SMARCAL1 [The Human Chemical-Genetic Interaction Map Project]

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======= SMARCAL1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: SMARCAL1
  * **<color #00a2e8>Official Name</color>**: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=50485|50485]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9NZC9|Q9NZC9]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=SMARCAL1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20SMARCAL1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/606622|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. 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 shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  ATP-dependent annealing helicase that binds selectively to fork DNA relative to ssDNA or dsDNA and catalyzes the rewinding of the stably unwound DNA. Rewinds single-stranded DNA bubbles that are stably bound by replication protein A (RPA). Acts throughout the genome to reanneal stably unwound DNA, performing the opposite reaction of many enzymes, such as helicases and polymerases, that unwind DNA. May play an important role in DNA damage response by acting at stalled replication forks. {ECO:0000269|PubMed:18974355, ECO:0000269|PubMed:19793861, ECO:0000269|PubMed:19793862}.

<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'>
|SNF2 N|
|HARP|
|Helicase C|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|DNA rewinding|
|annealing helicase activity|
|DNA strand renaturation|
|replication fork protection|
|formation of extrachromosomal circular DNA|
|t-circle formation|
|telomere maintenance via telomere trimming|
|nuclear replication fork|
|DNA replication factor A complex|
|negative regulation of DNA-dependent DNA replication|
|replication fork processing|
|helicase activity|
|negative regulation of DNA replication|
|DNA-dependent DNA replication maintenance of fidelity|
|DNA-dependent ATPase activity|
|regulation of DNA-dependent DNA replication|
|site of double-strand break|
|DNA helicase activity|
|telomere maintenance|
|telomere organization|
|regulation of DNA replication|
|DNA geometric change|
|DNA-dependent DNA replication|
|DNA replication|
|DNA conformation change|
|anatomical structure homeostasis|
|DNA repair|
|DNA metabolic process|
|cellular response to DNA damage stimulus|
|chromosome organization|
|negative regulation of cellular macromolecule biosynthetic process|
|negative regulation of macromolecule biosynthetic process|
|ATP binding|
|negative regulation of cellular biosynthetic process|
|negative regulation of biosynthetic process|
|homeostatic process|
|cellular response to stress|
|cellular macromolecule biosynthetic process|
|macromolecule 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:exp512|Olaparib 4μM R08 exp512]]|-3.83|
|[[:results:exp294|Nutlin-3A 1.6μM R06 exp294]]|-2.91|
|[[:results:exp440|Aphidicolin 0.4μM R08 exp440]]|-2.44|
|[[:results:exp299|Talazoparib 0.006μM R06 exp299]]|-2.3|
|[[:results:exp520|Rucaparib 6.5μM R08 exp520]]|-1.96|
|[[:results:exp147|Resveratrol 16μM R03 exp147]]|-1.84|
|[[:results:exp535|Trimetrexate 0.03μM R08 exp535]]|-1.79|
|[[:results:exp270|Campthothecin 0.001μM R06 exp270]]|-1.77|
|[[:results:exp199|Etoposide 0.3μM R05 exp199]]|-1.75|
|[[:results:exp292|Menadione 5μM R06 exp292]]|-1.74|
|[[:results:exp49|NFN1 0.1μM R01 exp49]]|1.72|
|[[:results:exp132|Metformin 40μM R03 exp132]]|1.79|
|[[:results:exp391|Pomalidomide 20μM R07 exp391]]|2.12|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:a:apex2|APEX2]]|0.437|
|[[:human genes:k:kiaa1524|KIAA1524]]|0.41|
</modal>

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

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 1208
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.65 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='SMARCAL1 Expression in NALM6 Cells: 4.65'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>