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NDUFAF4 - NADH:ubiquinone oxidoreductase complex assembly factor 4 Gene

Also Known as My013; C6orf66; HRPAP20; HSPC125; MC1DN15; bA22L21.1

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 29078

About NDUFAF4

Cytogenetic location: 6q16.1 Genomic coordinates (GRCh38): 6:96,889,315-96,897,891 (from NCBI)

This gene has 3 transcripts (splice variants), 205 orthologues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 11.9), brain (RPKM 11.8) and 25 other tissues.

Summary

NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene are a cause of mitochondrial complex I deficiency. [provided by RefSeq, Oct 2009]

NDUFAF4 Products (1)

mRNA	Protein	Name
NM_014165.4	NP_054884.1	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	19463981	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in defense response to virus	IMP IMP: Inferred from mutant phenotype	33635491	GOA
involved in mitochondrial respiratory chain complex I assembly	IMP IMP: Inferred from mutant phenotype	18179882	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in mitochondrial membrane	IDA IDA: Inferred from direct assay	19463981	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	18179882	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

NDUFAF4 Protein Structure

UPF0240

0
100
175 a.a.

Protein Preferred Names	Protein Names
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4

NDUFAF4 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	NDUFAF4	Q9P032	NDUFAF3	Homo sapiens	Q9BU61-2	Y2H Prey Pooling	25416956
Intra	NDUFAF4	Q9P032	NDUFAF3	Homo sapiens	Q9BU61-2	Validated Y2H	25910212
Intra	NDUFAF4	Q9P032	NDUFAF3	Homo sapiens	Q9BU61-2	Y2H Array	25910212
Intra	NDUFAF4	Q9P032	NDUFAF3	Homo sapiens	Q9BU61-2	Y2H Array	25416956
Intra	NDUFAF4	Q9P032	NDUFAF3	Homo sapiens	Q9BU61-2	Y2H Bait-Prey Pool	25910212
Intra	NDUFAF4	Q9P032	NDUFAF3	Homo sapiens	Q9BU61	Anti Tag CoIP	27499296
Intra	NDUFAF4	Q9P032	NDUFAF3	Homo sapiens	Q9BU61	Y2H Prey Pooling	32296183
Intra	NDUFAF4	Q9P032	NDUFAF3	Homo sapiens	Q9BU61	Y2H Array	32296183
Intra	NDUFAF4	Q9P032	NDUFAF3	Homo sapiens	Q9BU61	Anti Tag CoIP	33961781
Intra	NDUFAF4	Q9P032	WFS1	Homo sapiens	O76024	Y2H Array	32814053
Intra	NDUFAF4	Q9P032	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
Intra	NDUFAF4	Q9P032	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053
Intra	NDUFAF4	Q9P032	GRN	Homo sapiens	P28799	Validated Y2H	32814053
Intra	NDUFAF4	Q9P032	GRN	Homo sapiens	P28799	Y2H Array	32814053
Intra	NDUFAF4	Q9P032	GRN	Homo sapiens	P28799	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

NDUFAF4 抗体

製品番号	製品名	アプリケーション	反応性
HY-P83557	NDUFAF4 Antibody (YA3302)	WB, ICC/IF, IP	Human
HY-P83557A	NDUFAF4 Antibody (YA3302)(PBS only)	WB, ICC/IF, IP	Human

関連疾患

Diseases	Alias
Mitochondrial Complex I Deficiency, Nuclear Type 15	MC1DN15 Mitochondrial Complex 1 Deficiency, Nuclear Type 15 Nuclear Type Mitochondrial Complex I Deficiency 15
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
Stomatitis
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
Charcot-Marie-Tooth Disease, Type 4k	Charcot-Marie-Tooth Disease Type 4k CMT4K Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4k Charcot-Marie-Tooth Neuropathy, Demyelinating, Autosomal Recessive, Type 4k Surf1-Related Charcot-Marie-Tooth Disease Type 4 Surf1-Related Cmt4 Surf1-Related Severe Demyelinating Charcot-Marie-Tooth Disease Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4k Autosomal Recessive Demyelinating Charcot-Marie-Tooth Neuropathy Type 4k Charcot-Marie-Tooth Disease 4k Charcot-Marie-Tooth Disease, Demyelinating, Type 4k Charcot-Marie-Tooth Neuropathy, Type 4k
Leukodystrophy	Leukodystrophies
Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency	Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency Fatal Infantile Cox Deficiency Fatal Infantile Cytochrome C Oxidase Deficiency Fatal Infantile Encephalocardiomyopathy
Myopathy	Muscular Diseases Myopathies
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

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 (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS09140	NDUFAF4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Felis catus	NDUFAF4	VGNC	VGNC:102475
Mus musculus	NDUFAF4	MGD	MGI:1915743
Macaca mulatta	NDUFAF4	VGNC	VGNC:74997
Bos taurus	NDUFAF4	VGNC	VGNC:31956
Rattus norvegicus	NDUFAF4	RGD	RGD:735162
Canis familiaris	NDUFAF4	VGNC	VGNC:43694
Others	NDUFAF4	NCBI