NNT Gene Summary [Human]
This gene encodes an integral protein of the inner mitochondrial membrane. The enzyme couples hydride transfer between NAD(H) and NADP(+) to proton translocation across the inner mitochondrial membrane. Under most physiological conditions, the enzyme uses energy from the mitochondrial proton gradient to produce high concentrations of NADPH. The resulting NADPH is used for biosynthesis and in free radical detoxification. [provided by RefSeq, Sep 2016]
Details
| Type | Protein Coding |
| Official Symbol | NNT |
| Official Name | nicotinamide nucleotide transhydrogenase [Source:HGNC Symbol;Acc:HGNC:7863] |
| Ensembl ID | ENSG00000112992 |
| Bio databases IDs | |
| Aliases | nicotinamide nucleotide transhydrogenase |
| Synonyms | 4930423F13RIK, BB168308, GCCD4, Nadp Transhydrogenase, nicotinamide nucleotide transhydrogenase, NNTM |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NNT often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rossmann-fold NAD(P)(+)-binding proteins
- NAD or NADH binding
- 4TM region of pyridine nucleotide transhydrogenase, mitoch
- NADP binding
- Alanine dehydrogenase/PNT, N-terminal domain
- enzyme
- NAD(P) transhydrogenase (AB-specific)
- NAD(P) transhydrogenase beta subunit
- Alanine dehydrogenase/PNT, C-terminal domain
- NAD(P) transhydrogenase, alpha subunit
- NAD(P) transhydrogenase (B-specific)
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- Alzheimer disease
- glucocorticoid deficiency 4
- hereditary disorder
- glucocorticoid deficiency 4 with mineralocorticoid deficiency
- non-melanoma skin cancer
- silicosis
role in cell
- apoptosis
- consumption in
- oxidation in
- mitochondrial respiration in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- pH resistant lipid raft fraction
- detergent resistant lipid raft fraction
- Mitochondria
- myofilaments
- mitochondrial inner membrane
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NNT gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- reactive oxygen species metabolic process
- positive regulation of mitochondrial membrane potential
- negative regulation of protein phosphorylation
- negative regulation of apoptotic process
- response to vitamin
- NADPH regeneration
- cell redox homeostasis
- oxygen homeostasis
- tricarboxylic acid cycle
Cellular Component
Where in the cell the gene product is active
- mitochondrial respiratory chain
- mitochondrion
- membrane
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- NADP binding
- NAD binding
- NAD(P)+ transhydrogenase (B-specific) activity