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NDUFA9 Gene

protein-coding   GIFtS: 59
GCID: GC12P004760

NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 9, 39kDa

(Previous names: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD))
(Previous symbol: NDUFS2L)
  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) 1 Alpha Subcomplex, 9, 39kDa1 2     CC62
NDUFS2L1 2 3     CI-39k2
Complex I 39kDa Subunit1 2     CI39k2
CI-39kD2 3     SDR22E12
NADH-Ubiquinone Oxidoreductase 39 KDa Subunit2 3     NADH Dehydrogenase (Ubiquinone) Fe-S Protein 2-Like (NADH-Coenzyme Q
Reductase)2
Member 11     NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 9,
Mitochondrial2
NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 9 (39kD)1     Short Chain Dehydrogenase/Reductase Family 22E, Member 12
Short Chain Dehydrogenase/Reductase Family 22E1     Complex I-39kD3

External Ids:    HGNC: 76931   Entrez Gene: 47042   Ensembl: ENSG000001391807   OMIM: 6038345   UniProtKB: Q167953   

Export aliases for NDUFA9 gene to outside databases

Previous GC identifers: GC12P004495 GC12P004650 GC12P004628 GC12P004759 GC12P004714


(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 NDUFA9 Gene:
The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase
(complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial
membrane. A pseudogene has been identified on chromosome 12. (provided by RefSeq, May 2010)

GeneCards Summary for NDUFA9 Gene:
NDUFA9 (NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa) is a protein-coding gene. Diseases associated with NDUFA9 include leigh syndrome due to mitochondrial complex i deficiency, and mitochondrial dna deletion syndromes. GO annotations related to this gene include NADH dehydrogenase activity and NADH dehydrogenase (ubiquinone) activity. An important paralog of this gene is ENSG00000255639.

UniProtKB/Swiss-Prot: NDUA9_HUMAN, Q16795
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 NDUFA9 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_000012.12  NC_018923.2  NT_009759.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the NDUFA9 gene promoter:
         AML1a   GATA-3   POU6F1 (c2)   STAT5A   HNF-3beta   Arnt   PPAR-gamma1   FOXO1a   PPAR-gamma2   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNDUFA9 promoter sequence
   Search Chromatin IP Primers for NDUFA9

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NDUFA9


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

Entrez Gene cytogenetic band: 12p13.3   Ensembl cytogenetic band:  12p13.32   HGNC cytogenetic band: 12p13.3

NDUFA9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDUFA9 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P004760:  view genomic region     (about GC identifiers)

Start:
4,758,261 bp from pter      End:
4,798,454 bp from pter
Size:
40,194 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: NDUA9_HUMAN, Q16795 (See protein sequence)
Recommended Name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial precursor  
Size: 377 amino acids; 42510 Da
Cofactor: Binds 1 FAD per subunit
Subunit: Complex I is composed of 45 different subunits. This a component of the hydrophobic protein fraction.
Interacts with BLOC1S1. Interacts with SLC2A4 (By similarity)
Sequence caution: Sequence=CAA54099.1; Type=Frameshift; Positions=18;
Secondary accessions: Q14076 Q2NKX0

Explore the universe of human proteins at neXtProt for NDUFA9: NX_Q16795

Explore proteomics data for NDUFA9 at MOPED

Post-translational modifications: 

  • Acetylated on lysine residues. BLOC1S1 is required for acetylation1
  • Ubiquitination2 at Lys137, Lys234
  • Modification sites at PhosphoSitePlus

  • See NDUFA9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004993.1  
    ENSEMBL proteins: 
     ENSP00000266544   ENSP00000440305   ENSP00000439818  
    Reactome Protein details: Q16795

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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
    SDRE: Short chain dehydrogenase/reductase superfamily / Extended SDR fold

    2 InterPro protein domains:
     IPR001509 Epimerase_deHydtase
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q16795

    ProtoNet protein and cluster: Q16795

    UniProtKB/Swiss-Prot: NDUA9_HUMAN, Q16795
    Similarity: Belongs to the complex I NDUFA9 subunit family


    NDUFA9 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: NDUA9_HUMAN, Q16795
    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 NDUFA9:
    NADH ubiquinone oxidoreductase (Q reductase),component of the complex I multi-subunit enzyme of the oxidative
    phosphorylation (OXPHOS),iron sulfur-protein 2-like,inner mitochondrial membrane,homolog to 39kDa bovine subunit

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:00038543-beta-hydroxy-delta5-steroid dehydrogenase activity ----
    GO:0003954NADH dehydrogenase activity NAS8486360
    GO:0005515protein binding IPI19103604
    GO:0008137NADH dehydrogenase (ubiquinone) activity NAS8486360
         
    NDUFA9 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for NDUFA9:
     Synthetic lethal with Ras 

    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
    NDUA9_HUMAN, Q16795: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005747mitochondrial respiratory chain complex I IDA12611891
    GO:0005759mitochondrial matrix IDA8486360
    GO:0031966mitochondrial membrane IDA17209039

    NDUFA9 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 NDUFA9 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 NDUFA9
        Oxidative phosphorylation
    Electron Transport Chain


    1 Reactome Pathway for NDUFA9
        Respiratory electron transport


    Selected Kegg Pathways  (Kegg details for NDUFA9) (see all 6):
        Oxidative phosphorylation
    Metabolic pathways
    Non-alcoholic fatty liver disease (NAFLD)
    Alzheimer's disease
    Parkinson's disease


    NDUFA9 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NDUFA9
    Interactions:

        Search GeneGlobe Interaction Network for NDUFA9

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

    Selected Interacting proteins for NDUFA9 (Q167951, 2, 3 ENSP000002665444) via UniProtKB, MINT, STRING, and/or I2D (see all 308)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NDUFS3O754892, 3, ENSP000002637744MINT-8079030 MINT-4981243 I2D: score=2 STRING: ENSP00000263774
    NDUFS2O753062, 3, ENSP000003569724MINT-8079030 I2D: score=1 STRING: ENSP00000356972
    NOA1Q8NC601, 2, ENSP000002642304EBI-1045087,EBI-717871 MINT-8079030 STRING: ENSP00000264230
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    CIAO1O760713, ENSP000004182874I2D: score=1 STRING: ENSP00000418287
    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 NAS9878551
    GO:0006694steroid biosynthetic process ----
    GO:0006814sodium ion transport NAS8486360
    GO:0022904respiratory electron transport chain TAS--
    GO:0044237cellular metabolic process TAS--

    NDUFA9 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
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    Browse Tocris compounds for NDUFA9 (NDUA9)

    8 HMDB Compounds for NDUFA9    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 NDUFA9    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17530440 17132781 17323923 17499024 17260964



    (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 NDUFA9 gene: 
    NM_005002.4  

    Unigene Cluster for NDUFA9:

    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
    Hs.75227  [show with all ESTs]
    Unigene Representative Sequence: BM546373
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000539573 ENST00000266544(uc001qnc.3 uc010ses.2) ENST00000542369
    ENST00000396655(uc009zei.2) ENST00000544679 ENST00000535050 ENST00000535726
    ENST00000544675 ENST00000540688
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    Additional mRNA sequence: 

    AF050641.1 AK291067.1 AK308588.1 BC003351.1 BC009311.2 BC015837.1 BC111546.1 L04490.1 

    Selected DOTS entries (see all 27):

    DT.91771898  DT.75117584  DT.100891674  DT.100835647  DT.100891671  DT.100730530  DT.121205613  DT.95267909 
    DT.100766514  DT.121639700  DT.40115708  DT.86841940  DT.102839037  DT.120656044  DT.92020332  DT.95267898 
    DT.100891617  DT.120656360  DT.121205622  DT.421153  DT.91771913  DT.95229789  DT.95267870  DT.95296517 

    Selected AceView cDNA sequences (see all 93):

    CB998336 BM468462 BX432142 AA155645 CB158568 BU932465 BM974478 NM_005002 
    BG427280 BM542288 CR592695 BF002809 BU656214 AA085509 CA429970 L04490 
    AI686124 AA830814 BM754631 BQ639461 CR606290 BQ681708 AF050641 CB113272 

    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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    NDUFA9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGTTTGAGC
    NDUFA9 Expression
    About this image


    NDUFA9 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Primary Oocyte Primary Follicle
             Oviduct
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Gonad
             Primary Oocyte Primary Follicle
     
     Neural Tube (Nervous System)
             Telencephalon
    NDUFA9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NDUFA9 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.75227
        Custom PCR Arrays for NDUFA9
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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 NDUFA9 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ndufa91 , 5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more1, 5 79.34(n)1
    78.46(a)1
      6 (61.92 cM)5
    661081  NM_025358.31  NP_079634.21 
     1268218635 
    chicken
    (Gallus gallus)
    Aves NDUFA91 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more 71.81(n)
    70.25(a)
      419039  NM_001006281.1  NP_001006281.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    67(a)
    63(a)
    many ↔ many
    many ↔ many
    5(80850662-80874337)
    1(181137095-181138222)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC643162 hypothetical protein MGC64316 73.25(n)    BC045076.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc41f122 Transcribed sequence with weak similarity to protein more 74.72(n)    CA473564.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG60201 , 3 NADH dehydrogenase (ubiquinone)3
    CG60201
    44(a)3
    50(n)1
    46.2(a)1
      77C63
    402721  NM_001275187.11  NP_001262116.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y53G8AL.21 , 3 Y53G8AL.21 41(a)3
    49.12(n)1
    43.61(a)1
      III(3313682-3320391)3
    1754291  NM_065274.51  NP_497675.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G203601 AT2G20360 55.93(n)
    50.42(a)
      816555  NM_127595.3  NP_565469.1 
    rice
    (Oryza sativa)
    Liliopsida Os.103422 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.9(n)    AK102271.1 


    ENSEMBL Gene Tree for NDUFA9 (if available)
    TreeFam Gene Tree for NDUFA9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NDUFA9 gene
    ENSG000002556392  

    NDUFA9 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for NDUFA9
    PGOHUM00000246321


    (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 NDUFA9 (see all 946)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs725163761,2
    C--4625245(+) TGCCT-/CT/TC 
            
    TGTTT
    1 -- int10--------
    rs1113207801,2
    C--4652288(+) TTTTTT/-AATGG 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs788360021,2
    C,F--4687692(+) TGGGGC/TTTGCT 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1858760331,2
    --4687731(+) CATTCC/TATGAT 1 -- us2k10--------
    rs1156948531,2
    F--4687766(+) TAGTAC/TTGCAT 1 -- us2k11Minor allele frequency- T:0.01WA 118
    rs1507736991,2
    --4687829(+) CCACCC/TGATTC 1 -- us2k10--------
    rs1391205631,2
    --4687852(+) TTTGAA/GGTACC 1 -- us2k10--------
    rs619099621,2
    C--4687876(+) TTTACC/TCTGTT 1 -- us2k14Minor allele frequency- T:0.07NA WA EA 360
    rs619099631,2
    C,F--4687912(+) TCACAG/ACTAAC 1 -- us2k13Minor allele frequency- A:0.04NA WA 240
    rs1453062281,2
    --4688065(+) ACAAGC/TCTGGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for NDUFA9 (4758261 - 4798454 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for NDUFA9:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv269735CNV Insertion20981092
    esv273803CNV Insertion20981092
    nsv587CNV Insertion18451855
    dgv1346n71CNV Loss21882294
    dgv1349n71CNV Loss21882294
    dgv1348n71CNV Loss21882294
    dgv1347n71CNV Loss21882294
    nsv832318CNV Gain17160897

    Human Gene Mutation Database (HGMD): NDUFA9
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NDUFA9
    DNA2.0 Custom Variant and Variant Library Synthesis for NDUFA9

    (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: 603834   
    OMIM disorders: 256000  
    18 diseases for NDUFA9:    
    About MalaCards
    leigh syndrome due to mitochondrial complex i deficiency    mitochondrial dna deletion syndromes    mitochondrial dna-associated leigh syndrome and narp    mitochondrial complex i deficiency
    mitochondrial disorders    intrahepatic cholangiocarcinoma    fatty liver disease    cholangiocarcinoma
    huntington's disease    parkinson's disease    liver disease    tonsillitis
    alzheimer's disease    cerebritis    thyroiditis    prostate cancer
    prostatitis    malaria


    NDUFA9 for disorders           About GeneDecksing

    Genetic Association Database (GAD): NDUFA9
    Human Genome Epidemiology (HuGE) Navigator: NDUFA9 (5 documents)

    Export disorders for NDUFA9 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 NDUFA9 gene, integrated from 10 sources (see all 48):
    (articles sorted by number of sources associating them with NDUFA9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Construction and evaluation of a hncDNA library of human 12p transcribed sequences derived from a somatic cell hybrid. (PubMed id 8486360)1, 2, 3 Baens M.... Marynen P. (Genomics 1993)
    2. 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)
    3. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (Chem. Biol. Interact. 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. Polymorphisms in mitochondrial genes and prostate cancer risk. (PubMed id 19064571)1, 4 Wang L....Thibodeau S.N. (amp 2008)
    6. 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)
    7. 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)
    8. 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)
    9. Purification of CpG islands using a methylated DNA binding column. (PubMed id 8012384)1, 2 Cross S.H.... Bird A.P. (Nat. Genet. 1994)
    10. Gene knockout using transcription activator-like effector nucleases (TALENs) reveals that human NDUFA9 protein is essential for stabilizing the junction between membrane and matrix arms of complex I. (PubMed id 23223238)1 Stroud D.A....Ryan M.T. (J. Biol. Chem. 2013)

    (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)
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    Entrez Gene: 4704 HGNC: 7693 AceView: NDUFA9 Ensembl:ENSG00000139180 euGenes: HUgn4704
    ECgene: NDUFA9 Kegg: 4704 H-InvDB: NDUFA9

    (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 NDUFA9 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NDUFA9 gene:
    Search GeneIP for patents involving NDUFA9

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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