002885 Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0085583 BXGD003194 Choreoathetosis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0085631 BXGD003214 Agitation Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0085637 BXGD003219 Oculogyric crisis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0149871 BXGD003375 Deep Vein Thrombosis Cardiovascular Diseases
C0151818 BXGD003480 Opisthotonus Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0151889 BXGD003498 Hyperreflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0233565 BXGD004590 Bradykinesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0235991 BXGD004802 Small for gestational age (disorder) Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
C0238472 BXGD004939 TOXOPLASMOSIS, CHRONIC Infections
C0242422 BXGD005163 Parkinsonian Disorders Nervous System Diseases
C0268464 BXGD005954 Transient hyperphenylalaninemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0268465 BXGD005955 Phenylketonuria II Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0268468 BXGD005957 Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms
C0276496 BXGD006426 Familial Alzheimer Disease (FAD) Nervous System Diseases; Mental Disorders
C0302362 BXGD006845 Brucella melitensis infection Infections
C0302511 BXGD006849 Small for gestational age fetus Pathological Conditions, Signs and Symptoms
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0338908 BXGD007218 Mixed anxiety and depressive disorder Mental Disorders
C0342686 BXGD007526 Aromatic amino acid decarboxylase deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0424230 BXGD008522 Motor retardation Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0454644 BXGD008850 Delayed speech and language development Behavior and Behavior Mechanisms
C0520947 BXGD009126 Clumsiness - motor delay Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0557874 BXGD009444 Global developmental delay
C0684276 BXGD009793 Hypsarrhythmia Nervous System Diseases
C0694563 BXGD009854 Excessive daytime somnolence
C0751434 BXGD010439 Classical phenylketonuria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0751435 BXGD010440 Hyperphenylalaninaemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0751436 BXGD010441 Hyperphenylalaninemia, Non-Phenylketonuric Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0752207 BXGD010695 Familial Dystonia Nervous System Diseases
C0878676 BXGD011385 6-pyruvoyl-tetrahydropterin synthase deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1291564 BXGD012219 Deficiency of aromatic-L-amino-acid decarboxylase
C1829648 BXGD013791 Amino acidemias
C1836038 BXGD014073 Poor head control Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1837142 BXGD014201 Poor suck
C1846149 BXGD014786 Intellectual disability, progressive Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C1853743 BXGD015358 Muscular hypotonia of the trunk Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1854301 BXGD015391 Motor delay Mental Disorders
C1854838 BXGD015438 Progressive neurologic deterioration Mental Disorders
C1861172 BXGD016016 Venous Thromboembolism Cardiovascular Diseases
C1862939 BXGD016144 AMYOTROPHIC LATERAL SCLEROSIS 1 Nutritional and Metabolic Diseases; Nervous System Diseases
C1863052 BXGD016149 ALZHEIMER DISEASE, FAMILIAL, 1 Nervous System Diseases; Mental Disorders
C1963060 BXGD016679 Agitation, CTCAE 3.0
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2697766 BXGD017436 Interleukin 18 Measurement
C2700617 BXGD017474 Irritation - emotion Behavior and Behavior Mechanisms
C2830004 BXGD017804 Somnolence Pathological Conditions, Signs and Symptoms
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3714772 BXGD019433 Recurrent fevers
C3887506 BXGD019886 Hyperkinesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4017280 BXGD020429 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY
C4551993 BXGD023469 Amyotrophic Lateral Sclerosis, Familial Nutritional and Metabolic Diseases; Nervous System Diseases
C4552810 BXGD023525 Irritability, CTCAE
C4552855 BXGD023528 Agitation, CTCAE 5.0
C4722085 BXGD023788 Malignant neoplasm of colon and/or rectum
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0002588 Magnesium 24.31
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