IQCB1 [The Human Chemical-Genetic Interaction Map Project]

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======= IQCB1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: IQCB1
  * **<color #00a2e8>Official Name</color>**: IQ motif containing B1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=9657|9657]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q15051|Q15051]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=IQCB1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20IQCB1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/609237|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. The encoded protein has a central coiled-coil region and two calmodulin-binding IQ domains. It is localized to the primary cilia of renal epithelial cells and connecting cilia of photoreceptor cells. The protein is thought to play a role in ciliary function. Defects in this gene result in Senior-Loken syndrome type 5. Alternative splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Jan 2016]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Involved in ciliogenesis. The function in an early step in cilia formation depends on its association with CEP290/NPHP6 (PubMed:21565611, PubMed:23446637). Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2 and BBS5 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating CEP290/NPHP6 (PubMed:25552655). {ECO:0000269|PubMed:23446637, ECO:0000269|PubMed:25552655}.

<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'>
|IQ|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|maintenance of animal organ identity|
|photoreceptor cell maintenance|
|photoreceptor connecting cilium|
|intercellular bridge|
|photoreceptor outer segment|
|retina homeostasis|
|mitotic spindle|
|ciliary basal body-plasma membrane docking|
|centriole|
|microtubule cytoskeleton|
|organelle localization by membrane tethering|
|membrane docking|
|tissue homeostasis|
|calmodulin binding|
|multicellular organismal homeostasis|
|anatomical structure homeostasis|
|cilium assembly|
|enzyme binding|
|cilium organization|
|plasma membrane bounded cell projection assembly|
|cell projection assembly|
|centrosome|
|organelle localization|
|negative regulation of cell differentiation|
|organelle assembly|
|negative regulation of developmental process|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|homeostatic process|
|regulation of cell differentiation|
</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:exp175|3-Bromopyruvate 7μM R04 exp175]]|1.82|
|[[:results:exp219|A-395N 10μM R05 exp219]]|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>**: 14729
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.42 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='IQCB1 Expression in NALM6 Cells: 6.42'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>