OncoSignal
Live from Open Targets Platform, fetched 2026-11-11 16:35 UTC. Every row links to its source record.

NR5A1 nuclear receptor subfamily 5 group A member 1

ENSG00000136931 · protein coding · Open Targets profile

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}.

In 1 of 15 cancers, the evidence for NR5A1 comes mainly from inherited variants

Each row is a cancer, strongest overall evidence first. The two dots show how strong the inherited (germline) and tumour-mutation (somatic) evidence is; the line between them is the gap.

Inherited (germline) variantsMutations in tumours (somatic)
00.250.50.751Genetic 46,XY disorder of sex developme…Genetic 46,XY disorder of sex developmentGenetic 46,XY disorder of sex development: germline 0.80leukemialeukemiaovarian neoplasmovarian neoplasm17,20-lyase deficiency, isolated17,20-lyase deficiency, isolatedadrenal cortex carcinomaadrenal cortex carcinomaCongenital adrenal insufficiency with 4…Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiencyfunctioning gonadotropic adenomafunctioning gonadotropic adenomapituitary adenocarcinomapituitary adenocarcinomapalmoplantar keratoderma-XX sex reversa…palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndromepituitary adenoma 5, multiple typespituitary adenoma 5, multiple typespituitary adenoma 3, multiple typespituitary adenoma 3, multiple typesgangliocytomagangliocytomagrowth hormone secreting pituitary aden…growth hormone secreting pituitary adenoma 1adenomaadenomapituicytomapituicytoma

Scores run from 0 (no evidence) to 1 (strongest). A missing dot at 0 means Open Targets holds no evidence of that kind. Source: Open Targets Platform, fetched live.

Tractability

Small molecule
Structure with Ligand, High-Quality Ligand, High-Quality Pocket, Druggable Family
PROTAC
UniProt Ubiquitination, Database Ubiquitination, Small Molecule Binder

gnomAD loss of function constraint: o/e 0.14063000679016113 (upper bound 0.2775599956512451). Low values mean loss of function is poorly tolerated, a safety flag for inhibition.

Who runs trials of these drugs

No named investigators on registry trials of NR5A1's approved or late-stage drugs in the last three years.

No terminated, withdrawn or suspended trials of NR5A1's drugs are registered

All 0 drugs and clinical candidates as a table

Each drug, stage and indication links to its Open Targets record, where the trials and approvals behind it are listed. Salt forms (for example a mesylate) are listed as Open Targets records them, as separate entries.

DrugTypeHighest stageIndicationsSource records
No drugs or clinical candidates recorded.