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NDUFV1 Gene

protein-coding   GIFtS: 67
GCID: GC11P067374

NADH Dehydrogenase (Ubiquinone) Flavoprotein 1, 51kDa

(Previous name: NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD))
  See NDUFV1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
NADH Dehydrogenase (Ubiquinone) Flavoprotein 1, 51kDa1 2     Complex I, Mitochondrial Respiratory Chain2
UQOR12 3 5     Mitochondrial NADH Dehydrogenase Ubiquinone Flavoprotein 12
Complex I 51kDa Subunit1 2     Mitochondrial NADH:Ubiquinone Oxidoreductase 51 Kda Subunit2
NADH-Ubiquinone Oxidoreductase 51 KDa Subunit2 3     NADH Dehydrogenase [Ubiquinone] Flavoprotein 1, Mitochondrial2
mitochondrial1     CI-51kD3
NADH Dehydrogenase (Ubiquinone) Flavoprotein 1 (51kD)1     EC 1.6.5.33
NADH Dehydrogenase [Ubiquinone] Flavoprotein 11     EC 1.6.99.33
CI-51K2     Complex I-51kD3
CI51KD2     NADH Dehydrogenase Flavoprotein 13
Complex I 51 Kda Subunit2     EC 1.6.99.58

External Ids:    HGNC: 77161   Entrez Gene: 47232   Ensembl: ENSG000001677927   OMIM: 1610155   UniProtKB: P498213   

Export aliases for NDUFV1 gene to outside databases

Previous GC identifers: GC11P069897 GC11P069070 GC11P067624 GC11P067149 GC11P067130 GC11P063703


(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 NDUFV1 Gene:
The mitochondrial respiratory chain provides energy to cells via oxidative phosphorylation and consists of four
membrane-bound electron-transporting protein complexes (I-IV) and an ATP synthase (complex V). This gene encodes
a 51 kDa subunit of the NADH:ubiquinone oxidoreductase complex I; a large complex with at least 45 nuclear and
mitochondrial encoded subunits that liberates electrons from NADH and channels them to ubiquinone. This subunit
carries the NADH-binding site as well as flavin mononucleotide (FMN)- and Fe-S-biding sites. Defects in complex I
are a common cause of mitochondrial dysfunction; a syndrome that occurs in approximately 1 in 10,000 live births.
Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies, and neurodegenerative disorders
such as Parkinson's disease and Leigh syndrome. Alternative splicing results in multiple transcript variants
encoding distinct isoforms.(provided by RefSeq, Oct 2009)

GeneCards Summary for NDUFV1 Gene:
NDUFV1 (NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa) is a protein-coding gene. Diseases associated with NDUFV1 include alexander disease, and spastic diplegia. GO annotations related to this gene include NAD binding and NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot: NDUV1_HUMAN, P49821
Function: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is
believed to belong to the minimal assembly required for 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 (By similarity)

Gene Wiki entry for NDUFV1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NC_018922.2  NT_167190.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NDUFV1 gene promoter:
         Pax-5   Pbx1a   Pax-6   MyoD   LUN-1   Nkx2-5   GATA-2   HOXA5   Zic3   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNDUFV1 promoter sequence
   Search Chromatin IP Primers for NDUFV1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NDUFV1


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

Entrez Gene cytogenetic band: 11q13   Ensembl cytogenetic band:  11q13.2   HGNC cytogenetic band: 11q13

NDUFV1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDUFV1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P067374:  view genomic region     (about GC identifiers)

Start:
67,374,323 bp from pter      End:
67,380,012 bp from pter
Size:
5,690 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, 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: NDUV1_HUMAN, P49821 (See protein sequence)
Recommended Name: NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial precursor  
Size: 464 amino acids; 50817 Da
Cofactor: Binds 1 FMN (Potential)
Cofactor: Binds 1 4Fe-4S cluster (Potential)
Subunit: Complex I is composed of 45 different subunits. This is a component of the flavoprotein-sulfur (FP)
fragment of the enzyme
Secondary accessions: O60924 O60940 Q16104 Q6IBR3 Q96BF8 Q96HS7
Alternative splicing: 2 isoforms:  P49821-1   P49821-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NDUFV1: NX_P49821

Explore proteomics data for NDUFV1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for NDUFV1 (P49821)
     YIYIRGE  CTPCREG  SGLRGRGGAGF  GAGAYICGEETA 


    See NDUFV1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001159574.1  NP_009034.2  

    ENSEMBL proteins: 
     ENSP00000322450   ENSP00000432015   ENSP00000435202   ENSP00000436906   ENSP00000436766  
     ENSP00000431751   ENSP00000395368   ENSP00000434575   ENSP00000437267   ENSP00000434438  
     ENSP00000436936   ENSP00000434581   ENSP00000435199   ENSP00000432637  
    Reactome Protein details: P49821

    NDUFV1 Human Recombinant Protein Products:

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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

    5 InterPro protein domains:
     IPR011537 NADH-UbQ_OxRdtase_suF
     IPR011538 NADH_UbQ_OxRdtase_51kDa_su
     IPR019554 Soluble_ligand-bd
     IPR019575 NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd
     IPR001949 NADH-UbQ_OxRdtase_51kDa_CS

    Graphical View of Domain Structure for InterPro Entry P49821

    ProtoNet protein and cluster: P49821

    1 Blocks protein domain: IPB001949 Respiratory-chain NADH dehydrogenase

    UniProtKB/Swiss-Prot: NDUV1_HUMAN, P49821
    Similarity: Belongs to the complex I 51 kDa subunit family


    Find genes that share domains with NDUFV1           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: NDUV1_HUMAN, P49821
    Function: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is
    believed to belong to the minimal assembly required for 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 (By similarity)
    Catalytic activity: NADH + ubiquinone + 5 H(+)(In) = NAD(+) + ubiquinol + 4 H(+)(Out)
    Catalytic activity: NADH + acceptor = NAD(+) + reduced acceptor

         Genatlas biochemistry entry for NDUFV1:
    NADH ubiquinone dehydrogenase (Q reductase),component of the complex I multi-subunit enzyme of the oxidative
    phosphorylation (OXPHOS),flavoprotein 1,located at the inner mitochondrial membrane,expressed in testis and
    pancreas

         Enzyme Numbers (IUBMB): EC 1.6.99.31 EC 1.6.99.52 EC 1.6.5.31

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008137NADH dehydrogenase (ubiquinone) activity NAS8288251
    GO:0010181FMN binding IEA--
    GO:0016651oxidoreductase activity, acting on NAD(P)H ----
    GO:0046872metal ion binding IEA--
    GO:0051287NAD binding IEA--
         
    Find genes that share ontologies with NDUFV1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for NDUFV1:
     Decreased POU5F1-GFP protein e  Wnt reporter downregulated 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for NDUFV1

    miRNA
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    miRTarBase miRNAs that target NDUFV1:
    hsa-mir-484 (MIRT041953)

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    Sino Biological Human cDNA Clone for NDUFV1
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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
    NDUV1_HUMAN, P49821: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    Find genes that share ontologies with NDUFV1           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 NDUFV1 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
    4Metformin Pathway, Pharmacodynamic
    Metformin Pathway, Pharmacodynamic


    Find genes that share SuperPaths with NDUFV1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for NDUFV1
        Oxidative phosphorylation
    Electron Transport Chain


    1 Reactome Pathway for NDUFV1
        Respiratory electron transport

    1 PharmGKB Pathway for NDUFV1
        Metformin Pathway, Pharmacodynamic

    Selected Kegg Pathways  (Kegg details for NDUFV1) (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 NDUFV1: 
              Mitochondrial Energy Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for NDUFV1

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

    Selected Interacting proteins for NDUFV1 (P498212, 3 ENSP000003224504) via UniProtKB, MINT, STRING, and/or I2D (see all 298)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    NDUFA2O436783, ENSP000002521024I2D: score=1 STRING: ENSP00000252102
    NDUFA9Q167952, ENSP000002665444MINT-8079030 STRING: ENSP00000266544
    UQCRC1P319302, ENSP000002034074MINT-8079030 STRING: ENSP00000203407
    UQCRC2P226952, ENSP000002683794MINT-8079030 STRING: ENSP00000268379
    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:0055114oxidation-reduction process ----

    Find genes that share ontologies with NDUFV1           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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NDUFV1 (NDUV1)

    10 HMDB Compounds for NDUFV1    About this table
    CompoundSynonyms CAS #PubMed Ids
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    Flavin MononucleotideFMN (see all 19)146-17-8--
    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--
    Ubiquinol 8ubiquinol-8 (see all 2)56275-39-9--
    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 NDUFV1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--9571201 14662656 17139284 8288251 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 NDUFV1 gene (2 alternative transcripts): 
    NM_001166102.1  NM_007103.3  

    Unigene Cluster for NDUFV1:

    NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
    Hs.7744  [show with all ESTs]
    Unigene Representative Sequence: BM805902
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 28):
    ENST00000322776(uc001omk.4 uc001omj.2 uc010rpv.1) ENST00000532303(uc009yrz.1)
    ENST00000532244 ENST00000528328 ENST00000529927 ENST00000524876 ENST00000524838
    ENST00000532343 ENST00000415352(uc001oml.2) ENST00000528548 ENST00000532260
    ENST00000530014 ENST00000530103 ENST00000525086 ENST00000534139 ENST00000533075
    ENST00000529867 ENST00000526138
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    Additional mRNA sequence: 

    AF053070.1 AF092131.1 AK223061.1 AK293522.1 AK300726.1 AK310537.1 AK316122.1 BC007619.1 
    BC008146.1 BC015645.2 CR456739.1 S67973.1 

    Selected DOTS entries (see all 39):

    DT.453241  DT.100855678  DT.95081755  DT.115413  DT.120718781  DT.97862607  DT.100855693  DT.95099712 
    DT.100031602  DT.100855676  DT.95081770  DT.100855700  DT.120718775  DT.92360281  DT.92389849  DT.95152736 
    DT.100855686  DT.120718835  DT.100031605  DT.120718772  DT.120718828  DT.120718763  DT.120718778  DT.120718830 

    Selected AceView cDNA sequences (see all 1040):

    BG750385 CA447605 BE875842 F26385 CD369453 AW574600 BM828404 BP368315 
    F07247 BF976222 BP349519 AU105042 BM013516 AU105038 BF316104 AL532611 
    BQ434041 BU181732 F24914 AU105044 BE728449 BG741036 BP348093 BM789519 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NDUFV1 (see all 20)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b · 6c · 6d · 6e ^ 7 ^ 8a · 8b · 8c · 8d · 8e · 8f ^
    SP1:                                -     -     -     -     -                       -                                                                           
    SP2:                          -     -     -     -     -     -                       -                                                                           
    SP3:                          -     -     -     -     -     -                       -                                                                           
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 9a · 9b · 9c ^ 10a · 10b · 10c · 10d · 10e · 10f ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b
    SP1:                    -                                                                     
    SP2:                    -                                                                     
    SP3:                    -                                                                     
    SP4:        -     -                                                                           
    SP5:                    -     -     -     -                                                   


    ECgene alternative splicing isoforms for NDUFV1

    (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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    NDUFV1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGAATGCTG
    NDUFV1 Expression
    About this image


    NDUFV1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 21) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Thoracic Perivascular Adipose
     
     Ovary (Reproductive System)
             Primary Oocyte Primary Follicle
     
     Gonad
             Primary Oocyte Primary Follicle
     
     Bone (Muscoskeletal System)
             Bone Marrow
    NDUFV1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NDUFV1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.7744
        Pathway & Disease-focused RT2 Profiler PCR Array including NDUFV1: 
              Mitochondrial Energy Metabolism in human mouse rat

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

    Orthologs for NDUFV1 gene from Selected species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ndufv11 , 5 NADH dehydrogenase (ubiquinone) flavoprotein 11, 5 89.77(n)1
    96.25(a)1
      19 (3.72 cM)5
    179951  NM_133666.31  NP_598427.11 
     40074975 
    chicken
    (Gallus gallus)
    Aves NDUFV11 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa less 82.03(n)
    91.28(a)
      430210  NM_001031583.1  NP_001026754.1 
    lizard
    (Anolis carolinensis)
    Reptilia NDUFV16
    NADH dehydrogenase (ubiquinone) flavoprotein 1, 51...
    85(a)
    1 ↔ 1
    1(90638607-90646283)
    African clawed frog
    (Xenopus laevis)
    Amphibia ndufv1-prov2 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa less 76.86(n)    BC041320.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CF348212.12   -- 79.13(n)    CF348212.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG91401 , 3 NADH dehydrogenase (ubiquinone)3
    CG91401
    85(a)
    (best of 3)3
    73.19(n)1
    83.11(a)1
      338521  NM_135143.21  NP_608987.11 
    worm
    (Caenorhabditis elegans)
    Secernentea nuo-11 nuo-1 67.49(n)
    79.87(a)
      174696  NM_063975.3  NP_496376.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CI511 CI51 67.22(n)
    76(a)
      830752  NM_120938.3  NP_196470.1 
    rice
    (Oryza sativa)
    Liliopsida Os.73592 Oryza sativa (japonica cultivar-group) cDNA cloneJ023117I06, full insert sequence less 75.11(n)    AK065185.1 


    ENSEMBL Gene Tree for NDUFV1 (if available)
    TreeFam Gene Tree for NDUFV1 (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 NDUFV1 (see all 154)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0195344
    Mitochondrial complex I deficiency (MT-C1D)4--see VAR_0195342 E K mis40--------
    VAR_0088464
    Mitochondrial complex I deficiency (MT-C1D)4--see VAR_0088462 A V mis40--------
    VAR_0088474
    Leigh syndrome (LS)4--see VAR_0088472 T M mis40--------
    rs1467077001,2
    C,F--67292099(+) TAGGTG/ACTCCA 2 -- us2k12Minor allele frequency- A:0.00NA EU 4933
    rs124213291,2
    C,F,A,H--67292108(+) CAGTGG/TGTGGG 2 -- us2k129Minor allele frequency- T:0.33NS EA NA WA CSA EU 7436
    rs127938321,2
    C,F,H--67292224(+) GGCTCA/CTCATT 2 -- us2k123Minor allele frequency- C:0.31NS EA NA WA CSA 2349
    rs734905641,2
    C,F--67292271(+) ACATGG/ACAAGT 2 -- us2k12Minor allele frequency- A:0.04WA 120
    rs775008821,2
    C,F--67292444(+) CCACCC/TGCTGG 2 -- us2k11Minor allele frequency- T:0.04NA 120
    rs1854145061,2
    C--67292501(+) CGAGGA/TCTCAG 2 -- us2k10--------
    rs1898339631,2
    --67292517(+) AGCCCC/GGATTA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for NDUFV1 (67374323 - 67380012 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for NDUFV1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2422195CNV Duplication17116639
    dgv1197n71CNV Loss21882294
    dgv154n27CNV Loss19166990
    dgv1194n71CNV Loss21882294
    dgv1198n71CNV Loss21882294
    nsv897815CNV Loss21882294
    nsv897801CNV Loss21882294
    dgv1196n71CNV Loss21882294
    dgv1199n71CNV Loss21882294
    nsv468606CNV Gain19166990

    Human Gene Mutation Database (HGMD): NDUFV1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NDUFV1
    DNA2.0 Custom Variant and Variant Library Synthesis for NDUFV1

    (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: 161015   
    OMIM disorders: 252010  
    UniProtKB/Swiss-Prot: NDUV1_HUMAN, P49821
  • Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by
    the presence of focal, bilateral lesions in one or more areas of the central nervous system including the
    brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the
    central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia,
    weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • 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

  • 9 diseases for NDUFV1:    
    About MalaCards
    alexander disease    spastic diplegia    mitochondrial complex i deficiency    leigh syndrome due to cytochrome c oxidase deficiency
    leigh syndrome due to mitochondrial cox4 deficiency    leigh syndrome, due to cox deficiency    leigh syndrome with leukodystrophy    leigh syndrome due to mitochondrial complex i deficiency
    leigh disease

    2 diseases from the University of Copenhagen DISEASES database for NDUFV1:
    Leigh disease     Spastic diplegia

    Find genes that share disorders with NDUFV1           About GenesLikeMe

    Genatlas disease: NDUFV1
    myoclonic epilepsy,hypotonia,leukodystrophy,complex 1 deficiency

    Genetic Association Database (GAD): NDUFV1
    Human Genome Epidemiology (HuGE) Navigator: NDUFV1 (4 documents)

    Export disorders for NDUFV1 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 NDUFV1 gene, integrated from 10 sources (see all 41):
    (articles sorted by number of sources associating them with NDUFV1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Chromosomal localization of the human gene encoding the 51-kDa subunit of mitochondrial complex I (NDUFV1) to 11q13. (PubMed id 8288251)1, 2, 7, 9 Ali S.T.... Robinson B.H. (Genomics 1993)
    2. Cloning of the human mitochondrial 51 kDa subunit (NDUFV1) reveals a 100% antisense homology of its 3'UTR with the 5'UTR of the gamma- interferon inducible protein (IP-30) precursor: is this a link between mitochondrial myopathy and inflammation? (PubMed id 9571201)1, 2, 7 Schuelke M.... van den Heuvel L. (Biochem. Biophys. Res. Commun. 1998)
    3. The human mitochondrial NADH: ubiquinone oxidoreductase 51-kDa subunit maps adjacent to the glutathione S-transferase P1-1 gene on chromosome 11q13. (PubMed id 1478657)1, 2, 3 Spencer S.R....Ketterer B. (Genomics 1992)
    4. Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. (PubMed id 11349233)1, 2, 9 Benit P....Roetig A. (Am. J. Hum. Genet. 2001)
    5. 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)
    6. 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)
    7. 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)
    8. 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)
    9. 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)
    10. 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)

    (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: 4723 HGNC: 7716 AceView: NDUFV1 Ensembl:ENSG00000167792 euGenes: HUgn4723
    ECgene: NDUFV1 Kegg: 4723 H-InvDB: NDUFV1

    (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 NDUFV1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=NDUFV1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NDUFV1 gene:
    Search GeneIP for patents involving NDUFV1

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



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