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Aliases for NDUFA1 Gene

Aliases for NDUFA1 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit A1 2 3 5
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 1 (7.5kD, MWFE) 2 2
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 1, 7.5kDa 2 3
  • NADH-Ubiquinone Oxidoreductase MWFE Subunit 3 4
  • NADH:Ubiquinone Oxidoreductase (Complex 1) 2 3
  • Complex I MWFE Subunit 2 3
  • Type I Dehydrogenase 2 3
  • CI-MWFE 3 4
  • NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 1 3
  • Complex I-MWFE 4
  • ZNF183 3
  • MWFE 3

External Ids for NDUFA1 Gene

Previous GeneCards Identifiers for NDUFA1 Gene

  • GC0XP113823
  • GC0XP115991
  • GC0XP116980
  • GC0XP117759
  • GC0XP117758
  • GC0XP118787
  • GC0XP118889
  • GC0XP119005
  • GC0XP108498

Summaries for NDUFA1 Gene

Entrez Gene Summary for NDUFA1 Gene

  • 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]

GeneCards Summary for NDUFA1 Gene

NDUFA1 (NADH:Ubiquinone Oxidoreductase Subunit A1) is a Protein Coding gene. Diseases associated with NDUFA1 include Mitochondrial Complex I Deficiency and Leber Hereditary Optic Neuropathy. Among its related pathways are Metformin Pathway, Pharmacodynamics and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot for NDUFA1 Gene

  • Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.

Gene Wiki entry for NDUFA1 Gene

Additional gene information for NDUFA1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFA1 Gene

Genomics for NDUFA1 Gene

GeneHancer (GH) Regulatory Elements for NDUFA1 Gene

Promoters and enhancers for NDUFA1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI119869 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.1 107 4 PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 ZNF213 ZNF143 RNF113A NDUFA1 NKAPP1 UPF3B
GH0XI119753 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 16.8 -114.4 -114435 6.9 HDGF PKNOX1 ARID4B SIN3A DMAP1 IRF4 ZNF48 ZNF121 GLIS2 ZNF143 SOWAHD RNF113A NDUFA1 MIR766 EEF1A1P30 NKAPP1 UPF3B SEPT6 ZBTB33 PIR44405
GH0XI119821 Enhancer 0.7 Ensembl ENCODE 13.2 -49.6 -49634 1.5 FOXA2 RFX1 FOXK2 NBN ATF7 ELF1 LOC100422368 NDUFA1 RNF113A UPF3B RPL39
GH0XI119769 Enhancer 0.6 FANTOM5 12.5 -102.0 -101986 0.4 ZNF316 NFATC3 SP2 ASH1L EMSY RHOXF1 NDUFA1 RNF113A AKAP14 UPF3B SOWAHD GC0XM119788 SNORA69 GC0XM119789
GH0XI119762 Enhancer 0.6 ENCODE 11.8 -108.1 -108101 1.3 USF1 CEBPB ZNF223 CEBPG ELF1 TEAD3 ZNF121 ZFHX2 ATF4 CEBPA NDUFA1 RNF113A UPF3B SLC25A43 SOWAHD GC0XM119788 GC0XM119789 SNORA69
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NDUFA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NDUFA1 gene promoter:

Genomic Locations for NDUFA1 Gene

Genomic Locations for NDUFA1 Gene
5,180 bases
Plus strand

Genomic View for NDUFA1 Gene

Genes around NDUFA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFA1 Gene

Proteins for NDUFA1 Gene

  • Protein details for NDUFA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1
    Protein Accession:

    Protein attributes for NDUFA1 Gene

    70 amino acids
    Molecular mass:
    8072 Da
    Quaternary structure:
    • Complex I is composed of 45 different subunits.

    Three dimensional structures from OCA and Proteopedia for NDUFA1 Gene

neXtProt entry for NDUFA1 Gene

Post-translational modifications for NDUFA1 Gene

Other Protein References for NDUFA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NDUFA1 Gene

Domains & Families for NDUFA1 Gene

Gene Families for NDUFA1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for NDUFA1 Gene


Suggested Antigen Peptide Sequences for NDUFA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the complex I NDUFA1 subunit family.
  • Belongs to the complex I NDUFA1 subunit family.
genes like me logo Genes that share domains with NDUFA1: view

Function for NDUFA1 Gene

Molecular function for NDUFA1 Gene

GENATLAS Biochemistry:
NADH ubiquinone oxidoreductase (Q reductase),7.5kDa,component alpha 1,hydrophobic fraction of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),homologous to bovine MWFE subunit of complex I essential for an active complex I,not mutated in complex I deficiency
UniProtKB/Swiss-Prot Function:
Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.

Gene Ontology (GO) - Molecular Function for NDUFA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS,TAS 9878551
genes like me logo Genes that share ontologies with NDUFA1: view
genes like me logo Genes that share phenotypes with NDUFA1: view

Human Phenotype Ontology for NDUFA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for NDUFA1 Gene

miRTarBase miRNAs that target NDUFA1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFA1 Gene

Localization for NDUFA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFA1 Gene

Mitochondrion inner membrane; Single-pass membrane protein; Matrix side.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NDUFA1 gene
Compartment Confidence
mitochondrion 5
cytosol 5
extracellular 2
nucleus 2
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NDUFA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 16729965
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0005829 cytosol IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with NDUFA1: view

Pathways & Interactions for NDUFA1 Gene

genes like me logo Genes that share pathways with NDUFA1: view

Gene Ontology (GO) - Biological Process for NDUFA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS --
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with NDUFA1: view

No data available for SIGNOR curated interactions for NDUFA1 Gene

Drugs & Compounds for NDUFA1 Gene

(5) Drugs for NDUFA1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
FAD Approved Pharma 0
Ubiquinone-1 Experimental Pharma 0
Ubiquinone-2 Experimental Pharma 0
NAD Pharma Full agonist, Agonist 0

(3) Additional Compounds for NDUFA1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
  • Coenzymes QH2
  • CoQH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
  • Sulfanediide
  • Sulfide
  • Sulfur
  • Sulphide
genes like me logo Genes that share compounds with NDUFA1: view

Transcripts for NDUFA1 Gene

mRNA/cDNA for NDUFA1 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(359) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NDUFA1 Gene

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFA1 Gene

No ASD Table

Relevant External Links for NDUFA1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for NDUFA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NDUFA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NDUFA1 Gene

This gene is overexpressed in Heart - Left Ventricle (x5.3).

Protein differential expression in normal tissues from HIPED for NDUFA1 Gene

This gene is overexpressed in Heart (31.3) and Frontal cortex (16.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NDUFA1 Gene

NURSA nuclear receptor signaling pathways regulating expression of NDUFA1 Gene:


SOURCE GeneReport for Unigene cluster for NDUFA1 Gene:


mRNA Expression by UniProt/SwissProt for NDUFA1 Gene:

Tissue specificity: Primarily expressed in heart and skeletal muscle.

Evidence on tissue expression from TISSUES for NDUFA1 Gene

  • Liver(4.6)
  • Eye(4.3)
  • Muscle(3.7)
  • Heart(3.5)
  • Nervous system(2.9)
  • Kidney(2.3)
  • Intestine(2.1)
  • Spleen(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFA1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
  • skull
  • esophagus
  • heart
  • heart valve
  • lung
  • adrenal gland
  • liver
  • stomach
  • foot
  • lower limb
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with NDUFA1: view

No data available for Protein tissue co-expression partners for NDUFA1 Gene

Orthologs for NDUFA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NDUFA1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia NDUFA1 33 34
  • 99.52 (n)
(Bos Taurus)
Mammalia NDUFA1 33 34
  • 85.71 (n)
(Canis familiaris)
Mammalia LOC102154035 33
  • 85.71 (n)
(Mus musculus)
Mammalia Ndufa1 33 16 34
  • 81.43 (n)
(Rattus norvegicus)
Mammalia Ndufa1 33
  • 80.48 (n)
(Ornithorhynchus anatinus)
Mammalia NDUFA1 34
  • 73 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 67 (a)
-- 34
  • 66 (a)
(Gallus gallus)
Aves NDUFA1 33 34
  • 67.62 (n)
(Anolis carolinensis)
Reptilia NDUFA1 34
  • 67 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufa1 33
  • 67.14 (n)
(Danio rerio)
Actinopterygii ndufa1 33 34
  • 63.29 (n)
Species where no ortholog for NDUFA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NDUFA1 Gene

Gene Tree for NDUFA1 (if available)
Gene Tree for NDUFA1 (if available)

Paralogs for NDUFA1 Gene

(1) SIMAP similar genes for NDUFA1 Gene using alignment to 1 proteins: Pseudogenes for NDUFA1 Gene

genes like me logo Genes that share paralogs with NDUFA1: view

No data available for Paralogs for NDUFA1 Gene

Variants for NDUFA1 Gene

Sequence variations from dbSNP and Humsavar for NDUFA1 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs104894884 pathogenic, Mitochondrial complex I deficiency, Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] 119,871,933(+) G/C coding_sequence_variant, missense_variant
rs104894885 pathogenic, Mitochondrial complex I deficiency, Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] 119,873,312(+) G/A/C coding_sequence_variant, missense_variant, synonymous_variant
rs1801316 benign, not specified, not provided 119,872,005(+) G/A/C/T coding_sequence_variant, missense_variant
rs794726863 pathogenic, Trichothiodystrophy 5, nonphotosensitive 119,870,713(+) G/A upstream_transcript_variant
rs797044914 likely-pathogenic, Inborn genetic diseases 119,873,328(+) T/C coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for NDUFA1 Gene

Variant ID Type Subtype PubMed ID
esv2758888 CNV gain 17122850
nsv7057 CNV insertion 18451855

Variation tolerance for NDUFA1 Gene

Residual Variation Intolerance Score: 64.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.11; 2.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NDUFA1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFA1 Gene

Disorders for NDUFA1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for NDUFA1 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency
  • nadh:q(1) oxidoreductase deficiency
leber hereditary optic neuropathy
  • leber optic atrophy
exposure keratitis
  • exposure keratoconjunctivitis
optic nerve disease
  • disorder of the second nerve
mitochondrial encephalomyopathy
  • mitochondrial encephalomyopathies
- elite association - COSMIC cancer census association via MalaCards


  • Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. {ECO:0000269 PubMed:17262856}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NDUFA1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NDUFA1: view

No data available for Genatlas for NDUFA1 Gene

Publications for NDUFA1 Gene

  1. Isolation, mapping, and genomic structure of an X-linked gene for a subunit of human mitochondrial complex I. (PMID: 8938439) Zhuchenko O … Lee CC (Genomics 1996) 2 3 4 22 58
  2. X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. (PMID: 17262856) Fernandez-Moreira D … Arenas J (Annals of neurology 2007) 3 4 22 58
  3. Identification of a new member (ZNF183) of the Ring finger gene family in Xq24-25. (PMID: 9224902) Frattini A … Vezzoni P (Gene 1997) 3 4 22 58
  4. Accessory subunits are integral for assembly and function of human mitochondrial complex I. (PMID: 27626371) Stroud DA … Ryan MT (Nature 2016) 3 4 58
  5. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A … Kamatani N (Journal of human genetics 2009) 3 44 58

Products for NDUFA1 Gene

Sources for NDUFA1 Gene

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