Property Summary

NCBI Gene PubMed Count 200
PubMed Score 831.61
PubTator Score 465.08

Knowledge Summary

Patent (63,724)

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis -1.400 1.6e-04

Protein-protein Interaction (1)

MLP Assay (14)

AID Type Active / Inconclusive / Inactive Description
522 screening 1225 / 0 / 63700 Primary Cell-based High Throughput Screening assay for activators of the nuclear receptor Steroidogenic Factor 1 (SF-1)
525 screening 359 / 0 / 64566 Primary Cell-based High Throughput Screening assay for inhibitors of the nuclear receptor Steroidogenic Factor 1 (SF-1)
600 confirmatory 213 / 0 / 146 Dose-response cell-based assay for inhibitors of the nuclear receptor Steroidogenic Factor 1 (SF-1)
611 confirmatory 195 / 0 / 78 Counterscreen for inhibitors of the Retinoic Acid Receptor-related orphan receptor A (RORA): A cell-based dose-response assay for inhibition of the Steroidogenic Factor 1 (SF-1)
692 confirmatory 75 / 0 / 32 Dose-response cell-based assay for activators of the nuclear receptor Steroidogenic Factor 1 (SF-1)
695 confirmatory 45 / 0 / 18 Counterscreen for activators of the Retinoic Acid Receptor-related orphan receptor A (RORA): A cell-based dose-response assay for inhibition of the Steroidogenic Factor 1 (SF-1)
1951 summary 0 / 0 / 6 Summary of probe development efforts to identify activators of the nuclear receptor Steroidogenic Factor 1 (SF-1).
2277 screening 14 / 0 / 0 Center Based Initiative to identify novel modulators of the Retinoic acid receptor-related Orphan Receptors (ROR): luminescence-based high throughput cell-based assay to identify modulators of human nuclear receptors.
504934 other 1 / 0 / 0 Late stage assay provider results from the probe development effort to identify inverse agonists of the liver receptor homolog-1 (LRH-1; NR5A2): luminescence-based high throughput cell-based assay to identify modulators of human nuclear receptors
651614 screening 1836 / 0 / 506 Counterscreen for inverse agonists of the liver receptor homolog-1 (LRH-1; NR5A2): Luminescence-based cell-based high throughput assay to identify inverse agonists of the Steroidogenic Factor 1 Nuclear Receptor (SF1; NR5A1)
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Gene RIF (158)

PMID Text
26406169 this is the first report of the NR5A1 splice site mutation, which was proven to be deleterious by the RT-PCR method.
26200099 Describe microcystic stromal tumor as a distinctive ovarian sex cord-stromal neoplasm characterized by FOXL2, SF-1, WT-1, Cyclin D1, and beta-catenin nuclear expression and CTNNB1 mutations.
26139438 genetic defects of NR5A1 should be considered as an etiology in subjects with 46,XY DSD without adrenal insufficiency.
25989977 Mutations in NR5A1 were associated with male factor infertility, especially when associated with history of cryptorchidism.
25985323 DAX1 and SF1 expression positively correlated in pediatric adrenocortical tumors, suggesting that these transcription factors might cooperate in adrenocortical tumorigenesis.
25896302 These findings demonstrate that in vitro LRH-1 can act like SF-1 and compensate for its deficiency.
25604140 Aberrant SF-1 expression was significantly higher in ovarian sex cord stromal tumors than that of ovarian cancer.
25502990 a pair of male siblings with hypospadias and their father carrying a novel heterozygous mutation c.910G>A, p.E304K in NR5A1 gene; asymptomatic father, preserved fertility, also carried p.E304K; findings revealed that mutation retained partial activity which may result in asymptomatic 46,XY male phenotype with preserved fertility
25288771 analysis of how signaling phospholipid PIP3 creates a new interaction surface on the nuclear receptor SF-1
25283508 SF1 SNPs are associated with serum uric acid levels in Chinese males and females.
25122490 In vitro, SF-1 mutations affect not only steroidogenesis but also transcription of BDNF which is involved in energy balance
25099250 We confirmed that the variant disrupts the SF1 protein and its ability to bind and regulate downstream genes. NR5A1 has key roles at multiple points in gonad development and steroidogenic pathways.
24905461 data provide evidence that SF-1 is required for spleen development in humans via transactivation of TLX1 and that mutations that only impair steroidogenesis, without altering the SF1/SRY transactivation of SOX9, can lead to 46,XY-DSD.
24828505 MiR-320 regulates the expression and functions of E2F1 and SF-1 in Polycystic Ovary Syndrome patients.
24750329 mutations in the NR5A1 gene are not common in azoospermia, and male infertility and inclusion of NR5A1 mutation screening in the diagnostic workup of male infertility may seem unnecessary.
24635384 C/EBPbeta is an important mediator of progesterone production by working together with SF-1, especially under tropic hormone-stimulated conditions
24591553 genetic association studies in population in Egypt: Data suggest that mutations or single nucleotide polymorphisms in NR5A1 can result in 46,XY disorders of sex development; in this study, 17 patients (34%) harbored p.Gly146Ala polymorphism.
24531914 Data suggest levels of steroidogenic factor 1/AD4BP/NR5A1 in subcapsular zone of adrenal glands (zona glomerulosa) are not different in subjects with primary aldosteronism, with aldosterone-producing adrenocortical adenomas, or normal subjects.
24434652 NR5A1 gene mutations are a relatively frequent cause of 46,XY disorders of sex development in humans.
24405868 novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels
24321386 These results indicated that abundant FDXR expression in these steroidogenic cells was maintained through SF-1 binding to the intronic enhancer of the FDXR gene
24076780 Letter: expression of sex cord-stromal markers SF-1 and FOXL2 in luteinized thecomas associated with sclerosing peritonitis.
24067197 we report an Iranian family with a history of both azoospermia and premature ovarian insufficiency with the same heterozygote mutation in the NR5A1 gene that can be transmitted.
24012099 Data indicate that fallopian tube and the epithelial component of Brenner tumours (BTs) expressed AKR1C3 and androgen receptor, but the tumour stromal cells showed strong expression of calretinin, inhibin and steroidogenic factor 1 in the majority of BTs.
23969951 a reduced number of thin seminiferous tubules and focal aggregations of Leydig cells that contained cytoplasmic lipid droplets were found in 6 patients had NR5A1 mutations
23918653 This case is the first report of a familial NR5A1 CNV transmitting in a pedigree, causing both the male and female phenotypes associated with NR5A1 mutations, and the first report of a NR5A1 CNV associated with POF.
23899549 A strong correlation is identified between steroidogenic factor 1 expression in endometrial cells and association with intron 1.
23729601 genetic association study in population of boys in China: Data suggest mutations in SRD5A2 [steroid-5a-reductase, alpha peptide 2] (and possibly SF1/NR5A1 [steroidogenic factor 1]; probably not AR [androgen receptor]) are associated with hypospadias.
23650189 Data indicate that steroidogenic factor 1 (SF-1) and glutathione S-transferase A (GSTA) family genes (hGSTA1-hGSTA4) are involved in steroidogenesis.
23610160 The SF1 and SREBP1 activate DGKtheta; transcription in a cAMP-dependent manner in human adrenocortical cells.
23543655 genetic association studies in population in Europe/North Africa: Data exclude NR5A1 mutations (missense mutations in 3 subjects) as a major genetic cause of primary ovarian insufficiency.
23537609 Data conclude that SF-1 regulates aromatase expression in GCT; over-expression of LRH-1 suggests that this receptor may be involved in the pathogenesis of GCT by mechanisms other than the regulation of aromatase.
23471216 SF-1 regulates LRH-1 expression in ovarian granulosa cells.
23450049 SF-1 expression was inhibited by miR23a/b overexpression in eutopic endometrial stromal cells(ESCs) and upregulated by miR23a/b inhibition in normal ESCs.
23313103 study found that POD-1/TCF21 acts as a transcriptional suppressor of SF-1 gene expression in adrenocortical carcinoma cells; a possible mechanism involved in repression of SF-1 expression is through POD-1 binding to the E-box sequence in the SF-1 promoter region
23299922 Mutations altering SF1 protein function and causing spermatogenic failure are also found in men of German origin with severe oligozoospermia.
23291911 These data also present novel molecular mechanisms that may explain the loss of SF1 protein in ovarian tumors, and its potential role in ovarian carcinogenesis.
23218904 heterochromatin-specific nonhistone chromosomal protein HP-1
23165333 No nuclear SF-1 expression was identified in any of the 127 germ cell tumors
23158211 SF-1 is detectable in a high percentage of adrenocortical cancers and its high expression levels correlate with high-grade features, histologic type, functional status, and adverse outcome.
23154282 findings show that the p.G146A and p.P125P polymorphisms of the SF-1 gene do not play an important role in the development of hypospadias with varying degrees in the investigated Caucasian population
23153500 We identified one new NR5A1 mutation in a patient of our POI cohort (prevalence 3.8%).
23096908 Association between mutations in NR5A1 and PIN1 and idiopathic hypogonadotropic hypogonadism.
23095176 findings suggested that NR5A1 mutations resulted in psychiatric symptoms in 46,XX patients
23044873 SF-1 is a central regulator of reproductive development and reproductive function; defects/mutations in SF-1 are surprisingly frequent causes of reproductive dysfunction in subjects with disorders of sex development. [REVIEW]
22987798 Although the ventromedial nucleus of the hypothalamus shares a common lineage, it further differentiates into a neuronal cluster devoid of steroidogenic factor (SF)-1.
22951804 Mutations in the SF1 gene is associated with premature ovarian failure.
22927646 these results demonstrate that ASAH1 is a novel coregulatory protein that represses SF-1 function by directly binding to the receptor on SF-1 target gene promoters and identify a key role for nuclear lipid metabolism in regulating gene transcription.
22907560 preserved fertility can be observed in patients with a 46,XY disorder of sex development due to heterozygous mutations in the NR5A1 gene.
22832114 This result indicates that SALL4 and SF-1 could be used to distinguish Granulosa cell and yolk sac tumors
22715467 Data show that inositol polyphosphate multikinase (IPMK) interacts with the nuclear receptor steroidogenic factor 1 (SF-1) and phosphorylates its bound ligand Phosphatidylinositol 4,5-bisphosphate (PIP).
22553814 SF-1 and EMA may be helpful in the differentiation of adrenal tumors from renal tumors in difficult cases.
22549935 SF-1/NR5A1 mutations are frequently found in 46,XY DSD individuals (9%) and manifest with a broad phenotype.
22474171 Analysis of NR5A1 revealed novel heterozygous missense mutation in the ligand-binding domain in two 46,XY patients with disorders of sex development.
22427816 analysis of differentially expressed genes indicates systemic role for SF-1 in adrenal cortex affecting differentiation, proliferation and steroidogenesis and establishes RNF31 as an important regulator of adrenal steroidogenesis
22218443 The findings reviewed here indicate a complex expressivity of the phenotype, penetrance, and modes of inheritance of NR5A1 mutations, and suggest that more research has to be done to figure out how NR5A1 mutations correlate with different phenotypes.
22100173 Mutations in the NR5A1 gene are rare in women with primary ovarian insufficiency.
22028768 range of phenotypes associated with NR5A1 mutations
22024498 SF-1 expression during adrenal development and tumourigenesis.
21926385 study demonstrated that methylation of a coding exon/intron sequence in the steroidogenic factor 1 gene positively regulated its expression in endometriosis
21775434 ligand-binding pocket of the FTZ-F1 LBD is completely occupied by helix 6 (H6) of the receptor, whereas the cofactor FTZ binds the co-activator cleft site of the FTZ-F1 ligand-binding domain
21693691 SOX9 and SF1 binding to the anti-mullerian hormone promoter is essential to increase the activity of the AMH promoter in response to cAMP.
21467194 Ubc9 and PIAS1 potentiated SF-1-mediated transactivation of human CYP17, CYP11A1, and CYP11B1 but not CYP11B2 promoters.
21412441 SRY and SF1 co-operate to activate the human SOX9 homologous testis-specific enhancer of Sox9 (hTES), a process dependent on phosphorylated SF1.
21324456 Report expression of SF-1 in ovarian mesenchymatous cells closely surrounding endometriotic foci ovarian mesenchymatous cells.
21242195 Novel SRY mutations and SF1 (NR5A1) changes in patients with pure gonadal dysgenesis and 46,XY karyotype have been identified.
21239516 SF-1-dependent up-regulation of SOAT1 may be important for maintaining readily-releasable cholesterol reserves needed for active steroidogenesis and during episodes of recurrent stress.
21164257 This review will focus on the expanding range of phenotypes associated with DAX-1 and SF-1 mutations.
21163858 We have identified Ang2 as a potentially important novel target of SF-1 in the adrenal gland, indicating that regulation of angiogenesis might be an important additional mechanism by which SF-1 exerts its actions in the adrenal gland
21163858 SF-1 binds to and activates the promoter of ANGPT2 (angiopoietin-2) in human adrenal cells, suggesting that SF-1 may have a role in adrenal angiogenesis during development or tumorigenesis
21163476 First report of a progressive and predominant Sertoli cell defect in an XY patient with testicular dysgenesis owing to NR5A1/SF-1 mutation.
21129436 These results indicated that pluripotent stem cells could be differentiated into steroidogenic cells by the nuclear receptor 5A family of protein via the mesenchymal cell lineage.
21111025 The molecular mechanisms regulating energy homeostasis and body weight in the ventral medial hypothalamic nucleus, particularly stressing the SF-1 expressing neurons, are reviewed.
21081692 It is concluded that ACTH via the PKA pathway stimulates expression of SF-1, which activates transcription of LIPE presumably by interaction with putative binding sequences within promoter A
21078366 The clinical spectrum of phenotypes associated with variations in SF-1 is expanding and the importance of this nuclear receptor in human endocrine disease is now firmly established.
20887963 NR5A1 mutations are found in approximately 4% of men with otherwise unexplained severe spermatogenic failure.
20887963 Observational study of gene-disease association. (HuGE Navigator)
20875752 Data show that steroidogenic factor-1 (SF-1) mRNA and protein levels in aldosterone-producing adenoma (APA) samples were significantly higher.
20861607 3 heterozygous mutations in SF-1 presenting with extreme within-family divergence in phenotypes in 46,XY subjects of 2 unrelated families; low ovarian reserve/preserved fertility in 46,XX subjects observed in heterozygous SF-1 mutations
20660055 SF-1 is a highly valuable immunohistochemical marker to determine the adrenocortical origin of an adrenal mass with high sensitivity and specificity. SF-1 expression is of stage-independent prognostic value in patients with adrenocortical carcinoma.
20601698 novel SF-1 binding sites between 3,000 and 3,400 bp upstream of StAR
20498720 SEDLIN is present in the nucleus, forms homodimers and that SEDT-associated mutations cause a loss of interaction with the transcription factors MBP1, PITX1 and SF1.
20453312 Case of XY complete gonadal dysgenesis due to a homozygous mutation in the NR5A1 gene.
20394914 Mutations of the NR5A1 gene may be a significant cause of human ovarian insufficiency
20302644 The need to systematically analyze the SF1 sequence in girls with primary amenorrhea due to 46,XY DSD (disorders of sex differentiation) and low testosterone, as well as in newborns with 46,XY DSD.
20207836 Data show that human FOXL2 and SF-1 proteins interact in human granulosa cells and that FOXL2 negatively regulates the transcriptional activation of a steroidogenic enzyme, CYP17, by SF-1.
20133449 Results indicate that PGC-1 is involved in progesterone production in ovarian granulosa cells by potentiating transcriptional activities of SF1 proteins.
20080844 We demonstrated a higher frequency of SF-1 overexpression and gene amplification in pediatric than in adult adrenocortical tumors, suggesting an important role of SF-1 in pediatric adrenocortical tumorigenesis.
20045459 Down-regulation of hSF-1 contributes to progression of ovarian epithelial cancers.
20026603 FXR is able to compete with steroidogenic factor 1 in binding to a common sequence present in the aromatase promoter region interfering negatively with its activity.
19930843 Increased steroidogenic factor 1 expression is associated with endometriosis severity.
19878766 A better understanding in the regulatory mechanisms of SF-1 signaling pathway, will open new avenues for diagnostic and therapeutic managements of sex differentiation disorders and infertilities--REVIEW
19875956 strong expression in cortical and medullary ovarian mesenchymatous cells adjacent to endometriosis, potential role in steroidogenesis
19849982 Mutations are associated with primary ovarian insufficiency and in testicular diseases in humans [review.
19692572 Data show that the ATPase activity of ARIP4 was stimulated in the presence of sumoylated Ad4BP/SF-1 and the Ad4BP/SF-1-binding site containing double-stranded DNA.
19549922 SF1 increases local concentrations of estrogen and mediates the proliferative effects of synthetic estrogens such as tamoxifen, in promoting endometriosis and endometrial cancers.
19439508 SF-1 (NR5A1) mutations should be considered in 46,XY individuals with severe (penoscrotal) hypospadias, especially if undescended testes, low testosterone, or low inhibin B/AMH levels are present.
19246354 NR5A1 mutations are associated with 46,XX primary ovarian insufficiency and 46,XY disorders of sex development.
19237537 DAX-1 acts as a transcriptional corepressor of steroidogenic factor 1 (SF-1).
19022561 both SF1 and LRH1 can transcriptionally cooperate with the AP-1 family members c-JUN and c-FOS, known to be associated with enhanced proliferation of endometrial carcinoma cells, to further enhance activation of the STAR, HSD3B2, and CYP19A1 PII promoters
19001523 Endometriotic cells contain the full complement of steroidogenic genes for de novo synthesis of estradiol from cholesterol, which is stimulated by PGE2 via enhanced binding of SF1 to promoters of StAR and aromatase genes in a synchronous fashion.
18984668 The positive interaction between DAX1 and SF-1 in regulating PBX1 may be an important mechanism in adrenal gland development and diseases.
18974272 The opposing effects of SF-1 on CYP11B1 and CYP11B2 suggest that the regulation of SF-1 activity may play a role that determines the relative ability to produce mineralocorticoid and glucocorticoid.
18824868 Ad4BP/SF-1 and DAX-1 are expressed not only in benign adrenal adenoma but also malignant adrenocortical carcinoma, it is useful to distinguish from other retroperitoneal tumors
18665078 Differential expression of steroidogenic factors 1 and 2, cytochrome p450scc, and steroidogenic acute regulatory protein in the pancreas.
18653709 DNA methylation of the proximal steroidogenic factor 1 promoter controls tissue-specific expression
18653709 A region within the SF1/Sf1 gene which epigenetically directs cell-specific expression of SF1.
18579725 The NR5A1 gene expression was activated in mesenchymal stem cells by siRNA directed against protein kinase C (PKC)-delta, erb-B3, RhoGAP (ARHGAP26), and hexokinase 2.
18182853 EID-1 inhibits SF-1. it colocalized with SF-1 in mammalian cells and interacted specifically with the AF-2 domain of SF-1, competing with SRC-1 to inhibit SF-1 transactivation.
18165439 Data show that the elevated levels of USF2 in endometriosis account for, in part, the aberrant expression of SF-1 and its target gene StAR and aromatase.
17975261 Data show that steroidogenic factor 1/adrenal 4 binding protein transforms human bone marrow mesenchymal cells into steroidogenic cells.(
17940071 heterozygous partial loss of function mutations in SF1 may be associated with bilateral anorchia ('vanishing testis syndrome') and micropenis in humans
17901130 Data revealed that SF1 and CDK7 reside in the same complex and SF1 was phosphorylated in vitro by CDK7.
17786540 SMAD3 dependent inactivation of CYP17 promoter activity and repression of SF-1 expression.
17761949 reveal a critical role for SF-1 dosage in adrenocortical tumorigenesis
17694559 SF1 mutations are a relatively frequent cause of 46,XY disorders of sex development in humans.
17664281 Data show that cyclic AMP-stimulated interaction between steroidogenic factor 1 and diacylglycerol kinase theta facilitates induction of CYP17.
17520059 Atrazine-induced aromatase expression is SF-1 dependent: implications for endocrine disruption in wildlife and reproductive cancers in humans.
17519303 this is the first demonstration of methylation-dependent regulation of SF-1 in any mammalian tissue
17488792 study reporta a SF-1 mutation that caused ambiguous genitalia associated with strikingly different hormonal phenotypes in two affected 46,XY children from the same family
17331471 atrazine binds to and activates SF-1 to induce aromatase gene expression via promoter II
17226773 These data indicate that SF-1 plays a crucial role in the regulation of hOct4 transcription through direct binding to the 1st SF-1 in Conserved Regions 1 of the hOct4 proximal promoter.
16887917 Sphingosine is a bonafide endogenous ligand for SF1 and a negative regulator of CYP17 gene expression.
16834661 Ad4bp/SF-1 is important for the maintenance of steroidogenesis in the human testis
16816804 expressed widely throughout the adrenal and reproductive axes during development and plays a central role in the function of these endocrine systems in post-natal and adult life
16684822 steroidogenic factor 1 mutations causing adrenal failure in humans are rare and are more likely to be associated with significant underandrogenization and gonadal dysfunction in 46,XY individuals
16595694 SF-1 trans-activation is repressed by GIOT-1
16564598 Observational study of gene-disease association. (HuGE Navigator)
16564598 The SF-1 Gly146Ala variation may constitute a susceptible factor for development of type 2 diabetes and impairment of insulin actions.
16500365 Observational study of gene-disease association. (HuGE Navigator)
16500365 Ala allele, the Ala/Gly genotype, and the Ala/Ala plus Ala/Gly genotype frequencies were significantly higher in cryptorchidism. Gly146Ala polymorphism may be susceptibility factor for cryptorchidism.
16469813 the SULT2A1 gene is mediated by SF1 and indirectly regulated by T(3)
16127213 Observational study of gene-disease association. (HuGE Navigator)
16127213 the SF-1 Gly146Ala polymorphism may constitute a susceptibility factor for the development of severe micropenis, and that mild micropenis can be regarded as a normal variation in terms of the polymorphism effec
15879363 Mutation of the SF-1-binding sites within the hACTH-R promoter resulted in reduced or abolished DAX-1 inhibition, arguing for a mechanism that involves SF-1 for DAX-1 inhibition
15831526 cytochrome b5 gene transcription is regulated by Sp3, GATA-6, and steroidogenic factor 1 in human adrenal NCI-H295A cells
15707893 Human SF-1 receptor binds phosphatidyl inositol second messengers;ligand binding is required for maximal activity.
15666825 SF1 contained a fortuitous ligand in the binding pocket. This ligand may account for the relatively high basal activity observed for SF1 in cofactor recruitment and cell-based assays.
15579738 Mutations in SF-1 cause spectrum of phenotypes associated with loss of SF-1 function. Mutations in SF-1 should be considered in XY gonadal dysgenesis, whether or not there is evidence of adrenal insufficinecy. Review.
15546904 Increased copy number of the SF-1 gene in adrenocortical tumorigenesis.
15471945 LBP-1b is an important SF1-independent transcriptional activator stimulating P450scc expression in human placental JEG-3 cells, whereas LBP-9 modulates the action of LBP-1b, exerting both positive and negative effects
15388788 Both SF1 and GATA-6 were positive regulators of Steroid sulfotransferase 2A1 promoter constructs
15379426 It remains probable that this unusual patient has either a DAX1 or SF1 mutation defect. A Wnt-4 defect was not evaluated.
15261303 SF1 has a role in basal expression of ACTH receptor and its induction by potassium and cAMP
15192080 It is revealed with an in vitro sumoylated Ad4BP/SF-1 that DNA binding activity and interaction with Sox9 are unaffected.
15044589 DAX-1alpha can bind to steroidogenic factor 1 and to DNA but is unable to repress steroidogenic factor 1-mediated transcriptional activation of the reporter gene and acts as an antagonist of DAX-1 under certain conditions
14623279 We report the first functional characterization of a new variation found in the hinge region of human Ad4BP/SF-1, G146A
14555713 Protein kinse A signal pathway may modify the interaction between Ad4BP/SF-1 and its activators and repressors.
12907682 Wild-type SF1 but not SF1 G35E is a potent transactvator in GAGA4-expressing cells. Results strengthen the importance of a GATA-4/SF-1 cooperation for MIS transcription; disruption of this synergism might lead to abnormal sex differentiation.
12727988 modulation of DAX-1 and steroidogenic factor-1 intracellular levels in granulosa cells suggests that these transcription factors could be involved in mitogen-activated protein kinase suppression of steroidogenic acute regulatory protein expression
12161505 Spatially heterogeneous expression of aromatase P450 through promoter II is closely correlated with the level of steroidogenic factor-1 transcript in endometrioma tissues.
12101186 SF1 plays a role in regulating p450scc expression with TReP-132 and CBP/p300
12083815 adrenal hypoplasia congenita and multiple pituitary hormone deficiency without mutations in the DAX1 or SF1 genes
12083805 steroidogenic factor 1 mutations in primary adrenal failure and 46,XY sex-reversal
11932325 SF-1 mutation (R92Q) in a highly conserved residue of the A-box, a region that functions as a secondary DNA-binding domain. partial loss of DNA binding and transcriptional activity, its phenotypic expression only when transmitted as a homozygous trait.
11932209 Differential regulation of aldosterone synthase and 11beta-hydroxylase transcription by steroidogenic factor-1.
11886523 important regulators of steroidogeneisis are present in human skin and its appendages.
11738790 describe phenotypic spectrum of disorders associated with mutations and reveal how the discovery of naturally occurring mutations is helping to unravel the role in development and disease [review]

AA Sequence

MDYSYDEDLDELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKHYTCTESQSCKIDKTQRKRCPFCRF      1 - 70
QKCLTVGMRLEAVRADRMRGGRNKFGPMYKRDRALKQQKKAQIRANGFKLETGPPMGVPPPPPPAPDYVL     71 - 140
PPSLHGPEPKGLAAGPPAGPLGDFGAPALPMAVPGAHGPLAGYLYPAFPGRAIKSEYPEPYASPPQPGLP    141 - 210
YGYPEPFSGGPNVPELILQLLQLEPDEDQVRARILGCLQEPTKSRPDQPAAFGLLCRMADQTFISIVDWA    211 - 280
RRCMVFKELEVADQMTLLQNCWSELLVFDHIYRQVQHGKEGSILLVTGQEVELTTVATQAGSLLHSLVLR    281 - 350
AQELVLQLLALQLDRQEFVCLKFIILFSLDLKFLNNHILVKDAQEKANAALLDYTLCHYPHCGDKFQQLL    351 - 420
LCLVEVRALSMQAKEYLYHKHLGNEMPRNNLLIEMLQAKQT                                 421 - 461
//

Text Mined References (205)

PMID Year Title
26406169 2016 Functional Characterization of c.870+3_6delGAGT Splice Site Mutation in NR5A1.
26200099 2015 Microcystic Stromal Tumor: A Distinctive Ovarian Sex Cord-Stromal Neoplasm Characterized by FOXL2, SF-1, WT-1, Cyclin D1, and ?-catenin Nuclear Expression and CTNNB1 Mutations.
26139438 2015 Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency.
25989977 2015 Mutational screening of NR5A1 gene encoding steroidogenic factor 1 in cryptorchidism and male factor infertility and functional analysis of seven undescribed mutations.
25985323 2015 DAX1 Overexpression in Pediatric Adrenocortical Tumors: A Synergic Role with SF1 in Tumorigenesis.
25896302 2015 LRH-1 May Rescue SF-1 Deficiency for Steroidogenesis: An in vitro and in vivo Study.
25604140 2015 Clinicopathological significance of steroidogenic factor-1 expression in ovarian cancer versus ovarian sex cord stromal tumor.
25502990 2015 Fertility preservation in a family with a novel NR5A1 mutation.
25416956 2014 A proteome-scale map of the human interactome network.
25288771 2014 The signaling phospholipid PIP3 creates a new interaction surface on the nuclear receptor SF-1.
25283508 2014 Serum uric acid levels are associated with polymorphisms in the SLC2A9, SF1, and GCKR genes in a Chinese population.
25122490 2014 Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis.
25099250 2015 Whole exome sequencing combined with linkage analysis identifies a novel 3?bp deletion in NR5A1.
24905461 2014 Testicular differentiation factor SF-1 is required for human spleen development.
24828505 2014 Transactivation of micrornA-320 by microRNA-383 regulates granulosa cell functions by targeting E2F1 and SF-1 proteins.
24750329 2015 Mutational screening of the NR5A1 in azoospermia.
24635384 2014 C/EBP? (CCAAT/enhancer-binding protein ?) mediates progesterone production through transcriptional regulation in co-operation with SF-1 (steroidogenic factor-1).
24591553 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.
24531914 2014 GATA6, SF1, NGFIB and DAX1 in the remodeled subcapsular zones in primary aldosteronism.
24434652 2014 NR5A1 gene mutations: clinical, endocrine and genetic features in two girls with 46,XY disorder of sex development.
24405868 2014 The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency.
24321386 2014 Transcriptional regulation of human ferredoxin reductase through an intronic enhancer in steroidogenic cells.
24076780 2013 Luteinized thecomas (thecomatosis) associated with sclerosing peritonitis exhibit positive staining with sex cord markers steroidogenic factor-1 (SF-1) and FOXL2.
24067197 2014 An Iranian family with azoospermia and premature ovarian insufficiency segregating NR5A1 mutation.
24012099 2013 Ovarian Brenner tumour: a morphologic and immunohistochemical analysis suggesting an origin from fallopian tube epithelium.
23969951 2013 Characteristic testicular histology is useful for the identification of NR5A1 gene mutations in prepubertal 46,XY patients.
23918653 2013 Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.
23899549 2014 Methylation of a novel CpG island of intron 1 is associated with steroidogenic factor 1 expression in endometriotic stromal cells.
23729601 2013 Mutation analysis of the SRD5A2, AR and SF-1 genes in 52 Chinese boys with hypospadias.
23650189 2013 Human glutathione S-transferase A (GSTA) family genes are regulated by steroidogenic factor 1 (SF-1) and are involved in steroidogenesis.
23637637 2013 Scavenger receptors mediate the role of SUMO and Ftz-f1 in Drosophila steroidogenesis.
23610160 2013 cAMP-stimulated transcription of DGK? requires steroidogenic factor 1 and sterol regulatory element binding protein 1.
23543655 2013 NR5A1 (SF-1) mutations are not a major cause of primary ovarian insufficiency.
23537609 2013 Liver receptor homologue-1 expression in ovarian epithelial and granulosa cell tumours.
23471216 2013 A novel isoform of liver receptor homolog-1 is regulated by steroidogenic factor-1 and the specificity protein family in ovarian granulosa cells.
23450049 2013 MicroRNA23a and microRNA23b deregulation derepresses SF-1 and upregulates estrogen signaling in ovarian endometriosis.
23313103 2013 POD-1 binding to the E-box sequence inhibits SF-1 and StAR expression in human adrenocortical tumor cells.
23299922 2013 Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males.
23291911 2013 Genetic and epigenetic alterations of steroidogenic factor?1 in ovarian tumors.
23218904 2013 Malignant tumors with clear cell morphology: a comparative immunohistochemical study with renal cell carcinoma antibody, Pax8, steroidogenic factor 1, and brachyury.
23165333 2013 Evaluation of SF-1 expression in testicular germ cell tumors: a tissue microarray study of 127 cases.
23158211 2013 Diagnostic and prognostic role of steroidogenic factor 1 in adrenocortical carcinoma: a validation study focusing on clinical and pathologic correlates.
23154282 2012 The p.G146A and p.P125P polymorphisms in the steroidogenic factor-1 (SF-1) gene do not affect the risk for hypospadias in Caucasians.
23153500 2013 NR5A1 (SF-1) gene variants in a group of 26 young women with XX primary ovarian insufficiency.
23096908 2012 Mutations in NR5A1 and PIN1 associated with idiopathic hypogonadotropic hypogonadism.
23095176 2013 A report of two novel NR5A1 mutation families: possible clinical phenotype of psychiatric symptoms of anxiety and/or depression.
23044873 2012 Steroidogenic factor-1 and human disease.
22987798 2013 Genetic labeling of steroidogenic factor-1 (SF-1) neurons in mice reveals ventromedial nucleus of the hypothalamus (VMH) circuitry beginning at neurogenesis and development of a separate non-SF-1 neuronal cluster in the ventrolateral VMH.
22951804 2012 Mutational screening of SF1 and WNT4 in Tunisian women with premature ovarian failure.
22927646 2012 Acid ceramidase (ASAH1) represses steroidogenic factor 1-dependent gene transcription in H295R human adrenocortical cells by binding to the receptor.
22907560 2012 Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred.
22832114 2013 SALL4 and SF-1 are sensitive and specific markers for distinguishing granulosa cell tumors from yolk sac tumors.
22715467 2012 Direct modification and activation of a nuclear receptor-PIP? complex by the inositol lipid kinase IPMK.
22553814 2012 The use of immunohistochemical expression of SF-1 and EMA in distinguishing adrenocortical tumors from renal neoplasms.
22549935 2012 Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals.
22474171 2012 Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations.
22427816 2012 Knockdown of SF-1 and RNF31 affects components of steroidogenesis, TGF?, and Wnt/?-catenin signaling in adrenocortical carcinoma cells.
22218443 2011 Multifunctional role of steroidogenic factor 1 and disorders of sex development.
22100173 2012 Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI).
22028768 2011 Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias.
22024498 2012 SF-1 expression during adrenal development and tumourigenesis.
21926385 2011 Hypermethylation of the CpG island spanning from exon II to intron III is associated with steroidogenic factor 1 expression in stromal cells of endometriosis.
21775434 2011 Crystal structure of Fushi tarazu factor 1 ligand binding domain/Fushi tarazu peptide complex identifies new class of nuclear receptors.
21693691 2011 SOX9 and SF1 are involved in cyclic AMP-mediated upregulation of anti-Mullerian gene expression in the testicular prepubertal Sertoli cell line SMAT1.
21467194 2011 Coactivation of SF-1-mediated transcription of steroidogenic enzymes by Ubc9 and PIAS1.
21412441 2011 Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations.
21324456 2011 The steroidogenic factor-1 protein is not expressed in various forms of endometriosis but is strongly present in ovarian cortical or medullary mesenchymatous cells adjacent to endometriotic foci.
21242195 2011 Identification of novel SRY mutations and SF1 (NR5A1) changes in patients with pure gonadal dysgenesis and 46,XY karyotype.
21239516 2011 Sterol O-acyltransferase 1 (SOAT1, ACAT) is a novel target of steroidogenic factor-1 (SF-1, NR5A1, Ad4BP) in the human adrenal.
21220346 2011 Loss-of-function mutation in GATA4 causes anomalies of human testicular development.
21164257 2011 Role of DAX-1 (NR0B1) and steroidogenic factor-1 (NR5A1) in human adrenal function.
21163858 2011 ChIP-on-chip analysis reveals angiopoietin 2 (Ang2, ANGPT2) as a novel target of steroidogenic factor-1 (SF-1, NR5A1) in the human adrenal gland.
21163476 2011 Predominant Sertoli cell deficiency in a 46,XY disorders of sex development patient with a new NR5A1/SF-1 mutation transmitted by his unaffected father.
21129436 2011 Differentiation of mesenchymal stem cells and embryonic stem cells into steroidogenic cells using steroidogenic factor-1 and liver receptor homolog-1.
21111025 2011 SF-1 in the ventral medial hypothalamic nucleus: a key regulator of homeostasis.
21081692 2011 Transcription of LIPE gene encoding hormone-sensitive lipase/cholesteryl esterase is regulated by SF-1 in human adrenocortical cells: involvement of protein kinase A signal transduction pathway.
21078366 2011 Steroidogenic factor-1 (SF-1, NR5A1) and human disease.
20887963 2010 Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1.
20875752 Elementary studies on elevated steroidogenic factor-1 expression in aldosterone-producing adenoma.
20861607 2011 Three new SF-1 (NR5A1) gene mutations in two unrelated families with multiple affected members: within-family variability in 46,XY subjects and low ovarian reserve in fertile 46,XX subjects.
20660055 2010 High diagnostic and prognostic value of steroidogenic factor-1 expression in adrenal tumors.
20601698 2010 Identification of a novel distal control region upstream of the human steroidogenic acute regulatory protein (StAR) gene that participates in SF-1-dependent chromatin architecture.
20498720 2010 SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1.
20453312 2010 Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study.
20394914 2010 NR5A1/SF-1 and development and function of the ovary.
20302644 2010 Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration.
20207836 2010 FOXL2 interacts with steroidogenic factor-1 (SF-1) and represses SF-1-induced CYP17 transcription in granulosa cells.
20133449 2010 PPAR-gamma coactivator-1alpha regulates progesterone production in ovarian granulosa cells with SF-1 and LRH-1.
20080844 2010 Steroidogenic factor 1 overexpression and gene amplification are more frequent in adrenocortical tumors from children than from adults.
20045459 2010 Human steroidogenic factor-1 (hSF-1) regulates progesterone biosynthesis and growth of ovarian surface epithelial cancer cells.
20026603 2010 Farnesoid X receptor, through the binding with steroidogenic factor 1-responsive element, inhibits aromatase expression in tumor Leydig cells.
19930843 Expression of steroidogenic factor 1 (SF-1) and steroidogenic acute regulatory protein (StAR) in endometriosis is associated with endometriosis severity.
19878766 2009 [SF-1, a key player in adrenal and gonadal differentiation: implications in gonadal dysgenesis and primary ovarian insufficiency].
19875956 2010 Steroidogenic factor-1 expression in ovarian endometriosis.
19849982 2009 [NR5A1 and ovarian failure].
19692572 2009 Transcriptional Suppression by Transient Recruitment of ARIP4 to Sumoylated nuclear receptor Ad4BP/SF-1.
19549922 2009 Stimulating the GPR30 estrogen receptor with a novel tamoxifen analogue activates SF-1 and promotes endometrial cell proliferation.
19439508 2009 The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency.
19246354 2009 Mutations in NR5A1 associated with ovarian insufficiency.
19237537 2009 E3 ubiquitin ligase RNF31 cooperates with DAX-1 in transcriptional repression of steroidogenesis.
19022561 2009 The nuclear receptors SF1 and LRH1 are expressed in endometrial cancer cells and regulate steroidogenic gene transcription by cooperating with AP-1 factors.
19015234 2009 SUMOylation inhibits SF-1 activity by reducing CDK7-mediated serine 203 phosphorylation.
19001523 2009 Prostaglandin E2 via steroidogenic factor-1 coordinately regulates transcription of steroidogenic genes necessary for estrogen synthesis in endometriosis.
18984668 2009 CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease.
18974272 2009 Differential effects of high and low steroidogenic factor-1 expression on CYP11B2 expression and aldosterone production in adrenocortical cells.
18824868 2008 Usefulness of transcription factors Ad4BP/SF-1 and DAX-1 as immunohistologic markers for diagnosis of advanced adrenocortical carcinoma.
18665078 2008 Differential expression of steroidogenic factors 1 and 2, cytochrome p450scc, and steroidogenic acute regulatory protein in human pancreas.
18653709 2008 Deoxyribonucleic acid methylation controls cell type-specific expression of steroidogenic factor 1.
18579725 2008 Identification of NR5A1 (SF-1/AD4BP) gene expression modulators by large-scale gain and loss of function studies.
18182853 2007 EID-1 interacts with orphan nuclear receptor SF-1 and represses its transactivation.
18165439 2008 Upstream stimulatory factor-2 regulates steroidogenic factor-1 expression in endometriosis.
17975261 2007 Steroidogenic factor 1/adrenal 4 binding protein transforms human bone marrow mesenchymal cells into steroidogenic cells.
17940071 2007 Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study.
17901130 2008 Phosphorylation of steroidogenic factor 1 is mediated by cyclin-dependent kinase 7.
17786540 2008 SMAD3 inhibits SF-1-dependent activation of the CYP17 promoter in H295R cells.
17761949 2007 Increased steroidogenic factor-1 dosage triggers adrenocortical cell proliferation and cancer.
17694559 2008 Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency.
17664281 2007 Cyclic AMP-stimulated interaction between steroidogenic factor 1 and diacylglycerol kinase theta facilitates induction of CYP17.
17520059 2007 Atrazine-induced aromatase expression is SF-1 dependent: implications for endocrine disruption in wildlife and reproductive cancers in humans.
17519303 2007 Transcriptional activation of steroidogenic factor-1 by hypomethylation of the 5' CpG island in endometriosis.
17488792 2007 Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome.
17474147 2007 Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening.
17331471 2007 Herbicide atrazine activates SF-1 by direct affinity and concomitant co-activators recruitments to induce aromatase expression via promoter II.
17226773 2007 Transcriptional regulation of human Oct4 by steroidogenic factor-1.
17210646 2007 Cyclic AMP stimulates SF-1-dependent CYP11A1 expression through homeodomain-interacting protein kinase 3-mediated Jun N-terminal kinase and c-Jun phosphorylation.
17200175 2007 Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.
16887917 2006 Sphingosine regulates the transcription of CYP17 by binding to steroidogenic factor-1.
16834661 2006 Role of transcription factors Ad4bp/SF-1 and DAX-1 in steroidogenesis and spermatogenesis in human testicular development and idiopathic azoospermia.
16816804 2006 Steroidogenic factor-1 (SF-1) and its relevance to pediatric endocrinology.
16709599 2006 Dosage-sensitive sex reversal adrenal hypoplasia congenita critical region on the X chromosome, gene 1 (DAX1) (NR0B1) and small heterodimer partner (SHP) (NR0B2) form homodimers individually, as well as DAX1-SHP heterodimers.
16684822 2006 Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.
16595694 2006 Orphan nuclear receptor Nur77 induces zinc finger protein GIOT-1 gene expression, and GIOT-1 acts as a novel corepressor of orphan nuclear receptor SF-1 via recruitment of HDAC2.
16564598 2006 The Gly146Ala variation in human SF-1 gene: its association with insulin resistance and type 2 diabetes in Chinese.
16500365 2006 Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor-1.
16469813 2006 Indirect regulation of human dehydroepiandrosterone sulfotransferase family 1A member 2 by thyroid hormones.
16127213 2005 Association of severe micropenis with Gly146Ala polymorphism in the gene for steroidogenic factor-1.
15897460 2005 The crystal structures of human steroidogenic factor-1 and liver receptor homologue-1.
15879363 2005 Clinical and molecular evidence for DAX-1 inhibition of steroidogenic factor-1-dependent ACTH receptor gene expression.
15831526 2005 Regulation of cytochrome b5 gene transcription by Sp3, GATA-6, and steroidogenic factor 1 in human adrenal NCI-H295A cells.
15707893 2005 Structural analyses reveal phosphatidyl inositols as ligands for the NR5 orphan receptors SF-1 and LRH-1.
15666825 2004 Generation and characterization of human steroidogenic factor 1 LBD crystals with and without bound cofactor peptide.
15579738 2004 Of mice and men: The tale of steroidogenic factor-1.
15546904 2005 Amplification of the steroidogenic factor 1 gene in childhood adrenocortical tumors.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15471945 2005 LBP proteins modulate SF1-independent expression of P450scc in human placental JEG-3 cells.
15388788 2005 Steroid sulfotransferase 2A1 gene transcription is regulated by steroidogenic factor 1 and GATA-6 in the human adrenal.
15379426 2004 Congenital adrenal hypoplasia and male pseudohermaphroditism due to DAX1 mutation, SF1 mutation or neither: a patient report.
15261303 2004 Steroidogenic factor 1 differentially regulates basal and inducible steroidogenic gene expression and steroid synthesis in human adrenocortical H295R cells.
15192080 2004 Small ubiquitin-like modifier 1 (SUMO-1) modification of the synergy control motif of Ad4 binding protein/steroidogenic factor 1 (Ad4BP/SF-1) regulates synergistic transcription between Ad4BP/SF-1 and Sox9.
15164053 2004 DNA sequence and analysis of human chromosome 9.
15044589 2004 Generation of two distinct functional isoforms of dosage-sensitive sex reversal-adrenal hypoplasia congenita-critical region on the X chromosome gene 1 (DAX-1) by alternative splicing.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14701856 2004 Transcription factors and nuclear receptors interact with the SWI/SNF complex through the BAF60c subunit.
14623279 2003 Functional characterization of a new human Ad4BP/SF-1 variation, G146A.
14580722 2003 WT1 and DAX-1 regulate SF-1-mediated human P450arom gene expression in gonadal cells.
14555713 2004 Protein kinase A potentiates adrenal 4 binding protein/steroidogenic factor 1 transactivation by reintegrating the subcellular dynamic interactions of the nuclear receptor with its cofactors, general control nonderepressed-5/transformation/transcription domain-associated protein, and suppressor, dosage-sensitive sex reversal-1: a laser confocal imaging study in living KGN cells.
12920234 2003 Cloning and characterization of a novel zinc finger protein that modulates the transcriptional activity of nuclear receptors.
12907682 2003 A mutated form of steroidogenic factor 1 (SF-1 G35E) that causes sex reversal in humans fails to synergize with transcription factor GATA-4.
12843196 2003 Immunolocalization of nuclear transcription factors, DAX-1 and COUP-TF II, in the normal human ovary: correlation with adrenal 4 binding protein/steroidogenic factor-1 immunolocalization during the menstrual cycle.
12782406 2003 Characterization of receptor-interacting protein RIP140 in the regulation of SF-1 responsive target genes.
12732652 2003 SOX8 is expressed during testis differentiation in mice and synergizes with SF1 to activate the Amh promoter in vitro.
12730328 2003 Nuclear factor Y and steroidogenic factor 1 physically and functionally interact to contribute to cell-specific expression of the mouse Follicle-stimulating hormone-beta gene.
12727988 2003 Down-regulation of steroidogenic response to gonadotropins in human and rat preovulatory granulosa cells involves mitogen-activated protein kinase activation and modulation of DAX-1 and steroidogenic factor-1.
12651892 2003 Tpit determines alternate fates during pituitary cell differentiation.
12554773 2003 Dax-1 (dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X chromosome, gene 1) gene transcription is regulated by wnt4 in the female developing gonad.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12161505 2002 Spatially heterogeneous expression of aromatase P450 through promoter II is closely correlated with the level of steroidogenic factor-1 transcript in endometrioma tissues.
12101186 2002 The transcriptional regulating protein of 132 kDa (TReP-132) enhances P450scc gene transcription through interaction with steroidogenic factor-1 in human adrenal cells.
12083815 2002 Adrenal hypoplasia congenita with multiple pituitary hormone deficiency without documented mutation in DAX1 or SF1 gene.
12083805 2002 The role of SF1 in adrenal and reproductive function: insight from naturally occurring mutations in humans.
11932325 2002 Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner.
11932209 2002 Differential regulation of aldosterone synthase and 11beta-hydroxylase transcription by steroidogenic factor-1.
11897684 2002 Transcriptional activation of human CYP17 in H295R adrenocortical cells depends on complex formation among p54(nrb)/NonO, protein-associated splicing factor, and SF-1, a complex that also participates in repression of transcription.
11886523 2001 Transcriptional regulators of steroidogenesis, DAX-1 and SF-1, are expressed in human skin.
11738790 2001 Phenotypic spectrum of mutations in DAX-1 and SF-1.
11592817 Expression profiles of COUP-TF, DAX-1, and SF-1 in the human adrenal gland and adrenocortical tumors: possible implications in steroidogenesis.
11574675 2001 PNRC2 is a 16 kDa coactivator that interacts with nuclear receptors through an SH3-binding motif.
11518799 2001 AR suppresses transcription of the LHbeta subunit by interacting with steroidogenic factor-1.
11479297 2001 Acetylation of steroidogenic factor 1 protein regulates its transcriptional activity and recruits the coactivator GCN5.
11459805 2001 RIP 140 modulates transcription of the steroidogenic acute regulatory protein gene through interactions with both SF-1 and DAX-1.
11071856 2000 Identification of novel first exons in Ad4BP/SF-1 (NR5A1) gene and their tissue- and species-specific usage.
11038323 2000 Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency.
10919277 2000 Sp1 and SF-1 interact and cooperate in the regulation of human steroidogenic acute regulatory protein gene expression.
10848616 2000 Orphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNA.
10684809 2000 Expression of steroidogenic factor 1 in the testis requires an E box and CCAAT box in its promoter proximal region.
10567391 1999 The role of human MBF1 as a transcriptional coactivator.
10478848 1999 Function of steroidogenic factor 1 domains in nuclear localization, transactivation, and interaction with transcription factor TFIIB and c-Jun.
10446911 1999 Transcription factor GATA-4 enhances Müllerian inhibiting substance gene transcription through a direct interaction with the nuclear receptor SF-1.
10369682 1999 Ptx1 regulates SF-1 activity by an interaction that mimics the role of the ligand-binding domain.
10369247 1999 A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans.
10230405 1999 Phosphorylation of the nuclear receptor SF-1 modulates cofactor recruitment: integration of hormone signaling in reproduction and stress.
9774680 1998 Direct interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-Müllerian hormone gene.
9590178 1998 Wilms' tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression.
9328345 1997 The activation function-2 hexamer of steroidogenic factor-1 is required, but not sufficient for potentiation by SRC-1.
9238716 1996 Expression of steroidogenic factor-1 (SF-1) mRNA and protein in the human placenta.
9183568 1997 Steroidogenic factor 1: a key determinant of endocrine development and function.
9177385 1997 Steroidogenic factor 1 messenger ribonucleic acid expression in steroidogenic and nonsteroidogenic human tissues: Northern blot and in situ hybridization studies.
9002548 1996 Ad4BP/SF-1, a transcription factor essential for the transcription of steroidogenic cytochrome P450 genes and for the establishment of the reproductive function.
8964846 1996 The transcription activator steroidogenic factor-1 is preferentially expressed in the human pituitary gonadotroph.
8938589 1996 Cloning and sequence analysis of the human gene encoding steroidogenic factor 1.
8806624 1996 Structural characterization of human Ad4bp (SF-1) gene.
8205615 1994 Nuclear receptor steroidogenic factor 1 regulates the müllerian inhibiting substance gene: a link to the sex determination cascade.
7789992 1995 Homologs of Drosophila Fushi-Tarazu factor 1 map to mouse chromosome 2 and human chromosome 9q33.
7629233 1995 Ad4BP in the human adrenal cortex and its disorders.
7479914 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.