NR5A1 (Nuclear Receptor Subfamily 5 Group A Member 1)
Key regulator of steroidogenesis and reproductive development
Gene Information Card
| Symbol | NR5A1 |
|---|---|
| Full Name | Nuclear Receptor Subfamily 5 Group A Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q33.3 |
| NCBI Gene ID | 2516 ncbi.nlm.nih.gov/gene/2516 |
| Ensembl ID | ENSG00000136931 |
| UniProt ID | Q13285 |
| OMIM ID | 184757 |
| HGNC ID | 7983 |
| Aliases | SF1, SF-1, AD4BP, FTZ1, ELP, SPGF8 |
Description
NR5A1 encodes steroidogenic factor 1 (SF-1), a nuclear receptor transcription factor that regulates genes involved in steroidogenesis, adrenal and gonadal development, and reproductive function. It binds to DNA as a monomer and is essential for the development of the adrenal glands and gonads, as well as for the expression of steroidogenic enzymes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| 46,XY disorder of sex development (DSD) | Loss-of-function mutations impair testis development, leading to gonadal dysgenesis | ClinVar, OMIM |
| Primary ovarian insufficiency (POI) | Heterozygous mutations reduce SF-1 activity, disrupting ovarian function | ClinVar, OMIM |
| Adrenal insufficiency | Biallelic loss-of-function mutations cause adrenal hypoplasia and impaired steroidogenesis | ClinVar, OMIM |
| Spermatogenic failure 8 | Mutations affect SF-1 function in Sertoli cells, leading to non-obstructive azoospermia | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adrenal gland | 28.5 | High |
| Ovary | 15.2 | Medium |
| Testis | 12.8 | Medium |
| Pituitary gland | 6.3 | Low |
| Kidney | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NCI-H295R (adrenocortical) | 35.0 | High expression |
| KGN (ovarian granulosa) | 20.5 | Medium expression |
| LNCaP (prostate) | 8.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.938G>A (p.Arg313His) | Missense | Rare | Reduced DNA binding and transactivation; associated with 46,XY DSD |
| c.437T>C (p.Leu146Pro) | Missense | Rare | Impaired transcriptional activity; linked to adrenal insufficiency |
| c.274C>T (p.Arg92Trp) | Missense | Rare | Loss of function; associated with primary ovarian insufficiency |
| c.1058_1059del (p.Glu353fs) | Frameshift | Rare | Premature truncation; causes severe gonadal dysgenesis |
Mutation functional classification
Loss of Function (LOF)
Most NR5A1 mutations are loss-of-function, reducing DNA binding or transactivation, leading to adrenal and gonadal defects.
Gain of Function (GOF)
Gain-of-function mutations are not well-documented for NR5A1; most reported variants impair function.
Dominant Negative (DN)
Some heterozygous missense mutations may exert dominant-negative effects by interfering with wild-type SF-1 activity.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • steroid hormone receptor activity | • zinc ion binding |
| • nucleus | • regulation of transcription by RNA polymerase II |
Pathways
• Steroidogenesis
• Adrenal development
• Gonadal development
• Reproductive system development
Protein Summary
Steroidogenic factor 1 (SF-1) is a 461-amino acid nuclear receptor with a zinc finger DNA-binding domain and a ligand-binding domain. It regulates key genes such as CYP11A1, CYP17A1, and STAR, essential for steroid hormone biosynthesis. SF-1 is critical for the development and function of the adrenal cortex, gonads, and pituitary gonadotropes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NR5A1 Knockout HEK293 Cell Line | EDJ-KQ4642 | Human | 2516 | Details Get a Quote |
| NR5A1 Knockout HeLa Cell Line | EDJ-KQ53273 | Human | 2516 | Details Get a Quote |
| NR5A1 Knockout A-549 Cell Line | EDJ-KQ61755 | Human | 2516 | Details Get a Quote |
| NR5A1 Knockout HCT 116 Cell Line | EDJ-KQ70239 | Human | 2516 | Details Get a Quote |
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