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    Nnt nicotinamide nucleotide transhydrogenase [ Mus musculus (house mouse) ]

    Gene ID: 18115, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Nntprovided by MGI
    Official Full Name
    nicotinamide nucleotide transhydrogenaseprovided by MGI
    Primary source
    MGI:MGI:109279
    See related
    Ensembl:ENSMUSG00000116207 AllianceGenome:MGI:109279
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    4930423F13Rik
    Summary
    Predicted to enable NADP binding activity. Predicted to be involved in several processes, including cell redox homeostasis; intracellular oxygen homeostasis; and positive regulation of hydrogen peroxide catabolic process. Located in mitochondrial inner membrane. Is expressed in several structures, including alimentary system; brain; musculature; respiratory system; and urinary system. Human ortholog(s) of this gene implicated in familial glucocorticoid deficiency. Orthologous to human NNT (nicotinamide nucleotide transhydrogenase). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in heart adult (RPKM 133.4), kidney adult (RPKM 53.7) and 23 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Nnt in Genome Data Viewer
    Location:
    13 D2.3; 13 67.21 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (119472063..119545793, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (119335527..119409257, complement)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene Fgf10 5' regulatory region Neighboring gene VISTA enhancer mm917 Neighboring gene Fgf10 intronic enhancer Neighboring gene STARR-seq mESC enhancer starr_35795 Neighboring gene fibroblast growth factor 10 Neighboring gene VISTA enhancer mm605 Neighboring gene nuclear transport factor 2 pseudogene Neighboring gene STARR-seq mESC enhancer starr_35797 Neighboring gene STARR-seq mESC enhancer starr_35799 Neighboring gene STARR-seq mESC enhancer starr_35800 Neighboring gene STARR-seq mESC enhancer starr_35802 Neighboring gene STARR-seq mESC enhancer starr_35803 Neighboring gene STARR-seq mESC enhancer starr_35804 Neighboring gene CapStarr-seq enhancer MGSCv37_chr13:120196902-120197103 Neighboring gene RIKEN cDNA 4833420G17 gene Neighboring gene STARR-positive B cell enhancer ABC_E7292 Neighboring gene polyadenylate binding protein-interacting protein 1 Neighboring gene predicted gene 9752

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Reversal of Mitochondrial Transhydrogenase Causes Oxidative Stress in Heart Failure. Nickel AG, et al. Cell Metab, 2015 Sep 1. PMID 26256392
    2. Flux through mitochondrial redox circuits linked to nicotinamide nucleotide transhydrogenase generates counterbalance changes in energy expenditure. Smith CD, et al. J Biol Chem, 2020 Nov 27. PMID 32747443, Free PMC Article
    3. Undesirable effects of chemical inhibitors of NAD(P)(+) transhydrogenase on mitochondrial respiratory function. Bicego R, et al. Arch Biochem Biophys, 2020 Oct 15. PMID 32781052
    4. Nicotinamide Nucleotide Transhydrogenase (Nnt) is Related to Obesity in Mice. Kunath A, et al. Horm Metab Res, 2020 Dec. PMID 32629517
    5. Nicotinamide nucleotide transhydrogenase is required for brain mitochondrial redox balance under hampered energy substrate metabolism and high-fat diet. Francisco A, et al. J Neurochem, 2018 Dec. PMID 30281804

    See all (104) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Ubiquitin-specific peptidase 47 (USP47) regulates cutaneous oxidative injury through nicotinamide nucleotide transhydrogenase (NNT).
      Title: Ubiquitin-specific peptidase 47 (USP47) regulates cutaneous oxidative injury through nicotinamide nucleotide transhydrogenase (NNT).
    2. NNT mediates redox-dependent pigmentation via a UVB- and MITF-independent mechanism.
      Title: NNT mediates redox-dependent pigmentation via a UVB- and MITF-independent mechanism.
    3. NADPH supply and the contribution of NAD(P)(+) transhydrogenase (NNT) to H2O2 balance in skeletal muscle mitochondria.
      Title: NADPH supply and the contribution of NAD(P)(+) transhydrogenase (NNT) to H(2)O(2) balance in skeletal muscle mitochondria.
    4. Nicotinamide Nucleotide Transhydrogenase (Nnt) is Related to Obesity in Mice.
      Title: Nicotinamide Nucleotide Transhydrogenase (Nnt) is Related to Obesity in Mice.
    5. Loss of Nnt Increases Expression of Oxidative Phosphorylation Complexes in C57BL/6J Hearts.
      Title: Loss of Nnt Increases Expression of Oxidative Phosphorylation Complexes in C57BL/6J Hearts.
    6. Selective NADH communication from alpha-ketoglutarate dehydrogenase to mitochondrial transhydrogenase prevents reactive oxygen species formation under reducing conditions in the heart.
      Title: Selective NADH communication from α-ketoglutarate dehydrogenase to mitochondrial transhydrogenase prevents reactive oxygen species formation under reducing conditions in the heart.
    7. Mylk3 null C57BL/6N mice develop cardiomyopathy, whereas Nnt null C57BL/6J mice do not.
      Title: Mylk3 null C57BL/6N mice develop cardiomyopathy, whereas Nnt null C57BL/6J mice do not.
    8. Flux through mitochondrial redox circuits linked to nicotinamide nucleotide transhydrogenase generates counterbalance changes in energy expenditure.
      Title: Flux through mitochondrial redox circuits linked to nicotinamide nucleotide transhydrogenase generates counterbalance changes in energy expenditure.
    9. Undesirable effects of chemical inhibitors of NAD(P)(+) transhydrogenase on mitochondrial respiratory function.
      Title: Undesirable effects of chemical inhibitors of NAD(P)(+) transhydrogenase on mitochondrial respiratory function.
    10. the role of NNT in the brain mitochondria redox balance especially comes into play under mitochondrial respiratory defects or high-fat diet
      Title: Nicotinamide nucleotide transhydrogenase is required for brain mitochondrial redox balance under hampered energy substrate metabolism and high-fat diet.
    Submit: New GeneRIF Correction See all GeneRIFs (28)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables NADP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables NADP binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables proton-translocating NAD(P)+ transhydrogenase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in NADPH regeneration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in NADPH regeneration ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cell redox homeostasis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cellular oxidant detoxification ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in intracellular oxygen homeostasis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of apoptotic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of protein phosphorylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of hydrogen peroxide catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of mitochondrial membrane potential ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in reactive oxygen species metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in reactive oxygen species metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane HDA PubMed 
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    NAD(P) transhydrogenase, mitochondrial
    Names
    pyridine nucleotide transhydrogenase
    NP_001295435.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001308506.1 → NP_001295435.1  NAD(P) transhydrogenase, mitochondrial isoform 2

      See identical proteins and their annotated locations for NP_001295435.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents the sequence transcribed from this locus in C57BL/6, which lacks five in-frame internal exons, compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1.
      Source sequence(s)
      AC154550, AK054332, BP768059, BY078900, BY093825
      Consensus CDS
      CCDS84067.1
      UniProtKB/TrEMBL
      Q8BGK0, Q8C9V5
      Related
      ENSMUSP00000152868.2, ENSMUST00000223268.2
      Conserved Domains (2) summary
      pfam02233
      Location:371 → 828
      PNTB; NAD(P) transhydrogenase beta subunit
      cl21454
      Location:57 → 369
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    2. NM_008710.3 → NP_032736.2  NAD(P) transhydrogenase, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_032736.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). This variant is not transcribed from this locus in C57BL/6, which lacks five in-frame internal exons.
      Source sequence(s)
      AK090115
      UniProtKB/Swiss-Prot
      Q61941, Q9JK70
      UniProtKB/TrEMBL
      Q8C1W8, Q922E1
      Conserved Domains (4) summary
      PRK09424
      Location:57 → 587
      pntA; NAD(P) transhydrogenase subunit alpha; Provisional
      cd05304
      Location:57 → 432
      Rubrum_tdh; Rubrum transdehydrogenase NAD-binding and catalytic domains
      pfam02233
      Location:622 → 1079
      PNTB; NAD(P) transhydrogenase beta subunit
      pfam12769
      Location:502 → 587
      PNTB_4TM; 4TM region of pyridine nucleotide transhydrogenase, mitoch

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000079.7 Reference GRCm39 C57BL/6J

      Range
      119472063..119545793 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q61941.2 GenPept UniProtKB/Swiss-Prot:Q61941

    Gene LinkOut

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    Chemical Information
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