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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...)
  See NDUFS3-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 due to mitochondrial complex i deficiency. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NC_018922.2  NT_009237.19  
Regulatory elements:
   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 Chromatin IP Primers for NDUFS3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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: 

  • Ubiquitination2 at Lys56, Lys200, Lys232
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for NDUFS3 (O75489) (see all 5)
     ANWYERE  RRILTDY  LTDYGFEG  PFRKDFPLSG 


    See NDUFS3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004542.1  
    ENSEMBL proteins: 
     ENSP00000263774   ENSP00000433753   ENSP00000432099   ENSP00000431588   ENSP00000433405  
     ENSP00000434970  
    Reactome Protein details: O75489

    NDUFS3 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with NDUFS3           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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 ----
         
    Find genes that share ontologies with NDUFS3           About GenesLikeMe


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

    Find genes that share phenotypes with NDUFS3           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NDUFS3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NDUFS3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NDUFS3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NDUFS3

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NDUS3_HUMAN, O75489: Mitochondrion inner membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005739mitochondrion NAS9647766
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005747mitochondrial respiratory chain complex I NAS9878551
    GO:0031966mitochondrial membrane IDA17209039

    Find genes that share ontologies with NDUFS3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    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 disease0.57
    Respiratory electron transport0.81
    Oxidative phosphorylation0.51
    Electron Transport Chain0.75
    Huntington's disease0.45
    The citric acid (TCA) cycle and respiratory electron transport0.71
    Non-alcoholic fatty liver disease (NAFLD)0.41
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Alzheimer's disease
    Alzheimer's disease0.44
    4Doxorubicin Pathway, Pharmacokinetics
    Doxorubicin Pathway, Pharmacokinetics0.43
    53-phosphoinositide degradation
    3-phosphoinositide degradation


    Find genes that share SuperPaths with NDUFS3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


    1 Reactome Pathway for NDUFS3
        Respiratory electron transport

    1 PharmGKB Pathway for NDUFS3
        Doxorubicin Pathway, Pharmacokinetics

    Selected 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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NDUFS3: 
              Mitochondrial Energy Metabolism in human mouse rat
              Apoptosis 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for NDUFS3

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

    Selected Interacting proteins for NDUFS3 (O754891, 2, 3 ENSP000002637744) via UniProtKB, MINT, STRING, and/or I2D (see all 317)
    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): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006120mitochondrial electron transport, NADH to ubiquinone NAS9647766
    GO:0021762substantia nigra development IEP--
    GO:0022904respiratory electron transport chain TAS--
    GO:0030308negative regulation of cell growth IMP16826196
    GO:0044237cellular metabolic process TAS--

    Find genes that share ontologies with NDUFS3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    Find genes that share compounds with NDUFS3           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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      QuantiTect SYBR Green Assays in human, mouse, rat NDUFS3
      QuantiFast Probe-based Assays in human, mouse, rat NDUFS3

    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 

    Selected AceView cDNA sequences (see all 577):

    AA188103 BE301579 CB850769 AI190045 BQ635942 BU629500 AW327337 BM726668 
    BG425020 BQ435071 CR600660 AI809374 BU736206 BI712474 CA431837 BQ050653 
    CA844130 BE909774 AI024990 BF435924 AI095776 BI439155 BX282139 CA866468 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    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

    NDUFS3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NDUFS3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.502528
        Pathway & Disease-focused RT2 Profiler PCR Arrays including NDUFS3: 
              Mitochondrial Energy Metabolism in human mouse rat
              Apoptosis 384HT in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat NDUFS3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFS3

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NDUFS3 gene from Selected species (see all 20)    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 76.13(n)
    80.54(a)
      423179  NM_001146332.1  NP_001139804.1 
    lizard
    (Anolis carolinensis)
    Reptilia NDUFS36
    NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30...
    80(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
    64.27(n)1
    68.4(a)1
      63B73
    383781  NM_139518.31  NP_647775.11 
    worm
    (Caenorhabditis elegans)
    Secernentea nuo-21 nuo-2 61.27(n)
    62.75(a)
      172363  NM_059480.3  NP_491881.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons nad91 nad9 57.44(n)
    56.5(a)
      814568  nad9_13449296  NP_085479.1 


    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)
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    Paralogs for NDUFS3 gene
    Selected 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    NLN
    SH2B3    TUBA1C    ZNF114    ARL6IP5    ATL2    COQ5
    DPP9    GALK2    RBP7    TAF2    ZNF799    RRM2B

    Find genes that share paralogs with NDUFS3           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NDUFS3 (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
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing NDUFS3
    DNA2.0 Custom Variant and Variant Library Synthesis for NDUFS3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603846   
    OMIM disorders: 256000  252010  
    6 diseases for NDUFS3:    
    About MalaCards
    tungiasis    leigh syndrome due to mitochondrial complex i deficiency    mitochondrial dna deletion syndromes    mitochondrial complex i deficiency
    leigh syndrome with leukodystrophy    leigh disease

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

    Find genes that share disorders with NDUFS3           About GenesLikeMe

    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)
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    PubMed articles for NDUFS3 gene, integrated from 10 sources (see all 60):
    (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 genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 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. (Am. J. Hum. Genet. 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. (J. Hum. Genet. 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. (Mech. Ageing Dev. 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. (BMC Genet. 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. (Genome Res. 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. (J. Biol. Chem. 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. (Proc. Natl. Acad. Sci. U.S.A. 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. (Mamm. Genome 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. (Cytogenet. Cell Genet. 1998)

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

      Query String
    PubMed
    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

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    Entrez Gene: 4722 HGNC: 7710 AceView: NDUFS3andPLIP Ensembl:ENSG00000213619 euGenes: HUgn4722
    ECgene: NDUFS3 Kegg: 4722 H-InvDB: NDUFS3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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

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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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