Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



NDUFA4 Gene

protein-coding   GIFtS: 59
GCID: GC07M010938

NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 4, 9kDa

(Previous names: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4 (9kD,...)
Alzheimer's & Parkinson's Diseases Congress
  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)
About This Section

TryGeneCards Plus

Aliases
NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 4, 9kDa1 2     NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 4 (9kD, MLRQ)1
NADH-Ubiquinone Oxidoreductase MLRQ Subunit1 2 3     CI-9k2
Complex I 9kDa Subunit1 2     MLRQ2
Complex I-MLRQ2 3     NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 42
CI-MLRQ2 3     

External Ids:    HGNC: 76871   Entrez Gene: 46972   Ensembl: ENSG000001890437   OMIM: 6038335   UniProtKB: O004833   

Export aliases for NDUFA4 gene to outside databases

Previous GC identifers: GC07M010617 GC07M010717 GC07M010746


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for NDUFA4 Gene:
The protein encoded by this gene belongs to the complex I 9kDa subunit family. Mammalian complex I of
mitochondrial respiratory chain is composed of 45 different subunits. This protein has NADH dehydrogenase
activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate
electron acceptor for the enzyme is believed to be ubiquinone. (provided by RefSeq, Jul 2008)

GeneCards Summary for NDUFA4 Gene:
NDUFA4 (NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa) is a protein-coding gene. Diseases associated with NDUFA4 include cerebellar disease, and dandy-walker syndrome. GO annotations related to this gene include cytochrome-c oxidase activity and NADH dehydrogenase (ubiquinone) activity. An important paralog of this gene is NDUFA4L2.

UniProtKB/Swiss-Prot: NDUA4_HUMAN, O00483
Function: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that
is believed to be not 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




(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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000007.14  NC_018918.2  NT_007819.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the NDUFA4 gene promoter:
         GR   COUP-TF1   COUP   HNF-4alpha2   CUTL1   LCR-F1   HNF-4alpha1   COUP-TF   FOXJ2 (long isoform)   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNDUFA4 promoter sequence
   Search Chromatin IP Primers for NDUFA4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NDUFA4


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

Entrez Gene cytogenetic band: 7p21.3   Ensembl cytogenetic band:  7p21.3   HGNC cytogenetic band: 7p21.3

NDUFA4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDUFA4 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M010938:  view genomic region     (about GC identifiers)

Start:
10,971,578 bp from pter      End:
10,979,883 bp from pter
Size:
8,306 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 11,025,124-11,033,358     

(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.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: NDUA4_HUMAN, O00483 (See protein sequence)
Recommended Name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4  
Size: 81 amino acids; 9370 Da
Subunit: Mammalian complex I is composed of 45 different subunits
Secondary accessions: A4D109 Q6FHN5

Explore the universe of human proteins at neXtProt for NDUFA4: NX_O00483

Explore proteomics data for NDUFA4 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys55, Lys63, Lys73, Lys75
  • Modification sites at PhosphoSitePlus

  • See NDUFA4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002480.1  
    ENSEMBL proteins: 
     ENSP00000339720  
    Reactome Protein details: O00483

    NDUFA4 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for NDUFA4
    OriGene Protein Over-expression Lysate for NDUFA4
    OriGene MassSpec for NDUFA4
    OriGene Custom Protein Services for NDUFA4
    GenScript Custom Purified and Recombinant Proteins Services for NDUFA4
    Novus Biologicals NDUFA4 Protein
    Novus Biologicals NDUFA4 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    NDUFA4 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for NDUFA4
    OriGene Custom Antibody Services for NDUFA4
    Novus Biologicals NDUFA4 Antibodies
    Abcam antibodies for NDUFA4
    Browse Antibodies at Cloud-Clone Corp.
    Search ThermoFisher Antibodies for NDUFA4
    LSBio Antibodies in human, mouse, rat for NDUFA4

    NDUFA4 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for NDUFA4
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for NDUFA4
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    comI: Mitochondrial respiratory chain complex / Complex I

    1 InterPro protein domain:
     IPR010530 B12D

    Graphical View of Domain Structure for InterPro Entry O00483

    ProtoNet protein and cluster: O00483

    UniProtKB/Swiss-Prot: NDUA4_HUMAN, O00483
    Similarity: Belongs to the complex I NDUFA4 subunit family


    NDUFA4 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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NDUA4_HUMAN, O00483
    Function: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that
    is believed to be not 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 Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004129contributes to cytochrome-c oxidase activity IMP--
    GO:0008137NADH dehydrogenase (ubiquinone) activity NAS9878551
    GO:0032403protein complex binding IDA--
         
    NDUFA4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for NDUFA4:
     Increased G2M DNA content 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NDUFA4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NDUFA4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NDUFA4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NDUFA4

    miRNA
    Products:
        
    miRTarBase miRNAs that target NDUFA4:
    hsa-mir-147b (MIRT037742), hsa-mir-186-5p (MIRT045020), hsa-mir-16-5p (MIRT031645), hsa-mir-7-5p (MIRT025792), hsa-mir-145-5p (MIRT021524)

    Block miRNA regulation of human, mouse, rat NDUFA4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NDUFA4 (see all 23):
    hsa-miR-4291 hsa-miR-875-3p hsa-miR-513c hsa-miR-642b hsa-miR-3148 hsa-miR-1299 hsa-miR-877 hsa-miR-3606
    SwitchGear 3'UTR luciferase reporter plasmidNDUFA4 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NDUFA4
    Predesigned siRNA for gene silencing in human, mouse, rat NDUFA4

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NDUFA4

    Clone
    Products:
         
    OriGene clones in human, mouse for NDUFA4 (see all 7)
    OriGene ORF clones in mouse, rat for NDUFA4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NDUFA4 (NM_002489)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NDUFA4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NDUFA4

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for NDUFA4
    Browse ESI BIO Cell Lines and PureStem Progenitors for NDUFA4 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFA4


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    NDUA4_HUMAN, O00483: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol1
    extracellular1
    golgi apparatus1
    nucleus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA16729965
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005747mitochondrial respiratory chain complex I NAS9878551
    GO:0005751mitochondrial respiratory chain complex IV IDA--

    NDUFA4 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).
    About This Section

    TryGeneCards Plus

    SuperPaths for NDUFA4 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 NDUFA4
        Oxidative phosphorylation
    Electron Transport Chain

    1 Reactome Pathway for NDUFA4
        Respiratory electron transport


    Selected Kegg Pathways  (Kegg details for NDUFA4) (see all 6):
        Oxidative phosphorylation
    Metabolic pathways
    Non-alcoholic fatty liver disease (NAFLD)
    Alzheimer's disease
    Parkinson's disease


    NDUFA4 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including NDUFA4: 
              Mitochondrial Energy Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for NDUFA4

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

    Selected Interacting proteins for NDUFA4 (O004832, 3 ENSP000003397204) via UniProtKB, MINT, STRING, and/or I2D (see all 121)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PARP2Q9UGN52, 3, ENSP000002504164MINT-8202021 I2D: score=1 STRING: ENSP00000250416
    NDUFA2O436783, ENSP000002521024I2D: score=1 STRING: ENSP00000252102
    WRAP73Q9P2S53, ENSP000002707084I2D: score=1 STRING: ENSP00000270708
    AGO2Q9UKV82, ENSP000002205924MINT-6489217 STRING: ENSP00000220592
    TSC22D1Q157143, ENSP000003974354I2D: score=1 STRING: ENSP00000397435
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006120mitochondrial electron transport, NADH to ubiquinone NAS9878551
    GO:0022904respiratory electron transport chain TAS--
    GO:0044237cellular metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:1902600hydrogen ion transmembrane transport IMP--

    NDUFA4 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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NDUFA4 (NDUA4)

    8 HMDB Compounds for NDUFA4    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 NDUFA4    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423



    (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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for NDUFA4 gene: 
    NM_002489.3  

    Unigene Cluster for NDUFA4:

    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa
    Hs.50098  [show with all ESTs]
    Unigene Representative Sequence: BX538277
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000339600(uc003srx.2) ENST00000482299 ENST00000470761 ENST00000486007
    ENST00000463308 ENST00000492822

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat NDUFA4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NDUFA4 (see all 23):
    hsa-miR-4291 hsa-miR-875-3p hsa-miR-513c hsa-miR-642b hsa-miR-3148 hsa-miR-1299 hsa-miR-877 hsa-miR-3606
    SwitchGear 3'UTR luciferase reporter plasmidNDUFA4 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for NDUFA4
    Predesigned siRNA for gene silencing in human, mouse, rat NDUFA4
    Clone
    Products:
         
    OriGene clones in human, mouse for NDUFA4 (see all 7)
    OriGene ORF clones in mouse, rat for NDUFA4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NDUFA4 (NM_002489)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NDUFA4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NDUFA4
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for NDUFA4
    OriGene qSTAR qPCR primer pairs in human, mouse for NDUFA4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NDUFA4
      QuantiTect SYBR Green Assays in human, mouse, rat NDUFA4
      QuantiFast Probe-based Assays in human, mouse, rat NDUFA4

    Additional mRNA sequence: 

    AF201077.1 AK024837.1 AK130950.1 BC101794.1 BC101796.1 BC105295.1 BX538277.1 CR407618.1 
    CR541716.1 U94586.1 

    Selected DOTS entries (see all 38):

    DT.75193342  DT.102833469  DT.92020887  DT.95268814  DT.91671299  DT.95268816  DT.121098743  DT.101962617 
    DT.121098764  DT.121098741  DT.91792998  DT.100032236  DT.101985561  DT.91681103  DT.121098751  DT.100045412 
    DT.100828319  DT.100828321  DT.121098734  DT.91662534  DT.91870631  DT.95236116  DT.97864725  DT.100828315 

    Selected AceView cDNA sequences (see all 953):

    N28630 AA047458 T99627 H87970 CB108162 BQ948706 F00382 CB114108 
    BM994466 CR407618 AI470128 AA953284 AA400793 CD676114 W70216 BF029844 
    BQ421468 N23956 BM743513 F31783 CB109068 AI360168 BM782400 AI144151 

    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)
    About This Section

    TryGeneCards Plus

    NDUFA4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGGAGATCT
    NDUFA4 Expression
    About this image


    NDUFA4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Thymus (Hematopoietic System)
             Thymus
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Adipose (Muscoskeletal System)
             Thoracic Perivascular Adipose
     
     Bone (Muscoskeletal System)
             Membranous Facial Bones
    NDUFA4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NDUFA4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.50098
        Pathway & Disease-focused RT2 Profiler PCR Array including NDUFA4: 
              Mitochondrial Energy Metabolism in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for NDUFA4
    OriGene qSTAR qPCR primer pairs in human, mouse for NDUFA4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NDUFA4
    QuantiTect SYBR Green Assays in human, mouse, rat NDUFA4
    QuantiFast Probe-based Assays in human, mouse, rat NDUFA4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFA4

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for NDUFA4 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ndufa41 , 5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more1, 5 86.42(n)1
    88.89(a)1
      6 (5.01 cM)5
    179921  NM_010886.21  NP_035016.11 
     119003735 
    chicken
    (Gallus gallus)
    Aves NDUFA41 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more 76.13(n)
    76.54(a)
      772135  XM_001234600.3  XP_001234601.2 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.238552 Xenopus laevis transcribed sequence with weak similarity more 71.85(n)    CB984165.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ndufa41 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more 64.61(n)
    74.07(a)
      406298  NM_213025.1  NP_998190.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG322306
    --
    51(a)
    1 → many
    3L(23332426-23339038)


    ENSEMBL Gene Tree for NDUFA4 (if available)
    TreeFam Gene Tree for NDUFA4 (if available)

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

    TryGeneCards Plus
    Paralogs for NDUFA4 gene
    NDUFA4L22  
    2 SIMAP similar genes for NDUFA4 using alignment to 1 protein entry:     NDUA4_HUMAN:
    NDUFA4L2    NMES1

    NDUFA4 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for NDUFA4 (see all 26)
    PGOHUM00000238366 PGOHUM00000242291 PGOHUM00000239719 PGOHUM00000247895 PGOHUM00000261851


    (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

    TryGeneCards Plus

    Selected SNPs for NDUFA4 (see all 305)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1491611331,2
    C--10971171(+) CAGAAC/TAGCTT 1 -- ds50010--------
    rs78116471,2
    C,F--10971180(+) ttgaaC/Ttcagg 1 -- ds50011Minor allele frequency- T:0.50WA 2
    rs77986691,2
    C,F--10971336(+) TGTTAC/TCTTTC 1 -- ds50011Minor allele frequency- T:0.50WA 2
    rs1414479781,2
    --10971352(+) AGCATG/TGGTAT 1 -- ds50010--------
    rs1912908181,2
    --10971376(+) AAATGA/CCAATT 1 -- ds50010--------
    rs171637811,2
    C,F--10971416(+) TAGCAG/ATAATA 1 -- ds50016Minor allele frequency- A:0.08NA CSA WA EA 376
    rs1837276331,2
    --10971438(+) AAGACA/GTATCC 1 -- ds50010--------
    rs761831151,2
    --10971462(+) ACTTCA/GTATGT 1 -- ds50010--------
    rs1480592131,2
    --10971476(+) CTTACA/GTTGCA 1 -- ds50010--------
    rs69662701,2
    C,F--10971571(+) GTTATT/CACTAA 1 -- ds50012Minor allele frequency- C:0.10WA 120

    HapMap Linkage Disequilibrium report for NDUFA4 (10971578 - 10979883 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for NDUFA4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv464364CNV Loss19166990
    nsv887600CNV Gain21882294
    esv2752140CNV Gain17911159
    nsv887601CNV Gain21882294

    Human Gene Mutation Database (HGMD): NDUFA4
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing NDUFA4
    DNA2.0 Custom Variant and Variant Library Synthesis for NDUFA4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 603833    OMIM disorders: --

    11 diseases for NDUFA4:    
    About MalaCards
    cerebellar disease    dandy-walker syndrome    cytochrome-c oxidase deficiency disease    labyrinthitis
    fatty liver disease    huntington's disease    parkinson's disease    liver disease
    alzheimer's disease    cerebritis    thyroiditis

    1 disease from the University of Copenhagen DISEASES database for NDUFA4:
    Dandy-Walker syndrome

    NDUFA4 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): NDUFA4
    Human Genome Epidemiology (HuGE) Navigator: NDUFA4 (2 documents)

    Export disorders for NDUFA4 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

    TryGeneCards Plus

    PubMed articles for NDUFA4 gene, integrated from 10 sources (see all 25):
    (articles sorted by number of sources associating them with NDUFA4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of the human cDNA sequence encoding the NADH:ubiquinone oxidoreductase MLRQ subunit. (PubMed id 9352085)1, 2, 3 Kim J.W.... Choe I.S. (Biochem. Mol. Biol. Int. 1997)
    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 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)
    4. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
    5. 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)
    6. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    7. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)
    8. Novel, gel-free proteomics approach identifies RNF5 and JAMP as modulators of GPCR stability. (PubMed id 23798571)1 Roy S.J....Parent J.L. (Mol. Endocrinol. 2013)
    9. SGTA recognizes a noncanonical ubiquitin-like domain in the Bag6-Ubl4A-Trc35 complex to promote endoplasmic reticulum-associated degradation. (PubMed id 23246001)1 Xu Y....Ye Y. (Cell Rep 2012)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 4697 HGNC: 7687 AceView: NDUFA4 Ensembl:ENSG00000189043 euGenes: HUgn4697
    ECgene: NDUFA4 Kegg: 4697 H-InvDB: NDUFA4

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for NDUFA4 Pharmacogenomics, SNPs, Pathways

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

    TryGeneCards Plus
    Patent Information for NDUFA4 gene:
    Search GeneIP for patents involving NDUFA4

    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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for NDUFA4   OriGene RNAi products in human, mouse, rat for NDUFA4  
     OriGene qPCR primer pairs and template standards for NDUFA4   OriGene Protein Over-expression Lysate for NDUFA4  
     OriGene MassSpec something-or-other for NDUFA4   OriGene clones in human, mouse for NDUFA4  
     OriGene qSTAR qPCR primer pairs in human, mouse for NDUFA4   OriGene Purified Protein for NDUFA4  
     OriGene ORF clones in mouse, rat for NDUFA4   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for NDUFA4   OriGene Custom Protein Services for NDUFA4  

     
     
     Block miRNA regulation of human, mouse, rat NDUFA4 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing NDUFA4
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NDUFA4 Predesigned siRNA for gene silencing in human, mouse, rat NDUFA4
     QuantiFast Probe-based Assays in human, mouse, rat NDUFA4 QuantiTect SYBR Green Assays in human, mouse, rat NDUFA4
     PCR Arrays including human, mouse, rat NDUFA4 Search Chromatin IP Primers for NDUFA4
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NDUFA4  Search GeneGlobe Interaction Network for NDUFA4
     Regulatory tfbs in NDUFA4 promoter
     GenScript Custom Purified and Recombinant Proteins Services for NDUFA4 GenScript cDNA clones with any tag delivered in your preferred vector for NDUFA4
     GenScript Custom Assay Services for NDUFA4 GenScript Custom overexpressing Cell Line Services for NDUFA4
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for NDUFA4 (NDUA4)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     NDUFA4 antibodies
     NDUFA4 proteins
     NDUFA4 lysates
     Antibodies for NDUFA4
     See all of Abcam's Antibodies, Kits and Proteins for NDUFA4
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.



     Browse ESI BIO Cell Lines and PureStem Progenitors for NDUFA4
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFA4
     SwitchGear 3'UTR luciferase reporter plasmids for NDUFA4
     SwitchGear Promoter luciferase reporter plasmids for NDUFA4
     Search ThermoFisher Antibodies for NDUFA4
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NDUFA4
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NDUFA4
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NDUFA4
     LSBio Antibodies in human, mouse, rat for NDUFA4
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      NDUFA4 gene at Home site.
    Version: 3.12.142 28 July 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4