RP1L1 [The Human Chemical-Genetic Interaction Map Project]

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======= RP1L1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: RP1L1
  * **<color #00a2e8>Official Name</color>**: RP1 like 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=94137|94137]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q8IWN7|Q8IWN7]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=RP1L1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20RP1L1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/608581|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, and two C-terminal large repetitive regions, both of which contain a high percentage of glutamine and glutamic acid residues. This protein is a retinal-specific protein. Its exact length varies among individuals due to the presence of a 16aa repeat in the first C-terminal repetitive region. The 16aa repeat is encoded by the highly polymorphic 48-bp repeat, and 1-6 copies of the 16aa repeat have been identified in normal individuals. The current reference sequence shown here has a single copy of the 16aa repeat. This protein and the RP1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Mutations in this gene cause occult macular dystrophy (OMD). [provided by RefSeq, Sep 2010]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Required for the differentiation of photoreceptor cells. Plays a role in the organization of outer segment of rod and cone photoreceptors (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'>
|DCX|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|photoreceptor cell maintenance|
|photoreceptor connecting cilium|
|photoreceptor cell development|
|photoreceptor cell differentiation|
|photoreceptor outer segment|
|axoneme assembly|
|retina homeostasis|
|microtubule bundle formation|
|axoneme|
|retina development in camera-type eye|
|tissue homeostasis|
|visual perception|
|sensory perception of light stimulus|
|camera-type eye development|
|microtubule|
|multicellular organismal homeostasis|
|anatomical structure homeostasis|
|cilium assembly|
|eye development|
|visual system development|
|cilium organization|
|sensory system development|
|plasma membrane bounded cell projection assembly|
|cell projection assembly|
|microtubule cytoskeleton organization|
|sensory organ development|
|microtubule-based process|
|organelle assembly|
|neuron development|
|sensory perception|
|neuron differentiation|
|cytoskeleton organization|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|nervous system process|
|generation of neurons|
|neurogenesis|
|homeostatic process|
|cell development|
|intracellular signal transduction|
|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:exp94|Nocodazole 0.1μM R03 exp94]]|-1.72|
|[[:results:exp46|HMS-I1 1μM R01 exp46]]|1.82|
|[[:results:exp374|Latrunculin-B 10μM R07 exp374]]|1.9|
|[[:results:exp355|Dinaciclib 0.007μM R07 exp355]]|1.96|
</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>**: 18826
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 3.48 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='RP1L1 Expression in NALM6 Cells: 3.48'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>