MCOLN3 [The Human Chemical-Genetic Interaction Map Project]

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======= MCOLN3 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: MCOLN3
  * **<color #00a2e8>Official Name</color>**: mucolipin 3
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=55283|55283]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q8TDD5|Q8TDD5]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=MCOLN3&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20MCOLN3|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607400|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**: N/A
  * **<color #00a2e8>UniProt Summary</color>**:  Nonselective ligand-gated cation channel probably playing a role in the regulation of membrane trafficking events. Acts as Ca(2+)-permeable cation channel with inwardly rectifying activity (PubMed:18369318, PubMed:19497048, PubMed:19522758, PubMed:19885840, PubMed:29106414). Mediates release of Ca(2+) from endosomes to the cytoplasm, contributes to endosomal acidification and is involved in the regulation of membrane trafficking and fusion in the endosomal pathway (PubMed:21245134). Does not seem to act as mechanosensory transduction channel in inner ear sensory hair cells. Proposed to play a critical role at the cochlear stereocilia ankle-link region during hair-bundle growth (By similarity). Involved in the regulation of autophagy (PubMed:19522758). Through association with GABARAPL2 may be involved in autophagosome formation possibly providing Ca(2+) for the fusion process (By similarity). Through a possible and probably tissue-specific heteromerization with MCOLN1 may be at least in part involved in many lysosome-dependent cellular events (PubMed:19885840). Possible heteromeric ion channel assemblies with TRPV5 show pharmacological similarity with TRPML3 (PubMed:23469151). {ECO:0000250|UniProtKB:Q8R4F0, ECO:0000269|PubMed:18369318, ECO:0000269|PubMed:19497048, ECO:0000269|PubMed:19522758, ECO:0000269|PubMed:19885840, ECO:0000269|PubMed:20378547, ECO:0000269|PubMed:21245134, ECO:0000269|PubMed:23469151, ECO:0000269|PubMed:29106414, ECO:0000305}.

<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'>
|PKD channel|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|NAADP-sensitive calcium-release channel activity|
|inner ear auditory receptor cell differentiation|
|autophagosome membrane|
|hair cell differentiation|
|neuroepithelial cell differentiation|
|inner ear receptor cell differentiation|
|release of sequestered calcium ion into cytosol|
|negative regulation of sequestering of calcium ion|
|mechanoreceptor differentiation|
|calcium ion transmembrane import into cytosol|
|calcium ion transport into cytosol|
|cytosolic calcium ion transport|
|columnar/cuboidal epithelial cell differentiation|
|late endosome membrane|
|regulation of sequestering of calcium ion|
|early endosome membrane|
|lipid binding|
|inner ear development|
|locomotory behavior|
|calcium ion transmembrane transport|
|ear development|
|calcium ion transport|
|positive regulation of cytosolic calcium ion concentration|
|divalent metal ion transport|
|lysosomal membrane|
|divalent inorganic cation transport|
|epidermal cell differentiation|
|regulation of cytosolic calcium ion concentration|
|epidermis development|
|cellular calcium ion homeostasis|
|calcium ion homeostasis|
|cellular divalent inorganic cation homeostasis|
|divalent inorganic cation homeostasis|
|sensory organ development|
|cellular metal ion homeostasis|
|inorganic cation transmembrane transport|
|behavior|
|cation transmembrane transport|
|metal ion homeostasis|
|cellular cation homeostasis|
|metal ion transport|
|cellular ion homeostasis|
|inorganic ion transmembrane transport|
|epithelial cell differentiation|
|cation homeostasis|
|inorganic ion homeostasis|
|cellular chemical homeostasis|
|ion homeostasis|
|cation transport|
|cellular homeostasis|
|ion transmembrane transport|
|neuron differentiation|
|chemical homeostasis|
|epithelium development|
|transmembrane transport|
|ion transport|
|generation of neurons|
|neurogenesis|
|homeostatic process|
|tissue development|
|establishment of localization in cell|
</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:exp140|Nicotinate 1000μM R03 exp140]]|-1.74|
|[[:results:exp308|Rapamycin 2μM plus FK-506 5μM R07 exp308]]|1.77|
</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>**: 10939
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 2.49 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='MCOLN3 Expression in NALM6 Cells: 2.49'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>