Property Summary

NCBI Gene PubMed Count 25
Grant Count 14
R01 Count 7
Funding $1,013,265.34
PubMed Score 302.53
PubTator Score 19.75

Knowledge Summary

Patent

No data available

Expression

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.
More...