NNT (nicotinamide nucleotide transhydrogenase)

2014-08-01  

Identity

HGNC
NNT
LOCATION
5p12
LOCUSID
23530
ALIAS
GCCD4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23530
MIM: 607878
HGNC: 7863
Ensembl: ENSG00000112992

Variants:

dbSNP: 23530
ClinVar: 23530
TCGA: ENSG00000112992
COSMIC: NNT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112992ENST00000264663Q13423
ENSG00000112992ENST00000264663A0A024R0C3
ENSG00000112992ENST00000344920Q13423
ENSG00000112992ENST00000344920A0A024R0C3
ENSG00000112992ENST00000503059H0Y9R2
ENSG00000112992ENST00000505678D6RHU2
ENSG00000112992ENST00000512422D6RAI5
ENSG00000112992ENST00000512996E9PCX7
ENSG00000112992ENST00000515208D6RCR6
ENSG00000112992ENST00000652986A0A590UKC7
ENSG00000112992ENST00000653251Q13423
ENSG00000112992ENST00000653251A0A024R0C3
ENSG00000112992ENST00000654405A0A590UK15
ENSG00000112992ENST00000654931A0A590UJM7
ENSG00000112992ENST00000656666Q13423
ENSG00000112992ENST00000656666A0A024R0C3
ENSG00000112992ENST00000657172A0A590UJI3
ENSG00000112992ENST00000657973A0A590UJV8
ENSG00000112992ENST00000658729A0A590UJA4
ENSG00000112992ENST00000660676A0A590UJM2
ENSG00000112992ENST00000660752A0A590UK29
ENSG00000112992ENST00000662525Q13423
ENSG00000112992ENST00000662525A0A024R0C3
ENSG00000112992ENST00000669601Q13423
ENSG00000112992ENST00000669601A0A024R0C3
ENSG00000112992ENST00000670904Q13423
ENSG00000112992ENST00000670904A0A024R0C3
ENSG00000112992ENST00000671668Q13423
ENSG00000112992ENST00000671668A0A024R0C3

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Nicotinate and nicotinamide metabolismKEGGko00760
Nicotinate and nicotinamide metabolismKEGGhsa00760
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Pyruvate metabolism and Citric Acid (TCA) cycleREACTOMER-HSA-71406
Citric acid cycle (TCA cycle)REACTOMER-HSA-71403

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
226347532012Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency.59
203884922010Diminished NADPH transhydrogenase activity and mitochondrial redox regulation in human failing myocardium.33
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
284783812017Nicotinamide nucleotide transhydrogenase (NNT) deficiency dysregulates mitochondrial retrograde signaling and impedes proliferation.13
260250242015Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction.11
122232072002Expression of proton-pumping nicotinamide nucleotide transhydrogenase in mouse, human brain and C elegans.8
271293612016NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects.8
300599012018Nicotinamide nucleotide transhydrogenase-mediated redox homeostasis promotes tumor growth and metastasis in gastric cancer.8
235926592013Nicotinamide nucleotide transhydrogenase mRNA expression is related to human obesity.7
260703142015Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress.5

Citation

Dessen P

NNT (nicotinamide nucleotide transhydrogenase)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54504/nnt-(nicotinamide-nucleotide-transhydrogenase)