NDUFA1 Gene

HGNC Family	Mitochondrial respiratory chain complexes
Name	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
Description	The human NDUFA1 gene codes for an essential component of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. It has been noted that the N-terminal hydrophobic domain has the potential to be folded into an alpha-helix spanning the inner mitochondrial membrane with a C-terminal hydrophilic domain interacting with globular subunits of complex I. The highly conserved two-domain structure suggests that this feature is critical for the protein function and might act as an anchor for the NADH:ubiquinone oxidoreductase complex at the inner mitochondrial membrane. However, the NDUFA1 peptide is one of about 31 components of the `hydrophobic protein` (HP) fraction of complex I which is involved in proton translocation. Thus the NDUFA1 peptide may also participate in that function. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nNDUFA1 is an X‐linked gene that encodes the MWFE protein, a highly conserved, small accessory subunit of mitochondrial complex I. This protein is indispensable for the proper assembly, structural stability, and efficient function of complex I, thereby enabling effective electron transfer and ATP production. Furthermore, studies have revealed species‐specific sequence differences in a key segment of MWFE that underscore the critical need for nuclear–mitochondrial genome compatibility in complex I assembly and overall mitochondrial respiration."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMutations in NDUFA1 have been implicated in various mitochondrial disorders. Several investigations have identified missense changes and other deleterious mutations in this gene that compromise complex I assembly and catalytic activity, thereby leading to respiratory chain deficiencies. These defects have been associated with clinical phenotypes including mitochondrial encephalomyopathy, Leigh syndrome, and early‐onset dementia. Such findings emphasize that disruption of NDUFA1 function impairs cellular bioenergetics through reduced electron transport and ATP synthesis, which in turn contributes to the pathogenesis of diverse neurodegenerative and metabolic conditions."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "3", "end_ref": "6"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its fundamental role in oxidative phosphorylation, altered expression of NDUFA1 has emerged as a potential biomarker of mitochondrial dysfunction in clinical settings. For instance, transcriptomic profiling in patients with left ventricular mechanical dyssynchrony following right ventricular pacing has identified changes in NDUFA1 levels that are linked to disturbances in mitochondrial ATP synthesis and apoptotic processes. These observations further illustrate the broader significance of NDUFA1 in maintaining cellular energy homeostasis and its impact on disease states where energy metabolism is compromised."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Nagendra Yadava, Prasanth Potluri, Erin N Smith, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Species-specific and mutant MWFE proteins. Their effect on the assembly of a functional mammalian mitochondrial complex I."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M202016200"}], "href": "https://doi.org/10.1074/jbc.M202016200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11937507"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11937507"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Adam J Mamelak, Jeanne Kowalski, Kathleen Murphy, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Downregulation of NDUFA1 and other oxidative phosphorylation-related genes is a consistent feature of basal cell carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Exp Dermatol (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.0906-6705.2005.00278.x"}], "href": "https://doi.org/10.1111/j.0906-6705.2005.00278.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15854127"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15854127"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Daniel Fernandez-Moreira, Cristina Ugalde, Roel Smeets, et al. "}, {"type": "b", "children": [{"type": "t", "text": "X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Neurol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ana.21036"}], "href": "https://doi.org/10.1002/ana.21036"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17262856"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17262856"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Prasanth Potluri, Antonio Davila, Eduardo Ruiz-Pesini, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Genet Metab (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ymgme.2008.12.004"}], "href": "https://doi.org/10.1016/j.ymgme.2008.12.004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19185523"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19185523"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Johannes A Mayr, Olaf Bodamer, Tobias B Haack, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Genet Metab (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ymgme.2011.04.010"}], "href": "https://doi.org/10.1016/j.ymgme.2011.04.010"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21596602"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21596602"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Samuli Huttula, Henri Väyrynen, Seppo Helisalmi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "NDUFA1 p.Gly32Arg variant in early-onset dementia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurobiol Aging (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neurobiolaging.2021.09.026"}], "href": "https://doi.org/10.1016/j.neurobiolaging.2021.09.026"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35131137"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35131137"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Haiyan Xu, Jianshu Gao, Fang Wang "}, {"type": "b", "children": [{"type": "t", "text": "Altered mitochondrial expression genes in patients receiving right ventricular apical pacing."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Exp Mol Pathol (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.yexmp.2016.05.005"}], "href": "https://doi.org/10.1016/j.yexmp.2016.05.005"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27177495"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27177495"}]}]}]}
Synonyms	ZNF183, CI-MWFE, MWFE
Proteins	NDUA1_HUMAN
NCBI Gene ID	4694
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

NDUFA1 has 6,134 functional associations with biological entities spanning 8 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) extracted from 122 datasets.

Click the + buttons to view associations for NDUFA1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

NDUFA1 Gene

Functional Associations

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

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by NDUFA1 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of NDUFA1 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 NDUFA1 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 NDUFA1 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 NDUFA1 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 NDUFA1 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 NDUFA1 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 NDUFA1 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 NDUFA1 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 NDUFA1 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 NDUFA1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of NDUFA1 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 NDUFA1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with NDUFA1 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 NDUFA1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of NDUFA1 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 NDUFA1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with NDUFA1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of NDUFA1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing NDUFA1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing NDUFA1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with NDUFA1 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 NDUFA1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing NDUFA1 protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of NDUFA1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with NDUFA1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with NDUFA1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with NDUFA1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by NDUFA1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving NDUFA1 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving NDUFA1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with NDUFA1 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 NDUFA1 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 NDUFA1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with NDUFA1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for NDUFA1 protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at NDUFA1 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 NDUFA1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of NDUFA1 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 NDUFA1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.