Homo sapiens Protein: NNT | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-19694.6 | ||||||||||||||||||
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 | ENSP00000343873 | ||||||||||||||||||
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.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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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 |
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PFAM |
PF01262
PF05222 PF02233 |
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PRINTS | |||||||||||||||||||
PIRSF |
PIRSF000204
PIRSF000203 |
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SMART |
SM01002
SM01003 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q13423 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q13423 | ||||||||||||||||||
TrEMBL | E9PCX7 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 23530 | ||||||||||||||||||
UniGene | Hs.676575 | ||||||||||||||||||
RefSeq | NP_892022 | ||||||||||||||||||
HUGO | HGNC:7863 | ||||||||||||||||||
OMIM | 607878 | ||||||||||||||||||
CCDS | CCDS3949 | ||||||||||||||||||
HPRD | 09715 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AC010435 AL831822 BC110543 CH471119 U40490 Z50101 | ||||||||||||||||||
GenPept | AAC51914 AAI10544 CAA90428 CAD38536 EAW56073 EAW56074 | ||||||||||||||||||