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


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT004139
Protein NameNADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1
Uniport IdO15239
GeneNDUFA1
Gene Id4694
DomainMWFE
Pfam PF15879  
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:0006120 mitochondrial electron transport, NADH to ubiquinone
Biological Process GO:0032981 mitochondrial respiratory chain complex I assembly
molecular function GO:0008137 NADH dehydrogenase (ubiquinone) activity
cellular component GO:0005829 cytosol
cellular component GO:0016021 integral component of membrane
cellular component GO:0005743 mitochondrial inner membrane
cellular component GO:0031966 mitochondrial 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
C0001125 BXGD000024 Acidosis, Lactic Nutritional and Metabolic Diseases
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0007117 BXGD000433 Basal cell carcinoma Neoplasms
C0007194 BXGD000452 Hypertrophic Cardiomyopathy Cardiovascular Diseases
C0009402 BXGD000605 Colorectal Carcinoma Digestive System Diseases; Neoplasms
C0011849 BXGD000751 Diabetes Mellitus Nutritional and Metabolic Diseases; Endocrine System Diseases
C0014550 BXGD000930 Myoclonic Epilepsy Nervous System Diseases
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0015930 BXGD001025 Fetal Distress Pathological Conditions, Signs and Symptoms
C0015934 BXGD001026 Fetal Growth Retardation Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
C0018784 BXGD001220 Sensorineural Hearing Loss (disorder) Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0019209 BXGD001305 Hepatomegaly Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0020179 BXGD001363 Huntington Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
C0020615 BXGD001445 Hypoglycemia Nutritional and Metabolic 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
C0025958 BXGD001882 Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0028738 BXGD002081 Nystagmus Eye Diseases; Nervous System Diseases
C0029132 BXGD002117 Disorder of the optic nerve Eye Diseases; Nervous System Diseases
C0030567 BXGD002240 Parkinson Disease Nervous System Diseases
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0035229 BXGD002516 Respiratory Insufficiency Respiratory Tract Diseases
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous System Diseases
C0042963 BXGD003018 Vomiting Pathological Conditions, Signs and Symptoms
C0085583 BXGD003194 Choreoathetosis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0085584 BXGD003195 Encephalopathies Nervous System Diseases
C0151888 BXGD003497 Hyporeflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0162666 BXGD003967 Mitochondrial Encephalomyopathies Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0162670 BXGD003970 Mitochondrial Myopathies Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0162671 BXGD003971 MELAS Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
C0232466 BXGD004543 Feeding difficulties
C0234133 BXGD004624 Extrapyramidal sign
C0241726 BXGD005110 Delayed ability to walk
C0270612 BXGD006081 Leukoencephalopathy Nervous System Diseases
C0342776 BXGD007546 Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
C0424605 BXGD008535 Developmental delay (disorder) Mental Disorders
C0456909 BXGD008883 Blindness Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0524851 BXGD009246 Neurodegenerative Disorders Nervous System Diseases
C0554970 BXGD009428 Pallor of optic disc
C0557874 BXGD009444 Global developmental delay
C0748903 BXGD010206 spinal cord involvement
C0751651 BXGD010539 Mitochondrial Diseases Nutritional and Metabolic Diseases
C0917796 BXGD011408 Optic Atrophy, Hereditary, Leber Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
C0949856 BXGD011588 Oxidative Phosphorylation Deficiencies Nutritional and Metabolic Diseases
C1167918 BXGD011779 Increased CSF lactate
C1445953 BXGD013080 Poor eye contact Mental Disorders
C1456276 BXGD013112 Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome)
C1836038 BXGD014073 Poor head control Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System 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
C1838979 BXGD014349 MITOCHONDRIAL COMPLEX I DEFICIENCY Nutritional and Metabolic Diseases
C1839603 BXGD014388 Proximal tubulopathy Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1845977 BXGD014769 X- linked recessive
C1847515 BXGD014869 Paroxysmal involuntary eye movements
C1849488 BXGD015058 Increased serum pyruvate
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
C1853743 BXGD015358 Muscular hypotonia of the trunk Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1861403 BXGD016045 Variable expressivity
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C2677650 BXGD017382 Decreased activity of mitochondrial complex I
C2931891 BXGD018091 Necrotizing encephalopathy, infantile subacute, of Leigh Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C3811653 BXGD019662 Experimental Organism Basal Cell Carcinoma Neoplasms
C3887709 BXGD019918 Optic Neuropathy Eye Diseases; Nervous System Diseases
C4021546 BXGD020663 Abnormal mitochondria in muscle tissue
C4021759 BXGD020762 Generalized myoclonic seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4022748 BXGD020979 Focal T2 hyperintense brainstem lesion
C4554036 BXGD023557 Nystagmus, CTCAE 5.0
C4721806 BXGD023772 Carcinoma, Basal Cell Neoplasms
C4746984 BXGD023965 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12
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