NR5A1 Antibody
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中文名稱：NR5A1兔多克隆抗體
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貨號：CSB-PA016065GA01HU
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規(guī)格：￥3,900
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其他：
產(chǎn)品詳情
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Uniprot No.：
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基因名：NR5A1
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別名：NR5A1; AD4BP; FTZF1; SF1; Steroidogenic factor 1; SF-1; STF-1; hSF-1; Adrenal 4-binding protein; Fushi tarazu factor homolog 1; Nuclear receptor subfamily 5 group A member 1; Steroid hormone receptor Ad4BP
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宿主：Rabbit
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反應(yīng)種屬：Human,Mouse,Rat
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免疫原：Human NR5A1
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免疫原種屬：Homo sapiens (Human)
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抗體亞型：IgG
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純化方式：Antigen Affinity purified
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濃度：It differs from different batches. Please contact us to confirm it.
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保存緩沖液：PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
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產(chǎn)品提供形式：Liquid
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應(yīng)用范圍：ELISA,WB,IHC
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Protocols：
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儲存條件：Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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貨期：Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
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用途：For Research Use Only. Not for use in diagnostic or therapeutic procedures.
產(chǎn)品評價
相關(guān)產(chǎn)品
靶點詳情
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功能：Transcriptional activator. Essential for sexual differentiation and formation of the primary steroidogenic tissues. Binds to the Ad4 site found in the promoter region of steroidogenic P450 genes such as CYP11A, CYP11B and CYP21B. Also regulates the AMH/Muellerian inhibiting substance gene as well as the AHCH and STAR genes. 5'-YCAAGGYC-3' and 5'-RRAGGTCA-3' are the consensus sequences for the recognition by NR5A1. The SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional activity. Binds phosphatidylcholine. Binds phospholipids with a phosphatidylinositol (PI) headgroup, in particular PI(3,4)P2 and PI(3,4,5)P3. Activated by the phosphorylation of NR5A1 by HIPK3 leading to increased steroidogenic gene expression upon cAMP signaling pathway stimulation.
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基因功能參考文獻：
- The findings stress the importance of G35 residue for adrenal development. The current observation also suggests that some patients with SF1 deficiency may present with transient adrenal failure. PMID: 29151085
- none of the NR5A1 mutations reported to be associated with male infertility were found in our study, except one polymorphism, rs1110061. However, it was not significantly different between infertile and fertile groups. In addition, we have identified six intronic variants; but none of them was significantly associated with male infertility. PMID: 29265478
- In vitro functional analyses demonstrate impaired transactivation by NR5A1 mutations found in patients with 46,XY disorders of sex development. PMID: 29027717
- This study adds nine novel pathogenic NR5A1 variants to the pool of diagnostic variants. It highlights a greater need for understanding the complexity of SF1 function and the additional factors that contribute. PMID: 29027299
- rete ovarii were positive for PAX-8, weakly positive for SF-1, and negative for PAX-2 and GATA-3 PMID: 26352548
- SF1 was the only specific marker of uterine tumour resembling ovarian sex cord-stromal tumour PMID: 27311867
- this study identified a novel regulatory circuit for ovarian AMH production; specifically, through the coordinated interplay between FOXL2 and SF-1 that could control ovarian follicle development. PMID: 27414805
- We provide new evidence of this involvement, describing a novel heterozygous non-sense NR5A1 mutation in a 46,XY-DSD with polysplenia female proband and her father, who had hypospadias and asplenia. PMID: 28032338
- Results identified a novel heterozygous NR5A1 mutation, c.274C>T p.(Arg92Trp), in three unrelated patients with 46,XX (ovo)testicular disorders of sex development (DSD). Transcriptomics in patient-derived lymphocytes showed upregulation of MAMLD1, a direct NR5A1 target previously associated with 46,XY DSD. This study proposes NR5A1 as a novel gene for 46,XX (ovo)testicular DSD. PMID: 27490115
- The results raise the possibility that specific mutations in NR5A1 underlie testicular development in genetic females. PMID: 27610946
- Manipulating steroidogenic factor-1 (SF-1) and nucleotide exchange factor VAV-2 (VAV2) abundance in cultured adrenocortical carcinoma (ACC) cells indicate that VAV2 was a critical factor for SF-1-induced cytoskeletal remodeling and invasion in culture and in vivo (chicken chorioallantoic membrane) models. PMID: 28270555
- Ten novel heterozygous NR5A1 mutations were identified in 46,XY DSD patients, including five nonsynonymous variants (p.Gly26Glu, p.Thr29Arg, p.Trp302Cys, p.Ala340Val, p.Leu358Pro), four stop-gain variants (p.Tyr211*, p.Cys247*, p.Tyr404*, p.Cys412*), and one frameshift variant (p.Glu395del) PMID: 28033660
- we show that a specific recurrent heterozygous missense mutation (p.Arg92Trp) in the accessory DNA-binding region of NR5A1 is associated with variable degree of testis development in 46,XX children and adults from four unrelated families PMID: 27378692
- we review genetic data generated through large-scale sequencing approaches that are changing our view of how this system works, including the recently described recurrent NR5A1 p.R92W mutation associated with testis development in 46,XX children PMID: 27893151
- The NR5A1 p.Arg92Gln variant, which has thus far only been seen in a family with 46,XY Disorder of Sex Development, most likely contributes to the ovotesticular Disorder of Sex Development in this case. PMID: 27855412
- Data suggest that the first screening step diagnosis for pituitary adenoma was determined based upon immunohistochemical (IHC) scores for Pit-1, SF-1, and ACTH. PMID: 27227698
- We analysed a Pakistani cohort of patients with 46,XY disorders of sex development (DSD), presenting with variable degrees of gonadal dysgenesis, for NR5A1 mutations. The study identified three mutations (p.Tyr03X, p.Glu07X and p.Gln299HisfsX386), of which two are novel, in these patients with 46,XY DSD. PMID: 26260161
- this is the first report of the NR5A1 splice site mutation, which was proven to be deleterious by the RT-PCR method. PMID: 26406169
- SF1 SNPs are associated with serum uric acid levels in Chinese males and females. PMID: 25283508
- 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. PMID: 26200099
- 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. PMID: 22927646
- SF-1 expression was inhibited by miR23a/b overexpression in eutopic endometrial stromal cells(ESCs) and upregulated by miR23a/b inhibition in normal ESCs. PMID: 23450049
- Although the ventromedial nucleus of the hypothalamus shares a common lineage, it further differentiates into a neuronal cluster devoid of steroidogenic factor (SF)-1. PMID: 22987798
- No nuclear SF-1 expression was identified in any of the 127 germ cell tumors PMID: 23165333
- Aberrant SF-1 expression was significantly higher in ovarian sex cord stromal tumors than that of ovarian cancer. PMID: 25604140
- DAX1 and SF1 expression positively correlated in pediatric adrenocortical tumors, suggesting that these transcription factors might cooperate in adrenocortical tumorigenesis. PMID: 25985323
- genetic defects of NR5A1 should be considered as an etiology in subjects with 46,XY DSD without adrenal insufficiency. PMID: 26139438
- In vitro, SF-1 mutations affect not only steroidogenesis but also transcription of BDNF which is involved in energy balance PMID: 25122490
- 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 PMID: 25502990
- 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. PMID: 24750329
- 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. PMID: 25099250
- Mutations in NR5A1 were associated with male factor infertility, especially when associated with history of cryptorchidism. PMID: 25989977
- analysis of how signaling phospholipid PIP3 creates a new interaction surface on the nuclear receptor SF-1 PMID: 25288771
- 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. PMID: 24067197
- NR5A1 gene mutations are a relatively frequent cause of 46,XY disorders of sex development in humans. PMID: 24434652
- 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. PMID: 24531914
- MiR-320 regulates the expression and functions of E2F1 and SF-1 in Polycystic Ovary Syndrome patients. PMID: 24828505
- A strong correlation is identified between steroidogenic factor 1 expression in endometrial cells and association with intron 1. PMID: 23899549
- 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. PMID: 23729601
- C/EBPbeta is an important mediator of progesterone production by working together with SF-1, especially under tropic hormone-stimulated conditions PMID: 24635384
- 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. PMID: 24905461
- 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. PMID: 24591553
- This result indicates that SALL4 and SF-1 could be used to distinguish Granulosa cell and yolk sac tumors PMID: 22832114
- 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. PMID: 23918653
- 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 PMID: 23969951
- Mutations altering SF1 protein function and causing spermatogenic failure are also found in men of German origin with severe oligozoospermia. PMID: 23299922
- novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels PMID: 24405868
- The SF1 and SREBP1 activate DGKtheta; transcription in a cAMP-dependent manner in human adrenocortical cells. PMID: 23610160
- 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. PMID: 24012099
- 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. PMID: 23291911
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相關(guān)疾病：46,XY sex reversal 3 (SRXY3); 46,XX sex reversal 4 (SRXX4); Adrenal insufficiency, NR5A1-related (AINR); Premature ovarian failure 7 (POF7); Spermatogenic failure 8 (SPGF8)
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亞細胞定位：Nucleus.
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蛋白家族：Nuclear hormone receptor family, NR5 subfamily
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組織特異性：High expressed in the adrenal cortex, the ovary, the testis, and the spleen.
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