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- Table of Contents
Facts about Steroidogenic factor 1.
Binds to the Ad4 site located in the promoter region of steroidogenic P450 genes like CYP11A, CYP11B and CYP21B. Also regulates the AMH/Muellerian inhibiting substance gene as well as the AHCH and STAR genes.
Human | |
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Gene Name: | NR5A1 |
Uniprot: | Q13285 |
Entrez: | 2516 |
Belongs to: |
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nuclear hormone receptor family |
AD4BP; AD4BPSTF-1; Adrenal 4-binding protein; ELP; FTZ1adrenal 4 binding protein; FTZF1; FTZF1nuclear receptor AdBP4; Fushi tarazu factor homolog 1; NR5A1; Nuclear receptor subfamily 5 group A member 1; nuclear receptor subfamily 5, group A, member 1; SF1; SF-1; SF-1POF7; SF1steroidogenic factor 1; Steroid hormone receptor Ad4BP; steroidogenic factor-1
Mass (kDA):
51.636 kDA
Human | |
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Location: | 9q33.3 |
Sequence: | 9; NC_000009.12 (124481236..124507399, complement) |
High expressed in the adrenal cortex, the ovary, the testis, and the spleen (PubMed:9177385).
Nucleus.
Biological assays utilize antibodies to detect Steroidogenic element 1 in animal samples. Boster Bio uses rabbit and mouse to create antibodies to this marker. They then use the mouse and rabbit to test for antibodies against Steroidogenic factor 1. This article will examine some of the key features of the antibody and show how it can be used. It will also talk about the NR5A1 mutagenesis, and nuclear localization.
One of the most intriguing questions in gene therapy is how NR5A1 mutations affect the protein's nuclear localization. One study found that a mutation within the Cterminal A-box (Arg92) led to reduced transcriptional activities. Another study showed that a mutation of Arg92 in the C-terminal A-box, Arg92, affected the protein’s ability to form a hydrophobic bond with the deoxycytosinebase. Mutations in this area can cause abnormal hydrogen bonds to the DNA.
Although NR5A1 mutations may affect nuclear relocalization and cause XY sex reversal, adrenal failure, and other complications in some people, it is not common. Researchers discovered that the mutations are quite rare and can lead to pathogenicity. The mutations that occur in the proximal area of the gene’s first zirc finger affect the protein’s ability DNA binding sites to recognize.
Many roles are played by the NR5A1 gene, which affects DNA binding and transactivation. Several NR5A1 variants have been identified as pathogenic. This results in decreased gene therapy activity. Mutations in NR5A1 may lead to a variety of diseases. One study suggests that 46,XY DSD can affect the function of the protein.
Mutations in NR5A1 are responsible for a small proportion of female and male infertility. They are associated w/ impaired activation 2 target genes, AMh2a1a1 Several molecular mechanisms may explain the loss of germ cells in affected individuals. Researchers have identified several molecular mechanisms responsible for these mutations. Further studies are needed to determine the exact mechanisms causing these mutations.
NR5A1 has been shown to cause mild testicular disorders in men with severe spermatogenic impairment. In these cases, mild testicular dysgenesis may be a cause of male infertility. Additional testing may also be necessary if you have symptoms that are congruent with testosterone and gonadotropin levels. If these symptoms persist, the patient needs to seek further evaluation by a genetic counselor.
NR5A1 is a code for steroidogenic factors 1, a protein that is essential for steroidogenesis. Mutations of NR5A1 in steroidogenic factor 1, which can lead to severe spermatogenic problems in otherwise healthy males, can lead to spermatogenic failure. It has also been linked with XY gonadal disease, a condition characterized in male infertility as well as ovarian insufficiency.
The novel method of detecting Steroidogenic Factor 1, also known NR5A1/Ad4BP is a means of monitoring the status this nuclear receptor. This gene regulates several aspects steroidogenesis, including gonadal dysfunction and the synthesis steroid hormones. Mutations in the gene result in phenotypic abnormalities that affect gonadal and adrenal primordia.
Variations in NR5A1 may cause intersex genitals. NR5A1 mutations in women can cause ovarian dysfunction arrest. This gene accounts for about one percent of all ovarian disorders. Ovarian cancer is highly likely to occur if there are mutations in this gene.
NR5A1 expression was determined in adenoviral-infected bovine theca cells, which mimic the theca cell luteinization in vivo. Researchers used adenoviral vectors which overexpress NR5A1 in order to investigate its function. This has allowed researchers the opportunity to study mutants without activating functions.
The NR5A1 plasmid, a shuttle plasmid, was linearized with PmeI digest and purified using agarose ge gel electrophoresis. Eighty-one hundred nanograms to one hundred of the NR5A1 shuttle plasmid were electroporated into rec+E.coliBJ5183 cells using an AdEasy adenoviral Vector containing NR5A1. The Gene Pulser System of (GELS) was used to activate the cells. It operated at two hundred millivolts with twenty-five mF and a time constant that was 5 microseconds. After incubation at 37°C, the cells were transferred to kanamycin-containing plates.
The results were reproducible when LH-stimulated cells were placed incubated with NR5A1 expressing bovine theca cell line lines. LH was not able alter the NR5A1 induced expressions of STAR/INSL3 in cultures with LH. However, the LH-stimulated cultures of theca cells also yielded similar results.
NR5A1 serves many functions in the body. It regulates the transcription of many genes. It can also influence the differentiation and growth theca cells. The development of ovaries as well as adrenal glands is dependent on the three genes regulated NR5A1. This allows it to identify whether or not a patient has any steroidogenic element.
Scientists have made remarkable strides in the recent years to obtain high affinity primary antibodies that target NR5A1 gene. The NR5A1 genome contains regulatory elements as well as a binding element at K45. Scientists have used several methods to make antibodies specific for this target. Here are some examples. For more information, continue reading. The NR5A1 gene sequence contains approximately 340 amino acids.
The NR5A1 gene expression is found in leydig cell. LH/cAMP promotes NR4A1 synthesis. NR5A1 expression is found in the developing cell, but not in adulthood. Antibodies against this gene might be useful in identifying tumor cells. These monoclonal antibody recognize the NR5A1 genes. Follow the instructions to use them in your research.
Both sexes have the NR5A1 gene. The gene encodes a nuclear protein called Steroidogenic factor-1 (Sf-1). It regulates many aspects of reproductive and adrenal development. The deletion of the NR5A1 genes causes impaired adrenal development, complete genitalia dysgenesis, and female external genitalia. Initial human studies focused on 46 individuals with combined adrenogonadal and renal failure. But over the past decade, two cases of NR5A1 mutations have been reported.
TrpRS from human is expressed and purified. The protein is extracellularly translocated after it is activated by IFN.g. TrpRS binds and stimulates cellular high affinity Trp uptake. Trp uptake becomes inhibited when the temperature drops. This suggests that TrpRS might be involved in Trp cellular uptake.
NR5A1 acts as a transcriptional activator and is crucial in the regulation of steroidogenic genetics. It regulates gene expression such as Cyp11a1, AHCH or STAR. This protein also regulates CYP17's cAMP-dependent transcriptional activity and basal activity. This protein also binds phosphatidolipids containing PI headsgroups.
The ELISA antibodies and kits were prepared using antiTNF a antibodies and rabbit anti–active caspase-3 antibodies. These antibodies had a sensitivity level of 1 picogram. The Nikon DXM12000F microscope was used to visualize the testes. The Boster Biologicals ELISA Kits and Antibodies are designed for the detection of biomarkers in a variety fields, including inflammation or cancer.
After RNA extraction, total protein content was determined using RIPA buffer (50 mg Tris-HCLPH 7.4, 150 mg NaCl, 1% NPN, and 0.1%). After that, 20 mg protein was transferred onto a PVDF membrane. Image J was used to analyze the data. It is important for you to know that the Boster Bio NR5A1 luciferase reporter plasmid is compatible with the Boster Bio NR5A1.
TIF is a complex regulatory network that ties the gene TIFA together. The miRNAs target a number of core miRNAs, including mmp-8. These miRNAs might regulate TIFA's gene expression by regulating their target genomes. This is a great method to identify and assess the biological functions of NR5A1.
Moreover, the Boster Bio NR5A1 in vivo assays were designed to measure cellular activity. High-scoring cells are derived from two postnatal stages. RNA-based assays may be used to monitor brain function in a variety of clinical settings. It is an excellent tool for evaluating effects of pharmaceutical drug on brain health.
PMID: 8806624 by Oba K., et al. Structural characterization of human Ad4bp (SF-1) gene.
PMID: 8938589 by Wong M., et al. Cloning and sequence analysis of the human gene encoding steroidogenic factor 1.