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NDUFS8 Gene

protein-coding   GIFtS: 64
GCID: GC11P067798

NADH Dehydrogenase (Ubiquinone) Fe-S Protein 8, 23kDa (NADH-Coenzyme...

(Previous name: NADH dehydrogenase (ubiquinone) Fe-S protein 8 (23kD) (NADH-coenzyme...)
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(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 8, 23kDa (NADH-Coenzyme Q
Reductase)1 2
     CI23KD2
Complex I 23kDa Subunit1 2     TYKY2
Complex I-23kD2 3     NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 8, Mitochondrial2
NADH-Ubiquinone Oxidoreductase 23 KDa Subunit2 3     CI-23kD3
mitochondrial1     EC 1.6.5.33
NADH Dehydrogenase (Ubiquinone) Fe-S Protein 8 (23kD) (NADH-Coenzyme Q
Reductase)1
     EC 1.6.99.33
NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 81     TYKY Subunit3
CI-23k2     EC 1.6.99.58

External Ids:    HGNC: 77151   Entrez Gene: 47282   Ensembl: ENSG000001107177   OMIM: 6021415   UniProtKB: O002173   

Export aliases for NDUFS8 gene to outside databases

Previous GC identifers: GC11P070321 GC11P069494 GC11P068048 GC11P067573 GC11P067554 GC11P064133


(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 NDUFS8 Gene:
This gene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme of
the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ejection of protons from
mitochondria. The encoded protein is involved in the binding of two of the six to eight iron-sulfur clusters of
Complex I and, as such, is required in the electron transfer process. Mutations in this gene have been associated
with Leigh syndrome. (provided by RefSeq, Mar 2010)

GeneCards Summary for NDUFS8 Gene:
NDUFS8 (NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)) is a protein-coding gene. Diseases associated with NDUFS8 include leigh syndrome due to mitochondrial complex i deficiency, and mitochondrial dna deletion syndromes. GO annotations related to this gene include 4 iron, 4 sulfur cluster binding and electron carrier activity.

UniProtKB/Swiss-Prot: NDUS8_HUMAN, O00217
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). May donate electrons to ubiquinone

Gene Wiki entry for NDUFS8 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_000011.10  NT_167190.2  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NDUFS8 gene promoter:
         NF-1   NF-1/L   AP-1   p53   Fra-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNDUFS8 promoter sequence
   Search Chromatin IP Primers for NDUFS8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NDUFS8


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

Entrez Gene cytogenetic band: 11q13   Ensembl cytogenetic band:  11q13.2   HGNC cytogenetic band: 11q13.2

NDUFS8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDUFS8 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P067798:  view genomic region     (about GC identifiers)

Start:
67,798,084 bp from pter      End:
67,804,114 bp from pter
Size:
6,031 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: NDUS8_HUMAN, O00217 (See protein sequence)
Recommended Name: NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial precursor  
Size: 210 amino acids; 23705 Da
Cofactor: Binds 2 4Fe-4S clusters per subunit (By similarity)
Subunit: Mammalian complex I is composed of 45 different subunits
Secondary accessions: B2RB86 Q0VDA8

Explore the universe of human proteins at neXtProt for NDUFS8: NX_O00217

Explore proteomics data for NDUFS8 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for NDUFS8 (O00217)
     CPAQAITIEA  SPRFRGEHALRRYP 


    See NDUFS8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002487.1  
    ENSEMBL proteins: 
     ENSP00000315774   ENSP00000403972   ENSP00000433645   ENSP00000432848   ENSP00000433054  
     ENSP00000436287   ENSP00000433521   ENSP00000432968   ENSP00000431293   ENSP00000434283  
    Reactome Protein details: O00217

    NDUFS8 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

    4 InterPro protein domains:
     IPR010226 NADH_quinone_OxRdtase_chainI
     IPR001450 4Fe4S-bd_dom
     IPR017900 4Fe4S_Fe_S_CS
     IPR017896 4Fe4S_Fe-S-bd

    Graphical View of Domain Structure for InterPro Entry O00217

    ProtoNet protein and cluster: O00217

    UniProtKB/Swiss-Prot: NDUS8_HUMAN, O00217
    Similarity: Belongs to the complex I 23 kDa subunit family
    Similarity: Contains 2 4Fe-4S ferredoxin-type domains


    NDUFS8 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: NDUS8_HUMAN, O00217
    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). May donate electrons to ubiquinone
    Catalytic activity: NADH + ubiquinone + 5 H(+)(In) = NAD(+) + ubiquinol + 4 H(+)(Out)
    Catalytic activity: NADH + acceptor = NAD(+) + reduced acceptor

         Genatlas biochemistry entry for NDUFS8:
    NADH ubiquinone oxidoreductase (Q reductase),23kDa,component of the complex I multi-subunit enzyme of the
    oxidative phosphorylation (OXPHOS),iron-sulfur protein 8,inner mitochondrial membrane,TYKY subunit required for
    proper assembly of complex I

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

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003954contributes to NADH dehydrogenase activity IMP14749350
    GO:0008137NADH dehydrogenase (ubiquinone) activity NAS9878551
    GO:0016651oxidoreductase activity, acting on NAD(P)H ----
    GO:0046872metal ion binding IEA--
    GO:0051536iron-sulfur cluster binding ----
         
    NDUFS8 for ontologies           About GeneDecksing


    Animal Models:
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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
    NDUS8_HUMAN, O00217: Mitochondrion (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    nucleus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA9666055
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005747mitochondrial respiratory chain complex I NAS9878551
    GO:0016020membrane ----

    NDUFS8 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 NDUFS8 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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for NDUFS8
        Oxidative phosphorylation
    Electron Transport Chain


    1 Reactome Pathway for NDUFS8
        Respiratory electron transport


    Selected Kegg Pathways  (Kegg details for NDUFS8) (see all 6):
        Oxidative phosphorylation
    Metabolic pathways
    Non-alcoholic fatty liver disease (NAFLD)
    Alzheimer's disease
    Parkinson's disease


    NDUFS8 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including NDUFS8: 
              Mitochondrial Energy Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for NDUFS8

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

    Selected Interacting proteins for NDUFS8 (O002172, 3 ENSP000003157744) via UniProtKB, MINT, STRING, and/or I2D (see all 301)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    GEMP550403, ENSP000002975964I2D: score=2 STRING: ENSP00000297596
    NDUFA2O436783, ENSP000002521024I2D: score=1 STRING: ENSP00000252102
    NDUFA9Q167952, ENSP000002665444MINT-8079030 STRING: ENSP00000266544
    UQCRC1P319302, ENSP000002034074MINT-8079030 STRING: ENSP00000203407
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006120mitochondrial electron transport, NADH to ubiquinone NAS9666055
    GO:0006979response to oxidative stress IDA12857734
    GO:0022904respiratory electron transport chain TAS--
    GO:0032981mitochondrial respiratory chain complex I assembly IMP11112787
    GO:0044237cellular metabolic process TAS--

    NDUFS8 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 NDUFS8 (NDUS8)

    9 HMDB Compounds for NDUFS8    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 NDUFS8    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--11086155 9576793 17139284 17016423 9837812

    1 Novoseek inferred chemical compound relationship for NDUFS8 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iron-sulfur 58.5 4 9837812 (1)



    NDUFS8 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,
    Conferences by KenesGroup, 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 NDUFS8 gene: 
    NM_002496.3  

    Unigene Cluster for NDUFS8:

    NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
    Hs.90443  [show with all ESTs]
    Unigene Representative Sequence: AK002110
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000432321(uc010rpz.2) ENST00000313468(uc001onc.3 uc009ysb.2)
    ENST00000531796 ENST00000453471 ENST00000526446 ENST00000528492 ENST00000532399
    ENST00000531228 ENST00000526339 ENST00000525419 ENST00000525628 ENST00000529645
    ENST00000524810 ENST00000526542 ENST00000531282

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    Additional mRNA sequence: 

    AK002110.1 AK223114.1 AK314546.1 BC119753.1 BC119754.2 U65579.1 

    13 DOTS entries:

    DT.214409  DT.100825467  DT.97859647  DT.120721261  DT.92440796  DT.92440792  DT.97859650  DT.100038006 
    DT.120721254  DT.97859648  DT.100038004  DT.100825466  DT.40118197 

    Selected AceView cDNA sequences (see all 277):

    BM982535 BM051570 CB106786 BM706204 BI769307 BM704859 BE877318 BI090620 
    BE264899 BM856145 BM694349 BG568101 BM767442 BM126472 BP374903 BG171163 
    BF337776 BU729813 BM668344 CB125135 AI635815 CB121323 BU931874 CA388617 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NDUFS8 (see all 16)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^
    SP1:                                -     -     -     -     -                       -     -     -     -                             -     -     -               
    SP2:                                -     -     -     -     -                       -     -     -     -                             -     -     -               
    SP3:                                            -     -     -                       -     -     -     -                             -     -     -               
    SP4:                                                  -     -                       -     -     -     -                             -     -     -               
    SP5:                                                                                -     -     -     -     -                       -     -     -               

    ExUns: 12a · 12b · 12c · 12d
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for NDUFS8

    (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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    NDUFS8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGAGCTGCT
    NDUFS8 Expression
    About this image

    NDUFS8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NDUFS8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.90443
        Pathway & Disease-focused RT2 Profiler PCR Array including NDUFS8: 
              Mitochondrial Energy Metabolism 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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NDUFS8 gene from Selected species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ndufs81 , 5 NADH dehydrogenase (ubiquinone) Fe-S protein 81, 5 84.7(n)1
    90.82(a)1
      19 (3.63 cM)5
    2258871  NM_001271443.11  NP_001258372.11 
     39088705 
    chicken
    (Gallus gallus)
    Aves NDUFS81 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa more 85.13(n)
    91.94(a)
      769492  XM_001232779.3  XP_001232780.1 
    lizard
    (Anolis carolinensis)
    Reptilia NDUFS86
    NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23...
    80(a)
    1 ↔ 1
    AAWZ02036345(10260-14998)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.334702 Xenopus laevis transcribed sequence with moderate similarity more 77(n)    CD301980.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb30b072 Danio rerio NADH-coenzyme Q reductase, mRNA (cDNA clone more 82.47(n)    BC058299.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ND231 , 3 NADH dehydrogenase (ubiquinone)3
    NADH:ubiquinone reductase 23kD subunit precursor1
    82(a)3
    75.61(n)1
    81.56(a)1
      89A53
    442071  NM_079980.41  NP_524719.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T20H4.51 , 3 Mitochondrial complex I 23K chain3
    T20H4.51
    68(a)3
    66.48(n)1
    75.71(a)1
      III(7304913-7306460)3
    1760231  NM_066194.41  NP_498595.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G167001 AT1G16700 68.29(n)
    78.66(a)
      838239  NM_101530.3  NP_173114.1 
    rice
    (Oryza sativa)
    Liliopsida Os.119022 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 76.61(n)    AK065851.1 


    ENSEMBL Gene Tree for NDUFS8 (if available)
    TreeFam Gene Tree for NDUFS8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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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)
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    Selected SNPs for NDUFS8 (see all 219)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289396791,2,,4
    CLeigh syndrome (LS)4 pathogenic167722241(+) GGAACC/TGGCCA 2 P L mis10--------
    VAR_0195394
    Leigh syndrome (LS)4--see VAR_0195392 R H mis40--------
    rs1219126391,2
    Cpathogenic167722259(+) CTACCC/TGTTCG 2 P L mis10--------
    rs1219126381,2
    Cpathogenic167722310(+) GCTGCA/GCCGGT 2 H R mis10--------
    rs1110335881,2
    Cpathogenic167725376(+) CAGCCA/GCCGGA 2 H R mis10--------
    rs1847974431,2
    --67720375(+) AGTTTA/CCAGCA 1 -- int10--------
    rs1417590531,2
    --67720376(+) GTTTCC/TAGCAG 1 -- int10--------
    rs1445238411,2
    --67720550(+) ATTCTC/TCTACC 1 -- int10--------
    rs9995711,2
    C,F,H--67720893(-) GCCCCC/TGCCAG 1 -- int122Minor allele frequency- T:0.16EA NS NA WA 2880
    rs118247811,2
    C,F,H--67721107(+) CATCTG/CTGCCT 1 -- int19Minor allele frequency- C:0.09NS EA WA NA CSA 546

    HapMap Linkage Disequilibrium report for NDUFS8 (67798084 - 67804114 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for NDUFS8 (see all 17):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2672926CNV Deletion23128226
    esv2744657CNV Deletion23290073
    dgv1205n71CNV Loss21882294
    nsv469964CNV Loss18288195
    dgv1203n71CNV Loss21882294
    dgv156n27CNV Loss19166990
    dgv1204n71CNV Loss21882294
    dgv1208n71CNV Loss21882294
    dgv1207n71CNV Loss21882294
    nsv897850CNV Loss21882294

    Human Gene Mutation Database (HGMD): NDUFS8
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NDUFS8
    DNA2.0 Custom Variant and Variant Library Synthesis for NDUFS8

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602141   
    OMIM disorders: 256000  
    UniProtKB/Swiss-Prot: NDUS8_HUMAN, O00217
  • Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by
    the presence of focal, bilateral lesions in one or more areas of the central nervous system including the
    brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the
    central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia,
    weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 18 diseases for NDUFS8:    
    About MalaCards
    leigh syndrome due to mitochondrial complex i deficiency    mitochondrial dna deletion syndromes    leigh syndrome with leukodystrophy    mitochondrial dna-associated leigh syndrome and narp
    mitochondrial complex i deficiency    leigh disease    adrenocortical carcinoma    mitochondrial disorders
    encephalomyopathy    huntington's disease    fatty liver disease    parkinson's disease
    liver disease    tuberculosis    alzheimer's disease    multiple myeloma
    malaria    myeloma

    1 disease from the University of Copenhagen DISEASES database for NDUFS8:
    Leigh disease

    NDUFS8 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    1 Novoseek inferred disease relationship for NDUFS8 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leigh syndrome 89.2 1 15159508 (1)

    Genetic Association Database (GAD): NDUFS8
    Human Genome Epidemiology (HuGE) Navigator: NDUFS8 (5 documents)

    Export disorders for NDUFS8 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 NDUFS8 gene, integrated from 10 sources (see all 42):
    (articles sorted by number of sources associating them with NDUFS8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. (PubMed id 9837812)1, 2, 7, 9 Loeffen J.... van den Heuvel L. (Am. J. Hum. Genet. 1998)
    2. Genomic structure of the human NDUFS8 gene coding for the iron-sulfur TYKY subunit of the mitochondrial NADH:ubiquinone oxidoreductase. (PubMed id 9666055)1, 2, 3, 9 de Sury R.... Issartel J.-P. (Gene 1998)
    3. cDNA sequence and chromosomal localization of the NDUFS8 human gene coding for the 23 kDa subunit of the mitochondrial complex I. (PubMed id 9116042)1, 2, 3, 9 Procaccio V....Issartel J.-P. (Biochim. Biophys. Acta 1997)
    4. 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)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. 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)
    7. 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)
    8. 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)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. 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)

    (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)
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    Entrez Gene: 4728 HGNC: 7715 AceView: NDUFS8 Ensembl:ENSG00000110717 euGenes: HUgn4728
    ECgene: NDUFS8 Kegg: 4728 H-InvDB: NDUFS8

    (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)
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    NameDescription
    PharmGKB entry for NDUFS8 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=NDUFS8[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 NDUFS8 gene:
    Search GeneIP for patents involving NDUFS8

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



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