Property Summary

NCBI Gene PubMed Count 1
Grant Count 19
R01 Count 13
Funding $2,876,662.7
PubMed Score 504.31
PubTator Score 232.88

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
sonic hedgehog group medulloblastoma -1.400 0.000
ovarian cancer -1.500 0.000

Gene RIF (45)

PMID Text
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.
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AA Sequence

MTMHTTMTTLTLTSLIPPILTTLVNPNKKNSYPHYVKSIVASTFIISLFPTTMFMCLDQEVIISNWHWAT      1 - 70
TQTTQLSLSFKLDYFSMMFIPVALFVTWSIMEFSLWYMNSDPNINQFFKYLLIFLITMLILVTANNLFQL     71 - 140
FIGWEGVGIMSFLLISWWYARADANTAAIQAILYNRIGDIGFILALAWFILHSNSWDPQQMALLNANPSL    141 - 210
TPLLGLLLAAAGKSAQLGLHPWLPSAMEGPTPVSALLHSSTMVVAGIFLLIRFHPLAENSPLIQTLTLCL    211 - 280
GAITTLFAAVCALTQNDIKKIVAFSTSSQLGLMMVTIGINQPHLAFLHICTHAFFKAMLFMCSGSIIHNL    281 - 350
NNEQDIRKMGGLLKTMPLTSTSLTIGSLALAGMPFLTGFYSKDHIIETANMSYTNAWALSITLIATSLTS    351 - 420
AYSTRMILLTLTGQPRFPTLTNINENNPTLLNPIKRLAAGSLFAGFLITNNISPASPFQTTIPLYLKLTA    421 - 490
LAVTFLGLLTALDLNYLTNKLKMKSPLCTFYFSNMLGFYPSITHRTIPYLGLLTSQNLPLLLLDLTWLEK    491 - 560
LLPKTISQHQISTSIITSTQKGMIKLYFLSFFFPLILTLLLIT                               561 - 603
//

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.
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