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NDUFV3 Gene

protein-coding   GIFtS: 62
GCID: GC21P044299

NADH Dehydrogenase (Ubiquinone) Flavoprotein 3, 10kDa

(Previous name: NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD))
  See NDUFV3-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
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Aliases
NADH Dehydrogenase (Ubiquinone) Flavoprotein 3, 10kDa1 2     CI-9KD2
Complex I 10kDa Subunit1 2     Complex I, Mitochondrial Respiratory Chain, 10-KD Subunit2
Complex I-9kD2 3     Mitochondrial NADH Oxidoreductase-Like Protein2
Renal Carcinoma Antigen NY-REN-42 3     NADH Dehydrogenase [Ubiquinone] Flavoprotein 3, Mitochondrial2
NADH-Ubiquinone Oxidoreductase 9 KDa Subunit2 3     NADH-Ubiquinone Oxidoreductase 9 KD Subunit2
NADH Dehydrogenase (Ubiquinone) Flavoprotein 3 (10kD)1     NADH-Ubiquinone Oxidoreductase Flavoprotein 3, 10kD2
NADH-Ubiquinone Oxidoreductase 9 KD Subunit Precursor, EC 1.6.5.311     CI-9kD3
CI-10k2     

External Ids:    HGNC: 77191   Entrez Gene: 47312   Ensembl: ENSG000001601947   OMIM: 6021845   UniProtKB: P561813   

Export aliases for NDUFV3 gene to outside databases

Previous GC identifers: GC21P040847 GC21P043194 GC21P043193 GC21P043172


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NDUFV3 Gene:
The protein encoded by this gene is one of at least forty-one subunits that make up the NADH-ubiquinone
oxidoreductase complex. This complex is part of the mitochondrial respiratory chain and serves to catalyze the
rotenone-sensitive oxidation of NADH and the reduction of ubiquinone. The encoded protein is one of three
proteins found in the flavoprotein fraction of the complex. The specific function of the encoded protein is
unknown. Two transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq,
Jul 2008)

GeneCards Summary for NDUFV3 Gene:
NDUFV3 (NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa) is a protein-coding gene. Diseases associated with NDUFV3 include autosomal recessive nonsyndromic deafness. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot: NDUV3_HUMAN, P56181
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 NDUFV3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
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RefSeq DNA sequence at NCBI GenBank:
NC_000021.8  NC_018932.2  NT_011512.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the NDUFV3 gene promoter:
         ATF-2   E47   HEN1   PPAR-gamma1   POU2F1   POU2F1a   Hand1   PPAR-gamma2   c-Jun   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNDUFV3 promoter sequence

   Search Chromatin IP Primers for NDUFV3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NDUFV3


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

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band:   21q22.3
NDUFV3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDUFV3 gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21P044299:   GeneLoc Nature:405,311-319
Start:
44,299,754 bp from pter       29,860,728 bp from centromere
End:
44,333,414 bp from pter 29,876,602 bp from centromere
Size:
33,661 bases 15,875 bases
Orientation:
plus strand plus strand

Whole chromosome sequencing:
cDNA sequence: X99726X99727X99728
genomic clones: KB1405B7


(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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: NDUV3_HUMAN, P56181 (See protein sequence)
Recommended Name: NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial precursor  
Size: 108 amino acids; 11941 Da
Subunit: Complex I is composed of 45 different subunits. This is a component of the flavoprotein-sulfur (FP)
fragment of the enzyme
Secondary accessions: A8K0M1 J3KNX7 Q6FGD3 Q8WU60 Q9HCR5
Alternative splicing: 2 isoforms:  P56181-1   P56181-2   (Ref.7 (AAH21217) sequence is in conflict in position: 415:D->N. Contains a phosphoserine at position 164. Contains a phosphoserine at position 160. Contains a phosphoserine at position 162)

Explore the universe of human proteins at neXtProt for NDUFV3: NX_P56181

Explore proteomics data for NDUFV3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys127
  • Modification sites at PhosphoSitePlus

  • See NDUFV3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001001503.1  NP_066553.3  

    ENSEMBL proteins: 
     ENSP00000346196   ENSP00000342895  
    Reactome Protein details: P56181

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    comI: Mitochondrial respiratory chain complex / Complex I

    1 InterPro protein domain:
     IPR026193 NDUFV3

    Graphical View of Domain Structure for InterPro Entry P56181

    ProtoNet protein and cluster: P56181

    UniProtKB/Swiss-Prot: NDUV3_HUMAN, P56181
    Similarity: Belongs to the complex I NDUFV3 subunit family


    Find genes that share domains with NDUFV3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NDUV3_HUMAN, P56181
    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 NDUFV3:
    NADH ubiquinone dehydrogenase (Q reductase),component of the complex I multi-subunit of the phosphorylation
    (OXPHOS),flavoprotein 3,inner mitochondrial membrane,ubiquitously expressed

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008137NADH dehydrogenase (ubiquinone) activity NAS9878551
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with NDUFV3           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for NDUFV3

    miRNA
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    miRTarBase miRNAs that target NDUFV3:
    hsa-mir-30a-5p (MIRT028497), hsa-mir-92a-3p (MIRT049551), hsa-mir-17-3p (MIRT050773), hsa-mir-1226-3p (MIRT036526)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NDUV3_HUMAN, P56181: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus4
    cytosol2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005747mitochondrial respiratory chain complex I NAS9878551

    Find genes that share ontologies with NDUFV3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NDUFV3 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
    4FOXA1 transcription factor network
    FOXA1 transcription factor network


    Find genes that share SuperPaths with NDUFV3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for NDUFV3
        Oxidative phosphorylation
    Electron Transport Chain
    FOXA1 transcription factor network


    1 Reactome Pathway for NDUFV3
        Respiratory electron transport


    Selected Kegg Pathways  (Kegg details for NDUFV3) (see all 6):
        Oxidative phosphorylation
    Metabolic pathways
    Non-alcoholic fatty liver disease (NAFLD)
    Alzheimer's disease
    Parkinson's disease

        Pathway & Disease-focused RT2 Profiler PCR Array including NDUFV3: 
              Mitochondrial Energy Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for NDUFV3

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

    Selected Interacting proteins for NDUFV3 (P561813 ENSP000003461964) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NDUFA2O436783, ENSP000002521024I2D: score=1 STRING: ENSP00000252102
    PHYHIPQ925613, ENSP000003200174I2D: score=4 STRING: ENSP00000320017
    NDUFC1ENSP000003777704STRING: ENSP00000377770 STRING: ENSP00000265500
    CYC1ENSP000003171594STRING: ENSP00000317159
    MT-ND1ENSP000003546874STRING: ENSP00000354687
    About this table

    Gene Ontology (GO): 4 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--

    Find genes that share ontologies with NDUFV3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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      Browse compounds at ApexBio 

    Browse Tocris compounds for NDUFV3 (NDUV3)

    8 HMDB Compounds for NDUFV3    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 NDUFV3    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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NDUFV3 gene (2 alternative transcripts): 
    NM_001001503.1  NM_021075.3  

    Unigene Cluster for NDUFV3:

    NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa
    Hs.473937  [show with all ESTs]
    Unigene Representative Sequence: NM_021075
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000460259 ENST00000354250(uc002zcm.3) ENST00000340344(uc002zcn.3)
    ENST00000460740
    miRNA
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    Additional mRNA sequence: 

    AK056041.1 AK289586.1 AK308228.1 AY173949.1 BC021217.2 BC033766.1 BC054016.1 CR542174.1 
    CR542190.1 

    10 DOTS entries:

    DT.97759871  DT.100036648  DT.75103547  DT.95363881  DT.91831138  DT.121139842  DT.100036649  DT.101960934 
    DT.100700376  DT.75106687 

    Selected AceView cDNA sequences (see all 212):

    F32007 BF726930 BM683940 CR616335 AA725824 CF140521 AA877479 CB113244 
    BX354062 CB140449 BI908255 BU741849 AA478027 AA894770 BE465439 BQ001645 
    CR593887 BP336670 BM905262 BM475614 AA776726 BF765237 CR542190 CR613268 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NDUFV3 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6
    SP1:                          -                 -         
    SP2:                          -     -     -     -         
    SP3:                                                      
    SP4:                    -     -                           
    SP5:                    -     -     -     -     -         


    ECgene alternative splicing isoforms for NDUFV3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NDUFV3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTACAGCAC
    NDUFV3 Expression
    About this image


    NDUFV3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
     
     Eye (Sensory Organs)
             Lens
     
     Neural Tube (Nervous System)
             Telencephalon
    NDUFV3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NDUFV3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.473937
        Pathway & Disease-focused RT2 Profiler PCR Array including NDUFV3: 
              Mitochondrial Energy Metabolism in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFV3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for NDUFV3 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ndufv31 , 5 NADH dehydrogenase (ubiquinone) flavoprotein 31, 5 65.87(n)1
    52.06(a)1
      17 (16.64 cM)5
    783301  NM_030087.21  NP_084363.21 
     315201155 
    chicken
    (Gallus gallus)
    Aves NDUFV36
    Gallus gallus NADH dehydrogenase (ubiquinone) flav...
    26(a)
    1 ↔ 1
    1(108926008-108928938)
    zebrafish
    (Danio rerio)
    Actinopterygii wufl83h062 wufl83h06 81.34(n)   334568  BI878863.1 


    ENSEMBL Gene Tree for NDUFV3 (if available)
    TreeFam Gene Tree for NDUFV3 (if available)

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

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NDUFV3 (see all 628)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1923808621,2
    --44311381(+) AAGCCA/GAGATT 2 -- us2k10--------
    rs1850017301,2
    --44311410(+) TCTAGC/GCTGGG 2 -- us2k10--------
    rs1140286031,2
    F--44311508(+) CTGGCC/TGGTGA 2 -- us2k11Minor allele frequency- T:0.02WA 118
    rs130477791,2
    C,F--44311517(+) GACCAT/CGCCAG 2 -- us2k112Minor allele frequency- C:0.41NA WA CSA EA 385
    rs1866629891,2
    --44311561(+) TTGCAA/GCTCCA 2 -- us2k10--------
    rs1913652501,2
    --44311596(+) GTGCCC/TGCTGG 2 -- us2k10--------
    rs794451611,2
    --44311632(+) AGGTCC/GATGAA 2 -- us2k10--------
    rs1895691941,2
    --44311672(+) ATCAGG/TATCCC 2 -- us2k10--------
    rs130512881,2
    C,F--44311717(+) ACCTCC/ACAAAG 2 -- us2k13Minor allele frequency- A:0.33NA WA 6
    rs130508781,2
    C,F--44311718(+) CCTCAT/CAAAGG 2 -- us2k13Minor allele frequency- C:0.33NA WA 6

    HapMap Linkage Disequilibrium report for NDUFV3 (44299754 - 44333414 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for NDUFV3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2666871CNV Deletion23128226
    esv1340851CNV Insertion17803354
    esv2652948CNV Insertion19546169
    nsv187067CNV Insertion16902084
    esv1737156CNV Insertion17803354
    nsv834105CNV Loss17160897
    nsv913812CNV Gain21882294
    nsv913820CNV Gain21882294

    Human Gene Mutation Database (HGMD): NDUFV3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NDUFV3
    DNA2.0 Custom Variant and Variant Library Synthesis for NDUFV3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602184    OMIM disorders: --

    1 disease for NDUFV3:    
    About MalaCards
    autosomal recessive nonsyndromic deafness

    1 disease from the University of Copenhagen DISEASES database for NDUFV3:
    Down syndrome

    Find genes that share disorders with NDUFV3           About GenesLikeMe

    Genetic Association Database (GAD): NDUFV3
    Human Genome Epidemiology (HuGE) Navigator: NDUFV3 (5 documents)

    Export disorders for NDUFV3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NDUFV3 gene, integrated from 10 sources (see all 30):
    (articles sorted by number of sources associating them with NDUFV3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of the human mitochondrial NADH:oxidoreductase 10-kDa gene (NDUFV3). (PubMed id 9344673)1, 2, 3, 9 de Coo R.F.M.... van Oost B.A. (Genomics 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. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)1, 4 Saito A....Kamatani N. (J. Hum. Genet. 2009)
    4. Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey. (PubMed id 18977241)1, 4 Starr J.M....Deary I.J. (Mech. Ageing Dev. 2008)
    5. Polymorphisms in mitochondrial genes and prostate cancer risk. (PubMed id 19064571)1, 4 Wang L....Thibodeau S.N. (amp 2008)
    6. A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition. (PubMed id 17601350)1, 4 Harris S.E....Deary I.J. (BMC Genet. 2007)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. 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)
    10. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M.... Yaspo M.-L. (Nature 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4731 HGNC: 7719 AceView: NDUFV3 Ensembl:ENSG00000160194 euGenes: HUgn4731
    ECgene: NDUFV3 Kegg: 4731 H-InvDB: NDUFV3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NDUFV3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NDUFV3 gene:
    Search GeneIP for patents involving NDUFV3

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



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