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Aliases for NDUFS4 Gene

Aliases for NDUFS4 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit S4 2 3 5
  • 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-AQDQ 3 4
  • CI-18 KDa 3 4
  • CI-AQDQ 3 4
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 4 (18kD) (NADH-Coenzyme Q Reductase) 2
  • Mitochondrial Respiratory Chain Complex I (18-KD Subunit) 3
  • Complex I-18 KDa 4
  • CI-18 3
  • AQDQ 3

External Ids for NDUFS4 Gene

Previous GeneCards Identifiers for NDUFS4 Gene

  • GC05P053020
  • GC05P054286
  • GC05P052826
  • GC05P052872
  • GC05P052892
  • GC05P049829

Summaries for NDUFS4 Gene

Entrez Gene Summary for NDUFS4 Gene

  • This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial complex I deficiencies such as Leigh syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

GeneCards Summary for NDUFS4 Gene

NDUFS4 (NADH:Ubiquinone Oxidoreductase Subunit S4) is a Protein Coding gene. Diseases associated with NDUFS4 include leigh syndrome and mitochondrial complex i deficiency. Among its related pathways are Metabolism and Metformin Pathway, Pharmacodynamics. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity and oxidoreductase activity, acting on NAD(P)H.

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

Regulatory Elements for NDUFS4 Gene

Promoters for NDUFS4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NDUFS4 on UCSC Golden Path with GeneCards custom track

Genomic Location for NDUFS4 Gene

Chromosome:
5
Start:
53,560,623 bp from pter
End:
53,683,341 bp from pter
Size:
122,719 bases
Orientation:
Plus strand

Genomic View for NDUFS4 Gene

Genes around NDUFS4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFS4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFS4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFS4 Gene

Proteins for NDUFS4 Gene

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

    Protein Symbol:
    O43181-NDUS4_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial
    Protein Accession:
    O43181
    Secondary Accessions:
    • Q9BS69

    Protein attributes for NDUFS4 Gene

    Size:
    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

Antibody Products

No data available for DME Specific Peptides for NDUFS4 Gene

Domains & Families for NDUFS4 Gene

Protein Domains for NDUFS4 Gene

Suggested Antigen Peptide Sequences for NDUFS4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O43181

UniProtKB/Swiss-Prot:

NDUS4_HUMAN :
  • Belongs to the complex I NDUFS4 subunit family.
Family:
  • Belongs to the complex I NDUFS4 subunit family.
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.
genes like me logo Genes that share phenotypes with NDUFS4: view

Human Phenotype Ontology for NDUFS4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NDUFS4 Gene

MGI Knock Outs for NDUFS4:

Animal Model Products

miRNA for NDUFS4 Gene

miRTarBase miRNAs that target NDUFS4

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

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

No data available for Gene Ontology (GO) - Cellular Components for NDUFS4 Gene

Pathways & Interactions 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,TAS --
GO:0019933 cAMP-mediated signaling IMP 11165261
GO:0022900 electron transport chain IEA --
GO:0022904 respiratory electron transport chain TAS --
genes like me logo Genes that share ontologies with NDUFS4: view

No data available for SIGNOR curated interactions for NDUFS4 Gene

Drugs & Compounds for NDUFS4 Gene

(29) Drugs for NDUFS4 Gene - From: Novoseek, 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

(40) Additional Compounds for NDUFS4 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
QH2
  • Coenzymes QH2
  • CoQH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • Sulfanediide
  • Sulfide
  • Sulfur
  • Sulphide
18496-25-8
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
NDUFS4
ECgene alternative splicing isoforms for
NDUFS4

Expression for NDUFS4 Gene

mRNA expression in normal human tissues for NDUFS4 Gene

Protein differential expression in normal tissues from HIPED for NDUFS4 Gene

This gene is overexpressed in Brain (15.3) and Heart (12.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with NDUFS4: view

Protein tissue co-expression partners for NDUFS4 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NDUFS4 Gene

Orthologs for NDUFS4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NDUFS4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NDUFS4 35
  • 92.76 (n)
  • 90.86 (a)
NDUFS4 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFS4 35
  • 92.57 (n)
  • 91.43 (a)
NDUFS4 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufs4 35
  • 88.19 (n)
  • 88 (a)
Ndufs4 16
Ndufs4 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NDUFS4 35
  • 99.43 (n)
  • 100 (a)
NDUFS4 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufs4 35
  • 87.05 (n)
  • 88 (a)
oppossum
(Monodelphis domestica)
Mammalia NDUFS4 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFS4 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFS4 35
  • 78.17 (n)
  • 79.58 (a)
NDUFS4 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFS4 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufs4 35
  • 77.58 (n)
  • 79.76 (a)
Str.9005 35
zebrafish
(Danio rerio)
Actinopterygii ndufs4 35
  • 72.26 (n)
  • 81.12 (a)
ndufs4 36
  • 70 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG12203 36
  • 42 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea lpd-5 35
  • 51.69 (n)
  • 50 (a)
lpd-5 36
  • 45 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons FRO1 35
  • 52.8 (n)
  • 44 (a)
rice
(Oryza sativa)
Liliopsida Os07g0585800 35
  • 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

ENSEMBL:
Gene Tree for NDUFS4 (if available)
TreeFam:
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
rs1044692 - 53,683,213(+) TATCC(A/C)CAAAA reference, missense, utr-variant-3-prime
rs567 -- 53,683,267(-) CTGCA(C/T)AGCTG utr-variant-3-prime
rs31302 -- 53,646,633(-) ATCTA(A/G)TAAGT intron-variant
rs31303 -- 53,646,367(-) CGCTC(C/T)CTGGT reference, synonymous-codon
rs31304 -- 53,646,253(-) GGAAC(A/G/T)CCAGT reference, synonymous-codon

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

Variation tolerance for NDUFS4 Gene

Residual Variation Intolerance Score: 58.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.99; 20.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NDUFS4 Gene

HapMap Linkage Disequilibrium report
NDUFS4
Human Gene Mutation Database (HGMD)
NDUFS4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFS4 Gene

Disorders for NDUFS4 Gene

MalaCards: The human disease database

(21) MalaCards diseases for NDUFS4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
mitochondrial complex i deficiency
  • mitochondrial complex 1 deficiency
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
early-onset schizophrenia
  • early onset schizophrenia
leigh-like syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUS4_HUMAN
  • 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:9463323}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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)
NDUFS4
Human Genome Epidemiology (HuGE) Navigator
NDUFS4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDUFS4
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 67
  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. NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement. (PMID: 19364667) Leshinsky-Silver E. … Lerman-Sagie T. (Mol. Genet. Metab. 2009) 3 23
  4. cAMP-dependent protein kinase regulates the mitochondrial import of the nuclear encoded NDUFS4 subunit of complex I. (PMID: 18291624) De Rasmo D. … Papa S. (Cell. Signal. 2008) 3 23
  5. Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I. (PMID: 16478720) Iuso A. … Papa S. (J. Biol. Chem. 2006) 3 23

Products for NDUFS4 Gene

Sources for NDUFS4 Gene

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