SLC5A7 [The Human Chemical-Genetic Interaction Map Project]

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======= SLC5A7 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: SLC5A7
  * **<color #00a2e8>Official Name</color>**: solute carrier family 5 member 7
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=60482|60482]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9GZV3|Q9GZV3]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=SLC5A7&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20SLC5A7|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/608761|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a sodium ion- and chloride ion-dependent high-affinity transporter that mediates choline uptake for acetylcholine synthesis in cholinergic neurons. The protein transports choline from the extracellular space into presynaptic terminals for synthesis into acetylcholine. Increased choline uptake results from increased density of this protein in synaptosomal plasma membranes in response to depolarization of cholinergic terminals. Dysfunction of cholinergic signaling has been implicated in various disorders including depression, attention-deficit disorder, and schizophrenia. An allelic variant of this gene is associated with autosomal dominant distal hereditary motor neuronopathy type VIIA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Transmembrane transporter that imports choline from the extracellular space into the neuron with high affinity. Choline uptake is the rate-limiting step in acetylcholine synthesis. Sodium ion- and chloride ion-dependent. {ECO:0000269|PubMed:11027560, ECO:0000269|PubMed:27569547}.

<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'>
|SSF|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|choline:sodium symporter activity|
|acetate ester biosynthetic process|
|acetylcholine biosynthetic process|
|choline binding|
|acetylcholine metabolic process|
|choline transmembrane transporter activity|
|acetate ester metabolic process|
|choline transport|
|synaptic transmission, cholinergic|
|organic cation transport|
|neuromuscular synaptic transmission|
|neurotransmitter biosynthetic process|
|ammonium transport|
|hormone biosynthetic process|
|neuromuscular junction|
|neurotransmitter metabolic process|
|presynapse|
|signal release from synapse|
|neurotransmitter secretion|
|perikaryon|
|sodium ion transport|
|signal release|
|neurotransmitter transport|
|ammonium ion metabolic process|
|hormone metabolic process|
|synapse|
|axon|
|regulation of neurotransmitter levels|
|in utero embryonic development|
|monovalent inorganic cation transport|
|chemical synaptic transmission|
|anterograde trans-synaptic signaling|
|dendrite|
|trans-synaptic signaling|
|synaptic signaling|
|drug metabolic process|
|regulation of hormone levels|
|cell junction|
|chordate embryonic development|
|metal ion transport|
|embryo development ending in birth or egg hatching|
|cation transport|
|embryo development|
|secretion by cell|
|export from cell|
|cell-cell signaling|
|secretion|
|transmembrane transport|
|ion transport|
|establishment of localization in cell|
|nitrogen compound 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:exp357|Dorsomorphin 5μM R07 exp357]]|-1.84|
</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>**: 16686
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -0.93 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='SLC5A7 Expression in NALM6 Cells: -0.93'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>