ID:STF1_HUMAN DESCRIPTION: RecName: Full=Steroidogenic factor 1; Short=SF-1; Short=STF-1; AltName: Full=Adrenal 4-binding protein; AltName: Full=Fushi tarazu factor homolog 1; AltName: Full=Nuclear receptor subfamily 5 group A member 1; AltName: Full=Steroid hormone receptor Ad4BP; FUNCTION: Transcriptional activator. Seems to be 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 avtivity. 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. SUBUNIT: Binds DNA as a monomer. Interacts with NR0B2 and PPARGC1A (By similarity). Part of a complex consisting of SFPQ, NONO and NR5A1. Interacts with NCOA2. Interacts with DGKQ and CDK7. Binds to and activated by HIPK3. SUBCELLULAR LOCATION: Nucleus. PTM: Acetylation stimulates the transcriptional activity. PTM: Sumoylation reduces CDK7-mediated phosophorylation on Ser- 203. PTM: Phosphorylated on Ser-203 by CDK7. This phosphorylation promotes transcriptional activity. DISEASE: Defects in NR5A1 are a cause of 46,XY sex reversal type 3 (SRXY3) [MIM:612965]. A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. DISEASE: Defects in NR5A1 are a cause of adrenocortical insufficiency without ovarian defect (ACIWOD) [MIM:184757]. ACIWOD is characterized by severe 'slackness' muscular hypotonia. There is decreased sodium, increased potassium and elevated ACTH. DISEASE: Defects in NR5A1 are the cause of premature ovarian failure type 7 (POF7) [MIM:612964]. 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. DISEASE: Defects in NR5A1 are the cause of spermatogenic failure type 8 (SPGF8) [MIM:613957]. SPGF8 is an infertility disorder characterized by spermatogenesis failure and severe oligozoospermia. SIMILARITY: Belongs to the nuclear hormone receptor family. NR5 subfamily. SIMILARITY: Contains 1 nuclear receptor DNA-binding domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q13285
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0003677 DNA binding GO:0003682 chromatin binding GO:0003690 double-stranded DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003707 steroid hormone receptor activity GO:0003713 transcription coactivator activity GO:0004879 RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding GO:0005515 protein binding GO:0005543 phospholipid binding GO:0008270 zinc ion binding GO:0008289 lipid binding GO:0019899 enzyme binding GO:0043565 sequence-specific DNA binding GO:0046872 metal ion binding
Biological Process: GO:0001553 luteinization GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0006366 transcription from RNA polymerase II promoter GO:0006367 transcription initiation from RNA polymerase II promoter GO:0007267 cell-cell signaling GO:0007530 sex determination GO:0007538 primary sex determination GO:0008584 male gonad development GO:0008585 female gonad development GO:0009755 hormone-mediated signaling pathway GO:0009888 tissue development GO:0010259 multicellular organism aging GO:0010628 positive regulation of gene expression GO:0022414 reproductive process GO:0030154 cell differentiation GO:0030325 adrenal gland development GO:0030522 intracellular receptor signaling pathway GO:0042445 hormone metabolic process GO:0043401 steroid hormone mediated signaling pathway GO:0045893 positive regulation of transcription, DNA-templated GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0050810 regulation of steroid biosynthetic process GO:0051457 maintenance of protein location in nucleus GO:0097210 response to gonadotropin-releasing hormone GO:0097720 calcineurin-mediated signaling GO:2000020 positive regulation of male gonad development GO:2000195 negative regulation of female gonad development
GeneReviews article(s) related to gene NR5A1: gonad-dys-46xy (Nonsyndromic Disorders of Testicular Development Overview) xxms (Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development)
Gene Model Information
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
