NDUFB9 - NADH:ubiquinone oxidoreductase subunit B9 Gene

Also Known as B22; LYRM3; CI-B22; UQOR22; MC1DN24

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4715

About NDUFB9

Cytogenetic location: 8q24.13 Genomic coordinates (GRCh38): 8:124,539,123-124,549,979 (from NCBI)

This gene has 16 transcripts (splice variants), 208 orthologues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 119.4), kidney (RPKM 111.6) and 25 other tissues.

Summary

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]

NDUFB9 Products (4)

mRNA	Protein	Name
NM_001278645.2	NP_001265574.1	NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 isoform 2
NM_001278646.2	NP_001265575.1	NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 isoform 3
NM_001311168.2	NP_001298097.1	NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 isoform 4
NM_005005.3	NP_004996.1	NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mitochondrial respiratory chain complex I assembly	IMP IMP: Inferred from mutant phenotype	27626371	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	28844695	GOA
part of respiratory chain complex I	IDA IDA: Inferred from direct assay	12611891	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NDUFB9 Protein Structure

Complex1_LYR

0
100
179 a.a.

Protein Preferred Names	Protein Names
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9	LYR motif-containing protein 3

NDUFB9 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	NDUFB9	Q9Y6M9	MAGEA11	Homo sapiens	P43364-2	Y2H Array	25416956
Intra	NDUFB9	Q9Y6M9	MAGEA11	Homo sapiens	P43364-2	Y2H Prey Pooling	25416956
Intra	NDUFB9	Q9Y6M9	MAGEA11	Homo sapiens	P43364	Y2H Prey Pooling	32296183
Intra	NDUFB9	Q9Y6M9	MAGEA11	Homo sapiens	P43364	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

NDUFB9 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81595	NDUFB9 Antibody (YA1340)	WB, IHC-F, IHC-P, ICC/IF, IP	Human, Mouse, Rat
HY-P81595A	NDUFB9 Antibody (YA1340)(PBS only)	WB, IHC-F, IHC-P, ICC/IF, IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Mitochondrial Complex I Deficiency, Nuclear Type 24	MC1DN24 Mitochondrial Complex 1 Deficiency, Nuclear Type 24 Nuclear Type Mitochondrial Complex I Deficiency 24
Mitochondrial Complex I Deficiency, Nuclear Type 1	Mitochondrial Complex I Deficiency Nadh:Q(1) Oxidoreductase Deficiency MC1DN1 Nadh-Coenzyme Q Reductase Deficiency Isolated Mitochondrial Respiratory Chain Complex I Deficiency Isolated Nadh-Coenzyme Q Reductase Deficiency Isolated Nadh-Coq Reductase Deficiency Isolated Nadh-Ubiquinone Reductase Deficiency Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of Nuclear Type Mitochondrial Complex I Deficiency 1 Isolated Complex I Deficiency Complex 1 Mitochondrial Respiratory Chain Deficiency Nadh Coenzyme Q Reductase Deficiency Complex I Mitochondrial Respiratory Chain Deficiency Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I Nadh:Ubiquinone Oxidoreductase Deficiency Complex I, Mitochondrial Respiratory Chain, Deficiency Of
Epilepsy, Idiopathic Generalized 11	Epilepsy, Idiopathic Generalized, Susceptibility To, 11 EIG11 Epilepsy, Juvenile Absence 2 Epilepsy, Juvenile Myoclonic 8 Idiopathic Generalized Epilepsy 11 Epilepsy, Juvenile Absence, Susceptibility To, 2 Epilepsy, Juvenile Myoclonic, Susceptibility To, 8 Susceptibility To Idiopathic Generalized Epilepsy 11 Juvenile Absence Epilepsy 2 JAE2 Eja2 Susceptibility To Juvenile Absence Epilepsy 2 Juvenile Myoclonic Epilepsy 8 EJM8 Susceptibility To Juvenile Myoclonic Epilepsy 8 Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 11
Chronic Laryngitis
Liver Disease	Liver Failure Liver Diseases Abnormality Of The Liver Liver Dysfunction Disorder Of Liver Hepatic Disorder Hepatic Disease Disease Of Bilirubin Metabolism Disorder Of Bilirubin Metabolism Liver Decompensation Liver Function Failure Hepatic Failure Nos Liver Failure Nos End Stage Liver Disease Decompensated Liver Failure Decompensation Of Liver Function Hepatic Decompensation Hepatic Insufficiency Liver Cell Necrosis With Hepatic Failure Liver Insufficiency Decompensated Liver Disease End Stage Liver Failure Liver Necrosis With Hepatic Failure
Cardiomyopathy, Infantile Histiocytoid	Histiocytoid Cardiomyopathy Foamy Myocardial Transformation Of Infancy Infantile Histiocytoid Cardiomyopathy Infantile Xanthomatous Cardiomyopathy Oncocytic Cardiomyopathy Cardiomyopathy, Infantile Xanthomatous Cardiomyopathy, Focal Lipid Cardiomyopathy, Oncocytic Focal Lipid Cardiomyopathy Infantile Cardiomyopathy With Histiocytoid Change CMIH Cardiomyopathy Focal Lipid Cardiomyopathy Infantile Xanthomatous Cardiomyopathy Oncocytic
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Leukodystrophy	Leukodystrophies
Myopathy	Muscular Diseases Myopathies

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09154	NDUFB9 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-169281	Antiviral agent 61	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	NDUFB9	VGNC	VGNC:31967
Felis catus	NDUFB9	VGNC	VGNC:81713
Rattus norvegicus	NDUFB9	RGD	RGD:1307114
Macaca mulatta	NDUFB9	VGNC	VGNC:75160
Mus musculus	NDUFB9	MGD	MGI:1913468
Canis familiaris	NDUFB9	VGNC	VGNC:43706
Others	NDUFB9	NCBI