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    ND1 NADH dehydrogenase, subunit 1 (complex I) [ Homo sapiens ]

    Gene ID: 4535, updated on 19-May-2012
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    Summary

    Gene symbol
    ND1
    Gene description
    NADH dehydrogenase, subunit 1 (complex I)
    Primary source
    HGNC:7455
    See related
    MIM:516000
    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
    MTND1
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    Genomic context

    Location :
    tissue type: placenta, isolation source: caucasian, country: United Kingdom: Great Britain
    Sequence :
    Chromosome: MT; NC_012920.1 (3307..4262)
    See ND1 in Epigenomics, MapViewer

    Chromosome MT - NC_012920.1Genomic Context describing neighboring genes Neighboring gene l-rRNA Neighboring gene tRNA Neighboring gene tRNA 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. LHON/MELAS overlap mutation in ND1 subunit of mitochondrial complex I affects ubiquinone binding as revealed by modeling in Escherichia coli NDH-1. Pätsi J, et al. Biochim Biophys Acta, 2012 Feb. PMID 22079202.
    2. A mutation threshold distinguishes the antitumorigenic effects of the mitochondrial gene MTND1, an oncojanus function. Gasparre G, et al. Cancer Res, 2011 Oct 1. PMID 21852384.
    3. Transition m.3308T>C in the ND1 gene is associated with left ventricular hypertrabeculation/noncompaction. Zarrouk Mahjoub S, et al. Cardiology, 2011. PMID 21625124.
    4. Mutations in mitochondrial NADH dehydrogenase subunit 1 (mtND1) gene in colorectal carcinoma. Yusnita Y, et al. Malays J Pathol, 2010 Dec. PMID 21329181.
    5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.

    See all (73) 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. In all, m.3376G>A perturbs ubiquinone binding, a phenomenon found in LHON, and decreases the activity of fully assembled complex I as in MELAS.
      Title: LHON/MELAS overlap mutation in ND1 subunit of mitochondrial complex I affects ubiquinone binding as revealed by modeling in Escherichia coli NDH-1.
    2. the antitumorigenic and antimetastatic effects of high loads of MTND1 m.3571insC, following tumors complex I disassembly, define a novel threshold-regulated class of cancer genes
      Title: A mutation threshold distinguishes the antitumorigenic effects of the mitochondrial gene MTND1, an oncojanus function.
    3. It is concluded that left ventricular hypertrabeculation/noncompaction may be associated with the known homoplasmic m.3308T>C mutation in the ND1 gene.
      Title: Transition m.3308T>C in the ND1 gene is associated with left ventricular hypertrabeculation/noncompaction.
    4. Three mutations in the Mitochondrial Subunit ND1 gene from primary colorectal tumour tissues were likely to alter the structure and function of the ND1 protein
      Title: Mutations in mitochondrial NADH dehydrogenase subunit 1 (mtND1) gene in colorectal carcinoma.
    5. these results suggest that the MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with suspected LHON lacking the common primary mutations.
      Title: The MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with clinical features of LHON but lacking the three primary mutations.
    6. Substitutions of a highly conserved Met31 in ND1 caused by rare mitochondrial single nucleotide polymorphisms (mtSNP) A3397G and T3398C were identified from two left ventricular noncompaction patients.
      Title: Left ventricular noncompaction is associated with mutations in the mitochondrial genome.
    7. NADH dehydrogenase domain activity of NDH-1 with either one or both mutations was markedly decreased suggesting that m.4216T>C and m.3866T>C may have an effect on the structural integrity of complex I.
      Title: Analysis of functional consequences of haplogroup J polymorphisms m.4216T>C and m.3866T>C in human MT-ND1: mutagenesis of homologous positions in Escherichia coli.
    8. The 3316 G-->A mutation in mitochondrial ND1 gene might be related to the down-regulated expression of mitochondrial protein and the diabetes mellitus pathogenesis.
      Title: [Study on mitochondrial function of ND1 gene with 3316 G-->A mutation in human diabetes].
    9. T3866C mutation in ND1 is associated with Leber's hereditary optic neuropathy and limbs abnormity claudication.
      Title: [Leber's hereditary optic neuropathy and limbs abnormity claudication may be associated with the mitochondrial ND1 T3866C mutation].
    10. After adjustment for full-thickness burn size, inhalation injury, age, and sex, carriage of the ND1 4216C allele was associated with complicated sepsis, relative to carriers of the T allele.
      Title: Association of mitochondrial allele 4216C with increased risk for sepsis-related organ dysfunction and shock after burn injury.
    Submit: New GeneRIF Correction See all (40)
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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
    P03886 Q86SQ9 DHDDS    HPRD  PubMed  
    P03886 P03886 ND1    HPRD  PubMed  
    P03886 O75251 NDUFS7    HPRD  PubMed  
    P03886 Q16762 TST    HPRD  PubMed  
    BioGRID:110631 BioGRID:123018 DHDDS    BioGRID  PubMed Two-hybrid 
    BioGRID:110631 BioGRID:113114 TST    BioGRID  PubMed Biochemical Activity 
    BioGRID:110631 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    • Homologs of the ND1 gene: The ND1 gene is conserved in chimpanzee, , dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, and A.thaliana.

    Pathways from BioSystems

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    General protein information

    Preferred Names
    NADH dehydrogenase, subunit 1 (complex I)
    Names
    NADH dehydrogenase subunit 1
    YP_003024026.1
    • 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_003024026.1 NADH dehydrogenase subunit 1 [Homo sapiens]

      UniProtKB/Swiss-Prot
      P03886
      UniProtKB/TrEMBL
      Q85KV6
      Conserved Domains (1) summary
      cl00469
      Location:1 – 318
      Blast Score: 1231
      NADHdh; NADH dehydrogenase
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic J01415.2 AAB58943.1
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    Additional Links

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