Aliases for NR5A1 Gene
Previous HGNC Symbols for NR5A1 Gene
Previous GeneCards Identifiers for NR5A1 Gene
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 Summary for NR5A1 Gene
NR5A1 (Nuclear Receptor Subfamily 5, Group A, Member 1) is a Protein Coding gene. Diseases associated with NR5A1 include nr5a1-related 46,xy dsd and 46,xy cgd and adrenocortical insufficiency, without ovarian defect. Among its related pathways are Developmental Biology and POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and chromatin binding. An important paralog of this gene is NR6A1.
UniProtKB/Swiss-Prot for NR5A1 Gene
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.