PKHD1 [The Human Chemical-Genetic Interaction Map Project]

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======= PKHD1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: PKHD1
  * **<color #00a2e8>Official Name</color>**: PKHD1 ciliary IPT domain containing fibrocystin/polyductin
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=5314|5314]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P08F94|P08F94]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=PKHD1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PKHD1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/606702|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  May be required for correct bipolar cell division through the regulation of centrosome duplication and mitotic spindle assembly. May be a receptor protein that acts in collecting-duct and biliary differentiation. {ECO:0000269|PubMed:20554582}.

<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'>
|G8|
|TIG|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|anchored component of external side of plasma membrane|
|regulation of centrosome duplication|
|negative regulation of protein kinase B signaling|
|chromosome, centromeric region|
|regulation of centrosome cycle|
|mitotic spindle|
|negative regulation of NF-kappaB transcription factor activity|
|regulation of TOR signaling|
|ciliary basal body|
|negative regulation of DNA-binding transcription factor activity|
|regulation of microtubule cytoskeleton organization|
|cilium|
|signaling receptor activity|
|regulation of protein kinase B signaling|
|regulation of microtubule-based process|
|kidney development|
|renal system development|
|regulation of ERK1 and ERK2 cascade|
|negative regulation of cellular component movement|
|urogenital system development|
|apical plasma membrane|
|cilium assembly|
|cilium organization|
|regulation of DNA-binding transcription factor activity|
|cellular calcium ion homeostasis|
|plasma membrane bounded cell projection assembly|
|calcium ion homeostasis|
|cell projection assembly|
|cellular divalent inorganic cation homeostasis|
|divalent inorganic cation homeostasis|
|centrosome|
|cell-cell adhesion|
|negative regulation of intracellular signal transduction|
|regulation of cytoskeleton organization|
|cellular metal ion homeostasis|
|metal ion homeostasis|
|cellular cation homeostasis|
|cellular ion homeostasis|
|perinuclear region of cytoplasm|
|cation homeostasis|
|inorganic ion homeostasis|
|cellular chemical homeostasis|
|regulation of MAPK cascade|
|regulation of cell cycle process|
|organelle assembly|
|ion homeostasis|
|negative regulation of apoptotic process|
|cellular homeostasis|
|negative regulation of programmed cell death|
|positive regulation of cell population proliferation|
|cell adhesion|
|biological adhesion|
|regulation of cellular component movement|
|negative regulation of cell death|
|chemical homeostasis|
|plasma membrane bounded cell projection organization|
|negative regulation of molecular function|
|cell projection organization|
|regulation of cell cycle|
|negative regulation of signal transduction|
|regulation of organelle organization|
|negative regulation of cell communication|
|negative regulation of signaling|
|regulation of protein phosphorylation|
|regulation of apoptotic process|
|regulation of programmed cell death|
|regulation of phosphorylation|
|regulation of cell population proliferation|
|negative regulation of response to stimulus|
|homeostatic process|
|regulation of cell death|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|regulation of intracellular signal transduction|
|regulation of protein modification 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:exp256|HMS-I1 10μM R06 exp256]]|-2.06|
|[[:results:exp452|Azithromycin 100μM R08 exp452]]|1.76|
|[[:results:exp390|Pifithrin-alpha 20μM R07 exp390]]|1.8|
|[[:results:exp437|Ethanol 0.003 R08 exp437]]|1.81|
|[[:results:exp414|Tozasertib 0.1μM R07 exp414]]|2.22|
</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>**: 8728
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -0.1 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='PKHD1 Expression in NALM6 Cells: -0.1'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>