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Tclin NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9

Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.

The protein encoded by this gene is a subunit of the mitochondrial oxidative phosphorylation complex I (nicotinamide adenine dinucleotide: ubiquinone oxidoreductase). Complex I is localized to the inner mitochondrial membrane and functions to dehydrogenate nicotinamide adenine dinucleotide and to shuttle electrons to coenzyme Q. Complex I deficiency is the most common defect found in oxidative phosphorylation disorders and results in a range of conditions, including lethal neonatal disease, hypertrophic cardiomyopathy, liver disease, and adult-onset neurodegenerative disorders. Pseudogenes of this gene are found on chromosomes five, seven and eight. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]

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Property Summary

NCBI Gene PubMed Count 25
PubMed Score 263.51
PubTator Score 84.73

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Mitochondrial complex I deficiency 46 0.0 5.0
Weight Gain 95 0.0 0.0
Disease Target Count
Abnormal mitochondria in muscle tissue 20
Acidosis, Lactic 97
Acute necrotizing encephalopathy 14
Atrophy of cerebellum 101
Autosomal recessive predisposition 1407
Babinski Reflex 98
Blepharoptosis 229
Blind Vision 110
Blindness, Legal 109
Brain Edema 47
CSF lactate increased 33
Cerebellar Ataxia 302
Cerebellar degeneration 101
Cerebral Edema 30
Cognitive delay 596
Comatose 55
Decreased tendon reflex 121
Developmental regression 94
Epilepsy 775
Failure to gain weight 359
Feeding difficulties in infancy 174
Global developmental delay 596
Growth delay 112
Growth failure 112
Growth retardation 113
Highly variable clinical phenotype 147
Highly variable phenotype and severity 147
Highly variable phenotype, even within families 147
Hyperreflexia 208
Hypertrophic Cardiomyopathy 115
Hypoglycemia 146
Impaired exercise tolerance 42
Infratentorial atrophy 101
Lactic acidemia 95
Lethargy 77
Leukodystrophy 55
Liver Failure 72
Loss of developmental milestones 94
Mental and motor retardation 596
Mental deterioration in childhood 94
Muscle Spasticity 192
Muscle Weakness 168
Muscle hypotonia 562
NADH:Q(1) Oxidoreductase deficiency 24
Neurodevelopmental regression 94
Neurogenic Muscular Atrophy 136
Neurogenic muscle atrophy, especially in the lower limbs 136
Nystagmus 309
Pallor of optic disc 39
Pediatric failure to thrive 359
Phenotypic variability 147
Poor growth 112
Progressive macrocephaly 18
Psychomotor regression 94
Psychomotor regression beginning in infancy 94
Psychomotor regression in infants 94
Psychomotor regression, progressive 94
Respiratory Failure 101
Seizures 584
Sensorineural Hearing Loss (disorder) 281
Skeletal muscle atrophy 136
Strabismus 265
Very poor growth 112
Vomiting 116
X-linked dominant 56
muscle degeneration 136
Disease Target Count P-value
Breast cancer 3469 3.2e-04
ovarian cancer 8297 6.6e-04
Disease Target Count Z-score Confidence
Osgood-Schlatter's disease 6 3.911 2.0
Toxoplasmosis 17 3.253 1.6
Disease Target Count
Mitochondrial Complex 1 Deficiency 28

Expression

  Differential Expression (2)

Disease log2 FC p
Breast cancer 1.100 3.2e-04
ovarian cancer 1.800 6.6e-04

Synonym

Accession Q9Y6M9 B2R8M6 Q9UQE8
Symbols B22
LYRM3
CI-B22
UQOR22

Gene

NDUFB9

PANTHER Protein Class (1)

PDB

5XTC   5XTD   5XTH   5XTI  

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG Inparanoid

 UniProt Keyword (13)

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 GO Function (1)

 GO Component (4)

 GO Process (3)

 Compartment GO Term (39)

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 IMPC Phenotype (1)

 HCA RNA Cell Line (56)

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Pathway (15)

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Drug (1)

Structure of metformin

metformin

Ligand (1)

Structure of CHEMBL215387

CHEMBL215387
pIC50 7.80

Gene RIF (7)

AA Sequence 

MAFLASGPYLTHQQKVLRLYKRALRHLESWCVQRDKYRYFACLMRARFEEHKNEKDMAKATQLLKEAEEE      1 - 70
FWYRQHPQPYIFPDSPGGTSYERYDCYKVPEWCLDDWHPSEKAMYPDYFAKREQWKKLRRESWEREVKQL     71 - 140
QEETPPGGPLTEALPPARKEGDLPPLWWYIVTRPRERPM                                   141 - 179
//

Text Mined References (30)

PMID Year Title