Property Summary

NCBI Gene PubMed Count 25
PubMed Score 302.53
PubTator Score 19.75

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
malignant mesothelioma -6.200 8.7e-10
hereditary spastic paraplegia -1.778 1.9e-03
adrenocortical carcinoma 1.302 8.4e-03
pancreatic ductal adenocarcinoma liver m... -2.530 1.4e-03
non-small cell lung cancer 1.128 1.1e-09
intraductal papillary-mucinous neoplasm ... 1.100 2.5e-02
lung adenocarcinoma 1.471 2.0e-06
Alzheimer's disease -1.200 4.3e-02
Pick disease -1.600 1.1e-04
gastric carcinoma -1.200 3.9e-02
invasive ductal carcinoma -1.100 1.1e-02
ovarian cancer 1.100 2.2e-03
dermatomyositis -1.400 2.0e-02

Gene RIF (7)

PMID Text
26070314 This report of a novel NNT mutation, p.G200S, expands the phenotype of NNT mutations to include mineralocorticoid deficiency. It provides the first evidence that NNT mutations can cause oxidative stress and mitochondrial defects.
26025024 Data suggest mutations in nicotinamide nucleotide transhydrogenase (NNT) as contributory to left ventricular noncompaction (LVNC).
23592659 NNT mRNA expression is significantly higher in visceral fat of obese patients and correlates with body weight, BMI, % body fat, visceral and sc fat area, waist and hip circumference, and fasting plasma insulin.
22634753 Results suggest that NNT may have a role in ROS detoxification in human adrenal glands.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20388492 In the failing heart a partial loss of Nnt activity adversely impacts NADPH-dependent enzymes and the capacity to maintain membrane potential, thus contributing to a decline in bioenergetic capacity, redox regulation and antioxidant defense.
12223207 the expression of the transhydrogenase gene in subsections of the human brain showed a distribution that apparently varied as a function of neuronal density

AA Sequence

MANLLKTVVTGCSCPLLSNLGSCKGLRVKKDFLRTFYTHQELWCKAPVKPGIPYKQLTVGVPKEIFQNEK      1 - 70
RVALSPAGVQNLVKQGFNVVVESGAGEASKFSDDHYRVAGAQIQGAKEVLASDLVVKVRAPMVNPTLGVH     71 - 140
EADLLKTSGTLISFIYPAQNPELLNKLSQRKTTVLAMDQVPRVTIAQGYDALSSMANIAGYKAVVLAANH    141 - 210
FGRFFTGQITAAGKVPPAKILIVGGGVAGLASAGAAKSMGAIVRGFDTRAAALEQFKSLGAEPLEVDLKE    211 - 280
SGEGQGGYAKEMSKEFIEAEMKLFAQQCKEVDILISTALIPGKKAPVLFNKEMIESMKEGSVVVDLAAEA    281 - 350
GGNFETTKPGELYIHKGITHIGYTDLPSRMATQASTLYSNNITKLLKAISPDKDNFYFDVKDDFDFGTMG    351 - 420
HVIRGTVVMKDGKVIFPAPTPKNIPQGAPVKQKTVAELEAEKAATITPFRKTMSTASAYTAGLTGILGLG    421 - 490
IAAPNLAFSQMVTTFGLAGIVGYHTVWGVTPALHSPLMSVTNAISGLTAVGGLALMGGHLYPSTTSQGLA    491 - 560
ALAAFISSVNIAGGFLVTQRMLDMFKRPTDPPEYNYLYLLPAGTFVGGYLAALYSGYNIEQIMYLGSGLC    561 - 630
CVGALAGLSTQGTARLGNALGMIGVAGGLAATLGVLKPGPELLAQMSGAMALGGTIGLTIAKRIQISDLP    631 - 700
QLVAAFHSLVGLAAVLTCIAEYIIEYPHFATDAAANLTKIVAYLGTYIGGVTFSGSLIAYGKLQGLLKSA    701 - 770
PLLLPGRHLLNAGLLAASVGGIIPFMVDPSFTTGITCLGSVSALSAVMGVTLTAAIGGADMPVVITVLNS    771 - 840
YSGWALCAEGFLLNNNLLTIVGALIGSSGAILSYIMCVAMNRSLANVILGGYGTTSTAGGKPMEISGTHT    841 - 910
EINLDNAIDMIREANSIIITPGYGLCAAKAQYPIADLVKMLTEQGKKVRFGIHPVAGRMPGQLNVLLAEA    911 - 980
GVPYDIVLEMDEINHDFPDTDLVLVIGANDTVNSAAQEDPNSIIAGMPVLEVWKSKQVIVMKRSLGVGYA    981 - 1050
AVDNPIFYKPNTAMLLGDAKKTCDALQAKVRESYQK                                     1051 - 1086
//

Text Mined References (30)

PMID Year Title
26070314 2015 Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress.
26025024 2015 Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23592659 2013 Nicotinamide nucleotide transhydrogenase mRNA expression is related to human obesity.
22634753 2012 Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20388492 Diminished NADPH transhydrogenase activity and mitochondrial redox regulation in human failing myocardium.
19946888 2010 Defining the membrane proteome of NK cells.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
16381901 2006 The LIFEdb database in 2006.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12788487 2003 Proton translocation by transhydrogenase.
12592411 2003 Characterization of the human heart mitochondrial proteome.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12223207 2002 Expression of proton-pumping nicotinamide nucleotide transhydrogenase in mouse, human brain and C elegans.
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
11230166 2001 Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
11181995 2001 The sequence of the human genome.
11076863 2000 DNA cloning using in vitro site-specific recombination.
10739929 2000 The NADP(H)-binding component (dIII) of human heart transhydrogenase: crystallization and preliminary crystallographic analysis.
10673423 2000 The high-resolution structure of the NADP(H)-binding component (dIII) of proton-translocating transhydrogenase from human heart mitochondria.
9524818 1997 Cloning and deduced amino acid sequence of human nicotinamide nucleotide transhydrogenase.
9271681 1997 Mapping of the rat and mouse nicotinamide nucleotide transhydrogenase gene.
8951041 1996 Oxidative modification of nicotinamide nucleotide transhydrogenase in submitochondrial particles: effect of endogenous ubiquinol.
8616157 1996 The cDNA sequence of proton-pumping nicotinamide nucleotide transhydrogenase from man and mouse.