Showing entry for NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT021710
Protein NameNADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12
Uniport IdQ9UI09
GeneNDUFA12
Gene Id55967
DomainNDUFA12
Pfam PF05071  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
1. Metabolism 1.2 Energy metabolism hsa00190 Oxidative phosphorylation
1. Metabolism 1.0 Global and overview maps hsa01100 Metabolic pathways
5. Organismal Systems 5.10 Environmental adaptation hsa04714 Thermogenesis
5. Organismal Systems 5.6 Nervous system hsa04723 Retrograde endocannabinoid signaling
6. Human Diseases 6.7 Endocrine and metabolic diseases hsa04932 Non-alcoholic fatty liver disease (NAFLD)
6. Human Diseases 6.4 Neurodegenerative diseases hsa05010 Alzheimer disease
6. Human Diseases 6.4 Neurodegenerative diseases hsa05012 Parkinson disease
6. Human Diseases 6.4 Neurodegenerative diseases hsa05016 Huntington disease
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0042775 mitochondrial ATP synthesis coupled electron transport
Biological Process GO:0006120 mitochondrial electron transport, NADH to ubiquinone
Biological Process GO:0032981 mitochondrial respiratory chain complex I assembly
Biological Process GO:0007585 respiratory gaseous exchange by respiratory system
Biological Process GO:0006979 response to oxidative stress
molecular function GO:0009055 electron transfer activity
molecular function GO:0008137 NADH dehydrogenase (ubiquinone) activity
cellular component GO:0005829 cytosol
cellular component GO:0005743 mitochondrial inner membrane
cellular component GO:0005747 mitochondrial respiratory chain complex I
cellular component GO:0005739 mitochondrion
Reactome
Pathway Id Pathway Name
R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport
R-HSA-1430728 Metabolism
R-HSA-163200 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
R-HSA-611105 Respiratory electron transport
R-HSA-6799198 Complex I biogenesis
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0002395 BXGD000111 Alzheimer's Disease Nervous System Diseases; Mental Disorders
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
C0011860 BXGD000755 Diabetes Mellitus, Non-Insulin-Dependent Nutritional and Metabolic Diseases; Endocrine System 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
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
C0035334 BXGD002539 Retinitis Pigmentosa Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal 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
C0085633 BXGD003216 Mood swings Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0151889 BXGD003498 Hyperreflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0241726 BXGD005110 Delayed ability to walk
C0342776 BXGD007546 Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
C0393525 BXGD008081 Progressive cerebellar ataxia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0451819 BXGD008828 Simple obesity Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
C0541794 BXGD009262 Skeletal muscle atrophy
C0557874 BXGD009444 Global developmental delay
C1167918 BXGD011779 Increased CSF lactate
C1384666 BXGD012948 hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1836440 BXGD014115 Increased serum lactate Nutritional and Metabolic Diseases
C1838951 BXGD014347 LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1839888 BXGD014424 Decreased activity of the pyruvate dehydrogenase complex
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
C1956346 BXGD016627 Coronary Artery Disease Cardiovascular Diseases
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C2931891 BXGD018091 Necrotizing encephalopathy, infantile subacute, of Leigh Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C4024609 BXGD021340 Decreased activity of mitochondrial respiratory chain
C4024926 BXGD021478 Focal T2 hyperintense basal ganglia lesion
C4554036 BXGD023557 Nystagmus, CTCAE 5.0
C4721453 BXGD023744 Peripheral Nervous System Diseases Nervous System Diseases
C4748799 BXGD024028 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0005989 Auraptene 298.38
BXGC0014139 R-(+)-Marmin 332.16
BXGC0015383 7-(6'r-Hydroxy-3',7'-Dimethyl-2'e,7'-Octadienyloxy)Coumarin 314.15
BXGC0031377 7-[(E,6R)-7-Chloro-6-Hydroxy-3,7-Dimethyloct-2-Enoxy]Chromen-2-One 350.13
BXGC0032047 7-[(2E)-3,7-Dimethylocta-2,6-Dienoxy]-6-Methoxychromen-2-One 328.17
BXGC0035162 Dehydromarmeline 335.19
BXGC0037648 (+)-9'-Isovaleroxylariciresinol 444.21
BXGC0039815 7-[(E,6R)-6-Hydroxy-7-Methoxy-3,7-Dimethyloct-2-Enoxy]Chromen-2-One 346.18
BXGC0045118 R-(+)-Marmin-6'-Octanoate 458.27
BXGC0045119 R-(+)-Marmin-6'-Undecanoate 500.31
BXGC0045120 R-(+)-Marmin-6'-palmitate 570.39
BXGC0045121 R-(+)-Marmin-6'-Linoleate 594.39
BXGC0045122 R-(+)-Marmin-6'-cis-vaccenoate 596.41
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