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Nr5a1 Gene Detail
Summary
  • Symbol
    Nr5a1
  • Name
    nuclear receptor subfamily 5, group A, member 1
  • Synonyms
    Ad4BP, adrenal 4-binding protein, ELP, Ftzf1, Ftz-F1, SF-1, SF1, steroidogenic factor 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1346833
    NCBI Gene: 26423
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
  • Regulated by
    Rr401, Rr403, Rr402 ... (4 regulatory regions)
Location &
Maps
more
  • Sequence Map
    Chr2:38582668-38604554 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 24.42 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    493 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1346833
 protein coding gene Chr2:38582668-38604554 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025704
 protein coding gene Chr2:37458617-37476360 (-)
A/J MGP_AJ_G0025681
 protein coding gene Chr2:35922775-35940512 (-)
AKR/J MGP_AKRJ_G0025651
 protein coding gene Chr2:37106253-37129310 (-)
BALB/cJ MGP_BALBcJ_G0025676
 protein coding gene Chr2:35971792-35989511 (-)
C3H/HeJ MGP_C3HHeJ_G0025437
 protein coding gene Chr2:37017475-37035188 (-)
C57BL/6NJ MGP_C57BL6NJ_G0026122
 protein coding gene Chr2:38492159-38510864 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023527
 protein coding gene Chr2:34571185-34592884 (-)
CAST/EiJ MGP_CASTEiJ_G0024900
 protein coding gene Chr2:36969351-36991252 (-)
CBA/J MGP_CBAJ_G0025416
 protein coding gene Chr2:39934676-39952386 (-)
DBA/2J MGP_DBA2J_G0025548
 protein coding gene Chr2:35665273-35682983 (-)
FVB/NJ MGP_FVBNJ_G0025510
 protein coding gene Chr2:35533453-35551152 (-)
LP/J MGP_LPJ_G0025635
 protein coding gene Chr2:37341011-37358697 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0025541
 protein coding gene Chr2:39539104-39556812 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0026180
 protein coding gene Chr2:36989694-37012744 (-)
PWK/PhJ MGP_PWKPhJ_G0024642
 protein coding gene Chr2:35572170-35591382 (-)
SPRET/EiJ MGP_SPRETEiJ_G0024447
 protein coding gene Chr2:37108440-37126218 (-)
WSB/EiJ MGP_WSBEiJ_G0024968
 protein coding gene Chr2:37168151-37187257 (-)



Homology
more
  • Human Ortholog
    NR5A1, nuclear receptor subfamily 5 group A member 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NR5A1, nuclear receptor subfamily 5 group A member 1
  • Synonyms
    AD4BP, ELP, FTZ1, FTZF1, hSF-1, POF7, SF-1, SF1, SPGF8, SRXX4, SRXY3
  • Links
    NCBI Gene ID: 2516
    neXtProt AC: NX_Q13285
    UniProt: Q13285

  • Chr Location
    9q33.3; chr9:124481236-124507420 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Nr5a1 mouse models; 5 with human NR5A1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    105 phenotypes from 10 alleles in 12 genetic backgrounds
    1 phenotype from multigenic genotypes
    108 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.
Homozygotes for targeted null mutations exhibit agenesis of the adrenal glands and gonads, defects of the ventromedial hypothalamic nucleus, impaired pituitary gonadotroph function, and neonatal lethality. Homozygosity for a critical point mutation results in absence of adrenal glands, sex reversal in males and early postnatal lethality.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    110
  • GO References
    29
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
    1448
  • Tissues
    327
  • cDNA Data
    22
  • Literature Summary
    259
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 26423 NCBI Gene Model | MGI Sequence Detail 21887 C57BL/6J ±  kb
    transcript NM_001316687 RefSeq | MGI Sequence Detail 2994 ZRU/MplStud  
    polypeptide P33242 UniProt | EBI | MGI Sequence Detail 462 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 60
      Genomic 3
      cDNA 26
      Primer pair 22
      Other 9

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-9890, MGI:95591
    References
    more
    • Summaries
      All 428
      Developmental Gene Expression 259
      Diseases 1
      Gene Ontology 29
      Phenotypes 108
    • Earliest
      J:2248 Lala DS, et al., Steroidogenic factor I, a key regulator of steroidogenic enzyme expression, is the mouse homolog of fushi tarazu-factor I. Mol Endocrinol. 1992 Aug;6(8):1249-58
    • Latest
      J:359861 Kay RGG, et al., Gonadal sex reversal at single-cell resolution in Znrf3-deficient mice. Development. 2024 Dec 1;151(23)
    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
    03/25/2025
    MGI 6.24     		The Jackson Laboratory