NDUFAF5 Gene

HGNC Family	Mitochondrial respiratory chain complex assembly factors
Name	NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
Description	The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nNDUFAF5 is a mitochondrial complex I assembly factor that belongs to the family of seven‐β–strand S-adenosylmethionine-dependent methyltransferases. It performs an early and essential modification during complex I biogenesis by catalyzing the hydroxylation of Arg-73 in the NDUFS7 subunit. This post-translational alteration is critical for facilitating the proper modular assembly and stabilization of the holoenzyme, thereby ensuring efficient electron transfer in the mitochondrial respiratory chain."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nPathogenic mutations in NDUFAF5 disrupt its assembly activity and are associated with severe mitochondrial disorders, including complex I deficiency and Leigh syndrome. Clinical and molecular studies have identified a spectrum of mutations—ranging from missense changes to splicing defects—that impair NDUFAF5 function, leading to compromised oxidative phosphorylation. Such defects manifest in early-onset neurodegenerative symptoms and multisystem involvement, underscoring the factor’s vital role in mitochondrial bioenergetics."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "2", "end_ref": "4"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its established role in mitochondrial energy production, emerging evidence suggests that NDUFAF5 (also referred to as C20orf7) may influence cellular processes related to tumorigenesis. In colon cancer, for instance, depletion of NDUFAF5 has been shown to reduce epithelial–mesenchymal transition-mediated cell migration and proliferation, thereby enhancing the anti-cancer effects of 5-fluorouracil. These findings point to a potential dual role for NDUFAF5, wherein its disruption not only leads to bioenergetic deficits but may also contribute to cancer progression, making it a promising target for therapeutic intervention."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Virginie F Rhein, Joe Carroll, Shujing Ding, et al. "}, {"type": "b", "children": [{"type": "t", "text": "NDUFAF5 Hydroxylates NDUFS7 at an Early Stage in the Assembly of Human Complex I."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M116.734970"}], "href": "https://doi.org/10.1074/jbc.M116.734970"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27226634"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27226634"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Mariella T Simon, Shaya S Eftekharian, Alexander E Stover, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Genet Metab (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ymgme.2018.11.001"}], "href": "https://doi.org/10.1016/j.ymgme.2018.11.001"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30473481"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30473481"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "D Brabbing-Goldstein, D Kozlova, L Bazak, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Unique prenatal manifestations of biallelic NDUFAF5 variants: expansion of phenotype."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ultrasound Obstet Gynecol (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/uog.27482"}], "href": "https://doi.org/10.1002/uog.27482"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37718619"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37718619"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Pin-Shiuan Chen, Ni-Chung Lee, Chieh-Ju Sung, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mov Disord (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/mds.29604"}], "href": "https://doi.org/10.1002/mds.29604"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37752895"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37752895"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Hou-Hsien Liu, Chia-Hwa Lee, Yi-Chen Hsieh, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mitochondrial Factor C20orf7 Facilitates the EMT-Mediated Cancer Cell Migration and the Proliferation of Colon Cancer In Vitro and In Vivo."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes (Basel) (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/genes13112111"}], "href": "https://doi.org/10.3390/genes13112111"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "36421786"}], "href": "https://pubmed.ncbi.nlm.nih.gov/36421786"}]}]}]}
Synonyms	BA526K24.2, DJ842G6.1, C20ORF7
Proteins	NDUF5_HUMAN
NCBI Gene ID	79133
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

NDUFAF5 has 5,115 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 109 datasets.

Click the + buttons to view associations for NDUFAF5 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

NDUFAF5 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of NDUFAF5 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of NDUFAF5 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of NDUFAF5 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of NDUFAF5 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of NDUFAF5 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of NDUFAF5 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of NDUFAF5 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of NDUFAF5 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of NDUFAF5 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of NDUFAF5 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of NDUFAF5 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of NDUFAF5 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with NDUFAF5 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with NDUFAF5 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of NDUFAF5 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of NDUFAF5 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of NDUFAF5 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with NDUFAF5 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with NDUFAF5 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of NDUFAF5 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of NDUFAF5 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing NDUFAF5 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing NDUFAF5 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with NDUFAF5 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with NDUFAF5 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of NDUFAF5 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with NDUFAF5 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of NDUFAF5 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by NDUFAF5 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving NDUFAF5 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving NDUFAF5 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with NDUFAF5 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with NDUFAF5 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with NDUFAF5 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with NDUFAF5 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at NDUFAF5 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of NDUFAF5 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of NDUFAF5 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing NDUFAF5 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with NDUFAF5 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.