InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NNT

Summary

InnateDB Protein

IDBP-19696.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NNT

Protein Name

nicotinamide nucleotide transhydrogenase

Synonyms

GCCD4;

Species

Homo sapiens

Ensembl Protein

ENSP00000264663

InnateDB Gene

IDBG-19690 (NNT)

Protein Structure

UniProt Annotation

Function

The transhydrogenation between NADH and NADP is coupled to respiration and ATP hydrolysis and functions as a proton pump across the membrane. May play a role in reactive oxygen species (ROS) detoxification in the adrenal gland. {ECO:0000269PubMed:22634753}.

Subcellular Localization

Mitochondrion inner membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}; Matrix side {ECO:0000305}.

Disease Associations

Glucocorticoid deficiency 4 (GCCD4) [MIM:614736]: A rare, potentially lethal, autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements. {ECO:0000269PubMed:22634753}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed with expression most readily detectable in adrenal, heart, kidney, thyroid and adipose tissues. {ECO:0000269PubMed:22634753}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.

Experimentally validated
Total	21 [view]
Protein-Protein	21 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003957	NAD(P)+ transhydrogenase (B-specific) activity
GO:0008746	NAD(P)+ transhydrogenase activity
GO:0008750	NAD(P)+ transhydrogenase (AB-specific) activity
GO:0016491	oxidoreductase activity
GO:0050661	NADP binding
GO:0051287	NAD binding

Biological Process

GO:0006099	tricarboxylic acid cycle
GO:0015992	proton transport
GO:0044237	cellular metabolic process
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process
GO:0072593	reactive oxygen species metabolic process
GO:1902600	hydrogen ion transmembrane transport

Cellular Component

GO:0005739	mitochondrion
GO:0005743	mitochondrial inner membrane
GO:0005746	mitochondrial respiratory chain
GO:0016020	membrane
GO:0016021	integral component of membrane

Protein Structure and Domains

PDB ID

InterPro

IPR007698 Alanine dehydrogenase/pyridine nucleotide transhydrogenase, NAD(H)-binding domain
IPR007886 Alanine dehydrogenase/pyridine nucleotide transhydrogenase, N-terminal
IPR012136 NADP transhydrogenase, beta subunit
IPR026255 NAD(P) transhydrogenase, alpha subunit
IPR029035 DHS-like NAD/FAD-binding domain

PFAM

PF01262
PF05222
PF02233

PRINTS

PIRSF

PIRSF000204
PIRSF000203

SMART

SM01002
SM01003

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt