OBSL1 [The Human Chemical-Genetic Interaction Map Project]

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======= OBSL1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: OBSL1
  * **<color #00a2e8>Official Name</color>**: obscurin like cytoskeletal adaptor 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=23363|23363]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O75147|O75147]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=OBSL1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20OBSL1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/610991|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein contains multiple N- and C-terminal immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain. Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different isoforms have been found in this gene. [provided by RefSeq, Mar 2010]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer (PubMed:24793695, PubMed:24793696). Acts as a regulator of the Cul7-RING(FBXW8) ubiquitin-protein ligase, playing a critical role in the ubiquitin ligase pathway that regulates Golgi morphogenesis and dendrite patterning in brain. Required to localize CUL7 to the Golgi apparatus in neurons. {ECO:0000269|PubMed:21572988, ECO:0000269|PubMed:24793695, ECO:0000269|PubMed:24793696}.

<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'>
|I-set|
|ig|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|3M complex|
|striated muscle myosin thick filament assembly|
|skeletal muscle myosin thick filament assembly|
|myosin filament organization|
|myosin filament assembly|
|cytoskeletal adaptor activity|
|skeletal muscle thin filament assembly|
|skeletal myofibril assembly|
|cardiac muscle fiber development|
|striated muscle thin filament|
|muscle alpha-actinin binding|
|cardiac myofibril assembly|
|M band|
|protein localization to Golgi apparatus|
|positive regulation of dendrite morphogenesis|
|intercalated disc|
|sarcomere organization|
|structural constituent of muscle|
|sarcomere|
|muscle fiber development|
|cardiac muscle cell development|
|cardiac cell development|
|myofibril assembly|
|cardiac muscle tissue morphogenesis|
|positive regulation of dendrite development|
|muscle tissue morphogenesis|
|muscle organ morphogenesis|
|cardiac muscle cell differentiation|
|regulation of dendrite morphogenesis|
|cellular component assembly involved in morphogenesis|
|actomyosin structure organization|
|cardiocyte differentiation|
|Z disc|
|Golgi organization|
|striated muscle cell development|
|muscle cell development|
|regulation of dendrite development|
|positive regulation of cell morphogenesis involved in differentiation|
|cardiac muscle tissue development|
|regulation of mitotic nuclear division|
|regulation of nuclear division|
|striated muscle cell differentiation|
|actin filament binding|
|actin filament organization|
|muscle cell differentiation|
|heart morphogenesis|
|muscle contraction|
|positive regulation of neuron projection development|
|striated muscle tissue development|
|muscle organ development|
|muscle tissue development|
|muscle system process|
|regulation of cell morphogenesis involved in differentiation|
|post-translational protein modification|
|positive regulation of neuron differentiation|
|positive regulation of cell projection organization|
|endomembrane system organization|
|supramolecular fiber organization|
|positive regulation of neurogenesis|
|muscle structure development|
|microtubule cytoskeleton organization|
|regulation of cell morphogenesis|
|centrosome|
|actin cytoskeleton organization|
|regulation of neuron projection development|
|heart development|
|positive regulation of nervous system development|
|positive regulation of cell development|
|tissue morphogenesis|
|actin filament-based process|
|regulation of mitotic cell cycle|
|regulation of neuron differentiation|
|microtubule-based process|
|regulation of plasma membrane bounded cell projection organization|
|perinuclear region of cytoplasm|
|regulation of cell projection organization|
|protein localization to organelle|
|regulation of cell cycle process|
|organelle assembly|
|regulation of neurogenesis|
|cellular component morphogenesis|
|cellular protein-containing complex assembly|
|circulatory system development|
|anatomical structure formation involved in morphogenesis|
|regulation of nervous system development|
|regulation of cell development|
|animal organ morphogenesis|
|positive regulation of cell differentiation|
|Golgi apparatus|
|regulation of anatomical structure morphogenesis|
|cytoskeleton organization|
|regulation of cell cycle|
|positive regulation of cellular component organization|
|regulation of organelle organization|
|positive regulation of developmental process|
|generation of neurons|
|protein-containing complex assembly|
|cellular protein localization|
|cellular macromolecule localization|
|neurogenesis|
|cell development|
|positive regulation of multicellular organismal process|
|tissue development|
|regulation of cell differentiation|
|protein-containing complex subunit organization|
|system 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:exp37|Wortmannin 0.5μM R00 exp37]]|-1.71|
|[[:results:exp298|Sucrose 20000μM R06 exp298]]|1.79|
|[[:results:exp274|Citral 50μM R06 exp274]]|1.81|
|[[:results:exp164|Q15 1 to 2μM on day4 R04 exp164]]|1.86|
|[[:results:exp518|RK-33 8μM R08 exp518]]|2.21|
</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>**: 3208
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 1.4 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='OBSL1 Expression in NALM6 Cells: 1.4'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>