NR5A1 [The Human Chemical-Genetic Interaction Map Project]

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======= NR5A1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: NR5A1
  * **<color #00a2e8>Official Name</color>**: nuclear receptor subfamily 5 group A member 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2516|2516]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q13285|Q13285]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=NR5A1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20NR5A1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/184757|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  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. {ECO:0000250|UniProtKB:P33242, ECO:0000269|PubMed:17210646, ECO:0000269|PubMed:27378692, ECO:0000269|PubMed:28459839}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|zf-C4|
|Hormone recep|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|primary sex determination|
|negative regulation of female gonad development|
|negative regulation of gonad development|
|luteinization|
|positive regulation of male gonad development|
|response to gonadotropin-releasing hormone|
|regulation of male gonad development|
|positive regulation of gonad development|
|regulation of female gonad development|
|male sex determination|
|calcineurin-mediated signaling|
|regulation of gonad development|
|maintenance of protein location in nucleus|
|sex determination|
|adrenal gland development|
|multicellular organism aging|
|maintenance of protein localization in organelle|
|ovulation cycle process|
|nuclear receptor activity|
|steroid hormone receptor activity|
|negative regulation of reproductive process|
|ovulation cycle|
|RNA polymerase II transcription factor complex|
|maintenance of protein location in cell|
|transcription regulatory region sequence-specific DNA binding|
|positive regulation of reproductive process|
|female gonad development|
|regulation of steroid biosynthetic process|
|development of primary female sexual characteristics|
|maintenance of location in cell|
|RNA polymerase II distal enhancer sequence-specific DNA binding|
|phospholipid binding|
|maintenance of protein location|
|female sex differentiation|
|regulation of steroid metabolic process|
|steroid hormone mediated signaling pathway|
|endocrine system development|
|male gonad development|
|development of primary male sexual characteristics|
|calcium-mediated signaling|
|male sex differentiation|
|regulation of reproductive process|
|protein localization to nucleus|
|maintenance of location|
|intracellular receptor signaling pathway|
|hormone-mediated signaling pathway|
|transcription initiation from RNA polymerase II promoter|
|regulation of lipid biosynthetic process|
|cellular response to steroid hormone stimulus|
|hormone metabolic process|
|gonad development|
|DNA-templated transcription, initiation|
|development of primary sexual characteristics|
|sex differentiation|
|rhythmic process|
|aging|
|transcription coactivator activity|
|RNA polymerase II regulatory region sequence-specific DNA binding|
|response to steroid hormone|
|second-messenger-mediated signaling|
|enzyme binding|
|response to peptide hormone|
|chromatin binding|
|regulation of lipid metabolic process|
|gland development|
|sequence-specific DNA binding|
|reproductive structure development|
|reproductive system development|
|response to peptide|
|transcription by RNA polymerase II|
|cellular response to lipid|
|regulation of hormone levels|
|cellular response to organic cyclic compound|
|cellular response to hormone stimulus|
|transcription, DNA-templated|
|nucleic acid-templated transcription|
|RNA biosynthetic process|
|developmental process involved in reproduction|
|protein localization to organelle|
|multicellular organismal reproductive process|
|zinc ion binding|
|multicellular organism reproduction|
|response to lipid|
|response to hormone|
|response to organic cyclic compound|
|negative regulation of developmental process|
|response to organonitrogen compound|
|response to nitrogen compound|
|nucleobase-containing compound biosynthetic process|
|heterocycle biosynthetic process|
|aromatic compound biosynthetic process|
|negative regulation of multicellular organismal process|
|positive regulation of transcription by RNA polymerase II|
|cellular response to endogenous stimulus|
|organic cyclic compound biosynthetic process|
|positive regulation of developmental process|
|reproductive process|
|reproduction|
|DNA binding|
|response to endogenous stimulus|
|positive regulation of transcription, DNA-templated|
|response to oxygen-containing compound|
|DNA-binding transcription factor activity, RNA polymerase II-specific|
|cellular protein localization|
|cellular macromolecule localization|
|cellular nitrogen compound biosynthetic process|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|RNA metabolic process|
|intracellular signal transduction|
|cellular macromolecule biosynthetic process|
|positive regulation of RNA metabolic process|
|positive regulation of multicellular organismal process|
|tissue development|
|macromolecule biosynthetic process|
|positive regulation of nucleobase-containing compound metabolic process|
|positive regulation of macromolecule biosynthetic process|
|positive regulation of cellular biosynthetic process|
|positive regulation of gene expression|
|gene expression|
|positive regulation of biosynthetic process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp69|Deguelin 0.05μM R02 exp69]]|1.82|
|[[:results:exp317|Geldanamycin 0.015 to 0.05μM on day4 R07 exp317]]|1.88|
|[[:results:exp498|Lead acetate 2000μM R08 exp498 no dilution day6]]|2.08|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 4602
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -4.27 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='NR5A1 Expression in NALM6 Cells: -4.27'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>