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Aliases for NDUFS4 Gene

Aliases for NDUFS4 Gene

  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 4, 18kDa (NADH-Coenzyme Q Reductase) 2 3
  • NADH-Ubiquinone Oxidoreductase 18 KDa Subunit 3 4
  • Complex I 18kDa Subunit 2 3
  • Complex I-18 KDa 3 4
  • Complex I-AQDQ 3 4
  • CI-18 KDa 3 4
  • CI-AQDQ 3 4
  • AQDQ 3 6
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 4 (18kD) (NADH-Coenzyme Q Reductase) 2
  • NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 4, Mitochondrial 3
  • Mitochondrial Respiratory Chain Complex I (18-KD Subunit) 3
  • NADH Dehydrogenase (Ubiquinone) Iron-Sulfur Protein 4 3
  • NADH-Coenzyme Q Reductase, 18-KD 3
  • CI-18 3

External Ids for NDUFS4 Gene

Summaries for NDUFS4 Gene

Entrez Gene Summary for NDUFS4 Gene

  • This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), or NADH:ubiquinone oxidoreductase, the first multi-subunit enzyme complex of the mitochondrial respiratory chain. Complex I plays a vital role in cellular ATP production, the primary source of energy for many crucial processes in living cells. It removes electrons from NADH and passes them by a series of different protein-coupled redox centers to the electron acceptor ubiquinone. In well-coupled mitochondria, the electron flux leads to ATP generation via the building of a proton gradient across the inner membrane. Complex I is composed of at least 41 subunits, of which 7 are encoded by the mitochondrial genome and the remainder by nuclear genes. [provided by RefSeq, Jul 2008]

GeneCards Summary for NDUFS4 Gene

NDUFS4 (NADH Dehydrogenase (Ubiquinone) Fe-S Protein 4, 18kDa (NADH-Coenzyme Q Reductase)) is a Protein Coding gene. Diseases associated with NDUFS4 include leigh syndrome with leukodystrophy and leigh syndrome. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot for NDUFS4 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 NDUFS4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFS4 Gene

Genomics for NDUFS4 Gene

Genomic Location for NDUFS4 Gene

53,560,633 bp from pter
53,683,341 bp from pter
122,709 bases
Plus strand

Genomic View for NDUFS4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NDUFS4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFS4 Gene

Regulatory Elements for NDUFS4 Gene

Proteins for NDUFS4 Gene

  • Protein details for NDUFS4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • Q9BS69

    Protein attributes for NDUFS4 Gene

    175 amino acids
    Molecular mass:
    20108 Da
    Quaternary structure:
    • Mammalian complex I is composed of 45 different subunits. This is a component of the iron-sulfur (IP) fragment of the enzyme.

neXtProt entry for NDUFS4 Gene

Proteomics data for NDUFS4 Gene at MOPED

Post-translational modifications for NDUFS4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NDUFS4 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for NDUFS4 Gene

Domains for NDUFS4 Gene

Gene Families for NDUFS4 Gene

  • comI :Mitochondrial respiratory chain complex / Complex I

Protein Domains for NDUFS4 Gene


  • Belongs to the complex I NDUFS4 subunit family.:
    • O43181
genes like me logo Genes that share domains with NDUFS4: view

Function for NDUFS4 Gene

Molecular function for NDUFS4 Gene

GENATLAS Biochemistry: NADH ubiquitine dehydrogenase (Q reductase),18kDa,component of complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),iron-sulfur protein 4,extrinsic domain,mitochondrial
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 NDUFS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008137 contributes_to NADH dehydrogenase (ubiquinone) activity IMP 15038602
GO:0016651 oxidoreductase activity, acting on NAD(P)H --
genes like me logo Genes that share ontologies with NDUFS4: view
genes like me logo Genes that share phenotypes with NDUFS4: view

Animal Models for NDUFS4 Gene

MGI Knock Outs for NDUFS4:

miRNA for NDUFS4 Gene

miRTarBase miRNAs that target NDUFS4

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for NDUFS4 Gene

Localization for NDUFS4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFS4 Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Subcellular locations from

Jensen Localization Image for NDUFS4 Gene COMPARTMENTS Subcellular localization image for NDUFS4 gene
Compartment Confidence
mitochondrion 5
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for NDUFS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I IMP 11112787
GO:0045271 respiratory chain complex I --
genes like me logo Genes that share ontologies with NDUFS4: view

Pathways for NDUFS4 Gene

genes like me logo Genes that share pathways with NDUFS4: view

Gene Ontology (GO) - Biological Process for NDUFS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001932 regulation of protein phosphorylation IMP 11165261
GO:0006120 mitochondrial electron transport, NADH to ubiquinone NAS 9463323
GO:0007420 brain development IMP 14765537
GO:0019933 cAMP-mediated signaling IMP 11165261
GO:0022900 electron transport chain --
genes like me logo Genes that share ontologies with NDUFS4: view

Compounds for NDUFS4 Gene

(8) HMDB Compounds for NDUFS4 Gene

Compound Synonyms Cas Number PubMed IDs
  • 1H-Purin-6-amine flavin dinucleotide
  • Armco iron
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
  • 1,4-Dihydronicotinamide adenine dinucleotide
  • CoQH2

(1) Drugbank Compounds for NDUFS4 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
  • beta-DPNH
606-68-8 target

(62) Novoseek inferred chemical compound relationships for NDUFS4 Gene

Compound -log(P) Hits PubMed IDs
rotenone 92.4 72
1 methyl 4 phenylpyridinium 81.4 16
nadh 74.8 8
mptp 73.2 20
annonacin 72.7 2
genes like me logo Genes that share compounds with NDUFS4: view

Transcripts for NDUFS4 Gene

Unigene Clusters for NDUFS4 Gene

NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFS4 Gene

No ASD Table

Relevant External Links for NDUFS4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for NDUFS4 Gene

mRNA expression in normal human tissues for NDUFS4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NDUFS4 Gene

SOURCE GeneReport for Unigene cluster for NDUFS4 Gene Hs.528222

genes like me logo Genes that share expressions with NDUFS4: view

Orthologs for NDUFS4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NDUFS4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia NDUFS4 36
  • 99.43 (n)
  • 100 (a)
  • 100 (a)
(Bos Taurus)
Mammalia NDUFS4 36
  • 92.76 (n)
  • 90.86 (a)
  • 91 (a)
(Canis familiaris)
Mammalia NDUFS4 36
  • 92.57 (n)
  • 91.43 (a)
  • 90 (a)
(Mus musculus)
Mammalia Ndufs4 36
  • 88.19 (n)
  • 88 (a)
Ndufs4 16
Ndufs4 37
  • 88 (a)
(Monodelphis domestica)
Mammalia NDUFS4 37
  • 89 (a)
(Ornithorhynchus anatinus)
Mammalia NDUFS4 37
  • 72 (a)
(Rattus norvegicus)
Mammalia Ndufs4 36
  • 87.05 (n)
  • 88 (a)
(Gallus gallus)
Aves NDUFS4 36
  • 78.17 (n)
  • 79.58 (a)
  • 81 (a)
(Anolis carolinensis)
Reptilia NDUFS4 37
  • 74 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufs4 36
  • 77.58 (n)
  • 79.76 (a)
Str.9005 36
(Danio rerio)
Actinopterygii ndufs4 36
  • 72.26 (n)
  • 81.12 (a)
ndufs4 37
  • 70 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG12203 37
  • 42 (a)
(Caenorhabditis elegans)
Secernentea lpd-5 36
  • 51.69 (n)
  • 50 (a)
lpd-5 37
  • 45 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons FRO1 36
  • 52.8 (n)
  • 44 (a)
(Oryza sativa)
Liliopsida Os07g0585800 36
  • 48.98 (n)
  • 43.54 (a)
Species with no ortholog for NDUFS4:
  • 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)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NDUFS4 Gene

Gene Tree for NDUFS4 (if available)
Gene Tree for NDUFS4 (if available)

Paralogs for NDUFS4 Gene

No data available for Paralogs for NDUFS4 Gene

Variants for NDUFS4 Gene

Sequence variations from dbSNP and Humsavar for NDUFS4 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs567 -- 53,683,267(-) CTGCA(C/T)AGCTG utr-variant-3-prime
rs31302 -- 53,646,633(-) ATCTA(A/G)TAAGT intron-variant
rs31303 Likely benign 53,646,367(-) CGCTC(C/T)CTGGT reference, synonymous-codon
rs31304 Likely benign 53,646,253(-) GGAAC(G/T)CCAGT reference, synonymous-codon
rs31305 -- 53,646,075(-) TACAA(C/T)GTAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NDUFS4 Gene

Variant ID Type Subtype PubMed ID
dgv6062n71 CNV Loss 21882294
dgv6063n71 CNV Loss 21882294
nsv881604 CNV Loss 21882294
esv5622 OTHER Inversion 19470904
nsv4828 CNV Loss 18451855
esv2670735 CNV Deletion 23128226
esv2678642 CNV Deletion 23128226
dgv6064n71 CNV Loss 21882294
dgv6065n71 CNV Loss 21882294
nsv823073 CNV Gain 20364138
nsv881185 CNV Loss 21882294
nsv830298 CNV Gain 17160897

Relevant External Links for NDUFS4 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

Disorders for NDUFS4 Gene

(2) OMIM Diseases for NDUFS4 Gene (602694)


  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for NDUFS4 Gene

(34) Novoseek inferred disease relationships for NDUFS4 Gene

Disease -log(P) Hits PubMed IDs
mitochondrial complex i deficiency 97.4 41
parkinson disease 80.9 56
leigh syndrome 80.2 9
mitochondrial diseases 77.8 4
lebers hereditary optic neuropathy 75.7 7

Genatlas disease for NDUFS4 Gene

mitochondrial encephalomyopathy,characterized by vomiting,failure to thrive,hypotonia,fatal progressive evolution with normal muscle morphology and without increased lactate concentration

Relevant External Links for NDUFS4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with NDUFS4: view

Publications for NDUFS4 Gene

  1. Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit. (PMID: 9463323) van den Heuvel L. … Smeitink J. (Am. J. Hum. Genet. 1998) 2 3 4 23
  2. A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome. (PMID: 11181577) Petruzzella V. … Papa S. (Hum. Mol. Genet. 2001) 3 23 25
  3. Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndrome. (PMID: 11165261) Papa S. … Smeitink J. (FEBS Lett. 2001) 3 23
  4. Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I. (PMID: 14765537) Budde S.M. … Smeitink J.A. (J. Inherit. Metab. Dis. 2003) 3 23
  5. Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome. (PMID: 12616398) BAcnit P. … RAPtig A. (Hum. Genet. 2003) 3 23

Products for NDUFS4 Gene

Sources for NDUFS4 Gene

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