AIPL1 [The Human Chemical-Genetic Interaction Map Project]

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======= AIPL1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: AIPL1
  * **<color #00a2e8>Official Name</color>**: aryl hydrocarbon receptor interacting protein like 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=23746|23746]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9NZN9|Q9NZN9]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=AIPL1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20AIPL1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/604392|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset and accounts for at least 5% of all inherited retinal diseases. Affected individuals are diagnosed at birth or in the first few months of life with nystagmus, severely impaired vision or blindness and an abnormal or flat electroretinogram. The photoreceptor/pineal-expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, is located within the LCA4 candidate region. The encoded protein contains three tetratricopeptide motifs, consistent with chaperone or nuclear transport activity. Mutations in this gene may cause approximately 20% of recessive LCA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 
  * **<color #00a2e8>UniProt Summary</color>**:  May be important in protein trafficking and/or protein folding and stabilization.

<button type='default' 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'>
No Pfam Domain information is available for this gene.
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|farnesylated protein binding|
|protein farnesylation|
|prenylation|
|protein prenylation|
|phototransduction, visible light|
|regulation of rhodopsin mediated signaling pathway|
|phototransduction|
|protein peptidyl-prolyl isomerization|
|peptidyl-prolyl cis-trans isomerase activity|
|detection of visible light|
|photoreceptor inner segment|
|detection of light stimulus|
|peptidyl-proline modification|
|retina homeostasis|
|detection of external stimulus|
|detection of abiotic stimulus|
|unfolded protein binding|
|regulation of G protein-coupled receptor signaling pathway|
|tissue homeostasis|
|visual perception|
|sensory perception of light stimulus|
|response to light stimulus|
|multicellular organismal homeostasis|
|anatomical structure homeostasis|
|response to radiation|
|detection of stimulus|
|peptidyl-amino acid modification|
|negative regulation of apoptotic process|
|negative regulation of programmed cell death|
|sensory perception|
|negative regulation of cell death|
|regulation of response to external stimulus|
|response to abiotic stimulus|
|nervous system process|
|regulation of apoptotic process|
|regulation of programmed cell death|
|homeostatic process|
|regulation of cell death|
|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:exp24|Nocodazole 0.2μM R00 exp24]]|-2.04|
</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>**: 5241
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 3.05 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='AIPL1 Expression in NALM6 Cells: 3.05'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>