======= MCOLN1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: MCOLN1
  * **<color #00a2e8>Official Name</color>**: mucolipin 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=57192|57192]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9GZU1|Q9GZU1]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=MCOLN1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20MCOLN1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/605248|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV. [provided by RefSeq, Oct 2009]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Nonselective cation channel probably playing a role in the regulation of membrane trafficking events and of metal homeostasis. Proposed to play a major role in Ca(2+) release from late endosome and lysosome vesicles to the cytoplasm, which is important for many lysosome-dependent cellular events, including the fusion and trafficking of these organelles, exocytosis and autophagy (PubMed:11013137, PubMed:12459486, PubMed:15336987, PubMed:14749347, PubMed:29019983). Required for efficient uptake of large particles in macrophages in which Ca(2+) release from the lysosomes triggers lysosomal exocytosis. May also play a role in phagosome-lysosome fusion (By similarity). Involved in lactosylceramide trafficking indicative for a role in the regulation of late endocytic membrane fusion/fission events (PubMed:16978393). By mediating lysosomal Ca(2+) release is involved in regulation of mTORC1 signaling and in mTOR/TFEB- dependent lysosomal adaptation to environmental cues such as nutrient levels (PubMed:27787197, PubMed:25733853). Seems to act as lysosomal active oxygen species (ROS) sensor involved in ROS- induced TFEB activation and autophagy (PubMed:27357649). Functions as a Fe(2+) permeable channel in late endosomes and lysosomes (PubMed:18794901). Proposed to play a role in zinc homeostasis probably implicating its association with TMEM163 (PubMed:25130899) In adaptive immunity, TRPML2 and TRPML1 may play redundant roles in the function of the specialized lysosomes of B cells (By similarity). {ECO:0000250|UniProtKB:Q99J21, ECO:0000269|PubMed:12459486, ECO:0000269|PubMed:14749347, ECO:0000269|PubMed:15336987, ECO:0000269|PubMed:16978393, ECO:0000269|PubMed:18794901, ECO:0000269|PubMed:25130899, ECO:0000269|PubMed:25733853, ECO:0000269|PubMed:27357649, ECO:0000269|PubMed:27787197, ECO:0000269|PubMed:29019983, ECO:0000305|PubMed:11013137}.

<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'>
|intracellular phosphatidylinositol-3,5-bisphosphate-sensitive cation channel activity|
|ligand-gated calcium channel activity|
|NAADP-sensitive calcium-release channel activity|
|iron ion transmembrane transporter activity|
|iron ion transmembrane transport|
|cation channel activity|
|cellular response to pH|
|phagocytic cup|
|autophagosome maturation|
|transferrin transport|
|response to pH|
|release of sequestered calcium ion into cytosol|
|negative regulation of sequestering of calcium ion|
|calcium ion transmembrane import into cytosol|
|iron ion transport|
|calcium ion transport into cytosol|
|phagocytic vesicle membrane|
|cellular response to calcium ion|
|cytosolic calcium ion transport|
|protein homotetramerization|
|cell projection|
|late endosome membrane|
|transition metal ion transport|
|regulation of sequestering of calcium ion|
|late endosome|
|calcium-mediated signaling|
|protein tetramerization|
|response to calcium ion|
|lipid binding|
|macroautophagy|
|cellular response to metal ion|
|calcium ion transmembrane transport|
|receptor complex|
|endosome membrane|
|cellular response to inorganic substance|
|protein-containing complex disassembly|
|calcium ion transport|
|lysosome|
|autophagy|
|process utilizing autophagic mechanism|
|positive regulation of cytosolic calcium ion concentration|
|divalent metal ion transport|
|lysosomal membrane|
|divalent inorganic cation transport|
|cellular response to environmental stimulus|
|cellular response to abiotic stimulus|
|regulation of cytosolic calcium ion concentration|
|second-messenger-mediated signaling|
|protein homooligomerization|
|response to metal ion|
|cellular component disassembly|
|cellular calcium ion homeostasis|
|calcium ion homeostasis|
|cellular divalent inorganic cation homeostasis|
|divalent inorganic cation homeostasis|
|protein complex oligomerization|
|response to inorganic substance|
|cellular metal ion homeostasis|
|inorganic cation transmembrane transport|
|adaptive immune response|
|cation transmembrane transport|
|metal ion homeostasis|
|cellular cation homeostasis|
|metal ion transport|
|cellular ion homeostasis|
|inorganic ion transmembrane transport|
|cation homeostasis|
|inorganic ion homeostasis|
|cellular chemical homeostasis|
|ion homeostasis|
|cation transport|
|cellular homeostasis|
|ion transmembrane transport|
|chemical homeostasis|
|response to abiotic stimulus|
|transmembrane transport|
|ion transport|
|integral component of plasma membrane|
|protein transport|
|peptide transport|
|protein-containing complex assembly|
|amide transport|
|establishment of protein localization|
|homeostatic process|
|intracellular signal transduction|
|cellular catabolic process|
|establishment of localization in cell|
|nitrogen compound transport|
|protein-containing complex subunit organization|
|immune response|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' 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:exp4|Actinomycin-D 0.01μM R00 exp4]]|-1.71|
|[[:results:exp390|Pifithrin-alpha 20μM R07 exp390]]|1.87|
|[[:results:exp191|Hypoxia 5%O2 R04 exp191]]|1.95|
|[[:results:exp510|Nicotine 3000μM R08 exp510]]|2.34|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:p:polr2j3|POLR2J3]]|0.548|
|[[:human genes:t:tbc1d3h|TBC1D3H]]|0.536|
|[[:human genes:t:tbc1d3c|TBC1D3C]]|0.501|
|[[:human genes:n:nol12|NOL12]]|0.494|
|[[:human genes:t:tbc1d3g|TBC1D3G]]|0.492|
|[[:human genes:t:tceb3cl2|TCEB3CL2]]|0.492|
|[[:human genes:t:tceb3cl|TCEB3CL]]|0.485|
|[[:human genes:t:tceb3c|TCEB3C]]|0.477|
|[[:human genes:t:tbc1d3l|TBC1D3L]]|0.472|
|[[:human genes:t:tbc1d3k|TBC1D3K]]|0.472|
|[[:human genes:t:tbc1d3e|TBC1D3E]]|0.471|
|[[:human genes:t:tbc1d3i|TBC1D3I]]|0.471|
|[[:human genes:k:krt78|KRT78]]|0.467|
|[[:human genes:t:tbc1d3f|TBC1D3F]]|0.465|
|[[:human genes:d:ddtl|DDTL]]|0.464|
|[[:human genes:s:slc6a17|SLC6A17]]|0.462|
|[[:human genes:c:c14orf93|C14orf93]]|0.461|
|[[:human genes:p:psmd2|PSMD2]]|0.454|
|[[:human genes:t:tbc1d3|TBC1D3]]|0.445|
|[[:human genes:p:pole|POLE]]|0.442|
|[[:human genes:r:rps2|RPS2]]|0.441|
|[[:human genes:h:hgc6.3|HGC6.3]]|0.441|
|[[:human genes:r:rps12|RPS12]]|0.439|
|[[:human genes:d:dtl|DTL]]|0.435|
|[[:human genes:u:upf1|UPF1]]|0.426|
|[[:human genes:p:psmc2|PSMC2]]|0.426|
|[[:human genes:p:psmb2|PSMB2]]|0.426|
|[[:human genes:p:psmb4|PSMB4]]|0.426|
|[[:human genes:d:ddt|DDT]]|0.426|
|[[:human genes:r:rbbp5|RBBP5]]|0.425|
|[[:human genes:c:ccdc116|CCDC116]]|0.421|
|[[:human genes:p:psma6|PSMA6]]|0.421|
|[[:human genes:m:madcam1|MADCAM1]]|0.42|
|[[:human genes:r:rrp15|RRP15]]|0.419|
|[[:human genes:t:twistnb|TWISTNB]]|0.418|
|[[:human genes:a:ankle1|ANKLE1]]|0.418|
|[[:human genes:n:npipb5|NPIPB5]]|0.418|
|[[:human genes:w:wdr87|WDR87]]|0.414|
|[[:human genes:u:utp20|UTP20]]|0.414|
|[[:human genes:c:chd4|CHD4]]|0.412|
|[[:human genes:o:orc1|ORC1]]|0.411|
|[[:human genes:n:nupl1|NUPL1]]|0.41|
|[[:human genes:r:rpl6|RPL6]]|0.41|
|[[:human genes:p:psmb1|PSMB1]]|0.41|
|[[:human genes:r:rrp7a|RRP7A]]|0.409|
|[[:human genes:a:aamp|AAMP]]|0.409|
|[[:human genes:z:znf106|ZNF106]]|0.409|
|[[:human genes:c:cgb2|CGB2]]|0.407|
|[[:human genes:c:cbwd5|CBWD5]]|0.407|
|[[:human genes:d:dock6|DOCK6]]|0.405|
|[[:human genes:r:rpl35|RPL35]]|0.404|
|[[:human genes:m:mphosph10|MPHOSPH10]]|0.403|
|[[:human genes:p:plrg1|PLRG1]]|0.402|
|[[:human genes:s:syt9|SYT9]]|0.402|
|[[:human genes:c:cbwd3|CBWD3]]|0.4|
|[[:human genes:a:atp6v1a|ATP6V1A]]|0.4|
</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>**: 2235
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.53 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='MCOLN1 Expression in NALM6 Cells: 4.53'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>