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

NDUFS3 Gene

protein-coding   GIFtS: 62
GCID: GC11P047587

NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme...

(Previous name: NADH dehydrogenase (ubiquinone) Fe-S protein 3 (30kD) (NADH-coenzyme...)
 Explore 14 diseases affiliated with
NDUFS3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for NDUFS3    

Aliases
for NDUFS3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
NADH Dehydrogenase (Ubiquinone) Fe-S Protein 3, 30kDa (NADH-Coenzyme Q
Reductase)1 2
     Complex I 30kDa Subunit2
CI-301 2     NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 3, Mitochondrial2
Complex I-30kD2 3     NADH Dehydrogenase-Ubiquinone 30 KDa Subunit2
CI-30kD2 3     EC 1.6.5.33
NADH-Ubiquinone Oxidoreductase 30 KDa Subunit2 3     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


Summaries
for NDUFS3 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  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 plasmid: NDUFS3 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

Proteins
for NDUFS3 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004542.1  
    ENSEMBL proteins: 
     ENSP00000263774   ENSP00000433753   ENSP00000432099   ENSP00000431588   ENSP00000433405  
     ENSP00000434970  
    Reactome Protein details: O75489
    Human Recombinant Protein Products: 
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    Uscn 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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    Protein Domains /
    Families
    for NDUFS3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NDUFS3 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 family: IPB001268 NADH dehydrogenase (ubiquinone)

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


    Function
    for NDUFS3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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)
    Catalytic activity: NADH + ubiquinone = NAD(+) + ubiquinol
    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

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 4 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 IPI19688755
    GO:0008137NADH dehydrogenase (ubiquinone) activity NAS9878551
    GO:0009055electron carrier activity NAS9647766


    NDUFS3 for ontologies           About GeneDecksing


    Animal Models:
         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


    Pathways & Interactions
    for NDUFS3 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    8/9 pathways (see all 9)
    		Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.1.00
    		Parkinson's disease0.61
    		Respiratory electron transport0.81
    		Oxidative phosphorylation0.52
    		Electron Transport Chain0.76
    		Alzheimer's disease0.43
    		The citric acid (TCA) cycle and respiratory electron transport0.72
    		Huntington's disease0.40
    2Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    3Doxorubicin Pathway, Pharmacokinetics
    		Doxorubicin Pathway, Pharmacokinetics1.00
    4D-myo-inositol (1,3,4)-trisphosphate biosynthesis
    		3-phosphoinositide degradation0.33

    Pathway sources
    See GeneCards unified pathways
    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         Kegg Pathways  (Kegg details for NDUFS3):
        Oxidative phosphorylation
    Metabolic pathways
    Alzheimer's disease
    Parkinson's disease
    Huntington'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)

    5/296 Interacting proteins for NDUFS3 (O754891, 2, 3 ENSP000002637744) via UniProtKB, MINT, STRING, and/or I2D (see all 296)
    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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006120mitochondrial electron transport, NADH to ubiquinone NAS9878551
    GO:0006917induction of apoptosis IMP16826196
    GO:0022904respiratory electron transport chain TAS--
    GO:0030308negative regulation of cell growth IMP16826196
    GO:0044281small molecule metabolic process TAS--


    NDUFS3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for NDUFS3 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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--

    1 DrugBank Compound for NDUFS3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423

    1 Novoseek 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 

    Transcripts
    for NDUFS3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    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
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000533507(uc001nft.3) ENST00000263774(uc001nga.2) ENST00000529276
    ENST00000528192 ENST00000530295 ENST00000534208 ENST00000534716(uc010rhn.1)
    ENST00000533105 ENST00000526871 ENST00000524568 ENST00000531351 ENST00000525378
    ENST00000525212 ENST00000527178

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    Additional cDNA 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):

    BI333961 BG219906 BM702241 BU625103 BQ427661 BM987462 AW059719 BM981650 
    CB850769 BQ016274 BI712159 AI797074 BM698732 AW337767 BE301579 BM874374 
    AW770005 BM992375 AA741444 BU689034 BM793850 AA188103 BF307039 BP428570 

    GeneLoc Exon Structure


    Expression
    for NDUFS3 gene

    (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
    CGAP TAG: TGGATCCTAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene 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
    for NDUFS3 gene

    (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 9/32 species (see all 32)    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
    		 --
    		 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
    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
    for NDUFS3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for NDUFS3 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/162 NCBI SNPs in NDUFS3 are shown (see all 162)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048942701,2
    		Cpathogenic53927009(+) CTTTCC/TGGAAA 2 R W mis10--------
    rs289397141,2
    		Cpathogenic53927305(+) GAAGAC/TCTACA 2 T I mis10--------
    rs22333501,2
    		C,H--47301842(+) CAGTGC/TAGAGA 1 -- int14Minor allele frequency- T:0.00NS EA 420
    rs22333511,2
    		F,H--47302074(+) GAGATC/GTGACT 1 -- int14Minor allele frequency- G:0.01NS EA 392
    rs110393051,2
    		C,H--47302183(+) TTTGTC/GTGATT 1 -- int14Minor allele frequency- G:0.00NS EA 412
    rs9085971,2
    		C,F,H,--47302826(+) CCCATC/TCTCAA 1 -- int119Minor allele frequency- T:0.10MN NS EA NA WA 1966
    rs1130117551,2
    		--47302913(+) AGTAAC/TTTTGA 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs22333531,2
    		C,H,--47303021(+) GAAGGG/AAAACC 1 -- int14Minor allele frequency- A:0.01NS EA WA 406
    rs1126940311,2
    		--47303078(+) TTTGAC/TATCCC 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs754134101,2
    		C,--47303157(+) TTCCTC/TCCAGC 1 -- int10--------

    HapMap Linkage Disequilibrium report for NDUFS3 (47586888 - 47606115 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for NDUFS3
         1 CNV: 4741
    Human Gene Mutation Database (HGMD): NDUFS3

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    Disorders / Diseases
    for NDUFS3 gene

    (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.)
    About This Section
    NDUFS3 for disorders           About GeneDecksing

    OMIM gene information: 603846   
    OMIM disorders: 256000  
    14 diseases for NDUFS3:    About MalaCards
    mitochondrial complex i deficiency    tungiasis    encephalomyopathy    down syndrome
    endocarditis    huntington's disease    parkinson's disease    colon carcinoma
    breast carcinoma    carcinoma    cerebritis    schizophrenia
    tuberculosis    mycobacterium tuberculosis

    1 disease from the University of Copenhagen DISEASES database for NDUFS3:
    Tungiasis
    Human Genome Epidemiology (HuGE) Navigator: NDUFS3 (4 documents)

    Export disorders for NDUFS3 gene to outside databases

    Publications
    for NDUFS3 gene

    (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 48):
    (articles sorted by number of sources associating them with NDUFS3)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. 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)
    3. 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)
    4. 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)
    5. 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)
    6. 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)
    7. 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. (PubMed id 9647766)1, 2 Loeffen J.... Smeitink J. (1998)
    8. Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. (PubMed id 14729820)1, 9 Benit P....Rustin P. (2004)
    9. 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. (PubMed id 16826196)1, 9 Huang G....Cao X. (2007)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)

    External Searches for NDUFS3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    Genome Databases showing NDUFS3 gene

    (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

    Other Databases showing NDUFS3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NDUFS3 gene

    (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

    Intellectual Property
    for NDUFS3 gene

    (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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