======= RPGRIP1L =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: RPGRIP1L
  * **<color #00a2e8>Official Name</color>**: RPGRIP1 like
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=23322|23322]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q68CZ1|Q68CZ1]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=RPGRIP1L&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20RPGRIP1L|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/610937|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). [provided by RefSeq, Jun 2016]. COMPLETENESS: complete on the 3' end. 
  * **<color #00a2e8>UniProt Summary</color>**:  Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R) (PubMed:19464661). May be involved in mechanisms like programmed cell death, craniofacial development, patterning of the limbs, and formation of the left- right axis (By similarity). Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module. Does not seem to be strictly required for ciliogenesis (PubMed:19464661). Involved in establishment of planar cell polarity such as in cochlear sensory epithelium and is proposed to implicate stabilization of disheveled proteins (By similarity). Involved in regulation of proteasomal activity at the primary cilium probably implicating association with PSDM2 (By similarity). {ECO:0000250|UniProtKB:Q8CG73, ECO:0000269|PubMed:19464661}.

<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'>
|C2|
|DUF3250|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|thromboxane A2 receptor binding|
|axonemal microtubule|
|ciliary rootlet|
|lateral ventricle development|
|nose development|
|corpus callosum development|
|pericardium development|
|establishment of planar polarity|
|establishment of tissue polarity|
|ventricular system development|
|embryonic hindlimb morphogenesis|
|ciliary transition zone|
|olfactory bulb development|
|embryonic forelimb morphogenesis|
|olfactory lobe development|
|neural tube patterning|
|hindlimb morphogenesis|
|photoreceptor connecting cilium|
|forelimb morphogenesis|
|morphogenesis of a polarized epithelium|
|non-motile cilium assembly|
|negative regulation of G protein-coupled receptor signaling pathway|
|cochlea development|
|regulation of smoothened signaling pathway|
|ciliary basal body-plasma membrane docking|
|cerebellum development|
|axoneme|
|metencephalon development|
|determination of left/right symmetry|
|determination of bilateral symmetry|
|bicellular tight junction|
|specification of symmetry|
|embryonic appendage morphogenesis|
|embryonic limb morphogenesis|
|liver development|
|hepaticobiliary system development|
|ciliary basal body|
|regulation of G protein-coupled receptor signaling pathway|
|appendage morphogenesis|
|limb morphogenesis|
|hindbrain development|
|neural tube development|
|organelle localization by membrane tethering|
|cell-cell junction|
|membrane docking|
|limb development|
|appendage development|
|inner ear development|
|respiratory system development|
|establishment or maintenance of cell polarity|
|cilium|
|ear development|
|telencephalon development|
|kidney development|
|renal system development|
|camera-type eye development|
|urogenital system development|
|regionalization|
|cilium assembly|
|eye development|
|visual system development|
|sensory system development|
|cilium organization|
|in utero embryonic development|
|forebrain development|
|gland development|
|morphogenesis of an epithelium|
|pattern specification process|
|plasma membrane bounded cell projection assembly|
|cell projection assembly|
|centrosome|
|heart development|
|sensory organ development|
|tissue morphogenesis|
|embryonic morphogenesis|
|organelle localization|
|chordate embryonic development|
|embryo development ending in birth or egg hatching|
|brain development|
|organelle assembly|
|head development|
|tube development|
|circulatory system development|
|embryo development|
|central nervous system development|
|epithelium development|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|negative regulation of signal transduction|
|negative regulation of cell communication|
|negative regulation of signaling|
|negative regulation of response to stimulus|
|tissue development|
</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:exp54|Taxol 0.002μM R01 exp54]]|2.05|
</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>**: 8763
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.9 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='RPGRIP1L Expression in NALM6 Cells: 4.9'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>