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

NDUFV1 Gene

protein-coding   GIFtS: 66
GCID: GC11P067374

NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa

(Previous name: NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD) )
 Explore 20 diseases affiliated with
NDUFV1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for NDUFV1    

Aliases
for NDUFV1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
NADH Dehydrogenase (Ubiquinone) Flavoprotein 1, 51kDa1 2     Mitochondrial NADH Dehydrogenase Ubiquinone Flavoprotein 12
UQOR12 3 5     Mitochondrial NADH:Ubiquinone Oxidoreductase 51 Kda Subunit2
CI-51K1 2     NADH Dehydrogenase [Ubiquinone] Flavoprotein 1, Mitochondrial2
NADH-Ubiquinone Oxidoreductase 51 KDa Subunit2 3     CI-51kD3
NADH Dehydrogenase (Ubiquinone) Flavoprotein 1 (51kD)1     EC 1.6.5.33
CI51KD2     EC 1.6.99.33
Complex I 51 Kda Subunit2     Complex I-51kD3
Complex I 51kDa Subunit2     NADH Dehydrogenase Flavoprotein 13
Complex I, Mitochondrial Respiratory Chain2     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


Summaries
for NDUFV1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for NDUFV1:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_167190.1  
Regulatory elements:
   SABiosciences 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 plasmid: NDUFV1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NDUFV1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for NDUFV1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: 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
Subcellular location: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P49821

    • 4 DME Specific Peptides for NDUFV1 (P49821)
     YIYIRGE  CTPCREG  SGLRGRGGAGF  GAGAYICGEETA 

    NDUFV1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
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    Uscn Proteins for NDUFV1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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


    NDUFV1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for NDUFV1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NDUFV1 for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry P49821

    ProtoNet protein and cluster: P49821

    1 Blocks protein family: IPB001949 Respiratory-chain NADH dehydrogenase

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


    Function
    for NDUFV1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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 = NAD(+) + ubiquinol
    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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO: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--


    NDUFV1 for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for NDUFV1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    8/9 pathways (see all 9)
    		Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.1.00
    		Parkinson's disease0.61
    		Respiratory electron transport0.81
    		Oxidative phosphorylation0.52
    		Electron Transport Chain0.76
    		Alzheimer's disease0.43
    		The citric acid (TCA) cycle and respiratory electron transport0.72
    		Huntington's disease0.40
    2Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    3Metformin Pathway, Pharmacodynamic
    		Metformin Pathway, Pharmacodynamic1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 BioSystems Pathways for NDUFV1 
        Oxidative phosphorylation
    Electron Transport Chain

    4        Reactome Pathways for NDUFV1
        Respiratory electron transport
    Metabolism
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport

    1 PharmGKB Pathway for NDUFV1
        Metformin Pathway, Pharmacodynamic

    5         Kegg Pathways  (Kegg details for NDUFV1):
        Oxidative phosphorylation
    Metabolic pathways
    Alzheimer's disease
    Parkinson's disease
    Huntington's disease


    NDUFV1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NDUFV1

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

    5/284 Interacting proteins for NDUFV1 (P498212, 3 ENSP000003224504) via UniProtKB, MINT, STRING, and/or I2D (see all 284)
    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): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006120mitochondrial electron transport, NADH to ubiquinone NAS9878551
    GO:0022904respiratory electron transport chain TAS--
    GO:0044281small molecule metabolic process TAS--


    NDUFV1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for NDUFV1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for NDUFV1

    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

    Search CenterWatch for drugs/clinical trials and news about NDUFV1 / NDUV1 

    Transcripts
    for NDUFV1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for 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
    18/28 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 cDNA 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 

    24/39 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 

    24/1040 AceView cDNA sequences (see all 1040):

    BP350741 BE870153 AU105088 AW328134 AU105035 CK820542 BG397701 BG029537 
    BU845581 BM827816 AU105048 BM548819 AU105036 BE867070 AU105092 CR603047 
    CR603191 AI186944 BM744167 AA326287 CB054601 BC015645 BG035480 BG762371 

    GeneLoc Exon Structure

    5/20 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

    Expression
    for NDUFV1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NDUFV1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGGAATGCTG

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

    NDUFV1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    OvaryPrimary FolliclePrimary OocyteFemale Gametocytes, Germ Cells
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See NDUFV1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NDUFV1

    SOURCE GeneReport for Unigene cluster: Hs.7744
        SABiosciences Expression via Pathway-Focused PCR Array including NDUFV1: 
              Mitochondrial Energy Metabolism in human mouse rat

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for NDUFV1 gene

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

    Orthologs for NDUFV1 gene from 10/39 species (see all 39)    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 89.66(n)1
    95.91(a)1    		   19 (3.72 cM)5
    179951  NM_133666.21  NP_598427.11 
     40074975 
    chicken
    (Gallus gallus)    		 Aves NDUFV11 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa 81.25(n)
    89.93(a)    		   430210  NM_001031583.1  NP_001026754.1 
    lizard
    (Anolis carolinensis)    		 Reptilia NDUFV16
    		 --
    		 86(a)
    		 1 ↔ 1
    		 1(90639103-90645968)
    African clawed frog
    (Xenopus laevis)    		 Amphibia ndufv1-prov2 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa 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
    72.82(n)1
    82.42(a)1    		   338521  NM_135143.21  NP_608987.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea nuo-11 Protein NUO-1 67.32(n)
    78.99(a)    		   174696  NM_063975.2  NP_496376.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons CI511 NADH dehydrogenase (ubiquinone) flavoprotein 1 66.36(n)
    74.6(a)    		   830752  NM_120938.3  NP_196470.1 
    rice
    (Oryza sativa)    		 Liliopsida Os.73592 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 75.11(n)    AK065185.1 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria nuoF6
    		 NADH:ubiquinone oxidoreductase, chain F
    		 38(a)
    		 1 ↔ 1
    		 Chromosome(2398240-2399577) b2284


    ENSEMBL Gene Tree for NDUFV1 (if available)
    TreeFam Gene Tree for NDUFV1 (if available) 

    Paralogs
    for NDUFV1 gene

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

    Genomic Variants
    for NDUFV1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/182 NCBI SNPs in NDUFV1 are shown (see all 182)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs734905641,2
    		C,--63701886(+) ACATGG/ACAAGT 2 -- us2k12Minor allele frequency- A:0.04WA 120
    rs775008821,2
    		F,--63702059(+) CCACCC/TGCTGG 2 -- us2k11Minor allele frequency- T:0.04NA 120
    rs112278521,2
    		H--63703195(+) TGGCAG/AGGCTC 2 -- us2k14Minor allele frequency- A:0.00NS EA 420
    rs734905671,2
    		C,--63703351(+) CAGAAG/TGCGAC 2 -- us2k11Minor allele frequency- T:0.50WA 2
    rs783099471,2
    		C,F,--63703356(+) GGCGAC/TATGCG 2 -- us2k11Minor allele frequency- T:0.03EA 120
    rs734905681,2
    		C,--63703656(+) CTATCG/ACGCCA 2 -- ut513Minor allele frequency- A:0.17WA CSA 121
    rs112278531,2
    		C,F,H,--63703947(+) AAGTAG/AGGGAA 2 -- int15Minor allele frequency- A:0.07NS EA WA 536
    rs1121374401,2
    		C,--63704424(+) GCTTGT/AGGGGC 2 -- int13Minor allele frequency- A:0.18WA CSA 121
    rs757504891,2
    		C,--63704581(+) CCTATC/TAGAGT 2 -- int12Minor allele frequency- T:0.15CSA WA 120
    rs1113962231,2
    		C,--63704900(+) ATTACG/ACCACT 2 -- int11Minor allele frequency- A:0.50WA 2

    HapMap Linkage Disequilibrium report for NDUFV1 (67374323 - 67380012 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for NDUFV1
         2 CNVs: 53128 5275
    Human Gene Mutation Database (HGMD): NDUFV1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NDUFV1
    DNA2.0 Custom Variant and Variant Library Synthesis for NDUFV1

    Disorders / Diseases
    for NDUFV1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    NDUFV1 for disorders           About GeneDecksing

    OMIM gene information: 161015   
    OMIM disorders: 256000  203450  252010  
    UniProtKB/Swiss-Prot: NDUV1_HUMAN, P49821
  • Defects in NDUFV1 are a cause of Leigh syndrome (LS) [MIM:256000]. LS is a severe neurological disorder
    • characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions
  • Defects in NDUFV1 are a cause of mitochondrial complex I deficiency (MT-C1D) [MIM:252010]. A disorder of the
    • mitochondrial respiratory chain that causes a wide range of clinical disorders, 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

    20 diseases for NDUFV1:    About MalaCards
    mitochondrial complex i deficiency    parkinson's disease    leber hereditary optic neuropathy    myopathy
    spastic diplegia    lactic acidosis    encephalomyopathy    alexander disease
    dilated cardiomyopathy    complex v    leigh disease    spasticity
    leukodystrophy    huntington's disease    neuropathy    hypotonia
    cardiomyopathy    schizophrenia    tuberculosis    mycobacterium tuberculosis

    2 diseases from the University of Copenhagen DISEASES database for NDUFV1:
    Leigh disease     Spastic diplegia
    Genatlas disease: NDUFV1
    myoclonic epilepsy,hypotonia,leukodystrophy,complex 1 deficiency

    Human Genome Epidemiology (HuGE) Navigator: NDUFV1 (4 documents)

    Export disorders for NDUFV1 gene to outside databases

    Publications
    for NDUFV1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NDUFV1 gene, integrated from 9 sources (see all 37):
    (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. (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. (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. (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. (2001)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. (PubMed id 12611891)1, 2 Murray J.... Capaldi R.A. (2003)
    7. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)1, 2 Hu R.-M.... Chen J.-L. (2000)
    8. Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. (PubMed id 10080174)1, 2 Schuelke M.... van den Heuvel L. (1999)
    9. The structure of the human NDUFV1 gene encoding the 51-kDa subunit of mitochondrial complex I. (PubMed id 9892733)1, 2 de Coo R.F.M.... van Oost B.A. (1999)
    10. Mitochondrial complex I mutations in Caenorhabditis elegans produce cytochrome c oxidase deficiency, oxidative stress and vitamin-responsive lactic acidosis. (PubMed id 14662656)7, 9 Grad L.I. and Lemire B.D. (2004)

    External Searches for NDUFV1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
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    Genome Databases showing NDUFV1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4723 HGNC: 7716 AceView: NDUFV1 Ensembl:ENSG00000167792 euGenes: HUgn4723
    ECgene: NDUFV1 Kegg: 4723 H-InvDB: NDUFV1

    Other Databases showing NDUFV1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NDUFV1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NDUFV1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NDUFV1

    Intellectual Property
    for NDUFV1 gene

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