NR5A1

Entrez 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].
UniProt Summary: Transcriptional activator. Essential for sexual differentiation and formation of the primary steroidogenic tissues (PubMed:27378692). 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 (PubMed:27378692). The SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional activity. 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|UniProtKB:P33242, ECO:0000269|PubMed:17210646, ECO:0000269|PubMed:27378692, ECO:0000269|PubMed:28459839}.

Pfam Domains GO Terms

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 0/739

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/28
bone	0/26
breast	0/33
central nervous system	0/56
cervix	0/4
colorectal	0/17
esophagus	0/13
fibroblast	0/1
gastric	0/16
kidney	0/21
liver	0/20
lung	0/75
lymphocyte	0/16
ovary	0/26
pancreas	0/24
peripheral nervous system	0/16
plasma cell	0/15
prostate	0/1
skin	0/24
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/29
uterus	0/5

Expression Distribution

Screen	Score
Deguelin 0.05μM R02 exp69	1.82
Geldanamycin 0.015 to 0.05μM on day4 R07 exp317	1.88
Lead acetate 2000μM R08 exp498 no dilution day6	2.08

zf-C4
Hormone recep

primary sex determination
negative regulation of female gonad development
negative regulation of gonad development
luteinization
positive regulation of male gonad development
response to gonadotropin-releasing hormone
regulation of male gonad development
positive regulation of gonad development
regulation of female gonad development
male sex determination
calcineurin-mediated signaling
regulation of gonad development
maintenance of protein location in nucleus
sex determination
adrenal gland development
multicellular organism aging
maintenance of protein localization in organelle
ovulation cycle process
nuclear receptor activity
steroid hormone receptor activity
negative regulation of reproductive process
ovulation cycle
RNA polymerase II transcription factor complex
maintenance of protein location in cell
transcription regulatory region sequence-specific DNA binding
positive regulation of reproductive process
female gonad development
regulation of steroid biosynthetic process
development of primary female sexual characteristics
maintenance of location in cell
RNA polymerase II distal enhancer sequence-specific DNA binding
phospholipid binding
maintenance of protein location
female sex differentiation
regulation of steroid metabolic process
steroid hormone mediated signaling pathway
endocrine system development
male gonad development
development of primary male sexual characteristics
calcium-mediated signaling