NDUFV1 - NADH:ubiquinone oxidoreductase core subunit V1 Gene

Also Known as UQOR1; CI-51K; CI51KD; MC1DN4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4723

About NDUFV1

Cytogenetic location: 11q13.2 Genomic coordinates (GRCh38): 11:67,606,936-67,612,554 (from NCBI)

This gene has 29 transcripts (splice variants), 255 orthologues and is associated with 4 phenotypes. Ubiquitous expression in heart (RPKM 100.7), kidney (RPKM 86.9) and 25 other tissues.

Summary

The mitochondrial respiratory chain provides energy to cells via Oxidative Phosphorylation and consists of four membrane-bound electron-transporting protein complexes (I-IV) and an ATP Synthase (complex V). This gene encodes a 51 kDa subunit of the NADH:ubiquinone oxidoreductase complex I; a large complex with at least 45 nuclear and mitochondrial encoded subunits that liberates electrons from NADH and channels them to ubiquinone. This subunit carries the NADH-binding site as well as flavin mononucleotide (FMN)- and Fe-S-biding sites. Defects in complex I are a common cause of mitochondrial dysfunction; a syndrome that occurs in approximately 1 in 10,000 live births. Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies, and neurodegenerative disorders such as Parkinson's disease and Leigh syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]

NDUFV1 Products (2)

mRNA	Protein	Name
NM_001166102.2	NP_001159574.1	NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial isoform 2 precursor
NM_007103.4	NP_009034.2	NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables NADH dehydrogenase (ubiquinone) activity	IDA IDA: Inferred from direct assay	28844695	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	24344204	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mitochondrial ATP synthesis coupled electron transport	IMP IMP: Inferred from mutant phenotype	24746669	GOA
involved in mitochondrial electron transport, NADH to ubiquinone	IDA IDA: Inferred from direct assay	28844695	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
part of respiratory chain complex I	IMP IMP: Inferred from mutant phenotype	11112787	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

NDUFV1 Protein Structure

Complex1_51K

SLBB

NADH_4Fe-4S

0
100
200
300
400
464 a.a.

Protein Preferred Names	Protein Names
NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa

NDUFV1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	NDUFV1	P49821	YWHAG	Homo sapiens	P61981	Validated Y2H	32814053
Intra	NDUFV1	P49821	YWHAG	Homo sapiens	P61981	Y2H Pooling	32814053
Intra	NDUFV1	P49821	YWHAG	Homo sapiens	P61981	Y2H Array	32814053
Intra	NDUFV1	P49821	CYSRT1	Homo sapiens	A8MQ03	Y2H Array	32296183
Intra	NDUFV1	P49821	CYSRT1	Homo sapiens	A8MQ03	Y2H Prey Pooling	32296183
Intra	NDUFV1	P49821	NDUFV3	Homo sapiens	P56181	Crosslink	30021884
Intra	NDUFV1	P49821	NDUFV3	Homo sapiens	P56181	Anti Tag CoIP	24344204
Intra	NDUFV1	P49821	SETDB1	Homo sapiens	Q15047-2	Validated Y2H	32814053
Intra	NDUFV1	P49821	SETDB1	Homo sapiens	Q15047-2	Y2H Pooling	32814053
Intra	NDUFV1	P49821	SETDB1	Homo sapiens	Q15047-2	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Cytochrome C Oxidase Deficiency Mitochondrial Complex Iv Deficiency Cox Deficiency Cytochrome-C Oxidase Deficiency Disease MC1DN4 Cytochrome-C Oxidase Deficiency MC4DN1 Mitochondrial Complex I Deficiency, Nuclear Type 4 Complex 4 Mitochondrial Respiratory Chain Deficiency Complex Iv Deficiency Mitochondrial Complex 1 Deficiency, Nuclear Type 4 Nuclear Type Mitochondrial Complex I Deficiency 4 Deficiency Of Mitochondrial Respiratory Chain Complex4 MT-C4D Complex Iv Mitochondrial Respiratory Chain Deficiency Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency Mitochondrial Complex Iv Deficiency, Nuclear, Type 1
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
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
Leigh Syndrome With Leukodystrophy	Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy Leigh Disease With Leukodystrophy
Leukodystrophy	Leukodystrophies
Alexander Disease	Alexander'S Disease ALXDRD Alexanders Leukodystrophy Axd Demyelinogenic Leukodystrophy Megalencephaly In Infancy Accompanied By Progressive Spasticity And Dementia Alx Dysmyelinogenic Leukodystrophy Fibrinoid Degeneration Of Astrocytes Leukodystrophy With Rosenthal Fibers Alexander Disease Type Ii Axd Type Ii Alexander Disease Type I Axd Type I Alexanders Disease Alexander'S Leukodystrophy
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
Mitochondrial Metabolism Disease	Abnormality Of Mitochondrial Metabolism Mitochondrial Diseases
Myopathy	Muscular Diseases Myopathies
Fazio-Londe Disease	Fazio-Londe Syndrome Riboflavin Transporter Deficiency Neuronopathy Brown-Vialetto-Van Laere Syndrome Progressive Bulbar Palsy Of Childhood Bulbar Palsy, Progressive, Of Childhood Bvvls Pontobulbar Palsy With Deafness Progressive Bulbar Palsy With Sensorineural Deafness Riboflavin Transporter Deficiency FALOND Bulbar Palsy Progressive Of Childhood Bulbar Palsy Of Childhood, Progressive
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Gracile Syndrome	Finnish Lethal Neonatal Metabolic Syndrome Growth Retardation, Amino Aciduria, Cholestasis, Iron Overload, Lactic Acidosis, And Early Death Flnms Fellman Syndrome Fellman Disease Finnish Lactic Acidosis With Hepatic Hemosiderosis Growth Restriction-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome Growth Delay-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome Lactic Acidosis, Finnish, With Hepatic Hemosiderosis Growth Retardation, Aminoaciduria, Cholestasis, Iron Overload, Lactic Acidosis And Early Death GRACILE
Kearns-Sayre Syndrome	Ophthalmoplegia Mitochondrial Cytopathy KSS Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy Oculocraniosomatic Syndrome Chronic Progressive External Ophthalmoplegia With Myopathy Cpeo With Myopathy Total Ophthalmoplegia Ophthalmoplegia-Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged-Red Fibers Cpeo With Ragged-Red Fibers Oculomotor Paralysis Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia Cpeo With Ragged Red Fibers Ophthalmoplegia Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged Red Fibers Kearns-Sayre Mitochondrial Cytopathy Mitochondrial Myopathies
Spastic Diplegia	Diplegic Infantile Cerebral Palsy Little'S Disease Cerebral Palsy Cerebral Spastic Infantile Paralysis Infantile Diplegic Cerebral Palsy Infantile Spastic Cerebral Palsy Littles Disease Spastic Cerebral Palsy
Leber Hereditary Optic Neuropathy, Modifier Of	Leber Optic Atrophy Leber Hereditary Optic Neuropathy LHON Leber'S Hereditary Optic Neuropathy Leber Optic Atrophy, Susceptibility To Leber'S Optic Atrophy LOAM Loas Leber'S Disease Leber'S Optic Neuropathy Optic Atrophy, Hereditary, Leber Lhon, Modifier Of Optic Atrophy, Leber Type Hereditary Optic Neuroretinopathy Leber Hereditary Optic Atrophy Loa Optic Atrophy Leber Type Leber Hereditary Optic Neuropathy, Modifier Leber Hereditary Optic Neuropathy Susceptibility Modifier Of Leber Hereditary Optic Neuropathy Lebers Hereditary Optic Neuropathy Leber Congenital Amaurosis
Mitochondrial Encephalomyopathy	Mitochondrial Encephalomyopathies Encephalomyopathy, Mitochondrial
Early Myoclonic Encephalopathy	Myoclonic Epilepsy Myoclonic Seizure Epilepsies, Myoclonic Epileptic Seizures - Myoclonic Epileptic Seizures, Myoclonic Myoclonia Epileptica Myoclonic Seizure Disorder Early Myoclonic Encephalopathy With Suppression-Bursts

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09165	NDUFV1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20184	Ndufv1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26688	Ndufv1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	NDUFV1	VGNC	VGNC:75299
Rattus norvegicus	NDUFV1	RGD	RGD:1359247
Mus musculus	NDUFV1	MGD	MGI:107851
Felis catus	NDUFV1	VGNC	VGNC:68448
Canis familiaris	NDUFV1	VGNC	VGNC:43711
Bos taurus	NDUFV1	VGNC	VGNC:31974
Others	NDUFV1	NCBI