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

Chr2:38692656-38714541 bp, - strand From VEGA annotation of GRCm38   21886 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 dog; 1 chicken

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; chr9:127243515-127269699 (-)  GRCh37.p10
Disease Associations		(4) Diseases Associated with Human NR5A1

Alleles and phenotypes

All alleles(8) : Targeted(8)
 

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

All GO classifications: (45 annotations)

Process	adrenal gland development, cell differentiation, ...
Component	nucleus
Function	chromatin binding, DNA binding, ...

External Resources: FuncBase

Expression

Literature Summary: (135 records)
Data Summary: Results (343)    Tissues (209)    Images (58)
Theiler Stages: 2, 3, 6, 14, 15, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	31
RNA in situ	200
RT-PCR	110
RNase protection	2

cDNA source data(19)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(39) Genomic(3) cDNA(22) Primer pair(9) Other(5)
Microarray probesets(7)

Other database links

VEGA Gene Model	OTTMUSG00000012867 (Evidence)
Ensembl Gene Model	ENSMUSG00000026751 (Evidence)
Entrez Gene	26423 (Evidence)
UniGene	31387
DFCI	TC1583024, TC1710050
DoTS	DT.101300337, DT.40158288, DT.91327895, DT.97360515
NIA Mouse Gene Index	U022569
PDB	1YMT, 3F7D, 1YP0, 2FF0
Consensus CDS Project	CCDS16011.1
International Mouse Knockout Project Status	Nr5a1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000012867	VEGA Gene Model | MGI Sequence Detail	21886	C57BL/6J
transcript	OTTMUST00000030854	VEGA | MGI Sequence Detail	2994	Not Applicable
polypeptide	OTTMUSP00000013824	VEGA | MGI Sequence Detail	462	Not Applicable

All sequences(40) RefSeq(2) UniProt(4)

Polymorphisms

All PCR and RFLP(2) : PCR(1) RFLP(1) SNPs(175 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:193956 Cheung CC, et al., Genetic labeling of steroidogenic factor-1 (SF-1) neurons in mice reveals ventromedial nucleus of the hypothalamus (VMH) circuitry beginning at neurogenesis and development of a separate non-SF-1 neuronal cluster in the ventrolateral VMH. J Comp Neurol. 2013 Apr 15;521(6):1268-88
All references(246)

Other accession IDs

MGD-MRK-9890, MGI:95591