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Aliases for NDUFS3 Gene

Aliases for NDUFS3 Gene

  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 3, 30kDa (NADH-Coenzyme Q Reductase) 2 3
  • NADH-Ubiquinone Oxidoreductase 30 KDa Subunit 3 4
  • Complex I 30kDa Subunit 2 3
  • Complex I-30kD 3 4
  • CI-30kD 3 4
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 3 (30kD) (NADH-Coenzyme Q Reductase) 2
  • NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 3, Mitochondrial 3
  • NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 3 2
  • NADH Dehydrogenase-Ubiquinone 30 KDa Subunit 3
  • Mitochondrial 2
  • EC 1.6.99.5 64
  • EC 1.6.99.3 4
  • EC 1.6.5.3 4
  • CI-30 3

External Ids for NDUFS3 Gene

Summaries for NDUFS3 Gene

Entrez Gene Summary for NDUFS3 Gene

  • This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.[provided by RefSeq, Apr 2009]

GeneCards Summary for NDUFS3 Gene

NDUFS3 (NADH Dehydrogenase (Ubiquinone) Fe-S Protein 3, 30kDa (NADH-Coenzyme Q Reductase)) is a Protein Coding gene. Diseases associated with NDUFS3 include tungiasis and leigh syndrome. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include electron carrier activity and NADH dehydrogenase activity.

UniProtKB/Swiss-Prot for NDUFS3 Gene

  • Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for 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 (By similarity).

Gene Wiki entry for NDUFS3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFS3 Gene

Genomics for NDUFS3 Gene

Genomic Location for NDUFS3 Gene

Start:
47,565,336 bp from pter
End:
47,584,563 bp from pter
Size:
19,228 bases
Orientation:
Plus strand

Genomic View for NDUFS3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NDUFS3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFS3 Gene

Regulatory Elements for NDUFS3 Gene

Proteins for NDUFS3 Gene

  • Protein details for NDUFS3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75489-NDUS3_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial
    Protein Accession:
    O75489
    Secondary Accessions:
    • B2R9J1
    • B4DFM8
    • Q9UNQ8

    Protein attributes for NDUFS3 Gene

    Size:
    264 amino acids
    Molecular mass:
    30242 Da
    Quaternary structure:
    • Mammalian complex I is composed of 45 different subunits. Interacts with NDUFAF3.

    Alternative splice isoforms for NDUFS3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFS3 Gene

Proteomics data for NDUFS3 Gene at MOPED

Selected DME Specific Peptides for NDUFS3 Gene

Post-translational modifications for NDUFS3 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys56, Lys200, and Lys232

Other Protein References for NDUFS3 Gene

Domains for NDUFS3 Gene

Gene Families for NDUFS3 Gene

HGNC:
  • comI :Mitochondrial respiratory chain complex / Complex I

UniProtKB/Swiss-Prot:

NDUS3_HUMAN
Family:
  • Belongs to the complex I 30 kDa subunit family.:
    • O75489
genes like me logo Genes that share domains with NDUFS3: view

Function for NDUFS3 Gene

Molecular function for NDUFS3 Gene

GENATLAS Biochemistry: NADH ubiquinone oxidoreductase (Q reductase),30kDa,component of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),iron-sulfur protein 3,containing casein kinase 2 phosphorylation site,inner mitochondrial membrane
UniProtKB/Swiss-Prot CatalyticActivity: NADH + ubiquinone + 5 H(+)(In) = NAD(+) + ubiquinol + 4 H(+)(Out)
UniProtKB/Swiss-Prot CatalyticActivity: NADH + acceptor = NAD(+) + reduced acceptor
UniProtKB/Swiss-Prot Function: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for 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 (By similarity).

Enzyme Numbers (IUBMB) for NDUFS3 Gene

Gene Ontology (GO) - Molecular Function for NDUFS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003954 NADH dehydrogenase activity IMP 11112787
GO:0005515 protein binding IPI 15250827
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS 9647766
GO:0009055 electron carrier activity NAS 9647766
GO:0016651 oxidoreductase activity, acting on NAD(P)H --
genes like me logo Genes that share ontologies with NDUFS3: view
genes like me logo Genes that share phenotypes with NDUFS3: view

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for NDUFS3 Gene

Localization for NDUFS3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFS3 Gene

Mitochondrion inner membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NDUFS3 Gene COMPARTMENTS Subcellular localization image for NDUFS3 gene
Compartment Confidence
mitochondrion 5

Gene Ontology (GO) - Cellular Components for NDUFS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005739 mitochondrion NAS 9647766
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0031966 mitochondrial membrane IDA 17209039
genes like me logo Genes that share ontologies with NDUFS3: view

Pathways for NDUFS3 Gene

genes like me logo Genes that share pathways with NDUFS3: view

Gene Ontology (GO) - Biological Process for NDUFS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone NAS 9647766
GO:0021762 substantia nigra development IEP 22926577
GO:0022904 respiratory electron transport chain TAS --
GO:0030308 negative regulation of cell growth IMP 16826196
GO:0044237 cellular metabolic process TAS --
genes like me logo Genes that share ontologies with NDUFS3: view

Compounds for NDUFS3 Gene

(9) HMDB Compounds for NDUFS3 Gene

Compound Synonyms Cas Number PubMed IDs
FAD
  • 1H-Purin-6-amine flavin dinucleotide
146-14-5
Iron
  • Armco iron
7439-89-6
NAD
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
53-84-9
NADH
  • 1,4-Dihydronicotinamide adenine dinucleotide
58-68-4
QH2
  • CoQH2
56275-39-9

(2) Drugbank Compounds for NDUFS3 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Doxorubicin
  • Adria
23214-92-8 enzyme
NADH
  • beta-DPNH
606-68-8 target

(1) Novoseek inferred chemical compound relationships for NDUFS3 Gene

Compound -log(P) Hits PubMed IDs
nadh 67.7 3
genes like me logo Genes that share compounds with NDUFS3: view

Transcripts for NDUFS3 Gene

Unigene Clusters for NDUFS3 Gene

NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFS3 Gene

No ASD Table

Relevant External Links for NDUFS3 Gene

GeneLoc Exon Structure for
NDUFS3
ECgene alternative splicing isoforms for
NDUFS3

Expression for NDUFS3 Gene

mRNA expression in normal human tissues for NDUFS3 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NDUFS3 Gene

SOURCE GeneReport for Unigene cluster for NDUFS3 Gene Hs.502528

genes like me logo Genes that share expressions with NDUFS3: view

Orthologs for NDUFS3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NDUFS3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFS3 36
  • 99.49 (n)
  • 99.62 (a)
NDUFS3 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFS3 36
  • 90.03 (n)
  • 91.34 (a)
NDUFS3 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFS3 36
  • 90.33 (n)
  • 92.37 (a)
NDUFS3 37
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufs3 36
  • 87.15 (n)
  • 87.79 (a)
Ndufs3 16
Ndufs3 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NDUFS3 37
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFS3 37
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufs3 36
  • 85.88 (n)
  • 85.88 (a)
chicken
(Gallus gallus)
Aves NDUFS3 36
  • 76.13 (n)
  • 80.54 (a)
NDUFS3 37
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFS3 37
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.24382 36
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC394690 36
ndufs3 36
  • 71.41 (n)
  • 78.86 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8655 36
zebrafish
(Danio rerio)
Actinopterygii ndufs3 36
  • 72.42 (n)
  • 80.09 (a)
ndufs3 37
  • 75 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006456 36
  • 64.8 (n)
  • 69.83 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG12079 36
  • 64.27 (n)
  • 68.4 (a)
CG12079 37
  • 61 (a)
OneToOne
CG12079 38
  • 75 (a)
worm
(Caenorhabditis elegans)
Secernentea nuo-2 36
  • 61.27 (n)
  • 62.75 (a)
nuo-2 37
  • 30 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons nad9 36
  • 57.44 (n)
  • 56.5 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU04074 36
  • 57.66 (n)
  • 53.15 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1144 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3587 37
  • 52 (a)
OneToOne
Species with no ortholog for NDUFS3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 NDUFS3 Gene

ENSEMBL:
Gene Tree for NDUFS3 (if available)
TreeFam:
Gene Tree for NDUFS3 (if available)

Paralogs for NDUFS3 Gene

genes like me logo Genes that share paralogs with NDUFS3: view

No data available for Paralogs for NDUFS3 Gene

Variants for NDUFS3 Gene

Sequence variations from dbSNP and Humsavar for NDUFS3 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs9600 - 47,584,432(+) ACCCC(A/C)GGAGA missense, reference
rs13592 -- 47,582,356(+) CTGGG(A/G)CATGT reference, missense
rs2030166 -- 47,581,177(+) TTAGA(C/T)GGAAT intron-variant
rs2233357 -- 47,582,003(+) AGGTT(C/T)AGAAT intron-variant
rs2233358 -- 47,582,275(+) GACTA(C/T)GGGAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NDUFS3 Gene

Variant ID Type Subtype PubMed ID
nsv832142 CNV Loss 17160897
nsv314 CNV Loss 18451855
nsv825872 CNV Gain 20364138
nsv509405 CNV Insertion 20534489

Relevant External Links for NDUFS3 Gene

HapMap Linkage Disequilibrium report
NDUFS3
Human Gene Mutation Database (HGMD)
NDUFS3

Disorders for NDUFS3 Gene

(2) OMIM Diseases for NDUFS3 Gene (603846)

(1) University of Copenhagen DISEASES for NDUFS3 Gene

Relevant External Links for NDUFS3

Genetic Association Database (GAD)
NDUFS3
Human Genome Epidemiology (HuGE) Navigator
NDUFS3
genes like me logo Genes that share disorders with NDUFS3: view

No data available for UniProtKB/Swiss-Prot for NDUFS3 Gene

Publications for NDUFS3 Gene

  1. Coupling mitochondrial respiratory chain to cell death: an essential role of mitochondrial complex I in the interferon-beta and retinoic acid-induced cancer cell death. (PMID: 16826196) Huang G. … Cao X. (Cell Death Differ. 2007) 3 23
  2. Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. (PMID: 14729820) BAcnit P. … Rustin P. (J. Med. Genet. 2004) 3 23
  3. cDNA sequence and chromosomal localization of the remaining three human nuclear encoded iron sulphur protein (IP) subunits of complex I: the human IP fraction is completed. (PMID: 9647766) Loeffen J. … Smeitink J. (Biochem. Biophys. Res. Commun. 1998) 3 4
  4. Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain. (PMID: 9763677) Emahazion T. … Brookes A.J. (Cytogenet. Cell Genet. 1998) 2 3
  5. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PMID: 10931946) Hu R.-M. … Chen J.-L. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3 4

Products for NDUFS3 Gene

Sources for NDUFS3 Gene

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