Showing entry for Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT006788
Protein NamePyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
Uniport IdP08559
GenePDHA1
Gene Id5160
DomainE1_dh
Pfam PF00676  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
1. Metabolism 1.1 Carbohydrate metabolism hsa00010 Glycolysis / Gluconeogenesis
1. Metabolism 1.1 Carbohydrate metabolism hsa00020 Citrate cycle (TCA cycle)
1. Metabolism 1.1 Carbohydrate metabolism hsa00620 Pyruvate metabolism
1. Metabolism 1.0 Global and overview maps hsa01100 Metabolic pathways
1. Metabolism 1.0 Global and overview maps hsa01200 Carbon metabolism
3. Environmental Information Processing 3.2 Signal transduction hsa04066 HIF-1 signaling pathway
5. Organismal Systems 5.2 Endocrine system hsa04922 Glucagon signaling pathway
6. Human Diseases 6.1 Cancers: Overview hsa05230 Central carbon metabolism in cancer
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0006086 acetyl-CoA biosynthetic process from pyruvate
Biological Process GO:0006006 glucose metabolic process
Biological Process GO:0061732 mitochondrial acetyl-CoA biosynthetic process from pyruvate
Biological Process GO:0006090 pyruvate metabolic process
Biological Process GO:0006099 tricarboxylic acid cycle
molecular function GO:0004739 pyruvate dehydrogenase (acetyl-transferring) activity
molecular function GO:0034604 pyruvate dehydrogenase (NAD+) activity
cellular component GO:0005759 mitochondrial matrix
cellular component GO:0005967 mitochondrial pyruvate dehydrogenase complex
cellular component GO:0005739 mitochondrion
cellular component GO:0005730 nucleolus
cellular component GO:0005634 nucleus
cellular component GO:0045254 pyruvate dehydrogenase complex
Reactome
Pathway Id Pathway Name
R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport
R-HSA-1430728 Metabolism
R-HSA-162582 Signal Transduction
R-HSA-204174 Regulation of pyruvate dehydrogenase (PDH) complex
R-HSA-389661 Glyoxylate metabolism and glycine degradation
R-HSA-5362517 Signaling by Retinoic Acid
R-HSA-70268 Pyruvate metabolism
R-HSA-71291 Metabolism of amino acids and derivatives
R-HSA-71406 Pyruvate metabolism and Citric Acid (TCA) cycle
R-HSA-9006931 Signaling by Nuclear Receptors
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0000772 BXGD000009 Multiple congenital anomalies Congenital, Hereditary, and Neonatal Diseases and Abnormalities
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
C0003886 BXGD000238 Arthrogryposis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007097 BXGD000424 Carcinoma Neoplasms
C0007194 BXGD000452 Hypertrophic Cardiomyopathy Cardiovascular Diseases
C0007758 BXGD000475 Cerebellar Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0007789 BXGD000488 Cerebral Palsy Nervous System Diseases
C0008626 BXGD000559 Congenital chromosomal disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0013362 BXGD000817 Dysarthria Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0013421 BXGD000837 Dystonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0014544 BXGD000926 Epilepsy Nervous System Diseases
C0014859 BXGD000961 Esophageal Neoplasms Digestive System Diseases; Neoplasms
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0018818 BXGD001236 Ventricular Septal Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0020255 BXGD001369 Hydrocephalus Nervous System 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
C0023380 BXGD001640 Lethargy Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0023520 BXGD001678 Leukodystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0024623 BXGD001791 Malignant neoplasm of stomach Digestive System Diseases; Neoplasms
C0025521 BXGD001876 Inborn Errors of Metabolism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0025958 BXGD001882 Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0026650 BXGD001913 Movement Disorders Nervous System Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0027651 BXGD002009 Neoplasms Neoplasms
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
C0029408 BXGD002137 Degenerative polyarthritis Musculoskeletal Diseases
C0030567 BXGD002240 Parkinson Disease Nervous System Diseases
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0033578 BXGD002408 Prostatic Neoplasms Neoplasms; Male Urogenital Diseases
C0034345 BXGD002477 Pyruvate Dehydrogenase Complex Deficiency Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0034350 BXGD002478 Pyruvate Metabolism, Inborn Errors Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic 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
C0037769 BXGD002701 West Syndrome Nervous System Diseases
C0038356 BXGD002747 Stomach Neoplasms Digestive System Diseases; Neoplasms
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous System Diseases
C0085583 BXGD003194 Choreoathetosis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0085633 BXGD003216 Mood swings Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0086743 BXGD003308 Osteoarthrosis Deformans Musculoskeletal Diseases
C0151744 BXGD003469 Myocardial Ischemia Cardiovascular Diseases
C0151889 BXGD003498 Hyperreflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0152018 BXGD003518 Esophageal carcinoma Digestive System Diseases; Neoplasms
C0175754 BXGD004015 Agenesis of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0178874 BXGD004037 Tumor Progression Pathological Conditions, Signs and Symptoms
C0206698 BXGD004248 Cholangiocarcinoma Neoplasms
C0221354 BXGD004446 Frontal bossing Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0235874 BXGD004781 Disease Exacerbation Pathological Conditions, Signs and Symptoms
C0235946 BXGD004789 Cerebral atrophy 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
C0265252 BXGD005483 Coffin-Lowry syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0266464 BXGD005676 Polymicrogyria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0268630 BXGD006016 Hyper-beta-alaninemia Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
C0277873 BXGD006483 Nasal Flaring
C0279626 BXGD006657 Squamous cell carcinoma of esophagus Digestive System Diseases; Neoplasms
C0302511 BXGD006849 Small for gestational age fetus 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
C0376358 BXGD007992 Malignant neoplasm of prostate Neoplasms; Male Urogenital Diseases
C0393525 BXGD008081 Progressive cerebellar ataxia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0393593 BXGD008103 Dystonia Disorders Nervous System Diseases
C0424230 BXGD008522 Motor retardation Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0432072 BXGD008718 Dysmorphic features
C0497202 BXGD009055 Abnormal ocular motility
C0524620 BXGD009236 Metabolic Syndrome X Nutritional and Metabolic Diseases
C0546837 BXGD009343 Malignant neoplasm of esophagus Digestive System Diseases; Neoplasms
C0557874 BXGD009444 Global developmental delay
C0596263 BXGD009639 Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0600139 BXGD009695 Prostate carcinoma Neoplasms; Male Urogenital Diseases
C0686619 BXGD009835 Secondary malignant neoplasm of lymph node Pathological Conditions, Signs and Symptoms; Neoplasms
C0699791 BXGD009867 Stomach Carcinoma Digestive System Diseases; Neoplasms
C0741270 BXGD010030 Intermittent ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0751595 BXGD010517 Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0751596 BXGD010518 Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0751597 BXGD010519 Ataxia with Lactic Acidosis, Type I Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0751651 BXGD010539 Mitochondrial Diseases Nutritional and Metabolic Diseases
C0752347 BXGD010721 Lewy Body Disease Nervous System Diseases; Mental Disorders
C0948163 BXGD011511 Leukoaraiosis Pathological Conditions, Signs and Symptoms
C1167918 BXGD011779 Increased CSF lactate
C1168401 BXGD011792 Squamous cell carcinoma of the head and neck Neoplasms
C1269955 BXGD012005 Tumor Cell Invasion
C1276035 BXGD012100 Pena-Shokeir syndrome type I Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1384666 BXGD012948 hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1531647 BXGD013301 Cerebral ventriculomegaly Nervous System Diseases
C1708349 BXGD013597 Hereditary Diffuse Gastric Cancer Digestive System Diseases; Neoplasms
C1720189 BXGD013668 Episodic Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1836440 BXGD014115 Increased serum lactate Nutritional and Metabolic Diseases
C1837251 BXGD014211 Basal ganglia cysts
C1838951 BXGD014347 LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1839413 BXGD014372 Pyruvate Dehydrogenase E1 Alpha Deficiency Nutritional and Metabolic Diseases
C1839436 BXGD014373 Severe lactic acidosis Nutritional and Metabolic Diseases
C1839437 BXGD014374 Chronic lactic acidosis Nutritional and Metabolic Diseases
C1839888 BXGD014424 Decreased activity of the pyruvate dehydrogenase complex
C1840077 BXGD014434 Anteverted nostril
C1842581 BXGD014525 Abnormal corpus callosum morphology Pathological Conditions, Signs and Symptoms
C1847879 BXGD014895 X-linked dominant inheritance
C1849367 BXGD015046 Nasal bridge wide
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
C1855483 BXGD015501 Progressive spastic paraplegia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1865014 BXGD016282 Long philtrum
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2931891 BXGD018091 Necrotizing encephalopathy, infantile subacute, of Leigh Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C3278923 BXGD018748 Dilated ventricles (finding)
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3806462 BXGD019512 Apneic episodes precipitated by illness, fatigue, stress Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C4022908 BXGD021034 Cerebral white matter hypoplasia
C4024609 BXGD021340 Decreased activity of mitochondrial respiratory chain
C4024923 BXGD021476 Diffuse white matter abnormalities Pathological Conditions, Signs and Symptoms
C4024926 BXGD021478 Focal T2 hyperintense basal ganglia lesion
C4025276 BXGD021618 Congenital lactic acidosis Nutritional and Metabolic Diseases
C4025711 BXGD021747 Abnormal caudate nucleus morphology
C4476566 BXGD022832 Abnormal brain choline level by MRS
C4551517 BXGD023334 Flared nostrils abnormality
C4551563 BXGD023351 Microcephaly (physical finding)
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
BXGC0000436 Glycerol 92.09
BXGC0002588 Magnesium 24.31
BXGC0002591 Potassium 39.1
BXGC0003705 Chloride 35.45
BXGC0042298 Cocarboxylase 425.04
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