NR5A1

Gene Information
 
Gene Symbol
NR5A1
 
Aliases
AD4BP, ELP, FTZ1, FTZF1, POF7, SF-1, SF1, SPGF8, SRXY3
 
Entrez Gene ID
 
Gene Name
Nuclear receptor subfamily 5, group A, member 1
 
Chromosomal Location
9q33
 
HGNC ID
 
Summary
The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. (provided by RefSeq, Jul 2008)
 
GeneCards ID
 
UniGene
 
RefSeq mRNA
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0007267 Biological process Cell-cell signaling TAS 10369247
GO:0007538 Biological process Primary sex determination TAS 9590178
GO:0030522 Biological process Intracellular receptor signaling pathway TAS 8205615
GO:0045944 Biological process Positive regulation of transcription from RNA polymerase II promoter IMP 17664281
GO:0050810 Biological process Regulation of steroid biosynthetic process TAS 10567391
Protein Information
 
Protein Name
SF-1 , steroidogenic factor 1 nuclear receptor , nuclear receptor subfamily 5, group A, member 1, Steroid hormone receptor Ad4BP , POF7 , Fushi tarazu factor homolog 1 , adrenal 4 binding protein , steroidogenic factor 1 , SF1 , ELP , fushi tarazu factor homolog 1 , steroidogenic factor-1 , SPGF8 , FTZF1 , FTZ1 , AD4BP , nuclear receptor AdBP4 , Adrenal 4-binding protein , steroid hormone receptor Ad4BP , STF-1 , SRXY3 , adrenal 4-binding protein , Nuclear receptor subfamily 5 group A member 1
 
Function
Transcriptional activator. Seems to be essential for sexual differentiation and formation of the primary steroidogenic tissues. Binds to the Ad4 site found in the promoter region of steroidogenic P450 genes such as CYP11A, CYP11B and CYP21B. Also regulates the AMH/Muellerian inhibiting substance gene as well as the AHCH and STAR genes. 5'-YCAAGGYC-3' and 5'-RRAGGTCA-3' are the consensus sequences for the recognition by NR5A1. The SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional avtivity. Binds phosphatidylcholine (By similarity). Binds phospholipids with a phosphatidylinositol (PI) headgroup, in particular PI(3,4)P2 and PI(3,4,5)P3. Activated by the phosphorylation of NR5A1 by HIPK3 leading to increased steroidogenic gene expression upon cAMP signaling pathway stimulation.
 
UniProt
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00104 Hormone_recep
PF00105 zf-C4
 
KEGG
 
OMIM
46
 
Phenotype MIM ID

Associated Diseases

Diseases References
Chronic anovulation 8671472
Infertility 8671472
Polycystic ovary syndrome (PCOS) 8671472
   
References
 
Primary:
PMID: 8671472

Immunohistochemical study of steroidogenesis and cell proliferation in polycystic ovarian syndrome.

Takayama K, Fukaya T, Sasano H, Funayama Y, Suzuki T, Takaya R, Wada Y, Yajima A
Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Aoba-ku, Sendai 980-77, Japan.
Hum Reprod. 1996 Jul;11(7):1387-92.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
LH, FSH, Testosterone 
PCOS, chronic anovulation, infertility 
 
 
Related 
5 Japanese patients, 32 controls 
The absence of ER and aromatase expression in the granulosa cells of PCO may be important in abnormal follicular development in patients with PCOS. 

Unreviewed Literature:

Show/Hide all(1)
PubMed / PMC ID
Title Type of study
22948218
Chemerin, a novel regulator of follicular steroidogenesis and its potential involvement in polycystic ovarian syndrome. 
In vitro 

 

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