======= OPHN1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: OPHN1
  * **<color #00a2e8>Official Name</color>**: oligophrenin 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=4983|4983]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O60890|O60890]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=OPHN1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20OPHN1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/300127|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked cognitive disability with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Stimulates GTP hydrolysis of members of the Rho family. Its action on RHOA activity and signaling is implicated in growth and stabilization of dendritic spines, and therefore in synaptic function. Critical for the stabilization of AMPA receptors at postsynaptic sites. Critical for the regulation of synaptic vesicle endocytosis at presynaptic terminals. Required for the localization of NR1D1 to dendrites, can suppress its repressor activity and protect it from proteasomal degradation (By similarity). {ECO:0000250}.

<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'>
|RhoGAP|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|maintenance of postsynaptic specialization structure|
|cerebellar granular layer formation|
|cerebellar granule cell differentiation|
|cerebellar granular layer morphogenesis|
|substrate-dependent cell migration, cell extension|
|regulation of postsynaptic neurotransmitter receptor internalization|
|cerebellar granular layer development|
|maintenance of synapse structure|
|establishment of epithelial cell apical/basal polarity|
|postsynaptic density organization|
|postsynaptic specialization organization|
|polarized epithelial cell differentiation|
|cell differentiation in hindbrain|
|establishment of apical/basal cell polarity|
|cerebellar cortex formation|
|establishment of monopolar cell polarity|
|establishment or maintenance of monopolar cell polarity|
|cerebral cortex neuron differentiation|
|substrate-dependent cell migration|
|cerebellar cortex morphogenesis|
|establishment of epithelial cell polarity|
|ionotropic glutamate receptor binding|
|cerebellum morphogenesis|
|hindbrain morphogenesis|
|morphogenesis of a polarized epithelium|
|synaptic vesicle endocytosis|
|presynaptic endocytosis|
|cellular component maintenance|
|establishment or maintenance of epithelial cell apical/basal polarity|
|cerebellar cortex development|
|establishment or maintenance of bipolar cell polarity|
|terminal bouton|
|establishment or maintenance of apical/basal cell polarity|
|synaptic vesicle recycling|
|regulation of receptor internalization|
|negative regulation of proteasomal protein catabolic process|
|regulation of synaptic transmission, glutamatergic|
|negative regulation of proteolysis involved in cellular protein catabolic process|
|negative regulation of cellular protein catabolic process|
|postsynapse organization|
|regulation of receptor-mediated endocytosis|
|cerebellum development|
|phospholipid binding|
|metencephalon development|
|establishment of cell polarity|
|synaptic vesicle cycle|
|vesicle-mediated transport in synapse|
|negative regulation of protein catabolic process|
|regulation of Rho protein signal transduction|
|dendritic spine|
|hindbrain development|
|cell junction assembly|
|central nervous system neuron differentiation|
|regulation of proteasomal protein catabolic process|
|establishment or maintenance of cell polarity|
|regulation of endocytosis|
|cell junction organization|
|regulation of proteolysis involved in cellular protein catabolic process|
|actin cytoskeleton|
|regulation of Ras protein signal transduction|
|regulation of cellular protein catabolic process|
|negative regulation of cellular catabolic process|
|axon guidance|
|neuron projection guidance|
|actin binding|
|synapse organization|
|GTPase activator activity|
|negative regulation of catabolic process|
|regulation of small GTPase mediated signal transduction|
|glutamatergic synapse|
|negative regulation of proteolysis|
|axonogenesis|
|regulation of protein catabolic process|
|forebrain development|
|axon development|
|positive regulation of GTPase activity|
|cell morphogenesis involved in neuron differentiation|
|morphogenesis of an epithelium|
|modulation of chemical synaptic transmission|
|regulation of trans-synaptic signaling|
|plasma membrane bounded cell projection assembly|
|cell projection assembly|
|neuron projection morphogenesis|
|regulation of GTPase activity|
|plasma membrane bounded cell projection morphogenesis|
|cell projection morphogenesis|
|actin cytoskeleton organization|
|cell part morphogenesis|
|regulation of cellular protein localization|
|cell junction|
|chemotaxis|
|regulation of vesicle-mediated transport|
|taxis|
|endocytosis|
|cell morphogenesis involved in differentiation|
|tissue morphogenesis|
|actin filament-based process|
|neuron projection development|
|import into cell|
|epithelial cell differentiation|
|regulation of protein transport|
|cell morphogenesis|
|regulation of proteolysis|
|regulation of peptide transport|
|brain development|
|regulation of establishment of protein localization|
|positive regulation of hydrolase activity|
|head development|
|neuron development|
|cellular component morphogenesis|
|regulation of cellular catabolic process|
|anatomical structure formation involved in morphogenesis|
|regulation of cellular localization|
|cell migration|
|central nervous system development|
|regulation of catabolic process|
|neuron differentiation|
|regulation of protein localization|
|negative regulation of cellular protein metabolic process|
|localization of cell|
|cell motility|
|negative regulation of protein metabolic process|
|cytoskeleton organization|
|epithelium development|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|regulation of hydrolase activity|
|locomotion|
|positive regulation of catalytic activity|
|generation of neurons|
|movement of cell or subcellular component|
|neurogenesis|
|cell development|
|tissue development|
|positive regulation of molecular function|
|regulation of intracellular signal transduction|
|establishment of localization in cell|
|regulation of transport|
|vesicle-mediated transport|
</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:exp445|∆-9-Tetrahydrocannabinol 30μM R08 exp445]]|1.7|
|[[:results:exp425|Beta-Estradiol 0.55μM R07 exp425]]|1.72|
|[[:results:exp54|Taxol 0.002μM R01 exp54]]|1.77|
</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: 0/694
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/26|
|bone|0/26|
|breast|0/30|
|central nervous system|0/49|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/11|
|fibroblast|0/1|
|gastric|0/14|
|kidney|0/18|
|liver|0/19|
|lung|0/72|
|lymphocyte|0/16|
|ovary|0/25|
|pancreas|0/22|
|peripheral nervous system|0/15|
|plasma cell|0/12|
|prostate|0/1|
|skin|0/20|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/28|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 9444
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.77 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='OPHN1 Expression in NALM6 Cells: 4.77'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>