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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NDUFS3 Gene

protein-coding   GIFtS: 65
GCID: GC11P047587

NADH Dehydrogenase (Ubiquinone) Fe-S Protein 3, 30kDa (NADH-Coenzyme...

(Previous name: NADH dehydrogenase (ubiquinone) Fe-S protein 3 (30kD) (NADH-coenzyme...)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
NADH Dehydrogenase (Ubiquinone) Fe-S Protein 3, 30kDa (NADH-Coenzyme Q
Reductase)1 2
     NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 31
Complex I 30kDa Subunit1 2     CI-302
Complex I-30kD2 3     NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 3, Mitochondrial2
CI-30kD2 3     NADH Dehydrogenase-Ubiquinone 30 KDa Subunit2
NADH-Ubiquinone Oxidoreductase 30 KDa Subunit2 3     EC 1.6.5.33
mitochondrial1     EC 1.6.99.33
NADH Dehydrogenase (Ubiquinone) Fe-S Protein 3 (30kD) (NADH-Coenzyme Q
Reductase)1
     EC 1.6.99.58

External Ids:    HGNC: 77101   Entrez Gene: 47222   Ensembl: ENSG000002136197   OMIM: 6038465   UniProtKB: O754893   

Export aliases for NDUFS3 gene to outside databases

Previous GC identifers: GC11P049512 GC11P048478 GC11P047632 GC11P047564 GC11P047544 GC11P047601 GC11P047301


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 mitochondrial dna deletion syndromes, and among its related super-pathways are Electron Transport Chain and Metabolic pathways. GO annotations related to this gene include NADH dehydrogenase activity and electron carrier activity.

UniProtKB/Swiss-Prot: NDUS3_HUMAN, O75489
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)

Gene Wiki entry for NDUFS3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_009237.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NDUFS3 gene promoter:
         ER-alpha   C/EBPbeta   GATA-3   AP-1   ATF-2   Nkx2-5   C/EBPalpha   MEF-2A   aMEF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNDUFS3 promoter sequence
   Search SABiosciences Chromatin IP Primers for NDUFS3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NDUFS3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p11.11   Ensembl cytogenetic band:  11p11.2   HGNC cytogenetic band: 11p11.11

NDUFS3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDUFS3 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P047587:  view genomic region     (about GC identifiers)

Start:
47,586,888 bp from pter      End:
47,606,115 bp from pter
Size:
19,228 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NDUS3_HUMAN, O75489 (See protein sequence)
Recommended Name: NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial precursor  
Size: 264 amino acids; 30242 Da
Subunit: Mammalian complex I is composed of 45 different subunits. Interacts with NDUFAF3
Subcellular location: Mitochondrion inner membrane
Secondary accessions: B2R9J1 Q9UNQ8

Explore the universe of human proteins at neXtProt for NDUFS3: NX_O75489

Explore proteomics data for NDUFS3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75489

  • 4/5 DME Specific Peptides for NDUFS3 (O75489) (see all 5)
     ANWYERE  RRILTDY  LTDYGFEG  PFRKDFPLSG 

    NDUFS3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NDUFS3 Protein Expression
    REFSEQ proteins: NP_004542.1  
    ENSEMBL proteins: 
     ENSP00000263774   ENSP00000433753   ENSP00000432099   ENSP00000431588   ENSP00000433405  
     ENSP00000434970  
    Reactome Protein details: O75489
    Human Recombinant Protein Products for NDUFS3: 
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    Cloud-Clone Corp. Proteins for NDUFS3 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion NAS9647766
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005747mitochondrial respiratory chain complex I NAS9878551
    GO:0031966mitochondrial membrane IDA17209039

    NDUFS3 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    comI: Mitochondrial respiratory chain complex / Complex I

    3 InterPro protein domains:
     IPR010218 NADH_DH_suC
     IPR001268 NADH_UbQ_OxRdtase_30kDa_su
     IPR020396 NADH_UbQ_OxRdtase_CS

    Graphical View of Domain Structure for InterPro Entry O75489

    ProtoNet protein and cluster: O75489

    1 Blocks protein domain: IPB001268 NADH dehydrogenase (ubiquinone)

    UniProtKB/Swiss-Prot: NDUS3_HUMAN, O75489
    Similarity: Belongs to the complex I 30 kDa subunit family


    NDUFS3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NDUS3_HUMAN, O75489
    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)
    Catalytic activity: NADH + ubiquinone + 5 H(+)(In) = NAD(+) + ubiquinol + 4 H(+)(Out)
    Catalytic activity: NADH + acceptor = NAD(+) + reduced acceptor

         Genatlas biochemistry entry for NDUFS3:
    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

         Enzyme Numbers (IUBMB): EC 1.6.99.31 EC 1.6.99.52 EC 1.6.5.31

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003954NADH dehydrogenase activity IMP11112787
    GO:0005515protein binding IPI15250827
    GO:0008137NADH dehydrogenase (ubiquinone) activity NAS9647766
    GO:0009055electron carrier activity NAS9647766
    GO:0016651oxidoreductase activity, acting on NAD(P)H ----
         
    NDUFS3 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ndufs3):
     cardiovascular system  growth/size  hematopoietic system  homeostasis/metabolism  mortality/aging 

    NDUFS3 for phenotypes           About GeneDecksing

    Animal Models:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NDUFS3 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NDUFS3 About                                                                                                See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.0.81
    Parkinson's disease0.61
    Respiratory electron transport0.81
    Oxidative phosphorylation0.51
    Electron Transport Chain0.75
    Huntington's disease0.47
    The citric acid (TCA) cycle and respiratory electron transport0.72
    Alzheimer's disease0.46
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Doxorubicin Pathway, Pharmacokinetics
    Doxorubicin Pathway, Pharmacokinetics0.43
    4D-myo-inositol (1,3,4)-trisphosphate biosynthesis
    3-phosphoinositide degradation0.33

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for NDUFS3
        Electron Transport Chain
    Oxidative phosphorylation
    3-phosphoinositide degradation

    4        Reactome Pathways for NDUFS3
        Respiratory electron transport
    Metabolism
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport

    1 PharmGKB Pathway for NDUFS3
        Doxorubicin Pathway, Pharmacokinetics

    5/6         Kegg Pathways  (Kegg details for NDUFS3) (see all 6):
        Oxidative phosphorylation
    Metabolic pathways
    Non-alcoholic fatty liver disease (NAFLD)
    Alzheimer's disease
    Parkinson's disease


    NDUFS3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NDUFS3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/310 Interacting proteins for NDUFS3 (O754891, 2, 3 ENSP000002637744) via UniProtKB, MINT, STRING, and/or I2D (see all 310)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NDUFS2O753061, 2, 3, ENSP000003569724EBI-1224896,EBI-1224806 MINT-8079030 I2D: score=1 STRING: ENSP00000356972
    NDUFA8P519702, 3, ENSP000003628734MINT-8088857 I2D: score=1 STRING: ENSP00000362873
    NDUFA9Q167952, 3, ENSP000002665444MINT-8079030 MINT-4981243 I2D: score=2 STRING: ENSP00000266544
    NDUFAF3Q9BU612, 3, ENSP000003230764MINT-8079030 I2D: score=1 STRING: ENSP00000323076
    NDUFB6O951392, 3, ENSP000003691764MINT-4981243 I2D: score=2 STRING: ENSP00000369176
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006120mitochondrial electron transport, NADH to ubiquinone NAS9647766
    GO:0022904respiratory electron transport chain TAS--
    GO:0030308negative regulation of cell growth IMP16826196
    GO:0044237cellular metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    NDUFS3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NDUFS3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for NDUFS3 (NDUS3)

    9 HMDB Compounds for NDUFS3    About this table
    CompoundSynonyms CAS #PubMed Ids
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    IronArmco iron (see all 19)7439-89-6--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    QH2CoQH2 (see all 5)56275-39-9--
    SulfideSulfide (see all 4)18496-25-8--
    Ubiquinol 8ubiquinol-8 (see all 2)56275-39-9--
    Ubiquinone Q1Coenzyme Q (see all 9)727-81-1--
    Ubiquinone Q22-(3,7-dimethyl-2,6-octadienyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione (see all 7)606-06-4--

    2 DrugBank Compounds for NDUFS3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    DoxorubicinAdria (see all 4)23214-92-8enzyme--9618942 12688675 2850270
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423

    1 Novoseek inferred chemical compound relationship for NDUFS3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nadh 67.7 5 16826196 (1), 19441803 (1), 15748282 (1)

    Search CenterWatch for drugs/clinical trials and news about NDUFS3 / NDUS3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for NDUFS3 gene: 
    NM_004551.2  

    Unigene Cluster for NDUFS3:

    NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
    Hs.502528  [show with all ESTs]
    Unigene Representative Sequence: BG115841
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000533507(uc001nft.3) ENST00000263774(uc001nga.2) ENST00000529276
    ENST00000528192 ENST00000530295 ENST00000534208 ENST00000534716(uc010rhn.1)
    ENST00000533105 ENST00000524568 ENST00000531351 ENST00000525378 ENST00000525212
    ENST00000527178

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    Additional mRNA sequence: 

    AF067139.1 AF100743.1 AK223255.1 AK294167.1 AK313802.1 AL135819.1 BC000617.2 

    14 DOTS entries:

    DT.75147342  DT.100813693  DT.100813692  DT.100662066  DT.95148214  DT.91810709  DT.91920955  DT.120735736 
    DT.91963641  DT.120735683  DT.120735720  DT.120735743  DT.97865184  DT.95219160 

    24/577 AceView cDNA sequences (see all 577):

    BM470399 CA418617 BM840169 AI341786 AF067139 BU165649 BU541696 CB113394 
    AA741444 AL135819 BU689034 T51185 BM987462 AW770005 AI127343 BU627531 
    AV654780 BF102519 BG219906 BQ427661 CB850769 CR594360 W73184 BM698732 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NDUFS3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGATCCTAG
    NDUFS3 Expression
    About this image


    See NDUFS3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NDUFS3

    SOURCE GeneReport for Unigene cluster: Hs.502528
        SABiosciences Expression via Pathway-Focused PCR Arrays including NDUFS3: 
              Mitochondrial Energy Metabolism in human mouse rat
              Apoptosis 384HT in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NDUFS3 gene from 9/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ndufs31 , 5 NADH dehydrogenase (ubiquinone) Fe-S protein 31, 5 87.15(n)1
    87.79(a)1
      2 (50.44 cM)5
    683491  NM_026688.21  NP_080964.11 
     908946345 
    chicken
    (Gallus gallus)
    Aves NDUFS31 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) less 76.26(n)
    80.54(a)
      423179  NM_001146332.1  NP_001139804.1 
    lizard
    (Anolis carolinensis)
    Reptilia NDUFS36
    Uncharacterized protein
    82(a)
    1 ↔ 1
    1(44280357-44290380)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.243822 Xenopus laevis transcribed sequence with moderate similarity to protein refNP_004542.1 (H.sapiens) NADH dehydrogenase (ubiquinone) Fe-S protein 3 (30kD) (NADH-coenzyme Q reductase) [Homo sapiens] less 78.48(n)    BJ057272.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ndufs31 NADH dehydrogenase (ubiquinone) Fe-S protein 3, (NADH-coenzyme Q reductase) less 72.42(n)
    80.09(a)
      550451  NM_001017755.1  NP_001017755.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG120791 , 3 NADH dehydrogenase (ubiquinone)3
    CG120791
    75(a)3
    63.64(n)1
    66.8(a)1
      63B73
    383781  NM_139518.21  NP_647775.11 
    worm
    (Caenorhabditis elegans)
    Secernentea nuo-21 Protein NUO-2 58.08(n)
    58.95(a)
      172363  NM_059480.2  NP_491881.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons nad91 NADH dehydrogenase subunit 9 60.22(n)
    62(a)
      814568  nad9_13449296  NP_085479.1 
    rice
    (Oryza sativa)
    Liliopsida nad91 NADH dehydrogenase subunit 9 57.06(n)
    57.06(a)
      3950743  nad9_89280732  YP_514683.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NDUFS3 gene
    18/30 SIMAP similar genes for NDUFS3 using alignment to 6 protein entries:     NDUS3_HUMAN (see all proteins) (see all similar genes):
    DKFZp586K0821    TNNT1    ZNF257    C1orf143    EEF1E1    KIAA0101
    NLN    SH2B3    TUBA1C    ZNF114    ARL6IP5    ATL2
    COQ5    DPP9    GALK2    RBP7    TAF2    ZNF799

    NDUFS3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/239 SNPs in NDUFS3 are shown (see all 239)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289397141,2
    Cpathogenic147529381(+) GAAGAC/TCTACA 2 T I mis10--------
    rs1048942701,2
    Cpathogenic147529677(+) CTTTCC/TGGAAA 2 R W mis10--------
    rs1915816851,2
    --47524284(+) CATCAC/GTAAAA 1 -- us2k10--------
    rs1417899291,2
    C--47524375(+) AAATT-/AAGAGT 1 -- us2k10--------
    rs2008028371,2
    C--47524617(+) GTAACC/TGGGTA 1 -- us2k10--------
    rs2001223011,2
    C--47524636(+) CCCCTC/TCCTAA 1 -- us2k10--------
    rs1489058561,2
    C,F--47524771(+) GTGCCG/CATCTG 1 -- us2k12Minor allele frequency- C:0.00NA EU 5867
    rs753524631,2
    C,F--47525007(+) TCAGGT/CTGGAA 1 -- us2k13Minor allele frequency- C:0.01NA EU 5991
    rs1382032311,2
    C,F--47525025(+) TGGATC/TGGAAG 1 -- us2k12Minor allele frequency- T:0.00NA EU 5873
    rs2017957041,2
    --47525031(+) GGAAGA/CAGCAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for NDUFS3 (47586888 - 47606115 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for NDUFS3:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv509405CNV Insertion20534489
    nsv314CNV Loss18451855
    nsv832142CNV Loss17160897
    nsv825872CNV Gain20364138


    Human Gene Mutation Database (HGMD): NDUFS3
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing NDUFS3
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603846   
    OMIM disorders: 256000  
    14 diseases for NDUFS3:    About MalaCards
    tungiasis    mitochondrial dna deletion syndromes    mitochondrial complex i deficiency    mitochondrial dna-associated leigh syndrome and narp
    mitochondrial disorders    endocarditis    encephalomyopathy    down syndrome
    huntington's disease    parkinson's disease    tuberculosis    schizophrenia
    cerebritis    alzheimer's disease

    1 disease from the University of Copenhagen DISEASES database for NDUFS3:
    Tungiasis

    NDUFS3 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): NDUFS3
    Human Genome Epidemiology (HuGE) Navigator: NDUFS3 (4 documents)

    Export disorders for NDUFS3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NDUFS3 gene, integrated from 9 sources (see all 56):
    (articles sorted by number of sources associating them with NDUFS3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    2. Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)- interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. (PubMed id 19463981)1, 2 Saada A....Nijtmans L.G. (2009)
    3. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)1, 4 Saito A....Kamatani N. (2009)
    4. Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey. (PubMed id 18977241)1, 4 Starr J.M....Deary I.J. (2008)
    5. A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition. (PubMed id 17601350)1, 4 Harris S.E....Deary I.J. (2007)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. (PubMed id 12611891)1, 2 Murray J.... Capaldi R.A. (2003)
    8. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)1, 2 Hu R.-M.... Chen J.-L. (2000)
    9. Human NDUFS3 gene coding for the 30-kDa subunit of mitochondrial Complex I: genomic organization and expression. (PubMed id 10967146)1, 2 Procaccio V....Issartel J.P. (2000)
    10. Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain. (PubMed id 9763677)1, 3 Emahazion T....Brookes A.J. (1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4722 HGNC: 7710 AceView: NDUFS3andPLIP Ensembl:ENSG00000213619 euGenes: HUgn4722
    ECgene: NDUFS3 Kegg: 4722 H-InvDB: NDUFS3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NDUFS3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NDUFS3 gene:
    Search GeneIP for patents involving NDUFS3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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