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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
  • Alliance
    gene page
  • Transcription Start Sites
    12 TSS
  • Candidate for QTL
    1 QTL
Location &
Maps
more
  • Sequence Map
    Chr13:119472063-119545793 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 67.21 cM, cytoband D2
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1976 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109279
 protein coding gene Chr13:119471984-119545793 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020969
 protein coding gene Chr13:122326731-122426482 (-)
A/J MGP_AJ_G0020919
 protein coding gene Chr13:117370989-117461977 (-)
AKR/J MGP_AKRJ_G0020894
 protein coding gene Chr13:120847849-120940337 (-)
BALB/cJ MGP_BALBcJ_G0020919
 protein coding gene Chr13:118050489-118140962 (-)
C3H/HeJ MGP_C3HHeJ_G0020708
 protein coding gene Chr13:120655453-120749334 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021355
 protein coding gene Chr13:125898981-125995302 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018924
 protein coding gene Chr13:112362536-112452283 (-)
CAST/EiJ MGP_CASTEiJ_G0020227
 protein coding gene Chr13:120527696-120640878 (-)
CBA/J MGP_CBAJ_G0020670
 protein coding gene Chr13:130738402-130842154 (-)
DBA/2J MGP_DBA2J_G0020793
 protein coding gene Chr13:116977050-117078226 (-)
FVB/NJ MGP_FVBNJ_G0020777
 protein coding gene Chr13:115585628-115675488 (-)
LP/J MGP_LPJ_G0020869
 protein coding gene Chr13:122293133-122389599 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020805
 protein coding gene Chr13:131380376-131477527 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021391
 protein coding gene Chr13:120350261-120446162 (-)
PWK/PhJ MGP_PWKPhJ_G0019980
 protein coding gene Chr13:115868649-115961521 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019803
 protein coding gene Chr13:116678183-116843549 (-)
WSB/EiJ MGP_WSBEiJ_G0020285
 protein coding gene Chr13:121023673-121120472 (-)



Homology
more
  • Human Ortholog
    NNT, nicotinamide nucleotide transhydrogenase
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NNT, nicotinamide nucleotide transhydrogenase
  • Synonyms
    GCCD4
  • Links
    NCBI Gene ID: 23530
    neXtProt AC: NX_Q13423
    UniProt: Q13423

  • Chr Location
    5p12; chr5:43602675-43707405 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human NNT associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    10 phenotypes from 4 alleles in 3 genetic backgrounds
    53 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.
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
less
  • All GO Annotations
    20
  • GO References
    10
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    185
  • Tissues
    102
  • cDNA Data
    129
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18115 NCBI Gene Model | MGI Sequence Detail 73731 C57BL/6J ±  kb
    transcript NM_008710 RefSeq | MGI Sequence Detail 5355 Not Specified  
    polypeptide Q61941 UniProt | EBI | MGI Sequence Detail 1086 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      9 Sequences
    • Protein Ontology
      PR:000011298 NAD(P) transhydrogenase, mitochondrial
      (term hierarchy)
    • EC
      7.1.1.1
    • 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 superfamily
      IPR036291 NAD(P)-binding domain superfamily
      IPR026255 NAD(P) transhydrogenase, alpha subunit
      IPR024605 NAD(P) transhydrogenase, alpha subunit, C-terminal
      IPR034300 NADP transhydrogenase beta-like domain
    • GlyGen
      Q61941 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 138
      Genomic 2
      cDNA 135
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-38324, MGI:1925375, MGI:2145209, MGI:2145477
    References
    more
    • Summaries
      All 101
      Developmental Gene Expression 4
      Gene Ontology 10
      Phenotypes 53
    • 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:357723 Sirbulescu RF, et al., Allogeneic B cell immunomodulatory therapy in amyotrophic lateral sclerosis. FASEB J. 2024 Jul 15;38(13):e23796
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory