CTNS [The Human Chemical-Genetic Interaction Map Project]

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======= CTNS =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: CTNS
  * **<color #00a2e8>Official Name</color>**: cystinosin, lysosomal cystine transporter
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=1497|1497]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O60931|O60931]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=CTNS&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CTNS|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/606272|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Cystine/H(+) symporter thought to transport cystine out of lysosomes. Plays an important role in melanin synthesis, possibly by preventing melanosome acidification and subsequent degradation of tyrosinase TYR. {ECO:0000269|PubMed:22649030}.

<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'>
|PQ-loop|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|negative regulation of hydrogen peroxide biosynthetic process|
|L-cystine transport|
|L-cystine transmembrane transporter activity|
|sulfur amino acid transport|
|negative regulation of hydrogen peroxide metabolic process|
|negative regulation of cofactor metabolic process|
|regulation of hydrogen peroxide biosynthetic process|
|positive regulation of mitochondrial membrane potential|
|melanin biosynthetic process|
|grooming behavior|
|melanin metabolic process|
|positive regulation of membrane potential|
|secondary metabolite biosynthetic process|
|regulation of hydrogen peroxide metabolic process|
|modified amino acid transport|
|vacuolar membrane|
|negative regulation of reactive oxygen species biosynthetic process|
|adult walking behavior|
|walking behavior|
|long-term memory|
|phenol-containing compound biosynthetic process|
|regulation of cofactor metabolic process|
|neutral amino acid transport|
|sulfur compound transport|
|intermediate filament cytoskeleton|
|visual learning|
|pigment biosynthetic process|
|visual behavior|
|negative regulation of reactive oxygen species metabolic process|
|secondary metabolic process|
|glutathione metabolic process|
|L-amino acid transport|
|pigment metabolic process|
|regulation of mitochondrial membrane potential|
|adult locomotory behavior|
|lens development in camera-type eye|
|associative learning|
|phenol-containing compound metabolic process|
|regulation of reactive oxygen species biosynthetic process|
|melanosome|
|memory|
|amino acid transport|
|late endosome|
|adult behavior|
|learning|
|regulation of reactive oxygen species metabolic process|
|organic hydroxy compound biosynthetic process|
|locomotory behavior|
|cellular modified amino acid metabolic process|
|ATP metabolic process|
|lysosome|
|early endosome|
|learning or memory|
|carboxylic acid transport|
|organic acid transport|
|cognition|
|lysosomal membrane|
|response to light stimulus|
|cellular amino acid metabolic process|
|camera-type eye development|
|eye development|
|visual system development|
|sulfur compound metabolic process|
|sensory system development|
|regulation of membrane potential|
|cofactor metabolic process|
|response to radiation|
|organic hydroxy compound metabolic process|
|organic anion transport|
|peptide metabolic process|
|sensory organ development|
|behavior|
|anion transport|
|intracellular membrane-bounded organelle|
|brain development|
|head development|
|cellular amide metabolic process|
|carboxylic acid metabolic process|
|central nervous system development|
|oxoacid metabolic process|
|organic acid metabolic process|
|response to abiotic stimulus|
|aromatic compound biosynthetic process|
|transmembrane transport|
|organic cyclic compound biosynthetic process|
|ion transport|
|nervous system process|
|negative regulation of cellular biosynthetic process|
|negative regulation of biosynthetic process|
|small molecule metabolic process|
|nitrogen compound transport|
|system process|
</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:exp80|RO-3307 4.7μM R02 exp80]]|-1.76|
|[[:results:exp274|Citral 50μM R06 exp274]]|1.89|
|[[:results:exp316|Geldanamycin 0.015 to 0.025μM on day4 R07 exp316]]|2.01|
|[[:results:exp317|Geldanamycin 0.015 to 0.05μM on day4 R07 exp317]]|2.5|
</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>**: 9713
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.59 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='CTNS Expression in NALM6 Cells: 5.59'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>