| Gene Symbol |
NR5A1
|
| Entrez Gene |
2516
|
| Alt Symbol |
AD4BP, ELP, FTZ1, FTZF1, POF7, SF-1, SF1, SPGF8, SRXY3
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
nuclear receptor subfamily 5, group A, member 1
|
| Other Description |
STF-1|adrenal 4 binding protein|adrenal 4-binding protein|fushi tarazu factor homolog 1|nuclear receptor AdBP4|steroid hormone receptor Ad4BP|steroidogenic factor 1|steroidogenic factor 1 nuclear receptor|steroidogenic factor-1
|
| Swissprots |
O15196 Q13285 Q5T6F5
|
| Accessions |
AAA75332 AAS48621 BAA13546 BAB18655 CCQ43292 EAW87591 Q13285 AB307718 BAH02309 AK090858 BC032501 AAH32501 EU446475 ABZ92004 HQ692856 ADZ17367 HQ709184 ADZ17391 JF432187 ADZ15404 U76388 AAB53105 XM_005251871 XP_005251928 XM_005251872 XP_005251929 XM_011518455 XP_011516757 XM_011518456 XP_011516758 NM_004959 NP_004950
|
| 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. {ECO:0000250, ECO:0000269|PubMed:17210646}.
|
| Subcellular Location |
Nucleus {ECO:0000255|PROSITE- ProRule:PRU00407, ECO:0000269|PubMed:11479297}.
|