SLC19A3 [The Human Chemical-Genetic Interaction Map Project]

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======= SLC19A3 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: SLC19A3
  * **<color #00a2e8>Official Name</color>**: solute carrier family 19 member 3
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=80704|80704]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9BZV2|Q9BZV2]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=SLC19A3&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20SLC19A3|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/606152|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild cognitive disability, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.[provided by RefSeq, Jan 2010]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Mediates high affinity thiamine uptake, probably via a proton anti-port mechanism. Has no folate transport activity. {ECO:0000269|PubMed:11731220}.

<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'>
|MFS 1|
|Folate carrier|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|thiamine transmembrane transporter activity|
|thiamine transmembrane transport|
|thiamine transport|
|thiamine-containing compound metabolic process|
|pyrimidine-containing compound transmembrane transport|
|vitamin transmembrane transport|
|azole transport|
|vitamin transport|
|sulfur compound transport|
|drug transmembrane transport|
|water-soluble vitamin metabolic process|
|pyrimidine-containing compound metabolic process|
|vitamin metabolic process|
|drug transport|
|sulfur compound metabolic process|
|drug metabolic process|
|response to drug|
|transmembrane transport|
|small molecule metabolic process|
|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:exp114|A-196 10μM R03 exp114]]|1.76|
</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: 1/739
^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|1/16|
|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>**: 18589
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 2.43 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='SLC19A3 Expression in NALM6 Cells: 2.43'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>