SMARCA4 [The Human Chemical-Genetic Interaction Map Project]

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======= SMARCA4 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: SMARCA4
  * **<color #00a2e8>Official Name</color>**: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=6597|6597]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P51532|P51532]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=SMARCA4&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20SMARCA4|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/603254|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST- dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth. SMARCA4/BAF190A may promote neural stem cell self-renewal/proliferation by enhancing Notch-dependent proliferative signals, while concurrently making the neural stem cell insensitive to SHH-dependent differentiating cues (By similarity). Acts as a corepressor of ZEB1 to regulate E-cadherin transcription and is required for induction of epithelial- mesenchymal transition (EMT) by ZEB1. {ECO:0000250|UniProtKB:Q3TKT4, ECO:0000269|PubMed:19571879, ECO:0000269|PubMed:20418909, ECO:0000303|PubMed:22952240, ECO:0000303|PubMed:26601204}.

<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'>
|Helicase C|
|SNF2 N|
|BRK|
|QLQ|
|HSA|
|Bromodomain|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|positive regulation of glucose mediated signaling pathway|
|regulation of glucose mediated signaling pathway|
|RNA polymerase I CORE element sequence-specific DNA binding|
|RNA polymerase I preinitiation complex assembly|
|Tat protein binding|
|positive regulation of transcription of nucleolar large rRNA by RNA polymerase I|
|npBAF complex|
|regulation of transcription of nucleolar large rRNA by RNA polymerase I|
|negative regulation of androgen receptor signaling pathway|
|nBAF complex|
|positive regulation by host of viral transcription|
|nucleosome disassembly|
|DNA polymerase binding|
|chromatin disassembly|
|SWI/SNF complex|
|lysine-acetylated histone binding|
|interleukin-7-mediated signaling pathway|
|protein-DNA complex disassembly|
|positive regulation of transcription by RNA polymerase I|
|regulation of androgen receptor signaling pathway|
|cellular response to interleukin-7|
|beta-catenin-TCF complex assembly|
|transcription preinitiation complex assembly|
|response to interleukin-7|
|positive regulation of pri-miRNA transcription by RNA polymerase II|
|regulation of transcription by RNA polymerase I|
|helicase activity|
|negative regulation of intracellular steroid hormone receptor signaling pathway|
|transcription initiation from RNA polymerase I promoter|
|transcription by RNA polymerase I|
|positive regulation of viral transcription|
|regulation of pri-miRNA transcription by RNA polymerase II|
|androgen receptor binding|
|nucleosomal DNA binding|
|DNA-dependent ATPase activity|
|neural retina development|
|regulation of viral transcription|
|p53 binding|
|modification by host of symbiont morphology or physiology|
|ATP-dependent chromatin remodeling|
|interaction with symbiont|
|regulation of intracellular steroid hormone receptor signaling pathway|
|RNA polymerase II distal enhancer sequence-specific DNA binding|
|protein N-terminus binding|
|positive regulation of viral process|
|modification of morphology or physiology of other organism involved in symbiotic interaction|
|retina development in camera-type eye|
|chromatin assembly or disassembly|
|modification of morphology or physiology of other organism|
|nucleosome organization|
|chromatin remodeling|
|positive regulation of Wnt signaling pathway|
|negative regulation of cell growth|
|protein-DNA complex assembly|
|regulation of viral process|
|DNA-templated transcription, initiation|
|regulation of symbiosis, encompassing mutualism through parasitism|
|nuclear chromatin|
|protein-containing complex disassembly|
|transcription corepressor activity|
|protein-DNA complex subunit organization|
|negative regulation of growth|
|positive regulation of DNA-binding transcription factor activity|
|transcription coactivator activity|
|camera-type eye development|
|transcription factor binding|
|eye development|
|regulation of Wnt signaling pathway|
|visual system development|
|sensory system development|
|cellular component disassembly|
|regulation of cell growth|
|regulation of DNA-binding transcription factor activity|
|RNA polymerase II proximal promoter sequence-specific DNA binding|
|positive regulation of multi-organism process|
|sensory organ development|
|protein-containing complex|
|transcription, DNA-templated|
|nucleic acid-templated transcription|
|RNA biosynthetic process|
|regulation of growth|
|cytokine-mediated signaling pathway|
|chromatin organization|
|regulation of multi-organism process|
|symbiotic process|
|interspecies interaction between organisms|
|cellular protein-containing complex assembly|
|nucleolus|
|negative regulation of transcription by RNA polymerase II|
|cellular response to cytokine stimulus|
|chromosome organization|
|nucleobase-containing compound biosynthetic process|
|response to cytokine|
|heterocycle biosynthetic process|
|aromatic compound biosynthetic process|
|negative regulation of transcription, DNA-templated|
|positive regulation of transcription by RNA polymerase II|
|negative regulation of nucleic acid-templated transcription|
|negative regulation of RNA biosynthetic process|
|negative regulation of signal transduction|
|organic cyclic compound biosynthetic process|
|negative regulation of RNA metabolic process|
|negative regulation of cell communication|
|negative regulation of signaling|
|negative regulation of cellular macromolecule biosynthetic process|
|RNA binding|
|negative regulation of nucleobase-containing compound metabolic process|
|DNA binding|
|negative regulation of macromolecule biosynthetic process|
|ATP binding|
|negative regulation of cellular biosynthetic process|
|positive regulation of transcription, DNA-templated|
|negative regulation of biosynthetic process|
|protein-containing complex assembly|
|extracellular space|
|negative regulation of response to stimulus|
|cellular nitrogen compound biosynthetic process|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|positive regulation of signal transduction|
|RNA metabolic process|
|cellular macromolecule biosynthetic process|
|negative regulation of gene expression|
|positive regulation of RNA metabolic process|
|macromolecule biosynthetic process|
|positive regulation of molecular function|
|positive regulation of cell communication|
|positive regulation of signaling|
|protein-containing complex subunit organization|
|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|
|membrane|
|gene expression|
|positive regulation of biosynthetic process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' 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:exp335|Aminopterin 0.005μM R07 exp335]]|1.77|
|[[:results:exp264|Arsenate 40μM R06 exp264]]|1.77|
|[[:results:exp482|Fas-L 44ng/ml R08 exp482]]|1.84|
|[[:results:exp36|TRAIL 50ng/ml R00 exp36]]|2.08|
|[[:results:exp35|TRAIL 5ng/ml R00 exp35]]|2.35|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:h:hgc6.3|HGC6.3]]|0.492|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 32/726
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|1/28|
|blood|2/28|
|bone|0/25|
|breast|3/33|
|central nervous system|1/56|
|cervix|0/4|
|colorectal|1/17|
|esophagus|3/13|
|fibroblast|0/1|
|gastric|2/15|
|kidney|1/21|
|liver|1/20|
|lung|2/75|
|lymphocyte|0/14|
|ovary|2/26|
|pancreas|0/24|
|peripheral nervous system|2/16|
|plasma cell|0/15|
|prostate|1/1|
|skin|1/24|
|soft tissue|0/7|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|1/29|
|uterus|1/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 771
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 9.14 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='SMARCA4 Expression in NALM6 Cells: 9.14'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>