MTM1 [The Human Chemical-Genetic Interaction Map Project]

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======= MTM1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: MTM1
  * **<color #00a2e8>Official Name</color>**: myotubularin 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=4534|4534]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q13496|Q13496]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=MTM1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20MTM1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/300415|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2). Has also been shown to dephosphorylate phosphotyrosine- and phosphoserine- containing peptides. Negatively regulates EGFR degradation through regulation of EGFR trafficking from the late endosome to the lysosome. Plays a role in vacuolar formation and morphology. Regulates desmin intermediate filament assembly and architecture. Plays a role in mitochondrial morphology and positioning. Required for skeletal muscle maintenance but not for myogenesis. {ECO:0000269|PubMed:10900271, ECO:0000269|PubMed:11001925, ECO:0000269|PubMed:12646134, ECO:0000269|PubMed:14722070, ECO:0000269|PubMed:21135508, ECO:0000269|PubMed:9537414}.

<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'>
|GRAM|
|Myotub-related|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|positive regulation of skeletal muscle tissue growth|
|regulation of skeletal muscle tissue growth|
|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|
|intermediate filament binding|
|phosphatidylinositol-3-phosphatase activity|
|negative regulation of autophagosome assembly|
|mitochondrion distribution|
|I band|
|muscle cell cellular homeostasis|
|mitochondrion morphogenesis|
|phosphatidylinositol dephosphorylation|
|intermediate filament organization|
|positive regulation of skeletal muscle tissue development|
|negative regulation of macroautophagy|
|phospholipid dephosphorylation|
|regulation of autophagosome assembly|
|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|
|negative regulation of organelle assembly|
|phosphoprotein phosphatase activity|
|regulation of vacuole organization|
|negative regulation of protein kinase B signaling|
|mitochondrion localization|
|negative regulation of ubiquitin-dependent protein catabolic process|
|intermediate filament cytoskeleton organization|
|negative regulation of TOR signaling|
|regulation of skeletal muscle tissue development|
|intermediate filament-based process|
|endosome to lysosome transport|
|negative regulation of proteasomal protein catabolic process|
|positive regulation of muscle organ development|
|positive regulation of striated muscle tissue development|
|positive regulation of muscle tissue development|
|filopodium|
|negative regulation of proteolysis involved in cellular protein catabolic process|
|negative regulation of autophagy|
|negative regulation of cellular protein catabolic process|
|phosphatidylinositol binding|
|ruffle|
|protein tyrosine phosphatase activity|
|regulation of TOR signaling|
|peptidyl-tyrosine dephosphorylation|
|lysosomal transport|
|phosphatidylinositol biosynthetic process|
|regulation of proteasomal ubiquitin-dependent protein catabolic process|
|late endosome|
|regulation of striated muscle tissue development|
|negative regulation of protein catabolic process|
|regulation of muscle tissue development|
|regulation of muscle organ development|
|vacuolar transport|
|regulation of ubiquitin-dependent protein catabolic process|
|phosphatidylinositol metabolic process|
|positive regulation of developmental growth|
|regulation of macroautophagy|
|regulation of proteasomal protein catabolic process|
|lipid modification|
|glycerophospholipid biosynthetic process|
|protein dephosphorylation|
|regulation of proteolysis involved in cellular protein catabolic process|
|regulation of protein kinase B signaling|
|regulation of organelle assembly|
|glycerolipid biosynthetic process|
|phospholipid biosynthetic process|
|regulation of cellular protein catabolic process|
|negative regulation of cellular catabolic process|
|positive regulation of growth|
|glycerophospholipid metabolic process|
|dephosphorylation|
|negative regulation of catabolic process|
|regulation of developmental growth|
|regulation of autophagy|
|anatomical structure homeostasis|
|negative regulation of proteolysis|
|negative regulation of organelle organization|
|phospholipid metabolic process|
|glycerolipid metabolic process|
|regulation of protein catabolic process|
|mitochondrion organization|
|supramolecular fiber organization|
|negative regulation of intracellular signal transduction|
|cell part morphogenesis|
|organophosphate biosynthetic process|
|lipid biosynthetic process|
|organelle localization|
|regulation of growth|
|negative regulation of cellular component organization|
|regulation of proteolysis|
|cellular component morphogenesis|
|regulation of cellular catabolic process|
|organophosphate metabolic process|
|cellular homeostasis|
|cellular lipid metabolic process|
|regulation of cellular component biogenesis|
|regulation of catabolic process|
|negative regulation of cellular protein metabolic process|
|negative regulation of protein metabolic process|
|cytoskeleton organization|
|lipid metabolic process|
|negative regulation of signal transduction|
|regulation of organelle organization|
|negative regulation of cell communication|
|negative regulation of signaling|
|positive regulation of developmental process|
|protein transport|
|intracellular transport|
|peptide transport|
|amide transport|
|establishment of protein localization|
|negative regulation of response to stimulus|
|homeostatic process|
|positive regulation of multicellular organismal process|
|regulation of intracellular signal transduction|
|establishment of localization in cell|
|nitrogen compound transport|
|vesicle-mediated 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:exp334|All-trans-Retinoic-Acid 40μM R07 exp334]]|-1.92|
|[[:results:exp125|GSK461364A 0.005μM R03 exp125]]|1.89|
</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: 0/694
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/26|
|bone|0/26|
|breast|0/30|
|central nervous system|0/49|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/11|
|fibroblast|0/1|
|gastric|0/14|
|kidney|0/18|
|liver|0/19|
|lung|0/72|
|lymphocyte|0/16|
|ovary|0/25|
|pancreas|0/22|
|peripheral nervous system|0/15|
|plasma cell|0/12|
|prostate|0/1|
|skin|0/20|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/28|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 11950
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 3.06 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='MTM1 Expression in NALM6 Cells: 3.06'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>