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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, 7.5kDa 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
  • Complex I-MWFE 3 4
  • CI-MWFE 3 4
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 1 (7.5kD, MWFE) 2
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex 2
  • NADH Oxidoreductase Subunit MWFE 3
  • 1 (7.5kD 2
  • ZNF183 3
  • MWFE) 2
  • 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 Leigh Syndrome. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism. 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

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

Genomics for NDUFA1 Gene

Regulatory Elements for NDUFA1 Gene

Enhancers for NDUFA1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NDUFA1 on UCSC Golden Path with GeneCards custom track

Promoters for NDUFA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NDUFA1 on UCSC Golden Path with GeneCards custom track

Genomic Location for NDUFA1 Gene

119,871,487 bp from pter
119,876,666 bp from pter
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.

neXtProt entry for NDUFA1 Gene

Proteomics data for NDUFA1 Gene at MOPED

Post-translational modifications for NDUFA1 Gene

  • Ubiquitination at Lys 64
  • Modification sites at PhosphoSitePlus

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

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.
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

Animal Model Products

miRNA for NDUFA1 Gene

miRTarBase miRNAs that target NDUFA1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

Jensen Localization Image for NDUFA1 Gene COMPARTMENTS Subcellular localization image for NDUFA1 gene
Compartment Confidence
mitochondrion 5
extracellular 2
nucleus 2
cytosol 1
endoplasmic reticulum 1
lysosome 1
peroxisome 1
plasma membrane 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for NDUFA1 Gene

Pathways & Interactions for NDUFA1 Gene

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

Interacting Proteins for NDUFA1 Gene

Gene Ontology (GO) - Biological Process for NDUFA1 Gene


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
FAD Approved Pharma 0
Ubiquinone-1 Experimental Pharma 0
Ubiquinone-2 Experimental Pharma 0
NADH Nutra Target 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:

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 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, MOPED, and MaxQB for NDUFA1 Gene

SOURCE GeneReport for Unigene cluster for NDUFA1 Gene Hs.534168

mRNA Expression by UniProt/SwissProt for NDUFA1 Gene

Tissue specificity: Primarily expressed in heart and skeletal muscle.
genes like me logo Genes that share expression patterns with NDUFA1: view

Primer Products

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
(Bos Taurus)
Mammalia NDUFA1 35
  • 85.71 (n)
  • 80 (a)
  • 80 (a)
(Canis familiaris)
Mammalia LOC102154035 35
  • 85.71 (n)
  • 81.43 (a)
(Mus musculus)
Mammalia Ndufa1 35
  • 81.43 (n)
  • 82.86 (a)
Ndufa1 16
Ndufa1 36
  • 83 (a)
(Pan troglodytes)
Mammalia NDUFA1 35
  • 99.52 (n)
  • 98.57 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia Ndufa1 35
  • 80.48 (n)
  • 82.86 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 67 (a)
-- 36
  • 66 (a)
(Ornithorhynchus anatinus)
Mammalia NDUFA1 36
  • 73 (a)
(Gallus gallus)
Aves NDUFA1 35
  • 67.62 (n)
  • 72.86 (a)
  • 73 (a)
(Anolis carolinensis)
Reptilia NDUFA1 36
  • 67 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufa1 35
  • 67.14 (n)
  • 68.57 (a)
(Danio rerio)
Actinopterygii ndufa1 35
  • 63.29 (n)
  • 66.67 (a)
ndufa1 36
  • 65 (a)
Species with no ortholog for NDUFA1:
  • 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 Sequence Context AA Info Type
VAR_014485 -
VAR_035099 Mitochondrial complex I deficiency (MT-C1D)
VAR_035100 Mitochondrial complex I deficiency (MT-C1D)
VAR_036173 A colorectal cancer sample
rs748623923 -- 119,875,562(+) ACCTC(A/G/T)GCCTC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv2468e1 CNV Complex 17122850
dgv2469e1 CNV Complex 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)

Relevant External Links for NDUFA1 Gene

Human Gene Mutation Database (HGMD)

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: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency
  • mitochondrial complex 1 deficiency
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
optic nerve disease
  • disorder of optic nerve
leber hereditary optic neuropathy
  • leber optic atrophy
exposure keratitis
  • exposure keratoconjunctivitis
- 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.

Relevant External Links for NDUFA1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) 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 C.C. (Genomics 1996) 2 3 4 23 67
  2. A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease. (PMID: 19185523) Potluri P. … Procaccio V. (Mol. Genet. Metab. 2009) 3 23
  3. X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. (PMID: 17262856) Fernandez-Moreira D. … Arenas J. (Ann. Neurol. 2007) 3 23
  4. Downregulation of NDUFA1 and other oxidative phosphorylation-related genes is a consistent feature of basal cell carcinoma. (PMID: 15854127) Mamelak A.J. … Sauder D.N. (Exp. Dermatol. 2005) 3 23
  5. The NDUFA1 gene product (MWFE protein) is essential for activity of complex I in mammalian mitochondria. (PMID: 10200266) Au H.C. … Scheffler I.E. (Proc. Natl. Acad. Sci. U.S.A. 1999) 3 25

Products for NDUFA1 Gene

Sources for NDUFA1 Gene