INPP5E [The Human Chemical-Genetic Interaction Map Project]

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======= INPP5E =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: INPP5E
  * **<color #00a2e8>Official Name</color>**: inositol polyphosphate-5-phosphatase E
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=56623|56623]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9NRR6|Q9NRR6]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=INPP5E&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20INPP5E|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/613037|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies that include retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Converts phosphatidylinositol 3,4,5-trisphosphate (PtdIns 3,4,5-P3) to PtdIns-P2, and phosphatidylinositol 4,5- bisphosphate to phosphatidylinositol 4-phosphate. Specific for lipid substrates, inactive towards water soluble inositol phosphates. {ECO:0000269|PubMed:10764818}.

<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'>
|Exo endo phos|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|negative regulation of protein localization to cilium|
|inositol-polyphosphate 5-phosphatase activity|
|regulation of protein localization to cilium|
|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|
|inositol phosphate dephosphorylation|
|phosphorylated carbohydrate dephosphorylation|
|inositol phosphate catabolic process|
|phosphatidylinositol dephosphorylation|
|polyol catabolic process|
|phospholipid dephosphorylation|
|alcohol catabolic process|
|inositol phosphate metabolic process|
|organic hydroxy compound catabolic process|
|ruffle|
|Golgi cisterna membrane|
|axoneme|
|phosphatidylinositol biosynthetic process|
|polyol metabolic process|
|negative regulation of cellular protein localization|
|organophosphate catabolic process|
|phosphatidylinositol metabolic process|
|cellular carbohydrate metabolic process|
|cilium|
|lipid modification|
|glycerophospholipid biosynthetic process|
|glycerolipid biosynthetic process|
|phospholipid biosynthetic process|
|glycerophospholipid metabolic process|
|dephosphorylation|
|alcohol metabolic process|
|phospholipid metabolic process|
|glycerolipid metabolic process|
|small molecule catabolic process|
|organic hydroxy compound metabolic process|
|carbohydrate metabolic process|
|organophosphate biosynthetic process|
|regulation of cellular protein localization|
|lipid biosynthetic process|
|organophosphate metabolic process|
|regulation of cellular localization|
|cellular lipid metabolic process|
|regulation of protein localization|
|lipid metabolic process|
|small molecule metabolic process|
|organic substance catabolic process|
</modal>
\\

 === CRISPR Data ===
<button type='default' 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'>
No hits were found.
</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>**: 11847
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.28 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='INPP5E Expression in NALM6 Cells: 4.28'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>