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Nrf1 Gene Detail
Summary
  • Symbol
    Nrf1
  • Name
    nuclear respiratory factor 1
  • Synonyms
    D6Ertd415e
  • Feature Type
    protein coding gene
  • IDs
    MGI:1332235
    NCBI Gene: 18181
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:30047987-30153457 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 12.47 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2295 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1332235
 protein coding gene Chr6:30047984-30153462 (+)
129S1/SvImJ MGP_129S1SvImJ_G0030533
 protein coding gene Chr6:27884959-28003444 (+)
A/J MGP_AJ_G0030506
 protein coding gene Chr6:26702608-26808905 (+)
AKR/J MGP_AKRJ_G0030433
 protein coding gene Chr6:27580597-27692581 (+)
BALB/cJ MGP_BALBcJ_G0030516
 protein coding gene Chr6:26860761-26965829 (+)
C3H/HeJ MGP_C3HHeJ_G0030229
 protein coding gene Chr6:27588933-27694720 (+)
C57BL/6NJ MGP_C57BL6NJ_G0030970
 protein coding gene Chr6:28700585-28815631 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028181
 protein coding gene Chr6:24908589-25016465 (+)
CAST/EiJ MGP_CASTEiJ_G0029631
 protein coding gene Chr6:27396067-27507751 (+)
CBA/J MGP_CBAJ_G0030207
 protein coding gene Chr6:29778065-29888932 (+)
DBA/2J MGP_DBA2J_G0030351
 protein coding gene Chr6:26639093-26745342 (+)
FVB/NJ MGP_FVBNJ_G0030305
 protein coding gene Chr6:26395648-26506175 (+)
LP/J MGP_LPJ_G0030438
 protein coding gene Chr6:28032432-28140861 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030341
 protein coding gene Chr6:32256482-32365456 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031000
 protein coding gene Chr6:27475006-27582152 (+)
PWK/PhJ MGP_PWKPhJ_G0029345
 protein coding gene Chr6:26201744-26307722 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029181
 protein coding gene Chr6:27198851-27314954 (+)
WSB/EiJ MGP_WSBEiJ_G0029707
 protein coding gene Chr6:27435590-27550113 (+)



Homology
more
  • Human Ortholog
    NRF1, nuclear respiratory factor 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NRF1, nuclear respiratory factor 1
  • Synonyms
    ALPHA-PAL
  • Links
    NCBI Gene ID: 4899
    neXtProt AC: NX_Q16656
    UniProt: Q16656

  • Chr Location
    7q32.2; chr7:129611720-129757082 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human NRF1 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    24 phenotypes from 2 alleles in 3 genetic backgrounds
    16 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.
Mice homozygous for a knock-out allele exhibit early embryonic lethality associated with decreased cellular proliferation and mitochondrial DNA content. Mice homozygous for a conditional allele activated in the retina exhibit RGC degeneration associated with abnormal mitochondria.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    18
  • GO References
    7
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
    835
  • Tissues
    42
  • cDNA Data
    91
  • Literature Summary
    21
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000058440 Ensembl Gene Model | MGI Sequence Detail 105471 C57BL/6J ±  kb
    transcript ENSMUST00000115206 Ensembl | MGI Sequence Detail 1879 Not Applicable  
    polypeptide ENSMUSP00000110860 Ensembl | MGI Sequence Detail 534 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 94
      cDNA 91
      Primer pair 2
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:1196416, MGI:2141782
    References
    more
    • Summaries
      All 103
      Developmental Gene Expression 21
      Gene Ontology 7
      Phenotypes 16
    • Earliest
      J:56445 Huo L, et al., Multiple 5'-untranslated exons in the nuclear respiratory factor 1 gene span 47 kb and contribute to transcript heterogeneity and translational efficiency. Gene. 1999 Jun 11;233(1-2):213-24
    • Latest
      J:353292 Akl MG, et al., Protective Effects of Hepatocyte Stress Defenders, Nrf1 and Nrf2, against MASLD Progression. Int J Mol Sci. 2024 Jul 24;25(15)
    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
    12/17/2024
    MGI 6.24     		The Jackson Laboratory