PKD1 [The Human Chemical-Genetic Interaction Map Project]

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======= PKD1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: PKD1
  * **<color #00a2e8>Official Name</color>**: polycystin 1, transient receptor potential channel interacting
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=5310|5310]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P98161|P98161]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=PKD1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PKD1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/601313|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Involved in renal tubulogenesis (PubMed:12482949). Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (By similarity). Acts as a regulator of cilium length, together with PKD2 (By similarity). The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling (By similarity). The cilium length response creates a negative feedback loop whereby fluid shear- mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling (By similarity). May be an ion-channel regulator. Involved in adhesive protein-protein and protein- carbohydrate interactions. {ECO:0000250|UniProtKB:O08852, ECO:0000269|PubMed:12482949}.

<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'>
|WSC|
|PKD channel|
|PLAT|
|REJ|
|PKD|
|Lectin C|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|metanephric distal tubule morphogenesis|
|metanephric proximal tubule development|
|polycystin complex|
|distal tubule morphogenesis|
|metanephric ascending thin limb development|
|ascending thin limb development|
|calcium-independent cell-matrix adhesion|
|proximal tubule development|
|metanephric loop of Henle development|
|metanephric distal tubule development|
|metanephric collecting duct development|
|metanephric nephron tubule morphogenesis|
|mesonephric duct development|
|cation channel complex|
|metanephric tubule morphogenesis|
|loop of Henle development|
|distal tubule development|
|collecting duct development|
|lymph vessel morphogenesis|
|metanephric nephron tubule development|
|nephric duct development|
|cytoplasmic sequestering of transcription factor|
|metanephric nephron epithelium development|
|Wnt-activated receptor activity|
|metanephric tubule development|
|Golgi-associated vesicle membrane|
|cartilage condensation|
|metanephric nephron morphogenesis|
|cell aggregation|
|metanephric epithelium development|
|lymph vessel development|
|calcium channel complex|
|cytoplasmic sequestering of protein|
|metanephros morphogenesis|
|placenta blood vessel development|
|lung epithelium development|
|positive regulation of cyclin-dependent protein serine/threonine kinase activity|
|metanephric nephron development|
|protein heterotetramerization|
|response to fluid shear stress|
|positive regulation of cyclin-dependent protein kinase activity|
|receptor signaling pathway via JAK-STAT|
|regulation of mitotic spindle organization|
|receptor signaling pathway via STAT|
|regulation of spindle organization|
|detection of mechanical stimulus|
|genitalia development|
|calcium channel activity|
|ciliary membrane|
|lateral plasma membrane|
|nephron tubule morphogenesis|
|nephron epithelium morphogenesis|
|nephron morphogenesis|
|renal tubule morphogenesis|
|nephron tubule development|
|renal tubule development|
|metanephros development|
|kidney morphogenesis|
|mesonephric tubule development|
|mesonephric epithelium development|
|embryonic placenta development|
|mesonephros development|
|positive regulation of protein binding|
|nephron epithelium development|
|regulation of cyclin-dependent protein serine/threonine kinase activity|
|motile cilium|
|regulation of cyclin-dependent protein kinase activity|
|maintenance of protein location|
|protein heterooligomerization|
|spinal cord development|
|establishment of cell polarity|
|detection of external stimulus|
|detection of abiotic stimulus|
|nephron development|
|liver development|
|ion channel binding|
|cell-matrix adhesion|
|kidney epithelium development|
|hepaticobiliary system development|
|branching morphogenesis of an epithelial tube|
|digestive tract development|
|digestive system development|
|cell cycle arrest|
|protein export from nucleus|
|protein tetramerization|
|regulation of G1/S transition of mitotic cell cycle|
|placenta development|
|nuclear export|
|morphogenesis of a branching epithelium|
|neural tube development|
|negative regulation of DNA-binding transcription factor activity|
|maintenance of location|
|regulation of cell cycle G1/S phase transition|
|morphogenesis of a branching structure|
|lung development|
|homophilic cell adhesion via plasma membrane adhesion molecules|
|cartilage development|
|respiratory tube development|
|carbohydrate binding|
|peptidyl-serine phosphorylation|
|positive regulation of binding|
|regulation of proteasomal protein catabolic process|
|cell-substrate adhesion|
|regulation of microtubule cytoskeleton organization|
|respiratory system development|
|establishment or maintenance of cell polarity|
|basolateral plasma membrane|
|calcium ion transmembrane transport|
|peptidyl-serine modification|
|cilium|
|response to mechanical stimulus|
|regulation of proteolysis involved in cellular protein catabolic process|
|regulation of protein binding|
|regulation of microtubule-based process|
|connective tissue development|
|skeletal system morphogenesis|
|protein domain specific binding|
|regulation of cellular protein catabolic process|
|calcium ion transport|
|cell-cell adhesion via plasma-membrane adhesion molecules|
|nucleocytoplasmic transport|
|sex differentiation|
|nuclear transport|
|kidney development|
|positive regulation of cytosolic calcium ion concentration|
|renal system development|
|divalent metal ion transport|
|divalent inorganic cation transport|
|epithelial tube morphogenesis|
|urogenital system development|
|regulation of cytosolic calcium ion concentration|
|positive regulation of protein serine/threonine kinase activity|
|Wnt signaling pathway|
|cell-cell signaling by wnt|
|positive regulation of cell cycle|
|regulation of binding|
|in utero embryonic development|
|skin development|
|regulation of protein catabolic process|
|gland development|
|regulation of mitotic cell cycle phase transition|
|reproductive structure development|
|cell surface receptor signaling pathway involved in cell-cell signaling|
|regulation of DNA-binding transcription factor activity|
|reproductive system development|
|morphogenesis of an epithelium|
|embryonic organ development|
|cellular calcium ion homeostasis|
|regulation of cell cycle phase transition|
|calcium ion homeostasis|
|protein kinase binding|
|cellular divalent inorganic cation homeostasis|
|blood vessel development|
|divalent inorganic cation homeostasis|
|skeletal system development|
|cell-cell adhesion|
|vasculature development|
|regulation of protein serine/threonine kinase activity|
|cardiovascular system development|
|protein complex oligomerization|
|heart development|
|positive regulation of protein kinase activity|
|regulation of cytoskeleton organization|
|cellular metal ion homeostasis|
|inorganic cation transmembrane transport|
|tissue morphogenesis|
|negative regulation of cell cycle|
|positive regulation of kinase activity|
|cation transmembrane transport|
|cell surface|
|Golgi membrane|
|metal ion homeostasis|
|regulation of mitotic cell cycle|
|chordate embryonic development|
|cellular cation homeostasis|
|metal ion transport|
|cellular ion homeostasis|
|inorganic ion transmembrane transport|
|embryo development ending in birth or egg hatching|
|tube morphogenesis|
|positive regulation of transferase activity|
|developmental process involved in reproduction|
|regulation of cell adhesion|
|detection of stimulus|
|cation homeostasis|
|inorganic ion homeostasis|
|regulation of proteolysis|
|cellular chemical homeostasis|
|regulation of cell cycle process|
|ion homeostasis|
|regulation of protein kinase activity|
|cation transport|
|regulation of cellular catabolic process|
|tube development|
|circulatory system development|
|regulation of kinase activity|
|peptidyl-amino acid modification|
|cellular homeostasis|
|cell adhesion|
|biological adhesion|
|ion transmembrane transport|
|animal organ morphogenesis|
|protein phosphorylation|
|regulation of transferase activity|
|embryo development|
|central nervous system development|
|Golgi apparatus|
|intracellular protein transport|
|regulation of catabolic process|
|cell cycle process|
|endoplasmic reticulum|
|positive regulation of protein phosphorylation|
|positive regulation of phosphorylation|
|chemical homeostasis|
|epithelium development|
|cell-cell signaling|
|positive regulation of phosphate metabolic process|
|positive regulation of phosphorus metabolic process|
|negative regulation of molecular function|
|response to abiotic stimulus|
|regulation of cell cycle|
|positive regulation of transcription by RNA polymerase II|
|positive regulation of protein modification process|
|transmembrane transport|
|phosphorylation|
|regulation of organelle organization|
|cell cycle|
|ion transport|
|integral component of plasma membrane|
|reproductive process|
|reproduction|
|positive regulation of catalytic activity|
|regulation of protein phosphorylation|
|protein transport|
|intracellular transport|
|peptide transport|
|positive regulation of transcription, DNA-templated|
|protein-containing complex assembly|
|amide transport|
|cellular protein localization|
|regulation of phosphorylation|
|cellular macromolecule localization|
|positive regulation of cellular protein metabolic process|
|establishment of protein localization|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|homeostatic process|
|positive regulation of protein metabolic process|
|positive regulation of RNA metabolic process|
|tissue development|
|positive regulation of molecular function|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|establishment of localization in cell|
|regulation of protein modification process|
|nitrogen compound transport|
|protein-containing complex subunit organization|
|positive regulation of nucleobase-containing compound metabolic process|
|positive regulation of macromolecule biosynthetic process|
|positive regulation of cellular biosynthetic process|
|positive regulation of gene expression|
|positive regulation of biosynthetic 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>**: 3815
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 7.82 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='PKD1 Expression in NALM6 Cells: 7.82'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>