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    ND4 NADH dehydrogenase, subunit 4 (complex I) [ Homo sapiens ]

    Gene ID: 4538, updated on 12-May-2012
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    Summary

    Gene symbol
    ND4
    Gene description
    NADH dehydrogenase, subunit 4 (complex I)
    Primary source
    HGNC:7459
    See related
    MIM:516003
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MTND4
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    Genomic context

    Location :
    isolation source: caucasian, tissue type: placenta, country: United Kingdom: Great Britain
    Sequence :
    Chromosome: MT; NC_012920.1 (10760..12137)
    See ND4 in Epigenomics, MapViewer

    Chromosome MT - NC_012920.1Genomic Context describing neighboring genes Neighboring gene NADH dehydrogenase, subunit 3 (complex I) Neighboring gene tRNA Neighboring gene NADH dehydrogenase, subunit 4L (complex I) Neighboring gene tRNA Neighboring gene tRNA

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Mutations in mitochondrially encoded complex I enzyme as the second common cause in a cohort of Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. Zhao D, et al. J Hum Genet, 2011 Nov. PMID 21850008.
    2. Prognostic implications and molecular associations of NADH dehydrogenase subunit 4 (ND4) mutations in acute myeloid leukemia. Damm F, et al. Leukemia, 2012 Feb. PMID 21826063.
    3. The altered activity of complex III may contribute to the high penetrance of Leber's hereditary optic neuropathy in a Chinese family carrying the ND4 G11778A mutation. Qian Y, et al. Mitochondrion, 2011 Nov. PMID 21742061.
    4. Mitochondrial haplogroup background may influence Southeast Asian G11778A Leber hereditary optic neuropathy. Kaewsutthi S, et al. Invest Ophthalmol Vis Sci, 2011 Jun. PMID 21398275.
    5. A human MAP kinase interactome. Bandyopadhyay S, et al. Nat Methods, 2010 Oct. PMID 20936779.

    See all (38) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. altered activity of complex III modulates the phenotypic manifestation of Leber's hereditary optic neuropathy-associated ND4 G11778A mutation
      Title: The altered activity of complex III may contribute to the high penetrance of Leber's hereditary optic neuropathy in a Chinese family carrying the ND4 G11778A mutation.
    2. Patients with somatically acquired ND4 mutations had significantly longer relapse-free survival (P=0.017) and overall survival (OS) (P=0.021) than ND4(wildtype) patients
      Title: Prognostic implications and molecular associations of NADH dehydrogenase subunit 4 (ND4) mutations in acute myeloid leukemia.
    3. Our data emphasize the important role of MTND mutations in the pathogenicity of MELAS, especially MELAS/LS overlap syndrome.
      Title: Mutations in mitochondrially encoded complex I enzyme as the second common cause in a cohort of Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes.
    4. The specific mtDNA background B5a1 was significantly associated with Southeast Asian G11778A LHON and appeared to modify the risk of visual loss.
      Title: Mitochondrial haplogroup background may influence Southeast Asian G11778A Leber hereditary optic neuropathy.
    5. mitochondrial haplogroup M9a specific variant T3394C may modulate the phenotypic manifestation of LHON-associated G11778A mutation in Chinese pedigrees.
      Title: Mitochondrial haplogroup M9a specific variant ND1 T3394C may have a modifying role in the phenotypic expression of the LHON-associated ND4 G11778A mutation.
    6. These results suggest that a different set of LHON-causing mutations is present in the South Indian population than in the European population
      Title: Reduced frequency of known mutations in a cohort of LHON patients from India.
    7. Molecular analysis of mitochondrial genome identified the known ND4 G11778A mutation and 51 variants, belonging to Asian haplogroup C4a1.
      Title: Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation.
    8. Twenty-five subjects with Leber hereditary optic neuropathy (LHON) and 21 carriers positive for the G11778A mitochondrial DNA mutation were recruited. Three additional mutations in the ND4 gene, G11719A, G11947A, or G11914A, were detected.
      Title: Leber hereditary optic neuropathy gene therapy clinical trial recruitment: year 1.
    9. Treatment of acute visual loss due to LHON may be possible with a normal human ND4 subunit gene of complex I, mutated in most cases of LHON, when delivered by an scAAV vector.
      Title: Induction of rapid and highly efficient expression of the human ND4 complex I subunit in the mouse visual system by self-complementary adeno-associated virus.
    10. G10680A mutation of ND4 may play a synergistic role with the primary mutation T14484C of ND6, leading to the complete penetrance of Leber's hereditary optic neuropathy in the presenting family.
      Title: The novel G10680A mutation is associated with complete penetrance of the LHON/T14484C family.
    Submit: New GeneRIF Correction See all (24)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P03905 O95870 ABHD16A    HPRD  PubMed  
    BioGRID:110634 BioGRID:106821 APC    BioGRID  PubMed Two-hybrid 
    BioGRID:110634 BioGRID:109142 GRB2    BioGRID  PubMed Two-hybrid 
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    General gene information

    Markers

    Genotypes

    Homology

    • Homologs of the ND4 gene: The ND4 gene is conserved in chimpanzee, , dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and C.elegans.

    Pathways from BioSystems

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    General protein information

    Preferred Names
    NADH dehydrogenase, subunit 4 (complex I)
    Names
    NADH dehydrogenase subunit 4
    YP_003024035.1
    • TAA stop codon is completed by the addition of 3' A residues to the mRNA
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    NCBI Reference Sequences (RefSeq)

    Genome Annotation

    The following sections contain reference sequences that belong to a specific genome build. Explain

    mRNA and Protein(s)

    1. YP_003024035.1 NADH dehydrogenase subunit 4 [Homo sapiens]

      UniProtKB/Swiss-Prot
      P03905
      UniProtKB/TrEMBL
      Q85L09
      Conserved Domains (2) summary
      MTH00110
      Location:1 – 457
      Blast Score: 1673
      ND4; NADH dehydrogenase subunit 4; Provisional
      cl14187
      Location:112 – 382
      Blast Score: 461
      Oxidored_q1; NADH-Ubiquinone/plastoquinone (complex I), various chains
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic J01415.2 AAB58952.1
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    Additional Links

    Gene LinkOut

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