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NDUFAF1 - NADH:ubiquinone oxidoreductase complex assembly factor 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51103

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17344420	GOA

Biological Process GO Annotation	Evidence	References	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	References	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.	상품명	신청	Reactivity
HY-P82434	NDUFAF1 Antibody (YA2179)	WB, IHC-P, ICC/IF, FC, IP	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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS09137	NDUFAF1 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	NDUFAF1	NCBI