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Aliases for NDUFS3 Gene

Aliases for NDUFS3 Gene

  • NADH:Ubiquinone Oxidoreductase Core Subunit S3 2 3 5
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 3, 30kDa (NADH-Coenzyme Q Reductase) 2 3
  • NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 3, Mitochondrial 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 30 KDa Subunit 3
  • EC 1.6.99.5 61
  • EC 1.6.99.3 4
  • EC 1.6.5.3 4
  • CI-30 3

External Ids for NDUFS3 Gene

Previous GeneCards Identifiers for NDUFS3 Gene

  • GC11P049512
  • GC11P048478
  • GC11P047632
  • GC11P047564
  • GC11P047544
  • GC11P047601
  • GC11P047301

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:Ubiquinone Oxidoreductase Core Subunit S3) is a Protein Coding gene. Diseases associated with NDUFS3 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 cardiolipin biosynthesis. GO annotations related to this gene include electron carrier activity and oxidoreductase activity, acting on NAD(P)H.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFS3 Gene

Genomics for NDUFS3 Gene

Regulatory Elements for NDUFS3 Gene

Enhancers for NDUFS3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G047506 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.2 -51.8 -51755 14.4 HDGF PKNOX1 WRNIP1 ZFP64 SIN3A FEZF1 ZNF2 FOS JUNB REST FNBP4 NUP160 ENSG00000200090 C1QTNF4 SLC39A13 CELF1 ENSG00000270060 DDB2 PTPMT1 NDUFS3
GH11G047521 1.5 Ensembl ENCODE dbSUPER 12.6 -41.1 -41121 4.8 HDGF PKNOX1 FOXA2 SIN3A FEZF1 YY1 FOS DEK ZNF263 JUNB C1QTNF4 CELF1 NDUFS3 PTPMT1 FAM180B ENSG00000231880 RNU5E-10P C11orf49 ENSG00000270072 RN7SL652P
GH11G047537 1.4 Ensembl ENCODE dbSUPER 12.3 -25.9 -25944 4.4 PKNOX1 INSM2 KLF17 SIN3A FEZF1 RAD21 ZNF2 GLIS2 GATA2 ZNF366 C1QTNF4 NDUFS3 CELF1 PTPMT1 KBTBD4 ENSG00000231880 RNU5E-10P MADD MTCH2 FNBP4
GH11G047498 1.2 Ensembl ENCODE dbSUPER 11.9 -65.9 -65851 1.4 NFIB TAF1 WRNIP1 MAX RAD21 YY1 HNF4G PRDM10 MAFK FOXA1 NDUFS3 PTPMT1 CELF1 RAPSN KBTBD4 RNU5E-10P ENSG00000231880 FAM180B C1QTNF4 MTCH2
GH11G047476 1 ENCODE dbSUPER 11.7 -87.6 -87613 1.5 NFIB TAF1 MAX RAD21 YY1 FOSL1 GATA2 HNF4G PRDM10 FOS RAPSN PTPMT1 CELF1 NDUFS3 C1QTNF4 RNU5E-10P ENSG00000231880 MTCH2 GC11P047482 GC11M054021
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NDUFS3 on UCSC Golden Path with GeneCards custom track

Promoters for NDUFS3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000039704 664 1601 HDGF CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 KLF13 ZNF263

Genomic Location for NDUFS3 Gene

Chromosome:
11
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

Genes around NDUFS3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFS3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFS3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Selected DME Specific Peptides for NDUFS3 Gene

O75489:
  • LTDYGFEG
  • RRILTDY
  • ANWYERE
  • GHPFRKDFPL
  • PFRKDFPLSG

Post-translational modifications for NDUFS3 Gene

  • Ubiquitination at posLast=5656, Lys200, and Lys232
  • Modification sites at PhosphoSitePlus

Other Protein References for NDUFS3 Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for NDUFS3

Domains & Families for NDUFS3 Gene

Gene Families for NDUFS3 Gene

Graphical View of Domain Structure for InterPro Entry

O75489

UniProtKB/Swiss-Prot:

NDUS3_HUMAN :
  • Belongs to the complex I 30 kDa subunit family.
Family:
  • Belongs to the complex I 30 kDa subunit family.
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,IBA 9647766
GO:0009055 electron carrier activity NAS 9647766
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with NDUFS3: view
genes like me logo Genes that share phenotypes with NDUFS3: view

Human Phenotype Ontology for NDUFS3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NDUFS3 Gene

MGI Knock Outs for NDUFS3:

Animal Model Products

No data available for Transcription Factor Targets 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
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 NDUFS3 gene
Compartment Confidence
mitochondrion 5
nucleus 4
cytosol 1

Gene Ontology (GO) - Cellular Components for NDUFS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion NAS,IDA 9647766
GO:0005743 mitochondrial inner membrane IEA --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0005759 mitochondrial matrix TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with NDUFS3: view

Pathways & Interactions 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 TAS --
GO:0021762 substantia nigra development IEP 22926577
GO:0030308 negative regulation of cell growth IMP 16826196
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0045333 cellular respiration IBA --
genes like me logo Genes that share ontologies with NDUFS3: view

No data available for SIGNOR curated interactions for NDUFS3 Gene

Drugs & Compounds for NDUFS3 Gene

(8) Drugs for NDUFS3 Gene - From: DrugBank, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Doxorubicin Approved, Investigational Pharma Enzyme Topo II inhibitor,immunosuppresive antineoplastic antibiotic 1751
Doxil Approved June 1999 Pharma DNA intercalator and TOPO II inhibitor, Topoisomerase 2 Inhibitors 1751
FAD Approved Pharma 0
Ubiquinone-1 Experimental Pharma 0
Ubiquinone-2 Experimental Pharma 0

(5) Additional Compounds for NDUFS3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
QH(2)
QH2
  • Coenzymes QH2
  • CoQH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • Sulfanediide
  • Sulfide
  • Sulfur
  • Sulphide
18496-25-8
Ubiquinol 8
  • Ubiquinol(8)
  • Ubiquinol-8
56275-39-9
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 from GTEx, Illumina, BioGPS, and CGAP SAGE for NDUFS3 Gene

Protein differential expression in normal tissues from HIPED for NDUFS3 Gene

This gene is overexpressed in Heart (9.8), Frontal cortex (7.5), and Brain (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NDUFS3 Gene



Protein tissue co-expression partners for NDUFS3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NDUFS3 Gene:

NDUFS3

SOURCE GeneReport for Unigene cluster for NDUFS3 Gene:

Hs.502528

Evidence on tissue expression from TISSUES for NDUFS3 Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Skin(4.3)
  • Muscle(3.1)
  • Pancreas(3.1)
  • Heart(3)
  • Lung(2.7)
  • Blood(2.2)
  • Kidney(2.2)
  • Stomach(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFS3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
  • skull
Thorax:
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • adrenal gland
  • liver
  • stomach
Limb:
  • foot
  • lower limb
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with NDUFS3: view

Primer 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 NDUFS3 Gene

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 34 35
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia NDUFS3 34 35
  • 90.33 (n)
cow
(Bos Taurus)
Mammalia NDUFS3 34 35
  • 90.03 (n)
mouse
(Mus musculus)
Mammalia Ndufs3 34 16 35
  • 87.15 (n)
rat
(Rattus norvegicus)
Mammalia Ndufs3 34
  • 85.88 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFS3 35
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NDUFS3 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFS3 34 35
  • 76.13 (n)
lizard
(Anolis carolinensis)
Reptilia NDUFS3 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufs3 34
  • 71.41 (n)
LOC394690 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.24382 34
zebrafish
(Danio rerio)
Actinopterygii ndufs3 34 35
  • 72.42 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8655 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006456 34
  • 64.8 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG12079 36 34 35
  • 64.27 (n)
worm
(Caenorhabditis elegans)
Secernentea nuo-2 34 35
  • 61.27 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons nad9 34
  • 57.44 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU04074 34
  • 57.66 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3587 35
  • 52 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1144 34
Species where no ortholog for NDUFS3 was found in the sources mined by GeneCards:
  • 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

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
rs104894270 Pathogenic 47,582,436(+) CTTTC(C/T)GGAAA reference, missense
rs28939714 Pathogenic 47,582,140(+) GAAGA(C/G/T)CTACA reference, missense
rs863224106 Pathogenic 47,579,093(+) TAACA(G/T)GGCGG upstream-variant-2KB, reference, missense
rs863224107 Pathogenic 47,582,409(+) TGACA(-/GA)TTATG reference, frameshift-variant
rs117981655 Uncertain significance 47,584,469(+) AAGCC(C/T)GATGC reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
nsv314 CNV deletion 18451855
nsv509405 CNV insertion 20534489
nsv825872 CNV gain 20364138
nsv832142 CNV loss 17160897

Variation tolerance for NDUFS3 Gene

Residual Variation Intolerance Score: 26.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.87; 18.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NDUFS3 Gene

Human Gene Mutation Database (HGMD)
NDUFS3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFS3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFS3 Gene

Disorders for NDUFS3 Gene

MalaCards: The human disease database

(12) MalaCards diseases for NDUFS3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency
  • mitochondrial complex 1 deficiency
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
tungiasis
  • chigger flea
ethmoid sinus cancer
  • malignant neoplasm of ethmoidal sinus
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NDUFS3

Genetic Association Database (GAD)
NDUFS3
Human Genome Epidemiology (HuGE) Navigator
NDUFS3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDUFS3
genes like me logo Genes that share disorders with NDUFS3: view

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

Publications for NDUFS3 Gene

  1. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  2. 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. (J. Hum. Genet. 2009) 3 46 64
  3. Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)- interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. (PMID: 19463981) Saada A. … Nijtmans L.G. (Am. J. Hum. Genet. 2009) 3 4 64
  4. Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey. (PMID: 18977241) Starr J.M. … Deary I.J. (Mech. Ageing Dev. 2008) 3 46 64
  5. 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 22 64

Products for NDUFS3 Gene

Sources for NDUFS3 Gene

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