SLC12A1 [The Human Chemical-Genetic Interaction Map Project]

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======= SLC12A1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: SLC12A1
  * **<color #00a2e8>Official Name</color>**: solute carrier family 12 member 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=6557|6557]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q13621|Q13621]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=SLC12A1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20SLC12A1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/600839|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity in humans has not been experimentally proven.[provided by RefSeq, May 2010]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume.

<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'>
|AA permease N|
|AA permease|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|sodium:chloride symporter activity|
|sodium:potassium:chloride symporter activity|
|sodium ion transmembrane transporter activity|
|potassium:chloride symporter activity|
|chloride ion homeostasis|
|monovalent inorganic anion homeostasis|
|cell volume homeostasis|
|potassium ion homeostasis|
|sodium ion homeostasis|
|potassium ion import across plasma membrane|
|anion homeostasis|
|inorganic cation import across plasma membrane|
|inorganic ion import across plasma membrane|
|chloride transmembrane transport|
|sodium ion transmembrane transport|
|import across plasma membrane|
|chloride transport|
|inorganic anion transmembrane transport|
|monovalent inorganic cation homeostasis|
|sodium ion transport|
|inorganic anion transport|
|potassium ion transmembrane transport|
|potassium ion transport|
|regulation of cell size|
|anion transmembrane transport|
|apical plasma membrane|
|regulation of cellular component size|
|monovalent inorganic cation transport|
|regulation of anatomical structure size|
|inorganic cation transmembrane transport|
|anion transport|
|cation transmembrane transport|
|metal ion homeostasis|
|metal ion transport|
|inorganic ion transmembrane transport|
|import into cell|
|cation homeostasis|
|inorganic ion homeostasis|
|ion homeostasis|
|cation transport|
|cellular homeostasis|
|ion transmembrane transport|
|chemical homeostasis|
|transmembrane transport|
|ion transport|
|homeostatic process|
|membrane|
</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:exp421|VHL-ligand-1 20μM R07 exp421]]|1.92|
</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>**: 10778
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -0.64 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='SLC12A1 Expression in NALM6 Cells: -0.64'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>