Affinage

NR5A1

Steroidogenic factor 1 · UniProt Q13285

Round 2 corrected
Length
461 aa
Mass
51.6 kDa
Annotated
2026-04-29
130 papers in source corpus 46 papers cited in narrative 46 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

NR5A1 (SF-1/Ad4BP) is an orphan nuclear receptor that functions as a master transcriptional regulator of adrenal and gonadal organogenesis, steroidogenesis, hypothalamic neuronal differentiation, spleen development, and Sertoli cell identity (PMID:7479914, PMID:9183568, PMID:31710289, PMID:24905461). It binds phosphatidylinositol lipids (PIP2/PIP3) in its ligand-binding pocket to stabilize the coactivator-binding surface and recruits tissue-specific cofactors including SOX9, WT1, GATA-4, Ptx1, Ubc9, and PIAS1 to activate steroidogenic enzyme genes (CYP11A1, CYP11B1, CYP17A1, CYP19A1), cholesterol transport genes (StAR, Hummr), and developmental regulators (AMH, TLX1) (PMID:25288771, PMID:9774680, PMID:9590178, PMID:10446911, PMID:30271905). Its transcriptional output is tuned by MAPK-dependent phosphorylation at Ser-203, SUMOylation at Lys119 (selectively reducing noncanonical DNA binding) and Lys194 (inhibiting CDK7-mediated Ser-203 phosphorylation), and SCF-mediated ubiquitin-proteasomal degradation (PMID:10230405, PMID:18838537, PMID:19015234, PMID:17709382). Heterozygous or homozygous loss-of-function NR5A1 mutations cause 46,XY sex reversal, adrenal insufficiency, and male infertility in humans, and SF-1 additionally localizes to centrosomes where it non-transcriptionally suppresses DNA-PK-driven centriole splitting to maintain genomic stability (PMID:10369247, PMID:11932325, PMID:20887963, PMID:21566663, PMID:25421435).

Mechanistic history

Synthesis pass · year-by-year structured walk · 14 steps
  1. 1993 High

    Identification of Ad4BP/SF-1 as a steroidogenic tissue-specific transcription factor containing a zinc-finger DNA-binding domain and a ligand-binding domain established that a single nuclear receptor directly activated steroidogenic P-450 gene promoters through Ad4 cis-elements.

    Evidence Protein purification from bovine adrenal cortex, cDNA cloning, reporter assays in CV-1 cells

    PMID:8463279

    Open questions at the time
    • No ligand identified
    • Upstream regulators unknown
    • In vivo requirement not yet demonstrated
  2. 1994 High

    Demonstration that SF-1 directly regulated the MIS/AMH gene and showed sexually dimorphic expression in fetal gonads established it as a key regulator of sex-specific gene activation during gonadal differentiation, beyond steroidogenic enzymes alone.

    Evidence Reporter assays in primary Sertoli cells with domain deletions; immunohistochemistry and RT-PCR across developmental stages in rat

    PMID:7607070 PMID:8205615

    Open questions at the time
    • Identity of the Sertoli cell-specific cofactor or ligand required for LBD-dependent activation unknown
    • Mechanism of sex-dimorphic expression regulation unknown
  3. 1995 High

    SF-1 knockout mice lacking adrenal glands and gonads proved that SF-1 is indispensable for organogenesis of the primary steroidogenic organs, resolving whether it was merely a modulator or an essential developmental factor.

    Evidence Gene targeting/knockout mice with complete adrenal and gonadal agenesis, neonatal lethality

    PMID:7479914

    Open questions at the time
    • Whether haploinsufficiency causes disease in humans unknown
    • Mechanism of organ agenesis (apoptosis vs. specification failure) not resolved
  4. 1998 High

    Identification of direct physical interactions between SF-1 and tissue-specific transcription factors SOX9, WT1, and DAX-1 revealed how SF-1 achieves target gene selectivity through combinatorial cofactor recruitment, with DAX-1 functioning as a dedicated antagonist.

    Evidence Co-immunoprecipitation, GST pulldown, and synergy/antagonism in reporter assays on AMH and MIS promoters

    PMID:9590178 PMID:9774680

    Open questions at the time
    • Structural basis of cofactor selectivity unknown
    • Whether these interactions are regulated by post-translational modifications unknown
  5. 1999 High

    Discovery that MAPK-dependent phosphorylation of Ser-203 is required for maximal SF-1 transcriptional activity and cofactor recruitment established a direct signaling mechanism coupling extracellular stimuli to steroidogenic gene output.

    Evidence Phospho-specific antibodies, S203A mutagenesis, kinase assays, cofactor co-IP, reporter assays

    PMID:10230405

    Open questions at the time
    • Whether other kinases target Ser-203 in vivo unknown
    • Crosstalk with SUMOylation not yet explored
  6. 1999 High

    Human heterozygous NR5A1 mutations (G35E) causing XY sex reversal and adrenal failure proved that SF-1 haploinsufficiency is pathogenic, establishing NR5A1 as a disease gene for disorders of sex development and adrenal insufficiency.

    Evidence Patient sequencing with functional characterization of mutant DNA binding and transactivation

    PMID:10369247

    Open questions at the time
    • Genotype-phenotype correlation across different domains incomplete
    • Mechanism of variable penetrance unknown
  7. 2000 High

    Demonstration that SF-1 null mice lose VMH neuronal architecture and marker expression established a CNS developmental role for SF-1 distinct from its peripheral steroidogenic function, expanding its scope to hypothalamic neuron specification.

    Evidence SF-1 knockout mouse analysis with immunohistochemistry for multiple neuronal markers

    PMID:10880989

    Open questions at the time
    • Direct transcriptional targets in VMH neurons unknown
    • Whether SF-1 acts cell-autonomously in neurons not definitively established
  8. 2005 High

    Crystal structures revealing phosphatidylinositol lipids occupying the SF-1 ligand-binding pocket resolved the long-standing question of whether this 'orphan' receptor had a ligand and identified phospholipids as endogenous regulators of its activity.

    Evidence X-ray crystallography of SF-1 LBD with biochemical binding and reporter assays

    PMID:15707893

    Open questions at the time
    • Whether PIP occupancy is dynamically regulated in vivo unknown
    • Relative contribution of different PIP species to SF-1 activity in specific tissues unresolved
  9. 2007 High

    Convergent discoveries of upstream regulatory mechanisms—Cited2/Wt1 dosage control of Nr5a1 expression, CpG island methylation of the SF-1 promoter, and SCF-mediated proteasomal degradation—revealed that SF-1 protein levels are tightly controlled at transcriptional, epigenetic, and post-translational levels, explaining dosage sensitivity in disease.

    Evidence Double-heterozygous epistasis in mice (Cited2/Sf-1); bisulfite sequencing and MBD2 ChIP in endometrial cells; siRNA knockdown of SKP1A preventing SF-1 degradation

    PMID:17519303 PMID:17537799 PMID:17709382

    Open questions at the time
    • How these three regulatory layers are integrated in vivo unknown
    • Whether SCF targeting is tissue-specific not determined
  10. 2008 High

    Site-specific SUMOylation at Lys119 and Lys194 was shown to selectively modulate SF-1 DNA-binding specificity and CDK7-dependent Ser-203 phosphorylation respectively, establishing a post-translational modification crosstalk network that tunes target gene selectivity.

    Evidence In vitro SUMOylation, EMSA, ChIP, NMR, CDK7 co-IP, mutagenesis (K119R, K194R)

    PMID:18838537 PMID:19015234

    Open questions at the time
    • In vivo dynamics of SUMOylation/deSUMOylation cycles not characterized
    • Identity of the SUMO protease(s) acting on SF-1 unknown
  11. 2011 High

    Discovery of SF-1 localization to centrosomes and a non-transcriptional function in suppressing centriole over-duplication—rescued by the transcription-dead G35E mutant—revealed an unexpected moonlighting role in mitotic fidelity.

    Evidence Immunofluorescence co-localization, shRNA knockdown causing centrosome amplification, rescue with DNA-binding-defective mutant

    PMID:21566663

    Open questions at the time
    • Centrosome-targeting mechanism not fully defined
    • Whether centrosomal function contributes to disease phenotypes unknown
  12. 2014 High

    High-resolution structures of SF-1 LBD bound to PIP2/PIP3 revealed that PIP3 is the highest-affinity ligand stabilizing the coactivator groove, and that disease-associated mutations map to this surface, mechanistically linking lipid sensing to cofactor recruitment and pathogenesis.

    Evidence X-ray crystallography, surface plasmon resonance, coactivator peptide recruitment assays

    PMID:25288771

    Open questions at the time
    • Whether PIP3 binding is regulated by PI3K signaling in steroidogenic cells not shown
    • No structure of full-length SF-1 with cofactors available
  13. 2014 High

    Mechanistic dissection of the centrosomal pathway showed SF-1 suppresses DNA-PK activation at centrosomes, preventing GSK3β phosphorylation and β-catenin accumulation that drive centriole splitting, defining a specific non-transcriptional signaling cascade.

    Evidence Co-IP, DNA-PK inhibitor rescue, shRNA, domain-deletion constructs

    PMID:25421435

    Open questions at the time
    • Direct molecular target of SF-1 at the centrosome (how it inhibits DNA-PK) not identified
    • Relevance to adrenocortical tumorigenesis not tested
  14. 2019 High

    NR5A1 with GATA4 was shown to be sufficient to reprogram human fibroblasts into functional Sertoli-like cells, establishing NR5A1 as a master identity factor for the Sertoli lineage and demonstrating its potential in regenerative medicine.

    Evidence Transcription factor-mediated reprogramming, transcriptome profiling, spermatogonia co-culture, immune protection assays

    PMID:31710289

    Open questions at the time
    • Whether reprogrammed cells maintain long-term stability unknown
    • Chromatin remodeling mechanisms during reprogramming not defined

Open questions

Synthesis pass · forward-looking unresolved questions
  • Key unresolved questions include how PIP3 occupancy is dynamically regulated in vivo to modulate SF-1 activity, the structural basis of full-length SF-1 interaction with its diverse cofactors, and the physiological significance of centrosomal SF-1 in adrenocortical tumorigenesis and genomic stability in vivo.
  • No in vivo evidence linking PI3K signaling to SF-1 PIP3 occupancy
  • No full-length SF-1 structure with cofactor complex
  • Centrosomal function not tested in animal disease models

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140110 transcription regulator activity 12 GO:0003677 DNA binding 5 GO:0008289 lipid binding 3
Localization
GO:0005634 nucleus 6 GO:0005815 microtubule organizing center 2
Pathway
R-HSA-74160 Gene expression (Transcription) 12 R-HSA-1266738 Developmental Biology 8 R-HSA-1430728 Metabolism 4 R-HSA-162582 Signal Transduction 3 R-HSA-392499 Metabolism of proteins 3
Partners
CDK7GATA4NR0B1PIAS1PITX1SOX9UBE2IWT1

Evidence

Reading pass · 46 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1993 Ad4BP (NR5A1) was identified as a steroidogenic tissue-specific transcription factor containing a zinc finger DNA-binding domain and a ligand-binding/dimerization domain, classifying it as a member of the steroid hormone receptor superfamily. It was purified from bovine adrenal cortex and shown to specifically bind Ad4 cis-acting elements in steroidogenic P-450 gene promoters (CYP11B) and to activate transcription of Ad4-containing reporter genes when transfected into CV-1 cells. Protein purification, cDNA cloning, sequence analysis, transfection/reporter assay The Journal of biological chemistry High 8463279
1994 NR5A1 (Ad4BP/SF-1) regulates the Müllerian inhibiting substance (MIS) gene by binding to a conserved upstream regulatory element in primary Sertoli cells. In heterologous HeLa cells, MIS activation by SF-1 requires removal of the SF-1 ligand-binding domain, implicating a Sertoli cell-specific ligand or cofactor in regulating SF-1 transcriptional activity. Reporter gene assays in primary Sertoli cells and heterologous cells, deletion mutagenesis Cell High 8205615
1994 NR5A1 (Ad4BP) activates transcription through distal promoter elements of human CYP11A and bovine CYP11B genes containing Ad4 binding sites, in a steroidogenic cell-specific and cAMP-stimulated manner; the two distal promoters showed different requirements for basal promoter interactions. Transfection with CAT reporter constructs, promoter deletion analysis, cAMP stimulation Journal of biochemistry Medium 7798178
1994 Ad4BP/SF-1 exhibits sexually dimorphic expression in fetal rat gonads: high levels in fetal and prepubertal testes (somatic cells including Sertoli and Leydig cells) and low levels in fetal ovaries, with expression increasing in ovaries postnatally. Expression in gonads correlates temporally with MIS and steroidogenic P450 gene expression, suggesting a direct regulatory role in sex-specific gene activation during gonadal differentiation. Immunohistochemistry, RT-PCR, developmental staging across prenatal and postnatal rat tissues Development (Cambridge, England) High 7607070
1995 Mouse ELP gene (encoding Ad4BP/SF-1) produces four isoforms (ELP1, ELP2, ELP3, Ad4BP/SF-1) through alternative promoter usage and differential splicing. ELP1 (lacking the ligand-binding domain region III) functions as a transcriptional repressor, while isoforms retaining both DNA-binding and ligand-binding domains (ELP2, ELP3, Ad4BP/SF-1) function as transactivators. cDNA library screening, genomic structure analysis, RT-PCR, reporter gene assays Journal of biochemistry Medium 8543574
1995 NR5A1 (SF-1) knockout mice completely lack adrenal glands and gonads (agenesis), have persistent Müllerian structures in genetic males, and die shortly after birth with diminished corticosterone. P450scc expression in the placenta is unaffected by SF-1 absence, indicating tissue-context-dependent roles. ELP transcripts could not be detected in any mouse tissue, confirming the phenotype reflects absent SF-1. Gene targeting/knockout mice, serum hormone measurements, RT-PCR, phenotypic analysis Proceedings of the National Academy of Sciences of the United States of America High 7479914
1996 Ad4BP/SF-1 gene is controlled by an autoregulatory mechanism in which Ad4BP/SF-1 itself functions as the dominant transcription factor driving its own expression (autoregulation of the mammalian Ftz-F1 gene). SF-1 is also expressed in pituitary gonadotrophs and ventromedial hypothalamic nucleus in addition to steroidogenic endocrine tissues. Promoter analysis, transfection assays, in situ hybridization, immunohistochemistry FASEB journal Medium 9002548
1997 NR5A1 (SF-1) is an essential transcriptional regulator of steroidogenic enzyme genes (CYP11A1, CYP11B1, CYP17A1, CYP21A2, CYP19A1) and other endocrine genes through direct binding to Ad4/SF-1 response elements; SF-1 functions at all levels of the hypothalamic-pituitary-adrenal and gonadal axes. Review integrating reporter assays, knockout mouse phenotypes, promoter binding studies from multiple laboratories Endocrine reviews High 9183568
1998 SF-1 (NR5A1) directly interacts with SOX9 via its C-terminal region; SOX9 binds the AMH promoter through a canonical SOX site and cooperates synergistically with SF-1 to activate AMH gene transcription in Sertoli cells, with the interaction demonstrated by in vitro and in vivo protein-binding assays. Co-immunoprecipitation, GST pulldown, co-transfection reporter assays, EMSA Molecular and cellular biology High 9774680
1998 WT1 (-KTS isoforms) associates directly with SF-1 and synergizes with it to activate MIS transcription; DAX-1 (NR0B1) antagonizes this WT1/SF-1 synergy through a direct interaction with SF-1. WT1 missense mutations associated with Denys-Drash syndrome (male pseudohermaphroditism) fail to synergize with SF-1. Co-immunoprecipitation, GST pulldown, co-transfection reporter assays, dominant-negative experiments Cell High 9590178
1999 Ptx1 (Pitx1) directly interacts with the N-terminal half of SF-1 through its C-terminus, enhancing SF-1 transcriptional activity to levels equivalent to a constitutively active SF-1 mutant. This interaction occurs on SF-1 target gene promoters (LHβ and MIS) and may mimic the functional effect of a ligand binding to SF-1's ligand-binding domain, providing a developmental mechanism to bypass SF-1 ligand dependence. Co-immunoprecipitation, GST pulldown, co-transfection reporter assays, domain mapping The EMBO journal High 10369682
1999 A heterozygous loss-of-function mutation in NR5A1 (G35E in the P-box of the DNA-binding domain) causes XY sex reversal and adrenal failure in humans, establishing that haploinsufficiency of SF-1 is sufficient to cause severe endocrine phenotypes in humans. Sequencing, in vitro functional assay of mutant protein DNA binding and transactivation Nature genetics High 10369247
1999 GATA-4 directly interacts with SF-1 (NR5A1) through its zinc finger region to synergistically activate MIS promoter transcription. This synergy does not require GATA-4 DNA binding and is also observed with other GATA family members on multiple SF-1 target genes, revealing a protein-protein interaction mechanism for SF-1 co-regulation. GST pulldown, co-immunoprecipitation, co-transfection reporter assays, domain mutagenesis Molecular endocrinology (Baltimore, Md.) High 10446911
1999 SF-1 transcriptional activity depends on phosphorylation of serine-203 (Ser-203) in the AF-1 activation domain by the MAPK signaling pathway. This phosphorylation is required for maximal SF-1-mediated transcription and for interaction with general nuclear receptor cofactors, coupling extracellular signals to steroid hormone synthesis. Phospho-specific antibodies, mutagenesis, kinase assays, co-immunoprecipitation with cofactors, reporter gene assays Molecular cell High 10230405
2000 Loss of SF-1 in knockout mice profoundly disrupts the cellular architecture of the ventromedial hypothalamic nucleus (VMH) from early stages, preventing normal exclusion of GABA/GAD67-immunoreactive cells and causing aberrant distribution of NPY, ERα, and galanin-expressing cells, demonstrating that SF-1 plays a direct role in determining the distribution and phenotypes of hypothalamic neurons. SF-1 knockout mouse analysis, immunohistochemistry for multiple neuronal markers at multiple developmental stages The Journal of comparative neurology High 10880989
2000 ACTH resistance in Y1 adrenocortical mutant cells results from impaired SF-1 (NR5A1) transcriptional activation function rather than altered DNA binding or altered cofactor (WT1, CBP/p300, SRC-1) levels; adding a VP16 activation domain to SF-1 restores transcriptional activity, and multiple SF-1 target genes (MC2R, CYP11B1, StAR) show differential SF-1 dependence. Reporter gene assays, EMSA, Western blot, 5'-deletion analysis, VP16 fusion rescue Molecular endocrinology (Baltimore, Md.) Medium 10770490
2000 A homozygous NR5A1 mutation (R92Q) in the A-box secondary DNA-binding domain causes adrenal failure and 46,XY sex reversal only in homozygous state; heterozygous carriers are phenotypically normal. This contrasts with the P-box G35E mutation causing haploinsufficiency, demonstrating dose-dependent sensitivity of SF-1-dependent developmental pathways to gene dosage and A-box vs. P-box functional importance. Sequencing, functional assays of mutant proteins (DNA binding, transactivation) The Journal of clinical endocrinology and metabolism High 11932325
2000 A heterozygous R255L mutation in the SF-1 ligand-binding domain causes adrenal insufficiency in a 46,XX female without apparent ovarian defects. The R255L mutant protein cannot bind canonical DNA sequences and is transcriptionally inactive without dominant-negative activity, establishing that NR5A1 DNA binding is essential for adrenal but not ovarian development. Sequencing, EMSA (DNA binding), reporter gene transactivation assay, dominant-negative testing American journal of human genetics High 11038323
2003 SF-1 is required for terminal differentiation of VMN neurons: SF-1 null mice retain VMN precursors but show misexpression of NKX2-1, absence of BDNF neurotrophin expression, and complete loss of axonal projections to the bed nucleus of stria terminalis and amygdala, demonstrating a role distinct from apoptosis-driven organ agenesis in peripheral endocrine tissues. SF-1 knockout mouse, immunohistochemistry, tract-tracing, marker expression analysis Molecular and cellular neurosciences High 12727442
2003 The G146A variation in the hinge region of human Ad4BP/SF-1 shows slightly diminished transactivation on CYP11A and CYP19 promoters but does not affect protein expression, stability, dominant-negative activity, co-regulator interaction pattern, or subnuclear distribution, classifying it as a nonsynonymous SNP with possible clinical relevance in adrenal disease populations. Reporter gene assays, Western blot, subnuclear localization, co-regulator interaction assays Biochemical and biophysical research communications Medium 14623279
2005 Phosphatidylinositol lipids (phosphatidylinositol 4,5-bisphosphate and related species) occupy the ligand-binding pocket of SF-1 and LRH-1 as identified by crystal structures; ligand binding is required for maximal receptor activity. Evolutionary analysis shows ligand binding is the ancestral state of NR5A receptors. X-ray crystallography, biochemical binding assays, functional reporter assays Cell High 15707893
2005 Mouse Polycomb group protein M33 directly binds the Ad4BP/SF-1 (Nr5a1) gene locus (demonstrated by chromatin immunoprecipitation) and is required for normal Ad4BP/SF-1 expression. M33 knockout mice show significantly reduced Ad4BP/SF-1 protein levels and display adrenal and splenic defects phenotypically similar to Ad4BP/SF-1 knockout mice, establishing M33 as a direct upstream epigenetic regulator of Nr5a1. Chromatin immunoprecipitation, Western blot, immunohistochemistry, RT-PCR, knockout mouse phenotypic analysis Blood High 15899914
2007 Cited2 cooperates with Wt1 as a co-factor to stimulate SF-1 (Nr5a1) expression in the adrenogonadal primordium above the threshold required for adrenal cortex specification. Genetic and molecular evidence shows that Cited2 interacts with Wt1 to directly regulate Nr5a1 levels; adrenal defects in Sf-1/Cited2 double heterozygous embryos confirm pathway co-linearity. Genetic epistasis (double heterozygous mice), molecular interaction assays, promoter analysis, developmental staging Development (Cambridge, England) High 17537799
2007 Increased SF-1 (NR5A1) dosage by itself drives adrenocortical cell proliferation through concerted effects on the cell cycle and apoptosis in a transcriptional activity-dependent manner. In mice, increased Sf-1 dosage produces adrenocortical hyperplasia and gonadal marker-expressing tumors from the subcapsular region. SF-1 increases its own binding to the FATE1 promoter and modulates cofactor recruitment in a dosage-dependent manner. Sf-1 transgenic mice, cell proliferation assays, gene expression profiling, ChIP, reporter assays Molecular endocrinology (Baltimore, Md.) High 17761949
2007 HDAC inhibitors (trichostatin A, valproic acid) suppress steroidogenesis by promoting SCF (Skp1/Cul1/F-box) E3 ubiquitin ligase-mediated ubiquitination and proteasomal degradation of SF-1, mediated through increased expression of SKP1A (SCF subunit). SKP1A knockdown by siRNA prevents SF-1 degradation, and SF-1 overexpression rescues steroidogenesis despite HDAC inhibition. siRNA knockdown, overexpression rescue, ubiquitination assays, Western blot, steroid measurement Molecular and cellular biology High 17709382
2007 SF-1 promoter activity is regulated by DNA methylation status of a CpG island flanking the SF-1 promoter and exon I region. In endometriotic stromal cells, hypomethylation of this CpG island drives aberrant SF-1 expression; methyl-CpG-binding domain protein 2 (MBD2) binds the methylated SF-1 promoter in normal endometrial cells. Demethylation by 5-aza-2'-deoxycytidine induces SF-1 expression up to 55-fold in endometrial cells. Bisulfite sequencing, 5-aza-2'-deoxycytidine treatment, luciferase reporter assays, ChIP for MBD2 The Journal of clinical endocrinology and metabolism High 17519303
2008 Crystal structure of the SF-1 ligand-binding domain (LBD) bound to exchanged phosphatidylcholine shows the phospholipid in the hormone pocket, with two surface loops (L2-3 and L11-12) surrounding the pocket entrance varying between structures depending on bound ligand. Mutations in loop L11-12 impair phospholipid exchange and diminish transcriptional activity; the disease-associated L2-3 mutation R255L similarly impairs lipid binding and SF-1 activity. X-ray crystallography, phospholipid exchange assay, reporter gene transactivation assay, site-directed mutagenesis Molecular endocrinology (Baltimore, Md.) High 18988706
2008 SUMOylation of SF-1 at Lys119 (in the DNA-binding domain) markedly and selectively reduces SF-1 binding to noncanonical 'SUMO-sensitive' target gene promoters (e.g., inhibin-α), while leaving canonical target binding less affected. DNA binding and Lys119 SUMOylation appear to be mutually exclusive. SUMOylation at Lys194 (in the LBD) modestly reduces Ser203 phosphorylation and has more limited effects on SF-1 conformation and coregulator recruitment. In vitro SUMOylation, EMSA, ChIP, mutagenesis (K119R, K194R), reporter gene assays, NMR Molecular and cellular biology High 18838537
2008 SF-1 SUMOylation at K194 inhibits SF-1 transcriptional activity by reducing CDK7-mediated phosphorylation at Ser203. CDK7 preferentially binds the SUMOylation-deficient (K194R) form of SF-1; CDK7 inhibition reduces Ser203 phosphorylation. Loss of SUMOylation increases oscillatory StAR promoter occupancy and upregulates multiple steroidogenic enzyme genes. Co-immunoprecipitation (CDK7-SF-1), CDK7 inhibitor experiments, ChIP, mutagenesis, reporter gene assays Molecular and cellular biology High 19015234
2008 PGE2 promotes coordinate binding of SF-1 to the promoters of StAR and aromatase genes in endometriotic cells, stimulating the full steroidogenic pathway from cholesterol to estradiol. COUP-TFII and WT1 suppress this pathway in normal endometrium by binding the same promoters and opposing SF-1 activity. ChIP for SF-1, COUP-TFII and WT1 at endogenous gene promoters; reporter assays; steroid measurements The Journal of clinical endocrinology and metabolism High 19001523
2009 Heterozygous missense mutations in NR5A1 found in men with severe spermatogenic failure impair NR5A1 transactivational activity as shown by functional studies, establishing NR5A1 mutations as a cause of male infertility (~4% of unexplained severe spermatogenic failure). Sequencing, luciferase reporter transactivation assays of mutant proteins American journal of human genetics Medium 20887963
2011 SF-1 (NR5A1) localizes to centrosomes in addition to the nucleus. SF-1 depletion by shRNA causes centrosome over-duplication, aberrant mitosis, and genomic instability, reducing cell numbers. A centrosome localization signal was identified in SF-1; both wild-type SF-1 and transcription-defective SF-1-G35E rescue centrosome amplification, indicating a non-genomic/non-transcriptional centrosomal function of SF-1. Immunofluorescence/co-localization, shRNA knockdown, centrosome counting, cell cycle analysis, mutagenesis Cell death and differentiation High 21566663
2011 Ubc9 (SUMO E2 conjugase) and PIAS1 (SUMO E3 ligase) both physically interact with SF-1 and paradoxically function as coactivators—independent of their sumoylation enzymatic activity—for SF-1-mediated transcription of CYP17, CYP11A1, and CYP11B1 but not CYP11B2 in adrenocortical cells. SF-1, Ubc9, and PIAS1 are co-recruited to the endogenous CYP17 promoter. Co-immunoprecipitation, siRNA knockdown, ChIP, reporter gene assays, sumoylation-inactive mutants Endocrinology High 21467194
2014 Crystal structures of human NR5A1 (SF-1) LBD bound to PIP2 and PIP3 reveal that phosphoinositide hydrophobic tails are sequestered in the hormone pocket while the head groups are fully solvent-exposed and organize the receptor architecture at the pocket entrance. PIP3 (highest-affinity ligand) stabilizes the coactivator binding groove and increases coactivator peptide recruitment. The PIP3-stabilized surface on SF-1 coincides with the predicted DAX-1 corepressor binding site and harbors disease-associated missense mutations. X-ray crystallography, surface plasmon resonance/binding affinity assays, coactivator peptide recruitment assays Proceedings of the National Academy of Sciences of the United States of America High 25288771
2014 NR5A1 (SF-1) is required for human spleen development via transactivation of TLX1, a transcription factor essential for murine spleen organogenesis. A recessive SF-1 mutation (R103Q) reduces SF-1 transactivation of the TLX1 promoter and impairs steroidogenic gene activation, but does not affect SF-1/SRY co-activation of the SOX9 testis-development enhancer (TESCO), revealing functional separation of SF-1 activities. Human genetics, reporter gene assays for TLX1, steroidogenic gene, and TESCO promoters; functional mutation analysis The Journal of clinical investigation High 24905461
2014 Prenatal nicotine exposure suppresses SF-1 expression and its transcriptional activity in fetal adrenal glands by decreasing histone H3K9 and H3K14 acetylation at the SF-1 promoter region via enhanced HDAC2 expression, reducing SF-1 binding to target gene promoters (e.g., StAR). TSA treatment reverses nicotine-mediated SF-1 suppression. ChIP for histone acetylation marks, bisulfite sequencing, co-IP for SF-1/StAR interaction, HDAC inhibitor rescue Toxicology and applied pharmacology Medium 24709674
2014 NR5A1 prevents centriole splitting by inhibiting centrosomal DNA-PK activation. SF-1 depletion leads to aberrant GSK3β phosphorylation during G1 phase and β-catenin accumulation specifically at the centrosome (not the nucleus). DNA-PK inhibitor vanillin reverses these phenotypes. SF-1 interacts with cyclin A in the centrosome but not in the nucleus, and both full-length and DNA-binding-domain-deleted SF-1 rescue centriole splitting. Immunofluorescence, co-immunoprecipitation, shRNA depletion, DNA-PK inhibitor treatment, centriole counting Cell communication and signaling High 25421435
2016 SF-1 deficiency in Leydig cells causes lipid accumulation through transcriptional suppression of STAR and CYP11A1, both required for mitochondrial cholesterol processing. Knockdown of either StAR or CYP11A1 individually induces lipid accumulation, and combined knockdown has an additive effect, establishing that SF-1-driven StAR/CYP11A1 expression is required to prevent cholesterol buildup. Heterozygous SF-1 knockout mice, Leydig cell line siRNA knockdown, lipid staining, steroid measurements, immunoblotting Endocrine High 27455990
2016 In Nile tilapia, CRISPR/Cas9-mediated sf-1 (nr5a1) knockout results in gonadal dysgenesis, reduced steroidogenic cells, and haploinsufficiency (sf-1+/-) causes female-to-male sex reversal in XX fish. SF-1 deficiency decreased estradiol and CYP19A1/FOXL2 expression in XX fish, while 17α-methyltestosterone treatment rescued the XY gonadal phenotype, establishing SF-1's conserved role in teleost gonadal sex determination and steroidogenesis. CRISPR/Cas9 knockout, hormone rescue, immunohistochemistry, gene expression analysis Endocrinology High 27046435
2018 Ad4BP/SF-1 directly regulates cholesterogenic genes in steroidogenic cells (identified by ChIP-seq) and controls Hummr, a candidate mediator of cholesterol transport from endoplasmic reticulum to mitochondria, thereby coordinating cholesterol synthesis with steroidogenesis. This extends SF-1's role from steroidogenic enzyme gene regulation to the broader metabolic supply of the steroid substrate. ChIP-seq, gene expression profiling, functional validation of target genes Communications biology Medium 30271905
2018 Insulin regulates adrenal steroidogenesis by increasing SF-1 protein and mRNA expression through inhibition of FoxO1; overexpression of FoxO1 suppresses SF-1 and its steroidogenic target genes, and hyperactivation of insulin signaling in mice increases adrenal SF-1 expression along with elevated aldosterone and corticosterone levels. In vitro insulin treatment, streptozotocin mouse model, FoxO1 overexpression, Western blot, hormone measurement Scientific reports Medium 29567944
2019 NR5A1 together with GATA4 is sufficient to reprogram human fibroblasts into induced Sertoli-like cells (hiSCs). These hiSCs exhibit transcriptome profiles and functional properties (support of spermatogonia viability, suppression of T-lymphocyte proliferation, xenograft immune protection) similar to primary human Sertoli cells, demonstrating that NR5A1 is a master reprogramming factor for Sertoli cell identity. Transcription factor-mediated cellular reprogramming, transcriptome profiling, functional co-culture assays, immune protection assays eLife High 31710289
2019 Sertoli cell-specific deletion of Nr5a1 at E14.5 (post-sex determination) leads to Sertoli cell apoptosis beginning at E15, associated with reduced MDM2 protein levels and elevated TP53, suggesting NR5A1 directly regulates MDM2 expression to suppress the TP53 apoptotic pathway. Loss of Sertoli and germ cells disrupts seminiferous cords by E18.5. Amh-Cre conditional knockout, TUNEL apoptosis assay, Western blot for MDM2/TP53, histological analysis Scientific reports Medium 30872705
2021 In zebrafish, nr5a1a and nr5a1b co-orthologs partition ancestral NR5A1 functions: nr5a1a is required for interrenal (adrenal) development and Leydig cell formation, while nr5a1b is required for gonad maintenance. Single-cell RNA-seq identified nr5a1a-expressing steroidogenic precursor cells co-expressing Cxcl12a at 1 dpf, mirroring the mammalian adrenal-gonadal primordium. CRISPR/Cas9 knockout of both ohnologs, single-cell RNA-seq, RNA-seq, immunohistochemistry, hormone measurements Genetics High 33724412
2022 In the dragon lizard Pogona vitticeps, sex-specific alternative splicing of nr5a1 alleles on W and Z sex chromosomes determines sex: ZZ males produce two functional NR5A1 isoforms, while ZW females produce 16 isoforms mostly containing premature stop codons from the W-borne allele that likely generate truncated proteins with intact DNA-binding domains acting as competitive inhibitors of full-length NR5A1, thereby suppressing testis determination. Long-read RNA sequencing, isoform characterization, sex chromosome allele-specific expression analysis Proceedings of the National Academy of Sciences of the United States of America Medium 35074916
2003 Tpit (T-box transcription factor) trans-represses SF-1-mediated gonadotroph differentiation; inactivation of Tpit in the pituitary intermediate lobe results in loss of POMC-expressing cells replaced by gonadotrophs, and gain-of-function Tpit transgenes suppress gonadotroph development, establishing antagonism between Tpit and SF-1 in pituitary lineage determination. Tpit knockout mice, Tpit transgenic mice, immunohistochemistry, reporter gene assays Genes & development Medium 12651892

Source papers

Stage 0 corpus · 130 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America 1479 12477932
2009 A census of human transcription factors: function, expression and evolution. Nature reviews. Genetics 1191 19274049
2014 A proteome-scale map of the human interactome network. Cell 977 25416956
2017 Impact of cytosine methylation on DNA binding specificities of human transcription factors. Science (New York, N.Y.) 934 28473536
2020 A reference map of the human binary protein interactome. Nature 849 32296183
2009 A genome-wide RNAi screen identifies multiple synthetic lethal interactions with the Ras oncogene. Cell 843 19490893
2003 Complete sequencing and characterization of 21,243 full-length human cDNAs. Nature genetics 754 14702039
2011 Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Briefings in bioinformatics 656 21873635
1997 Steroidogenic factor 1: a key determinant of endocrine development and function. Endocrine reviews 605 9183568
2010 An atlas of combinatorial transcriptional regulation in mouse and man. Cell 573 20211142
1999 A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. Nature genetics 488 10369247
1998 Direct interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-Müllerian hormone gene. Molecular and cellular biology 482 9774680
1994 Nuclear receptor steroidogenic factor 1 regulates the müllerian inhibiting substance gene: a link to the sex determination cascade. Cell 472 8205615
1998 Wilms' tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression. Cell 461 9590178
2015 Widespread macromolecular interaction perturbations in human genetic disorders. Cell 454 25910212
2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome research 438 15489334
2017 Synergistic drug combinations for cancer identified in a CRISPR screen for pairwise genetic interactions. Nature biotechnology 378 28319085
2006 Human mRNA export machinery recruited to the 5' end of mRNA. Cell 374 17190602
1995 Mice deficient in the orphan receptor steroidogenic factor 1 lack adrenal glands and gonads but express P450 side-chain-cleavage enzyme in the placenta and have normal embryonic serum levels of corticosteroids. Proceedings of the National Academy of Sciences of the United States of America 373 7479914
2005 Structural analyses reveal phosphatidyl inositols as ligands for the NR5 orphan receptors SF-1 and LRH-1. Cell 344 15707893
1999 Phosphorylation of the nuclear receptor SF-1 modulates cofactor recruitment: integration of hormone signaling in reproduction and stress. Molecular cell 323 10230405
1993 Ad4BP regulating steroidogenic P-450 gene is a member of steroid hormone receptor superfamily. The Journal of biological chemistry 321 8463279
2009 Mutations in NR5A1 associated with ovarian insufficiency. The New England journal of medicine 270 19246354
1994 Sex-dependent expression of a transcription factor, Ad4BP, regulating steroidogenic P-450 genes in the gonads during prenatal and postnatal rat development. Development (Cambridge, England) 227 7607070
2002 Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. The Journal of clinical endocrinology and metabolism 214 11932325
1999 Transcription factor GATA-4 enhances Müllerian inhibiting substance gene transcription through a direct interaction with the nuclear receptor SF-1. Molecular endocrinology (Baltimore, Md.) 201 10446911
2010 High diagnostic and prognostic value of steroidogenic factor-1 expression in adrenal tumors. The Journal of clinical endocrinology and metabolism 192 20660055
2010 Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. American journal of human genetics 191 20887963
2017 Covalently adaptable elastin-like protein - hyaluronic acid (ELP - HA) hybrid hydrogels with secondary thermoresponsive crosslinking for injectable stem cell delivery. Advanced functional materials 189 33041740
2003 SF-1 a key player in the development and differentiation of steroidogenic tissues. Nuclear receptor 189 14594453
1996 Ad4BP/SF-1, a transcription factor essential for the transcription of steroidogenic cytochrome P450 genes and for the establishment of the reproductive function. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 186 9002548
2006 Heat-shock transcription factor (HSF)-1 pathway required for Caenorhabditis elegans immunity. Proceedings of the National Academy of Sciences of the United States of America 181 16916933
2007 Increased steroidogenic factor-1 dosage triggers adrenocortical cell proliferation and cancer. Molecular endocrinology (Baltimore, Md.) 180 17761949
2000 Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency. American journal of human genetics 170 11038323
2007 Transcriptional activation of steroidogenic factor-1 by hypomethylation of the 5' CpG island in endometriosis. The Journal of clinical endocrinology and metabolism 164 17519303
2008 Prostaglandin E2 via steroidogenic factor-1 coordinately regulates transcription of steroidogenic genes necessary for estrogen synthesis in endometriosis. The Journal of clinical endocrinology and metabolism 161 19001523
2003 Tpit determines alternate fates during pituitary cell differentiation. Genes & development 160 12651892
2015 DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease. Best practice & research. Clinical endocrinology & metabolism 154 26303087
2008 Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development. Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 151 18987494
2007 Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. The Journal of clinical endocrinology and metabolism 151 17200175
1992 A brefeldin A-like phenotype is induced by the overexpression of a human ERD-2-like protein, ELP-1. Cell 144 1316805
2014 HSF-1-mediated cytoskeletal integrity determines thermotolerance and life span. Science (New York, N.Y.) 140 25324391
2017 Elastin-like protein-hyaluronic acid (ELP-HA) hydrogels with decoupled mechanical and biochemical cues for cartilage regeneration. Biomaterials 137 28268018
2010 Steroidogenic factor-1 (SF-1, NR5A1) and human disease. Molecular and cellular endocrinology 130 21078366
2009 Molecular aspects of steroidogenic factor 1 (SF-1). Molecular and cellular endocrinology 125 19616058
1999 Ptx1 regulates SF-1 activity by an interaction that mimics the role of the ligand-binding domain. The EMBO journal 107 10369682
2007 Adrenal development is initiated by Cited2 and Wt1 through modulation of Sf-1 dosage. Development (Cambridge, England) 104 17537799
2008 Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. Human mutation 103 17694559
2016 NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development. Genetics in medicine : official journal of the American College of Medical Genetics 89 27490115
2012 Caenorhabditis elegans HSF-1 is an essential nuclear protein that forms stress granule-like structures following heat shock. Aging cell 87 23107491
2014 The signaling phospholipid PIP3 creates a new interaction surface on the nuclear receptor SF-1. Proceedings of the National Academy of Sciences of the United States of America 83 25288771
2000 Disruption of the gene encoding SF-1 alters the distribution of hypothalamic neuronal phenotypes. The Journal of comparative neurology 81 10880989
2015 Heterotypic Signals from Neural HSF-1 Separate Thermotolerance from Longevity. Cell reports 78 26257177
2003 Requirement of the orphan nuclear receptor SF-1 in terminal differentiation of ventromedial hypothalamic neurons. Molecular and cellular neurosciences 77 12727442
2001 Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita. Human mutation 76 11748841
2008 Biochemical and functional characterization of anti-HIV antibody-ELP fusion proteins from transgenic plants. Plant biotechnology journal 72 18312505
2008 Structure of SF-1 bound by different phospholipids: evidence for regulatory ligands. Molecular endocrinology (Baltimore, Md.) 71 18988706
2005 Mouse Polycomb M33 is required for splenic vascular and adrenal gland formation through regulating Ad4BP/SF1 expression. Blood 69 15899914
2019 Mutation update for the NR5A1 gene involved in DSD and infertility. Human mutation 68 31513305
2016 Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals. Birth defects research. Part C, Embryo today : reviews 68 28033660
2011 Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias. PloS one 65 22028768
1995 Ad4BP in the human adrenal cortex and its disorders. The Journal of clinical endocrinology and metabolism 55 7629233
1994 Contribution of Ad4BP, a steroidogenic cell-specific transcription factor, to regulation of the human CYP11A and bovine CYP11B genes through their distal promoters. Journal of biochemistry 55 7798178
1995 Genomic organization and isoforms of the mouse ELP gene. Journal of biochemistry 53 8543574
2016 Haploinsufficiency of SF-1 Causes Female to Male Sex Reversal in Nile Tilapia, Oreochromis niloticus. Endocrinology 51 27046435
2008 Decreased recognition of SUMO-sensitive target genes following modification of SF-1 (NR5A1). Molecular and cellular biology 49 18838537
2006 Heat shock and genetic activation of HSF-1 enhance immunity to bacteria. Cell cycle (Georgetown, Tex.) 48 17106259
2019 Induction of Sertoli-like cells from human fibroblasts by NR5A1 and GATA4. eLife 47 31710289
2017 New NR5A1 mutations and phenotypic variations of gonadal dysgenesis. PloS one 43 28459839
2007 Histone deacetylase inhibitors reduce steroidogenesis through SCF-mediated ubiquitination and degradation of steroidogenic factor 1 (NR5A1). Molecular and cellular biology 43 17709382
2010 Adrenocortical development and cancer: focus on SF-1. Journal of molecular endocrinology 42 20200142
2014 Testicular differentiation factor SF-1 is required for human spleen development. The Journal of clinical investigation 41 24905461
2008 SUMOylation inhibits SF-1 activity by reducing CDK7-mediated serine 203 phosphorylation. Molecular and cellular biology 41 19015234
2004 Novel regulatory factors of HSF-1 activation: facts and perspectives regarding their involvement in the age-associated attenuation of the heat shock response. Mechanisms of ageing and development 40 15541771
2016 SF-1 deficiency causes lipid accumulation in Leydig cells via suppression of STAR and CYP11A1. Endocrine 39 27455990
2012 ELP-z and ELP-zz capturing scaffolds for the purification of immunoglobulins by affinity precipitation. Journal of biotechnology 39 23089730
2009 Optimization of ELP-intein mediated protein purification by salt substitution. Protein expression and purification 38 19345265
2001 Heat shock factor-4 (HSF-4a) is a repressor of HSF-1 mediated transcription. Journal of cellular biochemistry 38 11500947
1995 Function and distribution of a steroidogenic cell-specific transcription factor, Ad4BP. The Journal of steroid biochemistry and molecular biology 36 7626521
2017 Induction of suppressor of cytokine signaling 3 via HSF-1-HSP70-TLR4 axis attenuates neuroinflammation and ameliorates postoperative pain. Brain, behavior, and immunity 35 29017971
2006 Functional expression of a biologically active fragment of soluble gp130 as an ELP-fusion protein in transgenic plants: purification via inverse transition cycling. The Biochemical journal 34 16716147
2012 Beyond steroidogenesis: novel target genes for SF-1 discovered by genomics. Molecular and cellular endocrinology 33 23168267
2012 A dual ELP-tagged split intein system for non-chromatographic recombinant protein purification. Applied microbiology and biotechnology 33 23212673
2003 Functional characterization of a new human Ad4BP/SF-1 variation, G146A. Biochemical and biophysical research communications 33 14623279
2016 HSF-1 activates the ubiquitin proteasome system to promote non-apoptotic developmental cell death in C. elegans. eLife 31 26952214
2014 Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development. European journal of endocrinology 30 24591553
2010 Update--steroidogenic factor 1 (SF-1, NR5A1). Minerva endocrinologica 30 20595937
2019 Steroidogenic Factor 1 (Nr5a1) is Required for Sertoli Cell Survival Post Sex Determination. Scientific reports 29 30872705
2011 Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI). Fertility and sterility 29 22100173
2016 Multivalent Targeting Based Delivery of Therapeutic Peptide using AP1-ELP Carrier for Effective Cancer Therapy. Theranostics 28 27924160
2011 Steroidogenic Factor 1 (NR5A1) resides in centrosomes and maintains genomic stability by controlling centrosome homeostasis. Cell death and differentiation 28 21566663
2018 Insulin Regulates Adrenal Steroidogenesis by Stabilizing SF-1 Activity. Scientific reports 26 29567944
2009 Inhibition of ovarian cancer cell metastasis by a fusion polypeptide Tat-ELP. Clinical & experimental metastasis 26 19169893
2019 Purification of proteins using peptide-ELP based affinity precipitation. Journal of biotechnology 25 31874207
2018 Ad4BP/SF-1 regulates cholesterol synthesis to boost the production of steroids. Communications biology 25 30271905
2000 Impaired steroidogenic factor 1 (NR5A1) activity in mutant Y1 mouse adrenocortical tumor cells. Molecular endocrinology (Baltimore, Md.) 25 10770490
1996 A novel endozepine-like peptide (ELP) is exclusively expressed in male germ cells. Molecular and cellular endocrinology 24 8898349
2014 Prenatal nicotinic exposure suppresses fetal adrenal steroidogenesis via steroidogenic factor 1 (SF-1) deacetylation. Toxicology and applied pharmacology 23 24709674
2023 Transcellular chaperone signaling is an intercellular stress-response distinct from the HSF-1-mediated heat shock response. PLoS biology 22 36780563
2021 Neuronal HSF-1 coordinates the propagation of fat desaturation across tissues to enable adaptation to high temperatures in C. elegans. PLoS biology 22 34723964
2020 Coordination of Multiple Cellular Processes by NR5A1/Nr5a1. Endocrinology and metabolism (Seoul, Korea) 22 33397036
2023 DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis. Life (Basel, Switzerland) 20 37240737
2020 Anti-CD99 scFv-ELP nanoworms for the treatment of acute myeloid leukemia. Nanomedicine : nanotechnology, biology, and medicine 20 32535112
2022 Sex-specific splicing of Z- and W-borne nr5a1 alleles suggests sex determination is controlled by chromosome conformation. Proceedings of the National Academy of Sciences of the United States of America 19 35074916
2018 Elastin-like Polypeptide (ELP) Charge Influences Self-Assembly of ELP-mCherry Fusion Proteins. Biomacromolecules 19 29791150
2017 One-step affinity capture and precipitation for improved purification of an industrial monoclonal antibody using Z-ELP functionalized nanocages. Biotechnology and bioengineering 19 28986999
2014 Vanin-1 inactivation antagonizes the development of adrenocortical neoplasia in Sf-1 transgenic mice. Endocrinology 19 24712878
1996 SF-1: a key regulator of development and function in the mammalian reproductive system. Acta paediatrica Japonica : Overseas edition 19 8840555
2011 Coactivation of SF-1-mediated transcription of steroidogenic enzymes by Ubc9 and PIAS1. Endocrinology 18 21467194
2019 Impact of Elastin-like Protein Temperature Transition on PEG-ELP Hybrid Hydrogel Properties. Biomacromolecules 17 30966747
2019 The humanin peptide mediates ELP nanoassembly and protects human retinal pigment epithelial cells from oxidative stress. Nanomedicine : nanotechnology, biology, and medicine 17 31655204
2010 NR5A1/SF-1 and development and function of the ovary. Annales d'endocrinologie 16 20394914
2022 Combinatorial Use of Therapeutic ELP-Based Micelle Particles in Tissue Engineering. Advanced healthcare materials 15 35373501
2020 Extension of Survival in Bilaterally Adrenalectomized Mice by Implantation of SF-1/Ad4BP-Induced Steroidogenic Cells. Endocrinology 15 31950150
2019 Radiosensitization of HSF-1 Knockdown Lung Cancer Cells by Low Concentrations of Hsp90 Inhibitor NVP-AUY922. Cells 15 31569342
2018 Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer. Human mutation 15 30067310
2014 Mutational screening of the NR5A1 in azoospermia. Andrologia 15 24750329
2020 Seasonal expressions of SF-1, StAR and P450scc in the scent glands of the muskrats (Ondatra zibethicus). The Journal of steroid biochemistry and molecular biology 14 32991988
2016 Effect of ELP Sequence and Fusion Protein Design on Concentrated Solution Self-Assembly. Biomacromolecules 14 26927835
2024 Role of NR5A1 Gene Mutations in Disorders of Sex Development: Molecular and Clinical Features. Current issues in molecular biology 13 38785542
2022 Application of elastin-like polypeptide (ELP) containing extra-cellular matrix (ECM) binding ligands in regenerative medicine. International journal of biological macromolecules 13 35276294
2021 A fish with no sex: gonadal and adrenal functions partition between zebrafish NR5A1 co-orthologs. Genetics 13 33724412
2021 Pubertal development in 46,XY patients with NR5A1 mutations. Endocrine 13 34613524
2018 Recombinant buckwheat glutaredoxin intake increases lifespan and stress resistance via hsf-1 upregulation in Caenorhabditis elegans. Experimental gerontology 13 29414672
2012 The mammary gland-specific marsupial ELP and eutherian CTI share a common ancestral gene. BMC evolutionary biology 13 22681678
2017 HSF-1 is a regulator of miRNA expression in Caenorhabditis elegans. PloS one 12 28837599
2015 Fused hydrophobic elastin-like-peptides (ELP) enhance biological activity of tumor necrosis factor-related apoptosis-inducing ligand (TRAIL). Protein and peptide letters 12 26299999
2014 Development of an ELP-Z based mAb affinity precipitation process using scaled-down filtration techniques. Journal of biotechnology 12 25285370
2014 NR5A1 prevents centriole splitting by inhibiting centrosomal DNA-PK activation and β-catenin accumulation. Cell communication and signaling : CCS 12 25421435
2024 HSF-1 promotes longevity through ubiquilin-1-dependent mitochondrial network remodelling. Nature communications 11 39532882