Property Summary

NCBI Gene PubMed Count 1
Grant Count 115
R01 Count 80
Funding $26,214,036.41
PubMed Score 1026.08
PubTator Score 272.86

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma 1.102 0.000

Synonym

Accession P03905 Q6RL39 Q6RQN9 Q8HNR8
Symbols MTND4

Gene

PANTHER Protein Class (2)

Gene RIF (40)

PMID Text
26683077 The molecular study of a family with one member with Leber hereditary optic neuropathy found the mitochondrial mutation m.11778G>A in MT-ND4.
26218905 the ND4 gene is the hot spot for mutations associated with Leber's hereditary optic neuropathy
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.
22523243 Expression of WT human ND4 in cells with the G11778A mutation in ND4 led to restoration of defective ATP synthesis.
21850008 Our data emphasize the important role of MTND mutations in the pathogenicity of MELAS, especially MELAS/LS overlap syndrome.
21826063 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
21742061 altered activity of complex III modulates the phenotypic manifestation of Leber's hereditary optic neuropathy-associated ND4 G11778A mutation
21398275 The specific mtDNA background B5a1 was significantly associated with Southeast Asian G11778A LHON and appeared to modify the risk of visual loss.
20837795 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.
20809775 These results suggest that a different set of LHON-causing mutations is present in the South Indian population than in the European population
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AA Sequence

MLKLIVPTIMLLPLTWLSKKHMIWINTTTHSLIISIIPLLFFNQINNNLFSCSPTFSSDPLTTPLLMLTT      1 - 70
WLLPLTIMASQRHLSSEPLSRKKLYLSMLISLQISLIMTFTATELIMFYIFFETTLIPTLAIITRWGNQP     71 - 140
ERLNAGTYFLFYTLVGSLPLLIALIYTHNTLGSLNILLLTLTAQELSNSWANNLMWLAYTMAFMVKMPLY    141 - 210
GLHLWLPKAHVEAPIAGSMVLAAVLLKLGGYGMMRLTLILNPLTKHMAYPFLVLSLWGMIMTSSICLRQT    211 - 280
DLKSLIAYSSISHMALVVTAILIQTPWSFTGAVILMIAHGLTSSLLFCLANSNYERTHSRIMILSQGLQT    281 - 350
LLPLMAFWWLLASLANLALPPTINLLGELSVLVTTFSWSNITLLLTGLNMLVTALYSLYMFTTTQWGSLT    351 - 420
HHINNMKPSFTRENTLMFMHLSPILLLSLNPDIITGFSS                                   421 - 459
//

Text Mined References (21)

PMID Year Title
26683077 2016 [Leber hereditary optic neuropathy: Usefulness of next generation sequencing to study mitochondrial mutations on apparent homoplasmy].
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
21269460 2011 Initial characterization of the human central proteome.
20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
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.
12611891 2003 The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification.
12022039 2002 Mitochondrial genome diversity of Native Americans supports a single early entry of founder populations into America.
11130070 2000 Mitochondrial genome variation and the origin of modern humans.
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