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

NDUFA9 Gene

protein-coding   GIFtS: 56
GCID: GC12P004714

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa

(Previous names: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)...)
(Previous symbol: NDUFS2L)
 Explore 6 diseases affiliated with
NDUFA9 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for NDUFA9    

Aliases
for NDUFA9 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) 1 Alpha Subcomplex, 9, 39kDa1 2     CC62
NDUFS2L1 2 3     CI39k2
CI-39k1 2     Complex I 39kDa Subunit2
SDR22E11 2     NADH Dehydrogenase (Ubiquinone) Fe-S Protein 2-Like (NADH-Coenzyme Q Reductase)2
CI-39kD2 3     NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 9, Mitochondrial2
NADH-Ubiquinone Oxidoreductase 39 KDa Subunit2 3     Short Chain Dehydrogenase/Reductase Family 22E, Member 12
NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 9 (39kD)1     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


Summaries
for NDUFA9 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 NDUFA9:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009759.16  
Regulatory elements:
   SABiosciences 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 plasmid: NDUFA9 promoter sequence
   Search SABiosciences Chromatin IP Primers for NDUFA9

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC12P004714:  view genomic region     (about GC identifiers)

Start:
 4,714,110 bp from pter      End:
 4,798,454 bp from pter
Size:
 84,345 bases      Orientation:
 plus strand

Proteins
for NDUFA9 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: 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)
Subcellular location: Mitochondrion matrix
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

Post-translational modifications:

  • Acetylated on lysine residues. BLOC1S1 is required for acetylation1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q16795

    • NDUFA9 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004993.1  
    ENSEMBL proteins: 
     ENSP00000445121   ENSP00000266544   ENSP00000440305   ENSP00000439818  
    Reactome Protein details: Q16795
    Human Recombinant Protein Products: 
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    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    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



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    Protein Domains /
    Families
    for NDUFA9 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NDUFA9 for domains           About GeneDecksing

    2 InterPro domains/families:
     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


    Function
    for NDUFA9 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: 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

    miRNA
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    Gene Editing
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    Clone
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    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:00038543-beta-hydroxy-delta5-steroid dehydrogenase activity ----
    GO:0003954NADH dehydrogenase activity NAS8486360
    GO:0005515protein binding IPI--
    GO:0008137NADH dehydrogenase (ubiquinone) activity NAS9878551


    NDUFA9 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for NDUFA9:
     Synthetic lethal with Ras 


    Pathways & Interactions
    for NDUFA9 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

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 BioSystems Pathways for NDUFA9 
        Oxidative phosphorylation
    Electron Transport Chain

    4        Reactome Pathways for NDUFA9
        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


    5         Kegg Pathways  (Kegg details for NDUFA9):
        Oxidative phosphorylation
    Metabolic pathways
    Alzheimer's disease
    Parkinson's disease
    Huntington's disease


    NDUFA9 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NDUFA9

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

    5/291 Interacting proteins for NDUFA9 (Q167951, 2, 3 ENSP000002665444) via UniProtKB, MINT, STRING, and/or I2D (see all 291)
    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): 5 biological process terms (GO ID links to tree view):    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:0044281small molecule metabolic process TAS--


    NDUFA9 for ontologies           About GeneDecksing



    Drugs & Compounds
    for NDUFA9 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
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for NDUFA9

    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

    Search CenterWatch for drugs/clinical trials and news about NDUFA9 / NDUA9 

    Transcripts
    for NDUFA9 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 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
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000536588 ENST00000539573 ENST00000266544(uc001qnc.3 uc010ses.2)
    ENST00000542369 ENST00000396655(uc009zei.2) ENST00000544679 ENST00000535050
    ENST00000535726 ENST00000544675 ENST00000540688

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    Additional cDNA sequence: 

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

    24/28 DOTS entries (see all 28):

    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.121625677  DT.421153  DT.91771913  DT.95229789  DT.95267870 

    24/93 AceView cDNA sequences (see all 93):

    BQ015706 BI259368 BQ681708 CF597588 AW952596 BM468462 CF131775 BM689412 
    BM542288 AA113868 BQ639461 BU542655 AA085509 BM792657 AF050641 BU601199 
    AA830814 CR618831 N71958 BM739552 AA155645 BQ427547 BU154009 BE792808 

    GeneLoc Exon Structure


    Expression
    for NDUFA9 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

    NDUFA9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGGTTTGAGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    NDUFA9 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    OvaryPrimary FolliclePrimary OocyteFemale Gametocytes, Germ Cells
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See NDUFA9 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NDUFA9

    SOURCE GeneReport for Unigene cluster: Hs.75227
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    In Situ
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    Orthologs
    for NDUFA9 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 NDUFA9 gene from 9/33 species (see all 33)    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 --
    --
    		 --
    		 67(a)
    63(a)
    		 many → 1
    many → 1
    		 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
    50.83(n)1
    48.62(a)1    		   77C63
    402721  NM_140977.11  NP_649234.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea Y53G8AL.21 , 3 Protein Y53G8AL.21 41(a)3
    49.25(n)1
    43.66(a)1    		   III(3313682-3320391)3
    1754291  NM_065274.41  NP_497675.11 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT2G203601 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex more 55.65(n)
    49.6(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
    for NDUFA9 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NDUFA9 gene
    ENSG000002556392  
    10 SIMAP similar genes for NDUFA9 using alignment to 4 protein entries:     NDUA9_HUMAN (see all proteins):
    DYRK4    DYRK1A    CDK11B    CDK10    CDK3    PRPF4B
    MAPK7    CDK12    CSNK2A2    PRKCG

    NDUFA9 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for NDUFA9
    PGOHUM00000246321


    Genomic Variants
    for NDUFA9 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

    10/812 NCBI SNPs in NDUFA9 are shown (see all 812)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs788360021,2
    		F,--4612995(+) TGGGGC/TTTGCT 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs619099631,2
    		--4613215(+) TCACAG/ACTAAC 1 -- us2k13Minor allele frequency- A:0.04NA WA 240
    rs1119039651,2
    		--4613561(+) CCGAAC/GAAGGA 1 -- us2k12Minor allele frequency- G:0.04CSA WA 120
    rs770068351,2
    		--4613756(+) AAGATA/CGAGTG 1 -- us2k10--------
    rs732594721,2
    		C,F,--4613821(+) CACAGG/CCCTTT 1 -- us2k13Minor allele frequency- C:0.09WA 122
    rs803369041,2
    		F,--4613984(+) GCAATC/ATGGAG 1 -- us2k11Minor allele frequency- A:0.03NA 120
    rs730415741,2
    		C,F,--4614550(+) CCCCTC/GGTTCT 1 -- us2k11Minor allele frequency- G:0.08NA 120
    rs795427321,2
    		--4614698(+) GAGCTC/GTTCTA 1 -- us2k10--------
    rs118314611,2
    		C,H--4615258(+) TGCACC/TACCTT 1 -- int14Minor allele frequency- T:0.00NS EA 420
    rs122285051,2
    		H--4615759(+) TGGATC/TTGCTC 1 -- int14Minor allele frequency- T:0.00NS EA 416

    HapMap Linkage Disequilibrium report for NDUFA9 (4714110 - 4798454 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for NDUFA9: --
    Human Gene Mutation Database (HGMD): NDUFA9

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NDUFA9
    DNA2.0 Custom Variant and Variant Library Synthesis for NDUFA9

    Disorders / Diseases
    for NDUFA9 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
    NDUFA9 for disorders           About GeneDecksing

    OMIM gene information: 603834    OMIM disorders: --

    6 diseases for NDUFA9:    About MalaCards
    leigh disease    intrahepatic cholangiocarcinoma    huntington's disease    cholangiocarcinoma
    parkinson's disease    prostatitis

    Human Genome Epidemiology (HuGE) Navigator: NDUFA9 (5 documents)

    Export disorders for NDUFA9 gene to outside databases

    Publications
    for NDUFA9 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 NDUFA9 gene, integrated from 9 sources (see all 42):
    (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. (1993)
    2. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (2009)
    3. 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)
    4. 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)
    5. Purification of CpG islands using a methylated DNA binding column. (PubMed id 8012384)1, 2 Cross S.H.... Bird A.P. (1994)
    6. Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. (PubMed id 22114105)1 van den Bosch B.J....Smeets H.J. (2012)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    8. Identification of a molecular component of the mitoch ondrial acetyl transferase program; a novel role for GCN5L1. (PubMed id 22309213)2 Scott I....Sack M.N. (2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)

    External Searches for NDUFA9 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing NDUFA9 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4704 HGNC: 7693 AceView: NDUFA9 Ensembl:ENSG00000139180 euGenes: HUgn4704
    ECgene: NDUFA9 Kegg: 4704 H-InvDB: NDUFA9

    Other Databases showing NDUFA9 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NDUFA9 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 NDUFA9 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for NDUFA9 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



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