Steroidogenic Factor 1 è un gene codificato dal simbolo NR5A1. È noto anche come: SF-1; Adrenal 4-binding protein; Fushi tarazu factor homolog 1; Nuclear receptor subfamily 5 group A member 1; Steroid hormone receptor Ad4BP; NR5A1; AD4BP; FTZF1; SF1. Steroidogenic Factor 1 ha una massa di 51.64kDa, una lunghezza di amminoacidi di 461, ed è implicato nella malattia: 46,XY sex reversal 3; 46,XX sex reversal 4; Adrenal insufficiency, NR5A1-related; Premature ovarian failure 7; Spermatogenic failure 8.
Offriamo 13 anticorpi contro Steroidogenic Factor 1, allevati nel Coniglio e Topo, che sono adatti per WB, IHC, ELISA e ICC/IF con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
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.
Sommario di Entrez
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.
Specificità del tessuto
High expressed in the adrenal cortex, the ovary, the testis, and the spleen (PubMed:9177385).
Coinvolgimento nella malattia
46,XY sex reversal 3: A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype.
46,XX sex reversal 4: A condition in which male gonads develop in a genetic female (female to male sex reversal).
Adrenal insufficiency, NR5A1-related: 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: 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: An infertility disorder characterized by spermatogenesis failure and severe oligozoospermia.
Somiglianze di sequenza
Belongs to the nuclear hormone receptor family. NR5 subfamily.
Modifica post-translazionale
Acetylation stimulates the transcriptional activity.
Posizione cellulare
Nucleus.
