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ND5 NADH dehydrogenase subunit 5 [ Homo sapiens neanderthalensis (Neandertal) ]

Gene ID: 6775066, updated on 18-Aug-2023

Summary

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Gene symbol
ND5
Gene description
NADH dehydrogenase subunit 5
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens neanderthalensis (common: Neandertal, sub-species: neanderthalensis)
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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Genomic context

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Sequence:
Chromosome: MT; NC_011137.1 (12332..14143)

Chromosome MT - NC_011137.1Genomic Context describing neighboring genes Neighboring gene tRNA-Ser Neighboring gene tRNA-Leu Neighboring gene NADH dehydrogenase subunit 6 Neighboring gene tRNA-Glu

Genomic regions, transcripts, and products

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Genomic Sequence:
NC_011137.1

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Adult onset tubulo-interstitial nephropathy in MT-ND5-related phenotypes. Bakis H, et al. Clin Genet, 2020 Apr. PMID 31713837
  2. Leber's hereditary optic neuropathy (LHON)-associated ND5 12338T > C mutation altered the assembly and function of complex I, apoptosis and mitophagy. Zhang J, et al. Hum Mol Genet, 2018 Jun 1. PMID 29579248
  3. Mitochondrial ND5 mutation mediated elevated ROS regulates apoptotic pathway epigenetically in a P53 dependent manner for generating pro-cancerous phenotypes. Singh RK, et al. Mitochondrion, 2017 Jul. PMID 28502718
  4. Reduced mitochondrial Ca(2+) transients stimulate autophagy in human fibroblasts carrying the 13514A>G mutation of the ND5 subunit of NADH dehydrogenase. Granatiero V, et al. Cell Death Differ, 2016 Feb. PMID 26206091, Free PMC Article
  5. Mitochondrial genome analysis of primary open angle glaucoma patients. Banerjee D, et al. PLoS One, 2013. PMID 23940637, Free PMC Article

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Adult onset tubulo-interstitial nephropathy in MT-ND5-related phenotypes.
    Title: Adult onset tubulo-interstitial nephropathy in MT-ND5-related phenotypes.
  2. In this study, we demonstrated that a missense mutation (m.12338T>C, p.1M>T) in the ND5 gene contributed to the pathogenesis of Leber's hereditary optic neuropathy (LHON) . The m.12338T>C mutation affected the first methionine (Met1) with a threonine and shortened two amino acids of ND5
    Title: Leber's hereditary optic neuropathy (LHON)-associated ND5 12338T > C mutation altered the assembly and function of complex I, apoptosis and mitophagy.
  3. The authors propose that somatic mutation ND5:P265H resulted in down-regulated complex I enzyme activity, elevated ROS and up-regulation of a set of nuclear anti-apoptotic genes epigenetically in a P53 dysfunctional cellular background generating pro-cancerous phenotypes.
    Title: Mitochondrial ND5 mutation mediated elevated ROS regulates apoptotic pathway epigenetically in a P53 dependent manner for generating pro-cancerous phenotypes.
  4. Calcium signaling in a cellular model consisting of fibroblasts from patients carrying mutations in the mitochondrial ND5 gene.
    Title: Reduced mitochondrial Ca(2+) transients stimulate autophagy in human fibroblasts carrying the 13514A>G mutation of the ND5 subunit of NADH dehydrogenase.
  5. Mutations in ND5 is associated with peripheral neuropathy of diabetes.
    Title: Novel mutations in ATPase 8, ND1 and ND5 genes associated with peripheral neuropathy of diabetes.
  6. Mutations in ND5, expected to inhibit complex I activity, could lead to generation of oxidative stress and favor glaucomatous condition.
    Title: Mitochondrial genome analysis of primary open angle glaucoma patients.
  7. Observational study of gene-disease association and genetic testing. (HuGE Navigator)
    Title: Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss.
  8. Observational study of genetic testing. (HuGE Navigator)
    Title: Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations.
  9. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
    Title: Involvement of mitochondrial DNA sequence variations and respiratory activity in late complications following radiotherapy.
  10. ND5 mutations play important roles in the early stage of cancer development via reactive oxygen species generation and apoptosis.
    Title: A heteroplasmic, not homoplasmic, mitochondrial DNA mutation promotes tumorigenesis via alteration in reactive oxygen species generation and apoptosis.
Submit: New GeneRIF Correction See all GeneRIFs (11)

General protein information

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Preferred Names
NADH dehydrogenase subunit 5

NCBI Reference Sequences (RefSeq)

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Genome Annotation

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

Reference assembly

Genomic

  1. NC_011137.1 Reference assembly

    Range
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. YP_002124312.1 NADH dehydrogenase subunit 5 (mitochondrion) [Homo sapiens neanderthalensis]

    See identical proteins and their annotated locations for YP_002124312.1

    Status: REVIEWED

    UniProtKB/TrEMBL
    A0A1B0WUV9, A0A343RM17, A0A7G5XR62, B4F445, C7BWV8
    Conserved Domains (1) summary
    MTH00108
    Location:16 → 602
    ND5; NADH dehydrogenase subunit 5; Provisional
Nucleotide Protein
Heading Accession and Version

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