NDUFAF1 - NADH:ubiquinone oxidoreductase complex assembly factor 1 Gene

Homo sapiens

Also known as CGI65; CIA30; CGI-65; MC1DN11

Gene ID: 51103 | Gene type: protein coding

About NDUFAF1

Cytogenetic location: 15q15.1 Genomic coordinates (GRCh38): 15:41,387,353-41,403,026 (from NCBI)

This gene has 11 transcripts (splice variants), 201 orthologues and is associated with 2 phenotypes. Ubiquitous expression in adrenal (RPKM 10.5), testis (RPKM 9.8) and 25 other tissues.

Summary

This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) 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. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011]

NDUFAF1 Products(1)

mRNA	Protein	Name
NM_016013.4	NP_057097.2	complex I intermediate-associated protein 30, mitochondrial precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17344420	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in chaperone-mediated protein complex assembly	IDA IDA: Inferred from direct assay	17344420	GOA
involved in mitochondrial respiratory chain complex I assembly	IMP IMP: Inferred from mutant phenotype	16218961	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	16218961	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

NDUFAF1 Protein Structure

CIA30

0
100
200
300
327 a.a.

Protein Preferred Names

Protein Names

complex I intermediate-associated protein 30, mitochondrial

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1

NDUFAF1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82434	NDUFAF1 Antibody (YA2179)	WB, IHC-P, ICC/IF, IP, FC	Human

Related Diseases

Diseases

Alias

Mitochondrial Complex I Deficiency, Nuclear Type 11

MC1DN11	Mitochondrial Complex 1 Deficiency, Nuclear Type 11
Nuclear Type Mitochondrial Complex I Deficiency 11

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

Peroxisome Biogenesis Disorder 4a

PBD4A	Peroxisome Biogenesis Disorder Complementation Group 4
PBD-CG4	Cg4
Pbd-Cg6	Pbd-Cgc
Peroxisome Biogenesis Disorder Complementation Group 6	Peroxisome Biogenesis Disorder Complementation Group C
Peroxisome Biogenesis Disorder, Type 4a

Leukodystrophy

Leukodystrophies

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

Hypoinsulinemic Hypoglycemia With Hemihypertrophy

Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy

HIHGHH

Mitochondrial Complex I Deficiency, Nuclear Type 20

Acyl-Coa Dehydrogenase 9 Deficiency	Acad9 Deficiency
MC1DN20	Mitochondrial Complex I Deficiency Due To Acad9 Deficiency
Nuclear Type Mitochondrial Complex I Deficiency 20	Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of
Mitochondrial Complex 1 Deficiency Due To Acad9 Deficiency	Deficiency Of Acyl-Coa Dehydrogenase Family Member 9
Acyl-Coa Dehydrogenase Family, Member 9, Deficiency

Cardiomyopathy, Infantile Hypertrophic

Infantile Hypertrophic Cardiomyopathy

CMHI

Nuclear Type Mitochondrial Complex I Deficiency

Mc1dn	Mitochondrial Complex I Deficiency, Nuclear Type
Mitochondrial Complex I Deficiency, Nuclear

Mitochondrial Dna Depletion Syndrome 9

MTDPS9	Fatal Infantile Lactic Acidosis
Lactic Acidosis, Fatal Infantile, Formerly	Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Mitochondrial Dna Depletion Syndrome 9 Encephalomyopathic Type With Methylmalonic Aciduria	Mitochondrial Dna Depletion Syndrome, Type 9
Lactic Acidosis, Fatal Infantile

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09137	NDUFAF1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	NDUFAF1	VGNC	VGNC:43691
Bos taurus	NDUFAF1	VGNC	VGNC:31953
Felis catus	NDUFAF1	VGNC	VGNC:80897
Mus musculus	NDUFAF1	MGD	MGI:1916952
Rattus norvegicus	NDUFAF1	RGD	RGD:1306202
Macaca mulatta	NDUFAF1	VGNC	VGNC:84406

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