Showing entry for NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3



                       
General Target Information
BXGT IdBXGT020131
Protein NameNADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3
Uniport IdQ9BU61
GeneNDUFAF3
Gene Id25915
DomainDUF498
Pfam PF04430  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
5. Organismal Systems 5.10 Environmental adaptation hsa04714 Thermogenesis
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0032981 mitochondrial respiratory chain complex I assembly
cellular component GO:0005743 mitochondrial inner membrane
cellular component GO:0005634 nucleus
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
C0001126 BXGD000025 Renal tubular acidosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0002871 BXGD000132 Anemia Hemic and Lymphatic Diseases
C0003578 BXGD000211 Apnea Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0007193 BXGD000451 Cardiomyopathy, Dilated Cardiovascular Diseases
C0007194 BXGD000452 Hypertrophic Cardiomyopathy Cardiovascular Diseases
C0008489 BXGD000546 Chorea Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0011168 BXGD000700 Deglutition Disorders Digestive System Diseases; Otorhinolaryngologic Diseases
C0011849 BXGD000751 Diabetes Mellitus Nutritional and Metabolic Diseases; Endocrine System Diseases
C0013384 BXGD000826 Dyskinetic syndrome 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
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
C0018802 BXGD001227 Congestive heart failure Cardiovascular Diseases
C0019209 BXGD001305 Hepatomegaly Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0020555 BXGD001431 Hypertrichosis Skin and Connective Tissue Diseases
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
C0026266 BXGD001895 Mitral Valve Insufficiency Cardiovascular Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026838 BXGD001938 Muscle Spasticity Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0027066 BXGD001966 Myoclonus 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
C0029132 BXGD002117 Disorder of the optic nerve Eye Diseases; Nervous System Diseases
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0035229 BXGD002516 Respiratory Insufficiency Respiratory Tract Diseases
C0035309 BXGD002530 Retinal Diseases Eye Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous System Diseases
C0042963 BXGD003018 Vomiting Pathological Conditions, Signs and Symptoms
C0085584 BXGD003195 Encephalopathies Nervous System Diseases
C0151786 BXGD003475 Muscle Weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0151889 BXGD003498 Hyperreflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0162670 BXGD003970 Mitochondrial Myopathies Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0232466 BXGD004543 Feeding difficulties
C0232744 BXGD004561 Decreased liver function
C0234649 BXGD004692 Abnormal saccadic eye movement
C0234985 BXGD004708 Mental deterioration Mental Disorders
C0235831 BXGD004773 Renal Cell Dysplasia Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0241816 BXGD005115 Global brain atrophy
C0270612 BXGD006081 Leukoencephalopathy Nervous System Diseases
C0342776 BXGD007546 Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
C0456909 BXGD008883 Blindness Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0476273 BXGD008986 Respiratory distress Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0554970 BXGD009428 Pallor of optic disc
C0557874 BXGD009444 Global developmental delay
C0751651 BXGD010539 Mitochondrial Diseases Nutritional and Metabolic Diseases
C1145670 BXGD011764 Respiratory Failure Respiratory Tract Diseases
C1167918 BXGD011779 Increased CSF lactate
C1384666 BXGD012948 hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1445953 BXGD013080 Poor eye contact Mental Disorders
C1458155 BXGD013136 Mammary Neoplasms Neoplasms; Skin and Connective Tissue Diseases
C1531647 BXGD013301 Cerebral ventriculomegaly Nervous System Diseases
C1609433 BXGD013438 Congenital absence of kidneys syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1836038 BXGD014073 Poor head control Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1836440 BXGD014115 Increased serum lactate Nutritional and Metabolic Diseases
C1836830 BXGD014165 Developmental regression Mental Disorders
C1837142 BXGD014201 Poor suck
C1838979 BXGD014349 MITOCHONDRIAL COMPLEX I DEFICIENCY Nutritional and Metabolic Diseases
C1839603 BXGD014388 Proximal tubulopathy Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1842820 BXGD014538 Cardiac conduction abnormality
C1847515 BXGD014869 Paroxysmal involuntary eye movements
C1849488 BXGD015058 Increased serum pyruvate
C1850601 BXGD015159 Abnormality of brainstem morphology
C1851959 BXGD015251 Fluctuations in consciousness
C1858427 BXGD015791 Limited extraocular movements
C1858430 BXGD015792 Death in infancy
C1860834 BXGD016006 Infantile muscular hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1865916 BXGD016355 Bilateral ptosis Eye Diseases
C1956257 BXGD016623 Pulmonary Stenosis Cardiovascular Diseases
C1962966 BXGD016678 Retinopathy, CTCAE
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C2677650 BXGD017382 Decreased activity of mitochondrial complex I
C2750913 BXGD017685 Neuronal loss in basal ganglia
C2750915 BXGD017686 Basal ganglia gliosis Pathological Conditions, Signs and Symptoms
C3278923 BXGD018748 Dilated ventricles (finding)
C3536714 BXGD019069 Renal dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C3665347 BXGD019279 Visual Impairment Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3805839 BXGD019490 Central hypoventilation Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C4021243 BXGD020593 Abnormality of thalamus morphology
C4021546 BXGD020663 Abnormal mitochondria in muscle tissue
C4022748 BXGD020979 Focal T2 hyperintense brainstem lesion
C4022762 BXGD020989 Elevated brain lactate level by MRS
C4024923 BXGD021476 Diffuse white matter abnormalities Pathological Conditions, Signs and Symptoms
C4025701 BXGD021741 Abnormality of the cerebral cortex
C4025706 BXGD021745 Abnormal globus pallidus morphology
C4025711 BXGD021747 Abnormal caudate nucleus morphology
C4553743 BXGD023548 Spasticity, CTCAE
C4554036 BXGD023557 Nystagmus, CTCAE 5.0
C4721453 BXGD023744 Peripheral Nervous System Diseases Nervous System Diseases
C4748790 BXGD024026 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
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