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FLASH GENE

Symbol

NNT

contributors: npt/mct - updated : 25-03-2015

HGNC name	nicotinamide nucleotide transhydrogenase
HGNC id	7863

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	102.88 kb     22 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	two transcripts encode the same protein

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_012343 22 - 4689 NP_036475 - 1086 - 1997 9524818 NM_182977 22 - 4655 NP_892022 - 1086 - 1997 9524818

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       moderately Homo sapiens Endocrine adrenal gland       highly Homo sapiens   thyroid       moderately Homo sapiens Lymphoid/Immune lymph node       highly Urinary kidney       moderately Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly Connective adipose       Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

ortholog to bovin,murine enzymes

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,membrane
text	integral protein of the inner mitochondrial membrane

basic FUNCTION	catalyzing the reduction of NADP(+) by NADH to NADPH and NAD(+)
	nuclear-encoded mitochondrial protein involved in detoxification of ROS (reactive oxygen species)
	play a role in mitochondrial oxidative phosphorylation (Scotto 2008)
	inner mitochondrial membrane transmembrane protein involved in regenerating NADPH, coupled with proton translocation across the inner membrane
	novel role for NNT as a regulator of macrophage-mediated inflammatory responses.
	may have a role in ROS detoxification in human adrenal glands
	mitochondrial enzyme that transfers reducing equivalents from NADH to NADPH
	role of NNT in regulating central carbon metabolism via redox balance, calling for other mechanisms that coordinate substrate preference to maintain a functional tricarboxylic acid (TCA) cycle
	NNT functions is a high-capacity source of mitochondrial NADPH and its functional loss due to the NNT mutation results in mitochondrial redox abnormalities, most notably a poor ability to sustain NADP and glutathione in their reduced states
	is the critical link between the metabolic and H2O2 antioxidant function in brain mitochondria

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

energetic

signaling

a component

protein constituent of the inner mitochondrial membrane

INTERACTION

DNA

RNA

small molecule

protein

HERPUD1 regulates insulin secretion via control of NNTt expression

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

FGCD4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       uncouple beta cell mitochondrial metabolism leading to less ATP production, enhanced KATP channel activity, and consequently impaired insulin secretion

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neurology neurodegenerative   potential therapeutic target to improve the redox balance in conditions of oxidative stress associated with neurodegenerative diseases

ANIMAL & CELL MODELS

defect in Nnt function in the mouse, and specifically within the beta-cell, leads to a reduction in insulin secretion