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

Gene ID: 18115, updated on 11-Apr-2024

Summary

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 NAD binding activity; NAD(P)+ transhydrogenase activity; and NADP binding activity. Predicted to be involved in several processes, including cell redox homeostasis; 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, Apr 2022]
Expression
Broad expression in heart adult (RPKM 133.4), kidney adult (RPKM 53.7) and 23 other tissues See more
Orthologs
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Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables NAD(P)+ transhydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
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
 
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
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

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_001308506.1NP_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:371828
    PNTB; NAD(P) transhydrogenase beta subunit
    cl21454
    Location:57369
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  2. NM_008710.3NP_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:57587
    pntA; NAD(P) transhydrogenase subunit alpha; Provisional
    cd05304
    Location:57432
    Rubrum_tdh; Rubrum transdehydrogenase NAD-binding and catalytic domains
    pfam02233
    Location:6221079
    PNTB; NAD(P) transhydrogenase beta subunit
    pfam12769
    Location:502587
    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)