NDUFAF3 - NADH:ubiquinone oxidoreductase complex assembly factor 3 Gene

Also Known as 2P1; E3-3; C3orf60; MC1DN18

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 25915

About NDUFAF3

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:49,020,452-49,023,495 (from NCBI)

This gene has 6 transcripts (splice variants), 191 orthologues and is associated with 3 phenotypes. Broad expression in testis (RPKM 52.4), fat (RPKM 20.6) and 24 other tissues.

Summary

This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the Oxidative Phosphorylation system. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2009]

NDUFAF3 Products (4)

mRNA	Protein	Name
NM_199069.2	NP_951032.1	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 isoform a precursor
NM_199070.2	NP_951033.1	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 isoform b
NM_199073.2	NP_951047.1	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 isoform b
NM_199074.2	NP_951056.1	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19463981	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mitochondrial respiratory chain complex I assembly	IMP IMP: Inferred from mutant phenotype	19463981	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	19463981	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

NDUFAF3 Protein Structure

DUF498

0
100
184 a.a.

Protein Preferred Names	Protein Names
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3

NDUFAF3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	NDUFAF3	Q9BU61	AGTRAP	Homo sapiens	Q6RW13-2	Y2H Prey Pooling	32296183
Intra	NDUFAF3	Q9BU61	AGTRAP	Homo sapiens	Q6RW13-2	Y2H Array	32296183
Intra	NDUFAF3	Q9BU61	RNF146	Homo sapiens	Q9NTX7-2	Validated Y2H	32296183
Intra	NDUFAF3	Q9BU61	RNF146	Homo sapiens	Q9NTX7-2	Y2H Array	32296183
Intra	NDUFAF3	Q9BU61	RNF146	Homo sapiens	Q9NTX7-2	Y2H Prey Pooling	32296183
Intra	NDUFAF3	Q9BU61	CABP2	Homo sapiens	Q9NPB3	Validated Y2H	32296183
Intra	NDUFAF3	Q9BU61	UHMK1	Homo sapiens	Q8TAS1-2	Y2H Prey Pooling	32296183
Intra	NDUFAF3	Q9BU61	UHMK1	Homo sapiens	Q8TAS1-2	Y2H Array	32296183
Intra	NDUFAF3	Q9BU61	MBD3L1	Homo sapiens	Q8WWY6	Y2H Array	32296183
Intra	NDUFAF3	Q9BU61	MBD3L1	Homo sapiens	Q8WWY6	Y2H Prey Pooling	32296183
Intra	NDUFAF3	Q9BU61	RBCK1	Homo sapiens	Q9BYM8	Y2H Prey Pooling	25416956
Intra	NDUFAF3	Q9BU61	RBCK1	Homo sapiens	Q9BYM8	Validated Y2H	25416956
Intra	NDUFAF3	Q9BU61	RBCK1	Homo sapiens	Q9BYM8	Y2H Array	25416956
Intra	NDUFAF3	Q9BU61	NDUFAF4	Homo sapiens	Q9P032	BN-PAGE	19688755
Intra	NDUFAF3	Q9BU61	NDUFAF4	Homo sapiens	Q9P032	Validated Y2H	32296183
Intra	NDUFAF3	Q9BU61	NDUFAF4	Homo sapiens	Q9P032	Anti Tag CoIP	24344204
Intra	NDUFAF3	Q9BU61	KRT27	Homo sapiens	Q7Z3Y8	Y2H Prey Pooling	32296183
Intra	NDUFAF3	Q9BU61	KRT27	Homo sapiens	Q7Z3Y8	Y2H Array	32296183
Intra	NDUFAF3	Q9BU61	CYSRT1	Homo sapiens	A8MQ03	Y2H Prey Pooling	32296183
Intra	NDUFAF3	Q9BU61	CYSRT1	Homo sapiens	A8MQ03	Y2H Array	32296183
Intra	NDUFAF3	Q9BU61	GOLGA6L9	Homo sapiens	A6NEM1	Y2H Array	32296183
Intra	NDUFAF3	Q9BU61	GOLGA6L9	Homo sapiens	A6NEM1	Y2H Prey Pooling	32296183
Intra	NDUFAF3	Q9BU61	SNRPA	Homo sapiens	P09012	Y2H Prey Pooling	25416956
Intra	NDUFAF3	Q9BU61	SNRPA	Homo sapiens	P09012	Validated Y2H	25416956
Intra	NDUFAF3	Q9BU61	SNRPA	Homo sapiens	P09012	Y2H Prey Pooling	32296183
Intra	NDUFAF3	Q9BU61	SNRPA	Homo sapiens	P09012	Y2H Array	25416956
Intra	NDUFAF3	Q9BU61	SNRPA	Homo sapiens	P09012	Y2H Array	32296183
Intra	NDUFAF3	Q9BU61	INCA1	Homo sapiens	Q0VD86	Y2H Array	32296183
Intra	NDUFAF3	Q9BU61	INCA1	Homo sapiens	Q0VD86	Y2H Prey Pooling	32296183
Intra	NDUFAF3	Q9BU61	POU2AF1	Homo sapiens	Q16633	Y2H Array	32296183
Intra	NDUFAF3	Q9BU61	POU2AF1	Homo sapiens	Q16633	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Mitochondrial Complex I Deficiency, Nuclear Type 18	MC1DN18 Mitochondrial Complex 1 Deficiency, Nuclear Type 18 Nuclear Type Mitochondrial Complex I Deficiency 18
Leigh Syndrome With Cardiomyopathy	Cardiomyopathy With Hypotonia Due To Cytochrome C Oxidase Deficiency Cardiomyopathy With Myopathy Due To Cox Deficiency Leigh Disease With Myopathy
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
Premature Ovarian Failure 18	POF18 Primary Ovarian Insufficiency 18 Ovarian Failure, Premature, Type 18
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
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic Cardiomyopathy 16 CMH16 Cardiomyopathy, Hypertrophic, 16 Cardiomyopathy Familial Hypertrophic 16 Cardiomyopathy, Familial Hypertrophic 16 Cardiomyopathy, Hypertrophic, Familial, Type 16
Cardiomyopathy, Familial Hypertrophic, 18	Hypertrophic Cardiomyopathy 18 CMH18 Cardiomyopathy, Hypertrophic, 18 Cardiomyopathy Familial Hypertrophic 18 Cardiomyopathy, Familial Hypertrophic 18 Cardiomyopathy, Hypertrophic, Familial, Type 18
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic Cardiomyopathy 17 CMH17 Cardiomyopathy, Hypertrophic, 17 Cardiomyopathy Familial Hypertrophic 17 Cardiomyopathy, Familial Hypertrophic 17 Cardiomyopathy, Hypertrophic, Familial, Type 17
Retinitis Pigmentosa 25	RP25 Retinitis Pigmentosa-25 Retinitis Pigmentosa, Type 25
Myopathy With Extrapyramidal Signs	Proximal Myopathy With Extrapyramidal Signs MPXPS Myopathy, With Extrapyramidal Signs
Lynch Syndrome I	Lynch Syndrome 1 Colorectal Cancer, Hereditary Nonpolyposis, Type 1 HNPCC1 Fcc1 Lynch Syndrome Ii Colon Cancer, Familial Nonpolyposis, Type 1 Coca1 Familial Nonpolyposis Colon Cancer Type 1 Hereditary Nonpolyposis Colorectal Cancer Type 1 Hereditary Non-Polyposis Colorectal Cancer 1 Hereditary Non-Polyposis Colorectal Cancer 3 Hnpcc3 Lynch Cancer Family Syndrome Lynch Syndrome Lynch Syndrome Type I Lynch Syndrome Type Ii Cancer, Colorectal, Nonpolyposis, Hereditary, Type 1 Hereditary Nonpolyposis Colorectal Cancer Colorectal Cancer, Hereditary Nonpolyposis, Type 3 Hereditary Non-Polyposis Colon Cancer Type 2
Primary Progressive Multiple Sclerosis	Ppms Primary-Progressive Ms Multiple Sclerosis, Primary Progressive
Leukodystrophy	Leukodystrophies
Myasthenic Syndrome, Congenital, 5	Endplate Acetylcholinesterase Deficiency Congenital Myasthenic Syndrome 5 CMS5 Ead Engel Congenital Myasthenic Syndrome Myasthenic Syndrome, Congenital, Engel Type Cms Ic Congenital Myasthenic Syndrome Type Ic Congenital Myasthenic Syndrome Type Ic, Formerly Cms1c, Formerly Cms Ic, Formerly Congenital Myasthenic Syndrome Engel Type End Plate Acetylcholinesterase Deficiency Synaptic Congenital Myasthenic Syndromes Cms1c Cmse Congenital Myasthenic Syndrome Type 1c End-Plate Acetylcholinesterase Deficiency Myasthenic Syndrome, Congenital, Type 5
Transposition Of The Great Arteries, Dextro-Looped	Transposition Of The Great Arteries DTGA1 Dextro-Looped Transposition Of The Great Arteries DTGA Congenitally Uncorrected Transposition Of The Great Arteries Congenitally Uncorrected Transposition Of The Great Vessels D-Tga Isolated Ventriculoarterial Discordance Ventriculoarterial Discordance With Atrioventricular Concordance Dextro-Transposition Of The Great Arteries Transposition Of The Great Vessels Great Vessels Transposition Transposition Of The Great Arteries, Dextro-Looped 1 Arteries, Great, Transposition, Dextro-Looped Ventriculoarterial Discordance, Isolated D-Transposition Of The Great Arteries Complete Transposition Tga Tgv Transposition Of Great Vessels Transposition Of The Great Arteries Dextro-Looped 1 Dextro-Looped Transposition Of The Great Arteries 1 Discordant Ventriculoarterial Connection Complete Transposition Of Great Vessels Great Vessels Complete Transposition Total Great Vessel Transposition Transposition Of Great Arteries Complete Tga - [Transposition Of The Great Arteries] Tga - [Transposition Of Great Arteries] Tgv - [Transposition Of Great Vessels] Transposition Of Great Vessels Nos Transposed Vessels Nos
Leukoencephalopathy With Vanishing White Matter	Cree Leukoencephalopathy Vanishing White Matter Disease Ovarioleukodystrophy Vanishing White Matter Leukodystrophy Childhood Ataxia With Central Nervous System Hypomyelinization Cach Cach Syndrome Myelinosis Centralis Diffusa VWM Cle Childhood Ataxia With Central Nervous System Hypomyelination Childhood Ataxia With Diffuse Central Nervous System Hypomyelination Cach/Vwm Cach/Vwm Syndrome Childhood Ataxia With Central Nervous System Hypomyelination/Vanishing White Matter Cree Leukoencehalopathy Late Infantile Cach Syndrome Juvenile Or Adult Cach Syndrome Congenital Or Early Infantile Cach Syndrome Leukodystrophy With Vanishing White Matter
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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09139	NDUFAF3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22013	Ndufaf3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28531	Ndufaf3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	NDUFAF3	VGNC	VGNC:43693
Felis catus	NDUFAF3	VGNC	VGNC:63757
Mus musculus	NDUFAF3	MGD	MGI:1913956
Rattus norvegicus	NDUFAF3	RGD	RGD:708545
Macaca mulatta	NDUFAF3	VGNC	VGNC:75055
Bos taurus	NDUFAF3	VGNC	VGNC:31955
Others	NDUFAF3	NCBI