About   Help   FAQ
Nr5a1
Gene Detail
Symbol

Name
ID
Nr5a1
nuclear receptor subfamily 5, group A, member 1
MGI:1346833
Synonyms
Ad4BP, adrenal 4-binding protein, ELP, Ftzf1, Ftz-F1, SF1, SF-1, steroidogenic factor 1
Feature Type
protein coding gene
Genetic Map
Chromosome 2
24.42 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr2:38692656-38714542 bp, - strand
From VEGA annotation of GRCm38

  21887 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:3638  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog

Protein SuperFamily: steroidogenic factor-like nuclear receptor
Gene Tree: Nr5a1

Human
homologs
Human Homolog NR5A1, nuclear receptor subfamily 5, group A, member 1
NCBI Gene ID 2516
neXtProt AC  NX_Q13285
Human Synonyms  AD4BP, ELP, FTZ1, FTZF1, POF7, SF1, SF-1, SPGF8, SRXY3
Human Chr (Location)  9q33; chr9:124481232-124507487 (-)  GRCh38
Disease Associations  (4) Diseases Associated with Human NR5A1
Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Targeted(8)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Interactions
Nr5a1 interacts with 164 markers (Mir15a, Mir17, Mir20b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (46 annotations)
Process adrenal gland development, cell differentiation, ...
Component nucleus
Function chromatin binding, DNA binding, ...
External Resources: FuncBase
Expression
Literature Summary: (154 records)
Data Summary: Results (393)    Tissues (231)    Images (90)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 34
RNA in situ 247
RT-PCR 110
RNase protection 2
cDNA source data(20)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(41) Genomic(3) cDNA(23) Primer pair(10) Other(5)
Microarray probesets(7)
Other database
links
VEGA Gene ModelOTTMUSG00000012867 (Evidence)
Ensembl Gene ModelENSMUSG00000026751 (Evidence)
Entrez Gene26423 (Evidence)
UniGene31387
DFCITC1710050, TC1583024
DoTSDT.101300337, DT.97360515, DT.91327895, DT.40158288
NIA Mouse Gene IndexU022569
PDB3F7D, 1YMT, 2FF0, 1YP0
Consensus CDS ProjectCCDS16011.1
International Mouse Knockout Project StatusNr5a1
Sequences
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 sequences
All sequences(53) RefSeq(16) UniProt(5)
Polymorphisms
All PCR and RFLP(2) : PCR(1) RFLP(1) SNPs within 2kb(178 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR008946 Nuclear hormone receptor, ligand-binding
InterPro IPR000536 Nuclear hormone receptor, ligand-binding, core
InterPro IPR001723 Steroid hormone receptor
InterPro IPR016355 Steroidogenic factor 1
InterPro IPR013088 Zinc finger, NHR/GATA-type
InterPro IPR001628 Zinc finger, nuclear hormone receptor-type
Protein Ontology PR:000011411 steroidogenic factor 1
References
(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:214133 Nantie LB, et al., Notch signaling in postnatal pituitary expansion: proliferation, progenitors, and cell specification. Mol Endocrinol. 2014 May;28(5):731-44
All references(266)
Other
accession IDs
MGD-MRK-9890, MGI:95591

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
12/16/2014
MGI 5.20
The Jackson Laboratory