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Nnt Gene Detail
Summary
  • Symbol
    Nnt
  • Name
    nicotinamide nucleotide transhydrogenase
  • Synonyms
    4930423F13Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:109279
    NCBI Gene: 18115
  • Gene Overview
    MyGene.info: NNT
Location & Maps
more
  • Sequence Map
    Chr13:119335448-119408997 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      73550 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 67.21 cM, cytoband D2
  • Mapping Data
    8 experiments
Homology
more
  • Human Ortholog
    NNT, nicotinamide nucleotide transhydrogenase
  • Human Ortholog
    NNT, nicotinamide nucleotide transhydrogenase
    Orthology source: HGNC
  • Synonyms
    GCCD4
  • Links
    NCBI Gene ID: 23530
    neXtProt AC: NX_Q13423

  • Chr Location
    5p12; chr5:43602689-43705566 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human NNT associations

Human Disease Mouse Models
       Glucocorticoid Deficiency 4; GCCD4   OMIM: 614736
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    4 phenotypes from 3 alleles in 2 genetic backgrounds
    17 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    26
  • Chemically induced (ENU)
    2
  • Gene trapped
    21
  • Spontaneous
    1
  • Targeted
    2
  • Incidental Mutations
Mutations in this gene cause impaired glucose tolerance and loss of both glucose-dependent insulin secretion and ATP production in isolated pancreatic islets. Also, beta cells from ENU-induced mutants show enhanced glucose utilization and production of reactive oxygen species in response to glucose.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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  • All Sequences
  • RefSeq
  • UniProt
  • UniGene
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021068 VEGA Gene Model | MGI Sequence Detail 73550 C57BL/6J ±  kb
transcript OTTMUST00000049835 VEGA | MGI Sequence Detail 3464 Not Applicable  
polypeptide OTTMUSP00000023153 VEGA | MGI Sequence Detail 835 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    647 from dbSNP Build 142
Protein
Information
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  • UniProt
    9 Sequences
  • Protein Ontology
    PR:000011298 NAD(P) transhydrogenase, mitochondrial
  • EC
  • InterPro Domains
    IPR008142 Alanine dehydrogenase/NAD(P) transhydrogenase, conserved site-1
    IPR008143 Alanine dehydrogenase/pyridine nucleotide transhydrogenase, conserved site-2
    IPR007698 Alanine dehydrogenase/pyridine nucleotide transhydrogenase, NAD(H)-binding domain
    IPR007886 Alanine dehydrogenase/pyridine nucleotide transhydrogenase, N-terminal
    IPR029035 DHS-like NAD/FAD-binding domain
    IPR016040 NAD(P)-binding domain
    IPR026255 NAD(P) transhydrogenase, alpha subunit
    IPR024605 NAD(P) transhydrogenase, alpha subunit, C-terminal
    IPR012136 NADP transhydrogenase, beta subunit
    IPR030168 NAD(P) transhydrogenase, mitochondrial
Molecular
Reagents
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  • All nucleic 137
    Genomic 2
    cDNA 134
    Primer pair 1

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-38324, MGI:1925375, MGI:2145209, MGI:2145477
References
more
  • Summaries
    All 54
    Developmental Gene Expression 3
    Gene Ontology 6
    Phenotypes 17
  • Earliest
    J:32221 Arkblad EL, et al., The cDNA sequence of proton-pumping nicotinamide nucleotide transhydrogenase from man and mouse. Biochim Biophys Acta. 1996 Mar 28;1273(3):203-5
  • Latest
    J:228094 Nickel AG, et al., Reversal of Mitochondrial Transhydrogenase Causes Oxidative Stress in Heart Failure. Cell Metab. 2015 Sep 1;22(3):472-84

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory