Property Summary

NCBI Gene PubMed Count 1
PubMed Score 504.31
PubTator Score 232.88

Knowledge Summary


No data available


  Differential Expression (2)

Disease log2 FC p
sonic hedgehog group medulloblastoma -1.400 7.3e-05
ovarian cancer -1.500 3.1e-05

Gene RIF (45)

25756807 Mitochondrially encoded NADH dehydrogenase subunit, complex I extracts energy from NADH, produced by the oxidation of sugars and fats, and traps the energy in a potential difference or voltage across the mitochondrial inner membrane.
25115399 Study demonstrates a link between p53 and Bcl-2 proteins as regulators of ROS production and cellular invasiveness, and reveals complex-I, especially ND5, as their functional target in lung tumor cells.
24440288 Three mutations were significantly related to the presence of epilepsy. These mutations were found at the 8502, 11994, and 13,231 bp of mtDNA, which resulted in amino acid changes at the MT-ATP-8, MT-ND4 and MT-ND5 genes.
22947169 Point mutations m.10191T>C in mitochondrial ND3 gene, m.13513G>A in ND5 gene and m.14,453G>A in ND6 gene were detected in three Chinese children with Leigh synrome dur to complex I deficiency.
22759514 Mitochondrial ND5 12338T>C variant is associated with maternally inherited hypertrophic cardiomyopathy in a Chinese pedigree
21830212 Mitochondrial DNA mutations in respiratory complex-I in never-smoker lung cancer patients contribute to lung cancer progression in association with EGFR gene mutation.
21482521 ND4 G11696A and ND5 T12338C mutation is likely associated with Leber's hereditary optic neuropathy in two Chinese families
21154318 Patients with ND5*13513 G to A mutation may have a characteristic clinical course and ND5 *13513 G to A might be a preferential candidate mutation of Leigh syndrome.
21131053 Several lines of evidence suggest that the mitochondrial ND5T12338C mutation is associated with Leber's hereditary optic neuropathy (LHON) in Chinese families.
20643099 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.
19758471 Observational study of gene-disease association. (HuGE Navigator)
19617458 article describes 2 mitochondrial DNA mutations in the ND3 and ND5 genes in patients showing clinical features of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
19054921 We suggest that mtDNA G13513A mutation is an important factor in patients with Leigh syndrome associated with WPW syndrome and/or optic atrophy.
19050702 Observational study of gene-disease association. (HuGE Navigator)
19026397 Observational study of gene-disease association. (HuGE Navigator)
18709563 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18546119 Observational study of gene-disease association. (HuGE Navigator)
18495510 13513G>A mutation in the ND5 is associated with Leigh or Leigh-like disease.
18396045 We describe a patient with isolated exercise intolerance caused by a new, maternally inherited mutation in heteroplasmic T>C transition at position 13271 in MTND5.
18332249 The G13513A mutation is a common cause of MELAS and LS, even in the absence of obvious maternal inheritance, pathological findings in muscle, or severe complex I deficiency.
18270557 identified the nt13708A variant as a susceptibility allele to multiple sclerosis
18270557 Observational study of gene-disease association. (HuGE Navigator)
17940288 Mitochondrial ND5 gene variation associated with encephalomyopathy and mitochondrial ATP consumption
17898419 ND5 gene is implicated in mitochondrial dysfunction in schizophrenia.
17898419 Observational study of gene-disease association. (HuGE Navigator)
17702497 In contrast to results reported for PD frontal cortex, low-level ND5 mutations between codons 120 and 150 do not accumulate severely in biochemically affected skeletal muscle samples of Parkinson's patients.
17614984 MT-ND5 gene variation is significantly associated with brain mitochondrial respiratory function in Tibet chicken embryos under hypoxia.
17400793 Observational study of genotype prevalence. (HuGE Navigator)
17400793 Complete screening of the mitochondrial genome of 116 patients detected 4 families with an ND5 mutation (including a new m.13511AT mutation), accounting for 27% of the total number of mtDNA gene mutations.
17341490 Functional effects of nonsense mitochondrial DNA (mtDNA) mutations in the COXI and ND5 genes in a colorectal tumor cell line.
17317336 Secondary structure analysis of the ND5 protein further supported the deleterious role of the 12706C mutation
17106447 Observational study of genotype prevalence. (HuGE Navigator)
16331560 Observational study of gene-disease association. (HuGE Navigator)
16240359 we describe the clinical and genetic characterization of a new LHON mtDNA mutation. The 12848T mutation alters a highly conserved amino acid in the ND5 complex I gene.
15975594 Observational study of gene-disease association. (HuGE Navigator)
15946665 In cholera, ND5 is upregulated in the mucosa of the small intestine, which correlates with the virulence of Vibrio cholerae.
15931342 Observational study of genetic testing. (HuGE Navigator)
15596151 Heteroplasmic mutations largely segregate PD from controls and may be of major pathogenic importance in idiopathic Parkinson disease.
14759509 The expression of MTND5 was studied in blood platelets during aging. There was increased genetic transcription.
14730434 Observational study of genotype prevalence. (HuGE Navigator)
14639589 Observational study of gene-disease association. (HuGE Navigator)
14557590 A 13513G->A transition in ND5 was identified in a 4-year-old Italian boy atypical Leigh syndrome patient
14520659 This study conclude that the G13513A mutation causes a complex I defect when present at unusually low mutant load and may act dominantly.
12772452 Observational study of gene-disease association. (HuGE Navigator)
12031626 One proband had a non-synonymous A14062G mutation in the ND5 gene.

AA Sequence


Text Mined References (25)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25756807 2015 Mitochondrial genetic variants identified to be associated with posttraumatic stress disorder.
20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
17400793 2007 Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.
16240359 2005 The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation.
15767514 2005 Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.
14760490 2004 Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians.
12949126 2003 Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J.
12840039 2003 Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines.
12796552 2003 A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.
12611891 2003 The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification.
12509858 2003 Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?
11938446 2002 Leigh disease associated with a novel mitochondrial DNA ND5 mutation.
11553319 2001 Major genomic mitochondrial lineages delineate early human expansions.
11130070 2000 Mitochondrial genome variation and the origin of modern humans.
9461455 1998 Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome.
9299505 1997 Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.
8213825 1993 When does bilateral optic atrophy become Leber hereditary optic neuropathy?
7530363 1995 Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs.
7219534 1981 Sequence and organization of the human mitochondrial genome.
6284948 1982 Mitochondrial DNA sequences of primates: tempo and mode of evolution.
3921850 1985 Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase.
1900003 1991 Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.
1757091 1991 Normal variants of human mitochondrial DNA and translation products: the building of a reference data base.
1732158 1992 Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.