MTM1

Gene Information

Official Symbol: MTM1
Official Name: myotubularin 1
Aliases and Previous Symbols: N/A
Entrez ID: 4534
UniProt: Q13496
Interactions: BioGRID
PubMed articles: Open PubMed
OMIM: Open OMIM

Function Summary

Entrez Summary: 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].
UniProt Summary: 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}.

Pfam Domains GO Terms

CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics 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

Essentiality in NALM6

Essentiality Rank: 11950
Expression level (log2 read counts): 3.06

Expression Distribution

Screen	Score
All-trans-Retinoic-Acid 40μM R07 exp334	-1.92
GSK461364A 0.005μM R03 exp125	1.89

GRAM
Myotub-related

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