======= CLN5 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: CLN5
  * **<color #00a2e8>Official Name</color>**: CLN5 intracellular trafficking protein
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=1203|1203]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O75503|O75503]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=CLN5&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CLN5|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/608102|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function.[provided by RefSeq, Oct 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Plays a role in influencing the retrograde trafficking of lysosomal sorting receptors SORT1 and IGF2R from the endosomes to the trans-Golgi network by controlling the recruitment of retromer complex to the endosomal membrane. Regulates the localization and activation of RAB7A which is required to recruit the retromer complex to the endosomal membrane (PubMed:22431521). {ECO:0000269|PubMed:22431521}.

<button type='default' 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'>
No Pfam Domain information is available for this gene.
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<modal id='GO_terms' size='lg' title='GO Terms'>
|positive regulation of GTP binding|
|lysosomal lumen acidification|
|regulation of GTP binding|
|regulation of lysosomal lumen pH|
|signal peptide processing|
|vacuolar acidification|
|mannose binding|
|neuron maturation|
|intracellular pH reduction|
|pH reduction|
|lytic vacuole organization|
|lysosome organization|
|regulation of intracellular pH|
|regulation of cellular pH|
|retrograde transport, endosome to Golgi|
|regulation of pH|
|cellular monovalent inorganic cation homeostasis|
|vacuole organization|
|anatomical structure maturation|
|monovalent inorganic cation homeostasis|
|cytosolic transport|
|protein processing|
|cell maturation|
|positive regulation of binding|
|protein maturation|
|endosomal transport|
|developmental maturation|
|lysosome|
|glycosylation|
|lysosomal membrane|
|regulation of binding|
|peptide metabolic process|
|cellular cation homeostasis|
|cellular ion homeostasis|
|protein catabolic process|
|perinuclear region of cytoplasm|
|cation homeostasis|
|inorganic ion homeostasis|
|brain development|
|cellular chemical homeostasis|
|head development|
|ion homeostasis|
|cellular amide metabolic process|
|neuron development|
|cellular homeostasis|
|central nervous system development|
|Golgi apparatus|
|endoplasmic reticulum|
|neuron differentiation|
|macromolecule catabolic process|
|organonitrogen compound catabolic process|
|chemical homeostasis|
|proteolysis|
|intracellular transport|
|generation of neurons|
|neurogenesis|
|homeostatic process|
|cell development|
|organic substance catabolic process|
|positive regulation of molecular function|
|establishment of localization in cell|
|vesicle-mediated transport|
|gene expression|
</modal>
\\

 === CRISPR Data ===
<button type='default' 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'>
No hits were found.
</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>**: 18270
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.48 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='CLN5 Expression in NALM6 Cells: 4.48'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>