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  • Rabbit Anti-NR5A1 Recombinant Antibody (CBXS-1288)

Rabbit Anti-NR5A1 Recombinant Antibody (CBXS-1288) (CBMAB-S4147-CQ)

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Datasheet
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Basic Information

Host Animal
Rabbit
Clone
CBXS-1288
Application
WB
Specificity
Mouse, Rat, Human
Antibody Isotype
IgG
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.
More Infomation

Target

Full Name
NR5A1
Introduction
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.
Entrez Gene ID
Human2516
Mouse26423
Rat83826
UniProt ID
HumanQ13285
MouseP33242
RatP50569
Alternative Names
Nuclear Receptor Subfamily 5 Group A Member 1; Steroid Hormone Receptor Ad4BP; Fushi Tarazu Factor Homolog 1; Steroidogenic Factor 1; FTZF1; AD4BP; STF-1; HSF-1; SF-1; SF1; Nuclear Receptor Subfamily 5, Group A, Member 1; Steroidogenic Factor 1 Nuclear Receptor;
Function
Transcriptional activator. Essential for sexual differentiation and formation of the primary steroidogenic tissues (PubMed:27378692).
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 (PubMed:27378692).
The SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional activity. Binds phosphatidylcholine (By similarity).
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.
Biological Process
Adrenal gland developmentIEA:Ensembl
Cell differentiationIEA:Ensembl
Female gonad developmentManual Assertion Based On ExperimentIMP:UniProtKB
Hormone metabolic processIEA:Ensembl
Hormone-mediated signaling pathwayManual Assertion Based On ExperimentIBA:GO_Central
LuteinizationIEA:Ensembl
Maintenance of protein location in nucleusIEA:Ensembl
Male gonad developmentManual Assertion Based On ExperimentIMP:UniProtKB
Male sex determinationManual Assertion Based On ExperimentIMP:BHF-UCL
Multicellular organism agingIEA:Ensembl
Negative regulation of female gonad developmentIEA:Ensembl
Positive regulation of gene expressionManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of male gonad developmentManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIMP:UniProtKB
Primary sex determinationManual Assertion Based On ExperimentTAS:ProtInc
Regulation of steroid biosynthetic processManual Assertion Based On ExperimentTAS:UniProtKB
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Sex determinationManual Assertion Based On ExperimentIMP:UniProtKB
Tissue developmentManual Assertion Based On ExperimentIBA:GO_Central
Cellular Location
Nucleus
Involvement in disease
46,XY sex reversal 3 (SRXY3):
A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype.
46,XX sex reversal 4 (SRXX4):
A condition in which male gonads develop in a genetic female (female to male sex reversal).
Adrenal insufficiency, NR5A1-related (AINR):
A disorder characterized by adrenal insufficiency, muscular hypotonia, decreased sodium and increased potassium levels, elevated ACTH, salt-wasting crisis, prolonged jaundice, hypoglycemia, and vomiting.
Premature ovarian failure 7 (POF7):
An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.
Spermatogenic failure 8 (SPGF8):
An infertility disorder characterized by spermatogenesis failure and severe oligozoospermia.
PTM
Acetylation stimulates the transcriptional activity.
Sumoylation reduces CDK7-mediated phosphorylation on Ser-203.
Phosphorylated on Ser-203 by CDK7. This phosphorylation promotes transcriptional activity.

Kouri, C., Sommer, G., de Lapiscina, I. M., Elzenaty, R. N., Tack, L. J., Cools, M., ... & Zelinska, N. (2024). Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development. EBioMedicine, 99.

Zhang, X., Wagner, S., Holleley, C. E., Deakin, J. E., Matsubara, K., Deveson, I. W., ... & Georges, A. (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, 119(4), e2116475119.

Fabbri-Scallet, H., Werner, R., Guaragna, M. S., de Andrade, J. G., Maciel-Guerra, A. T., Hornig, N. C., ... & de Mello, M. P. (2022). Can non-coding NR5A1 gene variants explain phenotypes of disorders of sex development?. Sexual Development, 16(4), 252-260.

Faienza, M. F., Chiarito, M., Baldinotti, F., Canale, D., Savino, C., Paradies, G., ... & Bertelloni, S. (2020). NR5A1 gene variants: variable phenotypes, new variants, different outcomes. Sexual Development, 13(5-6), 258-263.

Jaillard, S., Sreenivasan, R., Beaumont, M., Robevska, G., Dubourg, C., Knarston, I. M., ... & Sinclair, A. H. (2020). Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility. Maturitas, 131, 78-86.

Fabbri‐Scallet, H., de Sousa, L. M., Maciel‐Guerra, A. T., Guerra‐Júnior, G., & de Mello, M. P. (2020). Mutation update for the NR5A1 gene involved in DSD and infertility. Human mutation, 41(1), 58-68.

Morohashi, K. I., Inoue, M., & Baba, T. (2020). Coordination of multiple cellular processes by NR5A1/Nr5a1. Endocrinology and Metabolism, 35(4), 756-764.

Buonocore, F., Clifford-Mobley, O., King, T. F., Striglioni, N., Man, E., Suntharalingham, J. P., ... & Achermann, J. C. (2019). Next-generation sequencing reveals novel genetic variants (SRY, DMRT1, NR5A1, DHH, DHX37) in adults with 46, XY DSD. Journal of the Endocrine Society, 3(12), 2341-2360.

Knarston, I. M., Robevska, G., van den Bergen, J. A., Eggers, S., Croft, B., Yates, J., ... & Sinclair, A. H. (2019). NR5A1 gene variants repress the ovarian‐specific WNT signaling pathway in 46, XX disorders of sex development patients. Human mutation, 40(2), 207-216.

Liang, J., Wang, N., He, J., Du, J., Guo, Y., Li, L., ... & Kee, K. (2019). Induction of Sertoli-like cells from human fibroblasts by NR5A1 and GATA4. Elife, 8, e48767.

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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme Linked Immunospot (ELISpot)
Proteogenomic
Other Protocols

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For research use only. Not intended for any clinical use.

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