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Aliases for NNT Gene

Aliases for NNT Gene

  • Nicotinamide Nucleotide Transhydrogenase 2 3 4
  • Pyridine Nucleotide Transhydrogenase 3 4
  • EC 4 63
  • GCCD4 3 6
  • NAD(P) Transhydrogenase, Mitochondrial 3

External Ids for NNT Gene

Previous GeneCards Identifiers for NNT Gene

  • GC05P043918
  • GC05P044779
  • GC05P043602
  • GC05P043648

Summaries for NNT Gene

Entrez Gene Summary for NNT Gene

  • 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. Two alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for NNT Gene

NNT (Nicotinamide Nucleotide Transhydrogenase) is a Protein Coding gene. Diseases associated with NNT include glucocorticoid deficiency 4 and familial glucocorticoid deficiency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include NADP binding and NAD(P)+ transhydrogenase (B-specific) activity.

UniProtKB/Swiss-Prot for NNT Gene

  • 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.

Gene Wiki entry for NNT Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NNT Gene

Genomics for NNT Gene

Regulatory Elements for NNT Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NNT Gene

43,602,689 bp from pter
43,707,405 bp from pter
104,717 bases
Plus strand

Genomic View for NNT Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NNT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NNT Gene

Proteins for NNT Gene

  • Protein details for NNT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    NAD(P) transhydrogenase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • Q16796
    • Q2TB60
    • Q8N3V4

    Protein attributes for NNT Gene

    1086 amino acids
    Molecular mass:
    113896 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for NNT Gene

neXtProt entry for NNT Gene

Proteomics data for NNT Gene at MOPED

Post-translational modifications for NNT Gene

  • Ubiquitination at Lys55
  • Modification sites at PhosphoSitePlus

Other Protein References for NNT Gene

Antibody Products

Domains for NNT Gene

Graphical View of Domain Structure for InterPro Entry



  • In the N-terminal section; belongs to the AlaDH/PNT family.
  • In the N-terminal section; belongs to the AlaDH/PNT family.
  • In the C-terminal section; belongs to the PNT beta subunit family.
genes like me logo Genes that share domains with NNT: view

No data available for Gene Families for NNT Gene

Function for NNT Gene

Molecular function for NNT Gene

GENATLAS Biochemistry:
nicotinamide nucleotide transhydrogenase,integral protein of the inner mitochondrial membrane,proton-pumping,ortholog to bovin and mouse enzymes
UniProtKB/Swiss-Prot CatalyticActivity:
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for NNT Gene

Gene Ontology (GO) - Molecular Function for NNT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003957 NAD(P)+ transhydrogenase (B-specific) activity TAS 9524818
GO:0008746 NAD(P)+ transhydrogenase activity EXP --
GO:0008750 NAD(P)+ transhydrogenase (AB-specific) activity IEA --
GO:0016491 oxidoreductase activity --
GO:0050661 NADP binding IDA 10673423
genes like me logo Genes that share ontologies with NNT: view
genes like me logo Genes that share phenotypes with NNT: view

Animal Model Products

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for NNT Gene

Localization for NNT Gene

Subcellular locations from UniProtKB/Swiss-Prot for NNT Gene

Mitochondrion inner membrane; Multi-pass membrane protein; Matrix side.

Subcellular locations from

Jensen Localization Image for NNT Gene COMPARTMENTS Subcellular localization image for NNT gene
Compartment Confidence
mitochondrion 5
plasma membrane 3
endoplasmic reticulum 1
golgi apparatus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for NNT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS 10673423
GO:0005746 mitochondrial respiratory chain TAS 10673423
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NNT: view

Pathways for NNT Gene

genes like me logo Genes that share pathways with NNT: view

Pathways by source for NNT Gene

Gene Ontology (GO) - Biological Process for NNT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006099 tricarboxylic acid cycle TAS 10673423
GO:0015992 proton transport TAS 10673423
GO:0044237 cellular metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
GO:0045454 cell redox homeostasis IEA --
genes like me logo Genes that share ontologies with NNT: view

Compounds for NNT Gene

(3) Drugbank Compounds for NNT Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
2'-Monophosphoadenosine 5'-Diphosphoribose
46936685 Target experimental
17088-37-8 46936208 Target experimental
  • 1,4-dihydronicotinamide adenine dinucleotide
606-68-8 439153 Target nutraceutical

(4) HMDB Compounds for NNT Gene

Compound Synonyms Cas Number PubMed IDs
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
  • 1,4-Dihydronicotinamide adenine dinucleotide
  • Adenine-nicotinamide dinucleotide phosphate
  • 2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide

(6) Novoseek inferred chemical compound relationships for NNT Gene

Compound -log(P) Hits PubMed IDs
nicotinamide mononucleotide 96.8 17
nicotinamide 50.4 2
hydrogen 30.8 4
atp 16.6 1
alanine 14.7 2
genes like me logo Genes that share compounds with NNT: view

Transcripts for NNT Gene

Unigene Clusters for NNT Gene

Nicotinamide nucleotide transhydrogenase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NNT Gene

No ASD Table

Relevant External Links for NNT Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for NNT Gene

mRNA expression in normal human tissues for NNT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NNT Gene

This gene is overexpressed in Heart - Left Ventricle (6.9), Muscle - Skeletal (6.1), and Heart - Atrial Appendage (4.0).

Protein differential expression in normal tissues for NNT Gene

This gene is overexpressed in Heart (23.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NNT Gene

SOURCE GeneReport for Unigene cluster for NNT Gene Hs.482043

mRNA Expression by UniProt/SwissProt for NNT Gene

Tissue specificity: Widely expressed with expression most readily detectable in adrenal, heart, kidney, thyroid and adipose tissues.
genes like me logo Genes that share expressions with NNT: view

Expression partners for NNT Gene

* - Elite partner

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

Orthologs for NNT Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NNT Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia NNT 35
  • 91.71 (n)
  • 97.15 (a)
NNT 36
  • 97 (a)
(Canis familiaris)
Mammalia NNT 35
  • 92.33 (n)
  • 96.59 (a)
NNT 36
  • 96 (a)
(Pan troglodytes)
Mammalia NNT 35
  • 99.6 (n)
  • 99.82 (a)
NNT 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Nnt 35
  • 86.49 (n)
  • 93.09 (a)
(Mus musculus)
Mammalia Nnt 16
Nnt 36
  • 94 (a)
(Monodelphis domestica)
Mammalia NNT 36
  • 92 (a)
(Ornithorhynchus anatinus)
Mammalia NNT 36
  • 90 (a)
(Gallus gallus)
Aves NNT 35
  • 78.53 (n)
  • 88.66 (a)
NNT 36
  • 88 (a)
(Anolis carolinensis)
Reptilia NNT 36
  • 90 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia nnt 35
  • 76.92 (n)
  • 87.2 (a)
(Danio rerio)
Actinopterygii -- 35
nnt 35
  • 72.29 (n)
  • 82.84 (a)
nnt 36
  • 83 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10162 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003167 35
  • 61.92 (n)
  • 67.36 (a)
(Caenorhabditis elegans)
Secernentea nnt-1 37
  • 61 (a)
nnt-1 35
  • 59.75 (n)
  • 63.44 (a)
nnt-1 36
  • 62 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU01140 35
  • 56.96 (n)
  • 57.65 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6124 36
  • 67 (a)
Species with no ortholog for NNT:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NNT Gene

Gene Tree for NNT (if available)
Gene Tree for NNT (if available)

Paralogs for NNT Gene

No data available for Paralogs for NNT Gene

Variants for NNT Gene

Sequence variations from dbSNP and Humsavar for NNT Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs14491 -- 43,705,433(-) AAAAA(A/G)CCACC utr-variant-3-prime
rs716960 -- 43,705,689(-) CTAAA(C/T)GCGAG downstream-variant-500B
rs768357 -- 43,674,744(-) AACTG(A/G/T)TCTGG intron-variant
rs966965 -- 43,675,413(-) TAAAA(G/T)GTTTA intron-variant
rs1053082 -- 43,623,863(-) CTATT(C/T)TTTAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NNT Gene

Variant ID Type Subtype PubMed ID
dgv6043n71 CNV Gain 21882294
nsv830275 CNV Gain 17160897

Relevant External Links for NNT Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NNT Gene

Disorders for NNT Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for NNT Gene in MalaCards »

(2) Diseases for NNT Gene

(1) OMIM Diseases for NNT Gene (607878)


  • 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:0000269 PubMed:22634753}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for NNT Gene

(2) Novoseek inferred disease relationships for NNT Gene

Disease -log(P) Hits PubMed IDs
glucose intolerance 55.3 2
tuberculosis 7.29 2

Relevant External Links for NNT

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with NNT: view

No data available for Genatlas for NNT Gene

Publications for NNT Gene

  1. Cloning and deduced amino acid sequence of human nicotinamide nucleotide transhydrogenase. (PMID: 9524818) Ware J. … Zieger B. (DNA Seq. 1997) 2 3 4 23
  2. The cDNA sequence of proton-pumping nicotinamide nucleotide transhydrogenase from man and mouse. (PMID: 8616157) Lagberg E.M. … Rydstrom J. (Biochim. Biophys. Acta 1996) 3 4 23
  3. Oxidative modification of nicotinamide nucleotide transhydrogenase in submitochondrial particles: effect of endogenous ubiquinol. (PMID: 8951041) Forsmark-AndrAce P. … Ernster L. (Arch. Biochem. Biophys. 1996) 3 23
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48
  5. Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. (PMID: 22634753) Meimaridou E. … Metherell L.A. (Nat. Genet. 2012) 3 4

Products for NNT Gene

Sources for NNT Gene

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