Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



NDUFAF4 Gene

protein-coding   GIFtS: 54
GCID: GC06M097337

NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor...

(Previous names: chromosome 6 open reading frame 66, NADH dehydrogenase (ubiquinone)...)
(Previous symbol: C6orf66)
  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) Complex I, Assembly Factor 41 2     Chromosome 6 Open Reading Frame 661
C6orf661 2 3 5     My0132
HRPAP202 3 5     bA22L21.12
NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, Assembly Factor 41 2     Hormone-Regulated Proliferation-Associated Protein, 20 KDa2
Hormone-Regulated Proliferation-Associated Protein Of 20 KDa2 3     NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Assembly Factor 42

External Ids:    HGNC: 210341   Entrez Gene: 290782   Ensembl: ENSG000001235457   OMIM: 6117765   UniProtKB: Q9P0323   

Export aliases for NDUFAF4 gene to outside databases

Previous GC identifers: GC06M097446 GC06M094771


(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 NDUFAF4 Gene:
NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme
Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the
inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene are a cause
of mitochondrial complex I deficiency. (provided by RefSeq, Oct 2009)

GeneCards Summary for NDUFAF4 Gene:
NDUFAF4 (NADH dehydrogenase (ubiquinone) complex I, assembly factor 4) is a protein-coding gene. Diseases associated with NDUFAF4 include mitochondrial complex i deficiency, and leber hereditary optic neuropathy. GO annotations related to this gene include calmodulin binding.

UniProtKB/Swiss-Prot: NDUF4_HUMAN, Q9P032
Function: Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). May be
involved in cell proliferation and survival of hormone-dependent tumor cells. May be a regulator of breast tumor
cell invasion




(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_000006.12  NC_018917.2  NT_025741.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the NDUFAF4 gene promoter:
         Bach1   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   AREB6   POU2F1   POU2F1b   POU2F1a   POU2F1c   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for NDUFAF4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NDUFAF4


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

Entrez Gene cytogenetic band: 6q16.1   Ensembl cytogenetic band:  6q16.1   HGNC cytogenetic band: 6q16.3

NDUFAF4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDUFAF4 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M097337:  view genomic region     (about GC identifiers)

Start:
97,337,187 bp from pter      End:
97,345,767 bp from pter
Size:
8,581 bases      Orientation:
minus 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.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: NDUF4_HUMAN, Q9P032 (See protein sequence)
Recommended Name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4  
Size: 175 amino acids; 20266 Da
Subunit: Binds calmodulin. Interacts with NDUFAF3
Secondary accessions: B2R4J5

Explore the universe of human proteins at neXtProt for NDUFAF4: NX_Q9P032

Explore proteomics data for NDUFAF4 at MOPED

Post-translational modifications: 

  • Phosphorylated on serine. Prolactin stimulate serine phosphorylation (By similarity)1
  • Ubiquitination2 at Lys51, Lys60, Lys66, Lys91, Lys97, Lys107
  • Modification sites at PhosphoSitePlus

  • See NDUFAF4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_054884.1  
    ENSEMBL proteins: 
     ENSP00000358272  

    NDUFAF4 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 NDUFAF4
    OriGene Protein Over-expression Lysate for NDUFAF4
    OriGene MassSpec for NDUFAF4
    OriGene Custom Protein Services for NDUFAF4
    GenScript Custom Purified and Recombinant Proteins Services for NDUFAF4
    Novus Biologicals NDUFAF4 Protein
    Novus Biologicals NDUFAF4 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for NDUFAF4
    Browse Proteins at Cloud-Clone Corp.

    NDUFAF4 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for NDUFAF4
    OriGene Custom Antibody Services for NDUFAF4
    Novus Biologicals NDUFAF4 Antibodies
    Abcam antibodies for NDUFAF4
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for NDUFAF4
    LSBio Antibodies in human, mouse, rat for NDUFAF4

    NDUFAF4 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for NDUFAF4
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for NDUFAF4
    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:
    MITOAF: Mitochondrial respiratory chain complex assembly factors

    1 InterPro protein domain:
     IPR009622 NDUFAF4

    Graphical View of Domain Structure for InterPro Entry Q9P032

    ProtoNet protein and cluster: Q9P032

    1 Blocks protein domain: IPB009622 Protein of unknown function UPF0240

    UniProtKB/Swiss-Prot: NDUF4_HUMAN, Q9P032
    Similarity: Belongs to the NDUFAF4 family


    NDUFAF4 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: NDUF4_HUMAN, Q9P032
    Function: Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). May be
    involved in cell proliferation and survival of hormone-dependent tumor cells. May be a regulator of breast tumor
    cell invasion
    Induction: Expression is low in quiescent cells and is induced in exponentially proliferating cultures. Expression
    is also induced when prolactin is added to stationary cells. Induced by dietary differentiating agents such as
    butyrate and retinoic acid

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19463981
    GO:0005516calmodulin binding IEA--
         
    NDUFAF4 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NDUFAF4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NDUFAF4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NDUFAF4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NDUFAF4

    miRNA
    Products:
        
    miRTarBase miRNAs that target NDUFAF4:
    hsa-mir-16-5p (MIRT031750)

    Block miRNA regulation of human, mouse, rat NDUFAF4 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate NDUFAF4:
    hsa-miR-146a* hsa-miR-455-5p hsa-miR-24 hsa-miR-548aa
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NDUFAF4
    Predesigned siRNA for gene silencing in human, mouse, rat NDUFAF4

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NDUFAF4

    Clone
    Products:
         
    OriGene clones in human, mouse for NDUFAF4 (see all 6)
    OriGene ORF clones in mouse, rat for NDUFAF4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NDUFAF4 (NM_014165)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NDUFAF4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NDUFAF4

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for NDUFAF4
    Browse ESI BIO Cell Lines and PureStem Progenitors for NDUFAF4 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFAF4


    (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
    NDUF4_HUMAN, Q9P032: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol3
    nucleus2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0031966mitochondrial membrane IDA19463981

    NDUFAF4 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



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NDUFAF4
    Interactions:

        Search GeneGlobe Interaction Network for NDUFAF4

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for NDUFAF4 (Q9P0323 ENSP000003582724) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NDUFAF3Q9BU613, ENSP000003230764I2D: score=1 STRING: ENSP00000323076
    SQSTM1Q135013I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0032981mitochondrial respiratory chain complex I assembly IMP18179882

    NDUFAF4 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 NDUFAF4 (NDUF4)

    1 HMDB Compound for NDUFAF4    About this table
    CompoundSynonyms CAS #PubMed Ids
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--



    (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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for NDUFAF4 gene: 
    NM_014165.3  

    Unigene Cluster for NDUFAF4:

    NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
    Hs.512144  [show with all ESTs]
    Unigene Representative Sequence: NM_014165
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000316149(uc003pov.3 uc003pow.3) ENST00000478382 ENST00000489477

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat NDUFAF4 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate NDUFAF4:
    hsa-miR-146a* hsa-miR-455-5p hsa-miR-24 hsa-miR-548aa
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for NDUFAF4
    Predesigned siRNA for gene silencing in human, mouse, rat NDUFAF4
    Clone
    Products:
         
    OriGene clones in human, mouse for NDUFAF4 (see all 6)
    OriGene ORF clones in mouse, rat for NDUFAF4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NDUFAF4 (NM_014165)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NDUFAF4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NDUFAF4
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for NDUFAF4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NDUFAF4
      QuantiTect SYBR Green Assays in human, mouse, rat NDUFAF4
      QuantiFast Probe-based Assays in human, mouse, rat NDUFAF4

    Additional mRNA sequence: 

    AF060508.1 AF161474.1 AK026245.1 AK311850.1 BC018802.1 BC039464.1 

    6 DOTS entries:

    DT.86840984  DT.95272254  DT.97818658  DT.100780837  DT.121346749  DT.95281487 

    Selected AceView cDNA sequences (see all 147):

    AI864185 BX096390 BF112035 AI187014 BI963019 AI084350 CB159598 AI660691 
    BM689589 AI075248 CK903618 CB140302 AA846350 AI042346 AI379613 CD247264 
    BX460838 CB157886 AA594493 CA446432 BF577051 AL521129 CD673436 BI224879 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for NDUFAF4    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d
    SP1:              -     -     -                                       
    SP2:              -     -     -           -                           
    SP3:                    -     -           -                           
    SP4:                          -           -                           
    SP5:                                      -                           


    ECgene alternative splicing isoforms for NDUFAF4

    (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

    NDUFAF4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAAGAGCCG
    NDUFAF4 Expression
    About this image

    NDUFAF4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NDUFAF4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.512144
        Custom PCR Arrays for NDUFAF4
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for NDUFAF4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NDUFAF4
    QuantiTect SYBR Green Assays in human, mouse, rat NDUFAF4
    QuantiFast Probe-based Assays in human, mouse, rat NDUFAF4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFAF4

    (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 NDUFAF4 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ndufaf41 , 5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more1, 5 79.58(n)1
    72.83(a)1
      4 (10.52 cM)5
    684931  NM_026742.41  NP_081018.11 
     248980835 
    chicken
    (Gallus gallus)
    Aves NDUFAF41 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more 62.3(n)
    53.57(a)
      421802  XM_003641013.2  XP_003641061.1 
    lizard
    (Anolis carolinensis)
    Reptilia NDUFAF46
    NADH dehydrogenase (ubiquinone) complex I, assembl...
    47(a)
    1 ↔ 1
    1(173582119-173585828)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.333492 Xenopus laevis transcribed sequence with weak similarity more 76.87(n)    BI477869.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ndufaf41 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more 55.29(n)
    47.06(a)
      794169  XM_003200655.2  XP_003200703.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG117221 CG11722 45.55(n)
    36.02(a)
      41227  NM_141713.3  NP_649970.1 


    ENSEMBL Gene Tree for NDUFAF4 (if available)
    TreeFam Gene Tree for NDUFAF4 (if available)

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

    TryGeneCards Plus
    Paralogs for NDUFAF4 gene

    NDUFAF4 for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for NDUFAF4
    PGOHUM00000247112 PGOHUM00000244344 PGOHUM00000237588 PGOHUM00000233471


    (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 NDUFAF4 (see all 219)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0443294
    Mitochondrial complex I deficiency (MT-C1D)4--see VAR_0443292 L P mis40--------
    rs637510611,2
    Cpathogenic197343597(-) GTTTCC/TAAAAG 2 P L mis10--------
    rs624152811,2
    C,F--97335618(+) CAGGCG/ATCTCC 1 -- ds50013Minor allele frequency- A:0.03NA EA 242
    rs1489534191,2
    --97335670(+) CCAGAA/GTTCTA 1 -- ds50010--------
    rs1145055221,2
    C,F--97335693(+) ATATAC/G/TGGTGA 1 -- ds50011WA 118
    rs1841263801,2
    --97335732(+) TCAGGA/CACTTT 1 -- ds50010--------
    rs1436797781,2
    --97335744(+) CATGAA/CATCTC 1 -- ds50010--------
    rs1886366981,2
    --97335782(+) ACATAA/GCGTAT 1 -- ds50010--------
    rs1913163531,2
    --97335783(+) CATAGC/TGTATC 1 -- ds50010--------
    rs1510300031,2
    --97335944(+) ATACAC/TGTAAA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for NDUFAF4 (97337187 - 97345767 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for NDUFAF4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv886425CNV Loss21882294

    Human Gene Mutation Database (HGMD): NDUFAF4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NDUFAF4
    DNA2.0 Custom Variant and Variant Library Synthesis for NDUFAF4

    (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

    TryGeneCards Plus
    OMIM gene information: 611776   
    OMIM disorders: 252010  
    UniProtKB/Swiss-Prot: NDUF4_HUMAN, Q9P032
  • Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory
    chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset
    neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific
    encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and
    some forms of Parkinson disease. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 14 diseases for NDUFAF4:    
    About MalaCards
    mitochondrial complex i deficiency    leber hereditary optic neuropathy    mitochondrial encephalomyopathy    encephalomyopathy
    leukodystrophy    neuropathy    myopathy    liver disease
    parkinson's disease    thyroiditis    malaria    multiple myeloma
    myeloma    breast cancer

    1 disease from the University of Copenhagen DISEASES database for NDUFAF4:
    Mitochondrial encephalomyopathy

    NDUFAF4 for disorders           About GeneDecksing

    Genetic Association Database (GAD): NDUFAF4
    Human Genome Epidemiology (HuGE) Navigator: NDUFAF4 (1 document)

    Export disorders for NDUFAF4 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 NDUFAF4 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with NDUFAF4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. C6ORF66 is an assembly factor of mitochondrial complex I. (PubMed id 18179882)1, 2, 3 Saada A.... Elpeleg O. (Am. J. Hum. Genet. 2008)
    2. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2, 3 Zhang Q.-H.... Chen Z. (Genome Res. 2000)
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    4. Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)- interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. (PubMed id 19463981)1, 2 Saada A....Nijtmans L.G. (Am. J. Hum. Genet. 2009)
    5. HRPAP20: a novel calmodulin-binding protein that increases breast cancer cell invasion. (PubMed id 17001319)1, 2 Karp C.M.... Buckley A.R. (Oncogene 2007)
    6. Identification of HRPAP20: a novel phosphoprotein that enhances growth and survival in hormone-responsive tumor cells. (PubMed id 14871833)1, 2 Karp C.M.... Buckley A.R. (Cancer Res. 2004)
    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 DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    9. Oligonucleotide microarray analysis of estrogen receptor alpha-positive postmenopausal breast carcinomas: identification of HRPAP20 and TIMELESS as outstanding candidate markers to predict the response to tamoxifen. (PubMed id 17909269)1, 9 Tozlu-Kara S....BiA"che I. (J. Mol. Endocrinol. 2007)
    10. Replacement of the C6ORF66 assembly factor (NDUFAF4) restores complex I activity in patient cells. (PubMed id 23670274)1 Marcus D....Lorberboum-Galski H. (Mol. Med. 2013)

    (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: 29078 HGNC: 21034 AceView: C6orf66 Ensembl:ENSG00000123545 euGenes: HUgn29078
    ECgene: NDUFAF4 H-InvDB: NDUFAF4

    (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 NDUFAF4 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 NDUFAF4 gene:
    Search GeneIP for patents involving NDUFAF4

    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 NDUFAF4   OriGene RNAi products in human, mouse, rat for NDUFAF4  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for NDUFAF4  
     OriGene MassSpec something-or-other for NDUFAF4   OriGene clones in human, mouse for NDUFAF4  
     OriGene qSTAR qPCR primer pairs in human, mouse for NDUFAF4   OriGene Purified Protein for NDUFAF4  
     OriGene ORF clones in mouse, rat for NDUFAF4   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for NDUFAF4   OriGene Custom Protein Services for NDUFAF4  

     
     
     Block miRNA regulation of human, mouse, rat NDUFAF4 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing NDUFAF4
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NDUFAF4 Predesigned siRNA for gene silencing in human, mouse, rat NDUFAF4
     QuantiFast Probe-based Assays in human, mouse, rat NDUFAF4 QuantiTect SYBR Green Assays in human, mouse, rat NDUFAF4
     Custom PCR Arrays for NDUFAF4 Search Chromatin IP Primers for NDUFAF4
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NDUFAF4  Search GeneGlobe Interaction Network for NDUFAF4
     Regulatory tfbs in NDUFAF4 promoter
     GenScript Custom Purified and Recombinant Proteins Services for NDUFAF4 GenScript cDNA clones with any tag delivered in your preferred vector for NDUFAF4
     GenScript Custom Assay Services for NDUFAF4 GenScript Custom overexpressing Cell Line Services for NDUFAF4
     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 NDUFAF4 (NDUF4)
     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
     NDUFAF4 antibodies
     NDUFAF4 proteins
     NDUFAF4 lysates
     Antibodies for NDUFAF4
     See all of Abcam's Antibodies, Kits and Proteins for NDUFAF4
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for NDUFAF4
     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 NDUFAF4
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFAF4
     Browse SwitchGear 3'UTR luciferase reporter plasmids for NDUFAF4
     Browse SwitchGear Promoter luciferase reporter plasmids for NDUFAF4
     ThermoFisher Antibodies for NDUFAF4
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NDUFAF4
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NDUFAF4
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NDUFAF4
     LSBio Antibodies in human, mouse, rat for NDUFAF4
    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      NDUFAF4 gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4