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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, SF1, SF-1, steroidogenic factor 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1346833
    NCBI Gene: 26423
  • Gene Overview
    MyGene.info: NR5A1
Location & Maps
more
  • Sequence Map
    Chr2:38692656-38714542 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      21887 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 24.42 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    NR5A1, nuclear receptor subfamily 5 group A member 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    NR5A1, nuclear receptor subfamily 5 group A member 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AD4BP, ELP, FTZ1, FTZF1, hSF-1, POF7, SF1, SF-1, SPGF8, SRXY3
  • Links
    NCBI Gene ID: 2516
    neXtProt AC: NX_Q13285

  • Chr Location
    9q33; chr9:124481232-124507448 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    4 with human NR5A1 associations

Human Disease Mouse Models
       46,xy Sex Reversal 3; SRXY3   OMIM: 612965
Nuclear Receptor Subfamily 5, Group A, Member 1; NR5A1   OMIM: 184757
Premature Ovarian Failure 7; POF7   OMIM: 612964
Spermatogenic Failure 8; SPGF8   OMIM: 613957
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    76 phenotypes from 8 alleles in 10 genetic backgrounds
    1 phenotype from multigenic genotypes
    68 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.
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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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000012867 VEGA Gene Model | MGI Sequence Detail 21887 C57BL/6J ±  kb
transcript OTTMUST00000030854 VEGA | MGI Sequence Detail 2994 Not Applicable  
polypeptide OTTMUSP00000013824 VEGA | MGI Sequence Detail 462 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    163 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
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Molecular
Reagents
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  • All nucleic 45
    Genomic 3
    cDNA 23
    Primer pair 14
    Other 5

    Microarray probesets 7
Other
Accession IDs
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MGD-MRK-9890, MGI:95591
References
more
  • Summaries
    All 279
    Developmental Gene Expression 168
    Gene Ontology 24
    Phenotypes 68
  • 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:233841 Inoue M, et al., Isolation and Characterization of Fetal Leydig Progenitor Cells of Male Mice. Endocrinology. 2016 Mar;157(3):1222-33

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/23/2016
MGI 6.05
The Jackson Laboratory