PDZK1 [The Human Chemical-Genetic Interaction Map Project]

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======= PDZK1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: PDZK1
  * **<color #00a2e8>Official Name</color>**: PDZ domain containing 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=5174|5174]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q5T2W1|Q5T2W1]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=PDZK1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PDZK1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/603831|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a PDZ domain-containing scaffolding protein. PDZ domain-containing molecules bind to and mediate the subcellular localization of target proteins. The encoded protein mediates the localization of cell surface proteins and plays a critical role in cholesterol metabolism by regulating the HDL receptor, scavenger receptor class B type 1. Single nucleotide polymorphisms in this gene may be associated with metabolic syndrome, and overexpression of this gene may play a role in drug resistance of multiple myeloma. Pseudogenes of this gene are located on the long arm of chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]. 
  * **<color #00a2e8>UniProt Summary</color>**:  A scaffold protein that connects plasma membrane proteins and regulatory components, regulating their surface expression in epithelial cells apical domains. May be involved in the coordination of a diverse range of regulatory processes for ion transport and second messenger cascades. In complex with SLC9A3R1, may cluster proteins that are functionally dependent in a mutual fashion and modulate the trafficking and the activity of the associated membrane proteins. May play a role in the cellular mechanisms associated with multidrug resistance through its interaction with ABCC2 and PDZK1IP1. May potentiate the CFTR chloride channel activity. Required for normal cell-surface expression of SCARB1. Plays a role in maintaining normal plasma cholesterol levels via its effects on SCARB1. Plays a role in the normal localization and function of the chloride-anion exchanger SLC26A6 to the plasma membrane in the brush border of the proximal tubule of the kidney. May be involved in the regulation of proximal tubular Na(+)-dependent inorganic phosphate cotransport therefore playing an important role in tubule function (By similarity). {ECO:0000250}.

<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'>
|PDZ|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|scavenger receptor binding|
|carnitine transport|
|amino-acid betaine transport|
|xenobiotic detoxification by transmembrane export across the plasma membrane|
|quaternary ammonium group transport|
|xenobiotic transport|
|microvillus membrane|
|modified amino acid transport|
|positive regulation of protein targeting to membrane|
|organic cation transport|
|regulation of protein targeting to membrane|
|export across plasma membrane|
|ammonium transport|
|brush border membrane|
|regulation of protein targeting|
|PDZ domain binding|
|regulation of anion transport|
|positive regulation of ion transmembrane transporter activity|
|positive regulation of transporter activity|
|positive regulation of protein localization to membrane|
|detoxification|
|positive regulation of cation transmembrane transport|
|positive regulation of intracellular protein transport|
|positive regulation of ion transmembrane transport|
|regulation of protein localization to membrane|
|positive regulation of transmembrane transport|
|positive regulation of intracellular transport|
|membrane raft|
|regulation of intracellular protein transport|
|regulation of ion transmembrane transporter activity|
|regulation of transmembrane transporter activity|
|protein-containing complex binding|
|positive regulation of ion transport|
|regulation of transporter activity|
|apical plasma membrane|
|positive regulation of cellular protein localization|
|regulation of cation transmembrane transport|
|regulation of intracellular transport|
|positive regulation of protein transport|
|positive regulation of establishment of protein localization|
|regulation of ion transmembrane transport|
|response to toxic substance|
|regulation of cellular protein localization|
|cell population proliferation|
|regulation of transmembrane transport|
|regulation of ion transport|
|regulation of protein transport|
|regulation of peptide transport|
|regulation of establishment of protein localization|
|cation transport|
|regulation of cellular localization|
|positive regulation of transport|
|regulation of protein localization|
|export from cell|
|transmembrane transport|
|ion transport|
|positive regulation of molecular function|
|nitrogen compound transport|
|regulation of transport|
</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:exp135|MS023 7μM R03 exp135]]|-2.4|
|[[:results:exp458|Bisphenol S 100μM R08 exp458]]|1.75|
</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>**: 11554
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 1.94 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='PDZK1 Expression in NALM6 Cells: 1.94'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>