About   Help   FAQ
Gene Detail
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
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
HomoloGene:3638  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 western clawed frog

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

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
alleles, and
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.
Nr5a1 interacts with 164 markers (Mir15a, Mir17, Mir20b, ...)
Gene Ontology
All GO classifications: (46 annotations)
Process adrenal gland development, cell differentiation, ...
Component nucleus
Function chromatin binding, DNA binding, ...
External Resources: FuncBase
Literature Summary: (148 records)
Data Summary: Results (393)    Tissues (231)    Images (90)
Theiler Stages: 2, 3, 5, 14, 15, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28
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
All nucleic(41) Genomic(3) cDNA(23) Primer pair(10) Other(5)
Microarray probesets(7)
Other database
VEGA Gene ModelOTTMUSG00000012867 (Evidence)
Ensembl Gene ModelENSMUSG00000026751 (Evidence)
Entrez Gene26423 (Evidence)
DFCITC1583024, TC1710050
DoTSDT.101300337, DT.40158288, DT.91327895, DT.97360515
NIA Mouse Gene IndexU022569
PDB1YMT, 3F7D, 1YP0, 2FF0
Consensus CDS ProjectCCDS16011.1
International Mouse Knockout Project StatusNr5a1
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(51) RefSeq(16) UniProt(3)
Polymorphisms All PCR and RFLP(2) : PCR(1) RFLP(1) SNPs within 2kb(178 from dbSNP Build 137)
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:204972 Wood MA, et al., Fetal adrenal capsular cells serve as progenitor cells for steroidogenic and stromal adrenocortical cell lineages in M. musculus. Development. 2013 Nov;140(22):4522-32
All references(260)
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
MGI 5.19
The Jackson Laboratory