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Aliases for NNT Gene

Aliases for NNT Gene

  • Nicotinamide Nucleotide Transhydrogenase 2 3 4 5
  • Pyridine Nucleotide Transhydrogenase 3 4
  • EC 1.6.1.2 4 63
  • GCCD4 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 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include oxidoreductase activity and NADP binding.

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

Promoters for NNT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NNT on UCSC Golden Path with GeneCards custom track

Genomic Location for NNT Gene

Chromosome:
5
Start:
43,602,689 bp from pter
End:
43,707,405 bp from pter
Size:
104,717 bases
Orientation:
Plus strand

Genomic View for NNT Gene

Genes around NNT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NNT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Q13423-NNTM_HUMAN
    Recommended name:
    NAD(P) transhydrogenase, mitochondrial
    Protein Accession:
    Q13423
    Secondary Accessions:
    • Q16796
    • Q2TB60
    • Q8N3V4

    Protein attributes for NNT Gene

    Size:
    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 Lys 55
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for NNT Gene

Graphical View of Domain Structure for InterPro Entry

Q13423

UniProtKB/Swiss-Prot:

NNTM_HUMAN :
  • In the N-terminal section; belongs to the AlaDH/PNT family.
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:
NADPH + NAD(+) = NADP(+) + NADH.
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

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

Human Phenotype Ontology for NNT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for NNT

miRNA for NNT Gene

miRTarBase miRNAs that target NNT

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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

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

No data available for Gene Ontology (GO) - Cellular Components for NNT Gene

Pathways & Interactions 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:0006740 NADPH regeneration IBA --
GO:0045454 cell redox homeostasis IEA --
GO:0072593 reactive oxygen species metabolic process IMP 22634753
genes like me logo Genes that share ontologies with NNT: view

No data available for SIGNOR curated interactions for NNT Gene

Drugs & Compounds for NNT Gene

(8) Drugs for NNT Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
2'-Monophosphoadenosine 5'-Diphosphoribose Experimental Pharma Target 0
Tatp Experimental Pharma Target 0
NADH Nutra Target 0
NAD Pharma Full agonist, Agonist 0

(4) Additional Compounds for NNT Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
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
NNT
ECgene alternative splicing isoforms for
NNT

Expression for NNT Gene

mRNA expression in normal human tissues for NNT Gene

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

This gene is overexpressed in Heart - Left Ventricle (x6.9), Muscle - Skeletal (x6.1), and Heart - Atrial Appendage (x4.0).

Protein differential expression in normal tissues from HIPED for NNT Gene

This gene is overexpressed in Heart (23.1).

Integrated Proteomics: protein expression in normal tissues and cell lines 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

Q13423-NNTM_HUMAN
Tissue specificity: Widely expressed with expression most readily detectable in adrenal, heart, kidney, thyroid and adipose tissues.
genes like me logo Genes that share expression patterns with NNT: view

Protein tissue co-expression partners for NNT Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for NNT Gene

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
cow
(Bos Taurus)
Mammalia NNT 35
  • 91.71 (n)
  • 97.15 (a)
NNT 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NNT 35
  • 92.33 (n)
  • 96.59 (a)
NNT 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NNT 35
  • 99.6 (n)
  • 99.82 (a)
NNT 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nnt 35
  • 86.49 (n)
  • 93.09 (a)
oppossum
(Monodelphis domestica)
Mammalia NNT 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nnt 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NNT 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves NNT 35
  • 78.53 (n)
  • 88.66 (a)
NNT 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NNT 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nnt 35
  • 76.92 (n)
  • 87.2 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
nnt 35
  • 72.29 (n)
  • 82.84 (a)
nnt 36
  • 83 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10162 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003167 35
  • 61.92 (n)
  • 67.36 (a)
worm
(Caenorhabditis elegans)
Secernentea nnt-1 37
  • 61 (a)
nnt-1 35
  • 59.75 (n)
  • 63.44 (a)
nnt-1 36
  • 62 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU01140 35
  • 56.96 (n)
  • 57.65 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6124 36
  • 67 (a)
OneToOne
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

ENSEMBL:
Gene Tree for NNT (if available)
TreeFam:
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
VAR_068781 Glucocorticoid deficiency 4 (GCCD4)
VAR_068782 Glucocorticoid deficiency 4 (GCCD4)
VAR_068783 Glucocorticoid deficiency 4 (GCCD4)
VAR_068784 Glucocorticoid deficiency 4 (GCCD4)
VAR_068785 Glucocorticoid deficiency 4 (GCCD4)

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

Variation tolerance for NNT Gene

Residual Variation Intolerance Score: 6.75% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.64; 72.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NNT Gene

HapMap Linkage Disequilibrium report
NNT
Human Gene Mutation Database (HGMD)
NNT

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

Disorders for NNT Gene

MalaCards: The human disease database

(8) MalaCards diseases for NNT Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
glucocorticoid deficiency 4
  • familial glucocorticoid deficiency 4
familial glucocorticoid deficiency
  • acth resistance
adrenal rest tumor
  • adrenal rest neoplasm
image syndrome
  • intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities
achalasia-addisonianism-alacrimia syndrome
  • triple-a syndrome
- elite association - COSMIC cancer census association via MalaCards
Search NNT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NNTM_HUMAN
  • 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.

Relevant External Links for NNT

Genetic Association Database (GAD)
NNT
Human Genome Epidemiology (HuGE) Navigator
NNT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NNT
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 67
  2. Mapping of the rat and mouse nicotinamide nucleotide transhydrogenase gene. (PMID: 9271681) Arkblad E.L. … RydstrAPm J. (Mamm. Genome 1997) 2 3
  3. 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 23
  4. 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
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3

Products for NNT Gene

Sources for NNT Gene

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