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NDUFS4 Gene

protein-coding   GIFtS: 64
GCID: GC05P052892

NADH Dehydrogenase (Ubiquinone) Fe-S Protein 4, 18kDa (NADH-Coenzyme...

(Previous name: NADH dehydrogenase (ubiquinone) Fe-S protein 4 (18kD) (NADH-coenzyme...)
  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)
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Aliases
NADH Dehydrogenase (Ubiquinone) Fe-S Protein 4, 18kDa (NADH-Coenzyme Q
Reductase)1 2
     AQDQ2 5
Complex I 18kDa Subunit1 2     NADH Dehydrogenase (Ubiquinone) Fe-S Protein 4 (18kD) (NADH-Coenzyme Q
Reductase)1
Complex I-18 KDa2 3     CI-182
Complex I-AQDQ2 3     Mitochondrial Respiratory Chain Complex I (18-KD Subunit)2
CI-AQDQ2 3     NADH Dehydrogenase (Ubiquinone) Iron-Sulfur Protein 42
CI-18 KDa2 3     NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 4, Mitochondrial2
NADH-Ubiquinone Oxidoreductase 18 KDa Subunit2 3     NADH-Coenzyme Q Reductase, 18-KD2

External Ids:    HGNC: 77111   Entrez Gene: 47242   Ensembl: ENSG000001642587   OMIM: 6026945   UniProtKB: O431813   

Export aliases for NDUFS4 gene to outside databases

Previous GC identifers: GC05P053020 GC05P054286 GC05P052826 GC05P052872 GC05P049829


(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 NDUFS4 Gene:
This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex
I), or NADH:ubiquinone oxidoreductase, the first multi-subunit enzyme complex of the mitochondrial respiratory
chain. Complex I plays a vital role in cellular ATP production, the primary source of energy for many crucial
processes in living cells. It removes electrons from NADH and passes them by a series of different
protein-coupled redox centers to the electron acceptor ubiquinone. In well-coupled mitochondria, the electron
flux leads to ATP generation via the building of a proton gradient across the inner membrane. Complex I is
composed of at least 41 subunits, of which 7 are encoded by the mitochondrial genome and the remainder by nuclear
genes. (provided by RefSeq, Jul 2008)

GeneCards Summary for NDUFS4 Gene:
NDUFS4 (NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)) is a protein-coding gene. Diseases associated with NDUFS4 include hemometra, and bursitis. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot: NDUS4_HUMAN, O43181
Function: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that
is believed not to be involved in 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

Gene Wiki entry for NDUFS4 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:
NC_000005.10  NT_034772.7  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NDUFS4 gene promoter:
         TBP   MyoD   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   C/EBPalpha   GATA-2   CHOP-10   Nkx6-1   TFIID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNDUFS4 promoter sequence
   Search Chromatin IP Primers for NDUFS4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NDUFS4


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

Entrez Gene cytogenetic band: 5q11.1   Ensembl cytogenetic band:  5q11.2   HGNC cytogenetic band: 5q11.1

NDUFS4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDUFS4 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P052892:  view genomic region     (about GC identifiers)

Start:
52,856,463 bp from pter      End:
52,979,171 bp from pter
Size:
122,709 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, 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., 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: NDUS4_HUMAN, O43181 (See protein sequence)
Recommended Name: NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial precursor  
Size: 175 amino acids; 20108 Da
Subunit: Mammalian complex I is composed of 45 different subunits. This is a component of the iron-sulfur (IP)
fragment of the enzyme
Secondary accessions: Q9BS69

Explore the universe of human proteins at neXtProt for NDUFS4: NX_O43181

Explore proteomics data for NDUFS4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NDUFS4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002486.1  
    ENSEMBL proteins: 
     ENSP00000424993   ENSP00000422177   ENSP00000296684   ENSP00000425967   ENSP00000424570  
    Reactome Protein details: O43181

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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

    1 InterPro protein domain:
     IPR006885 NADH_UbQ_FeS_4_mit

    Graphical View of Domain Structure for InterPro Entry O43181

    ProtoNet protein and cluster: O43181

    1 Blocks protein domain: IPB006885 ETC complex I subunit conserved region

    UniProtKB/Swiss-Prot: NDUS4_HUMAN, O43181
    Similarity: Belongs to the complex I NDUFS4 subunit family


    NDUFS4 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NDUS4_HUMAN, O43181
    Function: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that
    is believed not to be involved in 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

         Genatlas biochemistry entry for NDUFS4:
    NADH ubiquitine dehydrogenase (Q reductase),18kDa,component of complex I multi-subunit enzyme of the oxidative
    phosphorylation (OXPHOS),iron-sulfur protein 4,extrinsic domain,mitochondrial

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008137contributes to NADH dehydrogenase (ubiquinone) activity IMP15038602
    GO:0016651oxidoreductase activity, acting on NAD(P)H ----
         
    NDUFS4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for NDUFS4:
     Synthetic lethal with Ras 

         15 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Ndufs4):
     behavior/neurological  cardiovascular system  cellular  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  integument  mortality/aging  muscle 
     nervous system  normal  respiratory system  skeleton  vision/eye 

    NDUFS4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ndufs4tm1.1Rpa for NDUFS4

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NDUFS4
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    miRNA
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    miRTarBase miRNAs that target NDUFS4:
    hsa-mir-1 (MIRT023936)

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    5 qRT-PCR Assays for microRNAs that regulate NDUFS4:
    hsa-miR-548m hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-27b
    SwitchGear 3'UTR luciferase reporter plasmidNDUFS4 3' UTR sequence
    Inhib. RNA
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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
    NDUS4_HUMAN, O43181: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus2
    extracellular1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005747mitochondrial respiratory chain complex I IMP11112787
    GO:0045271respiratory chain complex I ----

    NDUFS4 for ontologies           About GeneDecksing


    (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 NDUFS4 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
    4Metformin Pathway, Pharmacodynamic
    Metformin Pathway, Pharmacodynamic

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for NDUFS4
        Oxidative phosphorylation
    Electron Transport Chain

    1 Reactome Pathway for NDUFS4
        Respiratory electron transport

    1 PharmGKB Pathway for NDUFS4
        Metformin Pathway, Pharmacodynamic

    Selected Kegg Pathways  (Kegg details for NDUFS4) (see all 6):
        Oxidative phosphorylation
    Metabolic pathways
    Non-alcoholic fatty liver disease (NAFLD)
    Alzheimer's disease
    Parkinson's disease


    NDUFS4 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including NDUFS4: 
              Mitochondrial Energy Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for NDUFS4

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

    Selected Interacting proteins for NDUFS4 (O431813 ENSP000002966844) via UniProtKB, MINT, STRING, and/or I2D (see all 86)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NDUFA2O436783, ENSP000002521024I2D: score=1 STRING: ENSP00000252102
    STAT5BP516923I2D: score=3 
    NDUFC1ENSP000003777704STRING: ENSP00000377770 STRING: ENSP00000265500
    CYC1ENSP000003171594STRING: ENSP00000317159
    MT-CYBENSP000003545544STRING: ENSP00000354554
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001932regulation of protein phosphorylation IMP11165261
    GO:0006120mitochondrial electron transport, NADH to ubiquinone NAS9463323
    GO:0007420brain development IMP14765537
    GO:0019933cAMP-mediated signaling IMP11165261
    GO:0022900electron transport chain ----

    NDUFS4 for ontologies           About GeneDecksing



    (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 NDUFS4 (NDUS4)

    8 HMDB Compounds for NDUFS4    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--
    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 NDUFS4    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--11181577 17139284 17016423 11864782 11860175

    Selected Novoseek inferred chemical compound relationships for NDUFS4 gene (see all 62)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rotenone 92.4 77 15581661 (2), 12496265 (2), 16004991 (2), 14598303 (2) (see all 68)
    1 methyl 4 phenylpyridinium 81.4 22 12428729 (2), 10517700 (2), 8197193 (1), 10198232 (1) (see all 14)
    nadh 74.8 9 16828051 (1), 17274529 (1), 16001080 (1), 1747428 (1) (see all 8)
    mptp 73.2 30 15132975 (2), 8197193 (1), 19526288 (1), 11909981 (1) (see all 19)
    annonacin 72.7 2 18816693 (1), 14675150 (1)
    squamocin 70.8 2 16489765 (2)
    ubiquinone 64.8 10 11032411 (2), 8546703 (2), 9195916 (2), 17894548 (1) (see all 7)
    thenoyltrifluoroacetone 62.1 3 15111504 (1), 15845907 (1)
    succinate 55.8 4 12665464 (1), 19605638 (1), 10222114 (1), 19821037 (1)
    dopamine 54.2 20 15130772 (2), 10517700 (2), 15715660 (1), 17018646 (1) (see all 15)



    NDUFS4 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NDUFS4 gene: 
    NM_002495.2  

    Unigene Cluster for NDUFS4:

    NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
    Hs.528222  [show with all ESTs]
    Unigene Representative Sequence: AB062482
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000507026 ENST00000502423 ENST00000296684(uc003jpe.2) ENST00000506974
    ENST00000506765 ENST00000509443
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      QuantiFast Probe-based Assays in human, mouse, rat NDUFS4

    Additional mRNA sequence: 

    AB062482.1 AF020351.1 AK307973.1 BC005270.1 

    5 DOTS entries:

    DT.118587  DT.92440823  DT.95182086  DT.86846502  DT.95216288 

    Selected AceView cDNA sequences (see all 269):

    BM314680 BF222274 BM728071 BI090864 CB070307 AA345611 CB070366 BM720469 
    N42175 BU785937 BM314367 AA041487 AI868059 BM314306 BF109228 BI771470 
    BX103028 AA682391 AI601178 AA708606 BI823796 BU596025 BX502891 CD679514 

    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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    NDUFS4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATAATAAAT
    NDUFS4 Expression
    About this image


    NDUFS4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 20) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Ovary (Reproductive System)
             Oviduct
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    NDUFS4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NDUFS4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.528222
        Pathway & Disease-focused RT2 Profiler PCR Array including NDUFS4: 
              Mitochondrial Energy Metabolism in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFS4

    (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 NDUFS4 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ndufs41 , 5 NADH dehydrogenase (ubiquinone) Fe-S protein 41, 5 88.19(n)1
    88(a)1
      13 (64.12 cM)5
    179931  NM_010887.21  NP_035017.21 
     1142877955 
    chicken
    (Gallus gallus)
    Aves NDUFS41 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa more 78.17(n)
    79.58(a)
      374122  XM_424788.4  XP_424788.4 
    lizard
    (Anolis carolinensis)
    Reptilia NDUFS46
    NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18...
    74(a)
    1 ↔ 1
    2(3184214-3259207)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480545502   -- 85.5(n)    48054550 
    zebrafish
    (Danio rerio)
    Actinopterygii CK396558.12   -- 76.99(n)    CK396558.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG122036
    --
    42(a)
    1 ↔ 1
    X(19386454-19387373)
    worm
    (Caenorhabditis elegans)
    Secernentea lpd-51 lpd-5 51.69(n)
    50(a)
      172037  NM_058958.6  NP_491359.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons FRO11 FRO1 52.8(n)
    44(a)
      836895  NM_126159.3  NP_201560.1 
    rice
    (Oryza sativa)
    Liliopsida Os07g05858001 Os07g0585800 48.98(n)
    43.54(a)
      4343746  NM_001066661.1  NP_001060126.1 


    ENSEMBL Gene Tree for NDUFS4 (if available)
    TreeFam Gene Tree for NDUFS4 (if available)

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

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    (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)
    About This Section

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    Selected SNPs for NDUFS4 (see all 2599)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048938991,2
    Cpathogenic152793550(+) GTTGTA/GGCGGA 2 * W stg10--------
    rs1048938981,2
    Cpathogenic152879195(+) GAGAGC/TGATGG 2 R * stg10--------
    rs781871751,2
    C--49878362(+) CTTCCT/-TCCTT 1 -- int11Minor allele frequency- -:0.00CSA 2
    rs1391873061,2
    C--49886726(+) CTCCA-/AAAT  
            
    AAATA
    1 -- int10--------
    rs1449770231,2
    C--49907665(+) TAAAC-/TATATAT 1 -- int10--------
    rs105718871,2
    C,F--49915026(+) CAGAT-/AAGTGTG 1 -- int13Minor allele frequency- AA:0.38CSA 8
    rs1383614781,2
    C--49951011(+) AGTTT-/AATC  
            
    AATCA
    1 -- int10--------
    rs1851699161,2
    C--49951013(+) GTTTAA/GTCAGT 1 -- int10--------
    rs1441801931,2
    C--52791496(+) CAGGT-/AAAAAA 1 -- us2k10--------
    rs1872852551,2
    --52791498(+) AGGTAA/GAAAAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for NDUFS4 (52856463 - 52979171 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for NDUFS4 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2670735CNV Deletion23128226
    esv2678642CNV Deletion23128226
    nsv881185CNV Loss21882294
    nsv4828CNV Loss18451855
    dgv6063n71CNV Loss21882294
    nsv881604CNV Loss21882294
    dgv6065n71CNV Loss21882294
    dgv6064n71CNV Loss21882294
    dgv6062n71CNV Loss21882294
    nsv830298CNV Gain17160897

    Human Gene Mutation Database (HGMD): NDUFS4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NDUFS4
    DNA2.0 Custom Variant and Variant Library Synthesis for NDUFS4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602694   
    OMIM disorders: 256000  252010  
    UniProtKB/Swiss-Prot: NDUS4_HUMAN, O43181
  • Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory
    chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset
    neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific
    encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and
    some forms of Parkinson disease. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • Selected diseases for NDUFS4 (see all 76):    
    About MalaCards
    hemometra    bursitis    fatal infantile lactic acidosis    early-onset schizophrenia
    landau-kleffner syndrome    leigh disease    leigh-like syndrome    optic nerve hypoplasia
    focal dystonia    leigh syndrome with leukodystrophy    mitochondrial complex i deficiency    leber hereditary optic neuropathy
    mitochondrial dna deletion syndromes    mitochondrial encephalomyopathy    hypogonadotropism    melas syndrome
    lactic acidosis    encephalomyopathy    cerebellar ataxia    progressive supranuclear palsy

    1 disease from the University of Copenhagen DISEASES database for NDUFS4:
    Leigh disease

    NDUFS4 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for NDUFS4 gene (see all 34)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mitochondrial complex i deficiency 97.4 41 1396914 (2), 11743516 (2), 8319712 (2), 15608010 (2) (see all 37)
    parkinson disease 80.9 56 17023271 (2), 17184173 (2), 1347219 (2), 12911637 (2) (see all 51)
    leigh syndrome 80.2 9 19364667 (2), 14729820 (1), 15824269 (1), 16996290 (1) (see all 8)
    mitochondrial diseases 77.8 4 16996407 (1), 18826940 (1), 19348886 (1), 15925774 (1)
    lebers hereditary optic neuropathy 75.7 7 17894548 (1), 8644732 (1), 11117434 (1), 15483043 (1) (see all 7)
    parkinsonism 69.4 13 11912113 (1), 19326700 (1), 9671546 (1), 11149904 (1) (see all 12)
    neurodegenerative diseases 62.1 5 18685029 (1), 19255735 (1), 16365298 (1), 1606472 (1) (see all 5)
    neurodegeneration 61.4 10 15581661 (1), 9852566 (1), 17274529 (1), 20307667 (1) (see all 10)
    acidosis lactic 53.4 5 1396914 (1), 1792871 (1), 14662656 (1), 10393702 (1) (see all 5)
    supranuclear palsy progressive 52.7 2 18464278 (1), 16919272 (1)

    Genatlas disease: NDUFS4
    mitochondrial encephalomyopathy,characterized by vomiting,failure to thrive,hypotonia,fatal progressive evolution
    with normal muscle morphology and without increased lactate concentration

    Genetic Association Database (GAD): NDUFS4
    Human Genome Epidemiology (HuGE) Navigator: NDUFS4 (6 documents)

    Export disorders for NDUFS4 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

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    PubMed articles for NDUFS4 gene, integrated from 10 sources (see all 394):
    (articles sorted by number of sources associating them with NDUFS4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit. (PubMed id 9463323)1, 2, 3, 9 van den Heuvel L....Smeitink J. (Am. J. Hum. Genet. 1998)
    2. A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome. (PubMed id 11181577)1, 7, 9 Petruzzella V....Papa S. (Hum. Mol. Genet. 2001)
    3. 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)
    4. 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)
    5. 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)
    6. Polymorphisms in mitochondrial genes and prostate cancer risk. (PubMed id 19064571)1, 4 Wang L....Thibodeau S.N. (amp 2008)
    7. 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)
    8. 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)
    9. 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)
    10. The NADH: ubiquinone oxidoreductase (complex I) of the mammalian respiratory chain and the cAMP cascade. (PubMed id 11860175)1, 7 Papa S....Signorile A. (J. Bioenerg. Biomembr. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 4724 HGNC: 7711 AceView: NDUFS4 Ensembl:ENSG00000164258 euGenes: HUgn4724
    ECgene: NDUFS4 Kegg: 4724 H-InvDB: NDUFS4

    (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 NDUFS4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=NDUFS4[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NDUFS4 gene:
    Search GeneIP for patents involving NDUFS4

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



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