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Validated All-in-One™ qPCR Primer for NR5A1(NM_004959.5) Search again
Product ID:
HQP154028
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
AD4BP, ELP, FTZ1, FTZF1, POF7, SF-1, SF1, SPGF8, SRXX4, SRXY3, hSF-1
Gene Description:
nuclear receptor subfamily 5 group A member 1
Target Gene Accession:
NM_004959.5(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Summary
The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. [provided by RefSeq].
Gene References into function
- 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]
- important regulators of steroidogeneisis are present in human skin and its appendages.
- Differential regulation of aldosterone synthase and 11beta-hydroxylase transcription by steroidogenic factor-1.
- 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.
- steroidogenic factor 1 mutations in primary adrenal failure and 46,XY sex-reversal
- adrenal hypoplasia congenita and multiple pituitary hormone deficiency without mutations in the DAX1 or SF1 genes
- SF1 plays a role in regulating p450scc expression with TReP-132 and CBP/p300
- Spatially heterogeneous expression of aromatase P450 through promoter II is closely correlated with the level of steroidogenic factor-1 transcript in endometrioma tissues.
- 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
- 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.
- Protein kinse A signal pathway may modify the interaction between Ad4BP/SF-1 and its activators and repressors.
- We report the first functional characterization of a new variation found in the hinge region of human Ad4BP/SF-1, G146A
- 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
- It is revealed with an in vitro sumoylated Ad4BP/SF-1 that DNA binding activity and interaction with Sox9 are unaffected.
- SF1 has a role in basal expression of ACTH receptor and its induction by potassium and cAMP
- It remains probable that this unusual patient has either a DAX1 or SF1 mutation defect. A Wnt-4 defect was not evaluated.
- Both SF1 and GATA-6 were positive regulators of Steroid sulfotransferase 2A1 promoter constructs
- 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
- Increased copy number of the SF-1 gene in adrenocortical tumorigenesis.
- 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.
- 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.
- Human SF-1 receptor binds phosphatidyl inositol second messengers;ligand binding is required for maximal activity.
- cytochrome b5 gene transcription is regulated by Sp3, GATA-6, and steroidogenic factor 1 in human adrenal NCI-H295A cells
- 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
- 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
- the SULT2A1 gene is mediated by SF1 and indirectly regulated by T(3)
- 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.
- The SF-1 Gly146Ala variation may constitute a susceptible factor for development of type 2 diabetes and impairment of insulin actions.
- SF-1 trans-activation is repressed by GIOT-1
- 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
- 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
- Ad4bp/SF-1 is important for the maintenance of steroidogenesis in the human testis
- Sphingosine is a bonafide endogenous ligand for SF1 and a negative regulator of CYP17 gene expression.
- 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.
- atrazine binds to and activates SF-1 to induce aromatase gene expression via promoter II
- 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
- this is the first demonstration of methylation-dependent regulation of SF-1 in any mammalian tissue
- Atrazine-induced aromatase expression is SF-1 dependent: implications for endocrine disruption in wildlife and reproductive cancers in humans.
- Data show that cyclic AMP-stimulated interaction between steroidogenic factor 1 and diacylglycerol kinase theta facilitates induction of CYP17.
- SF1 mutations are a relatively frequent cause of 46,XY disorders of sex development in humans.
- reveal a critical role for SF-1 dosage in adrenocortical tumorigenesis
- SMAD3 dependent inactivation of CYP17 promoter activity and repression of SF-1 expression.
- Data revealed that SF1 and CDK7 reside in the same complex and SF1 was phosphorylated in vitro by CDK7.
- heterozygous partial loss of function mutations in SF1 may be associated with bilateral anorchia ('vanishing testis syndrome') and micropenis in humans
- Data show that steroidogenic factor 1/adrenal 4 binding protein transforms human bone marrow mesenchymal cells into steroidogenic cells.(
- 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.
- 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.
- A region within the SF1/Sf1 gene which epigenetically directs cell-specific expression of SF1.
- Differential expression of steroidogenic factors 1 and 2, cytochrome p450scc, and steroidogenic acute regulatory protein in the pancreas.
- 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
- 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.
- 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 promoter
- NR5A1 mutations are associated with 46,XX primary ovarian insufficiency and 46,XY disorders of sex development.