Myotubularin 1

MTM1
Identifiers
Aliases	MTM1, CNM, MTMX, XLMTM, Myotubularin 1, myotubularin, CNMX
External IDs	OMIM: 300415; MGI: 1099452; HomoloGene: 37279; GeneCards: MTM1; OMA:MTM1 - orthologs
Gene location (Human)
Chr.	X chromosome (human)
End	150,673,143 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	70,359,297 bp
RNA expression pattern
	Top expressed in
	secondary oocyte; ; rectum; ; germinal epithelium; ; monocyte; ; mucosa of colon; ; mucosa of sigmoid colon; ; jejunal mucosa; ; epithelium of colon; ; Achilles tendon; ; bone marrow cells;
	Top expressed in
	left colon; ; jejunum; ; Epithelium of choroid plexus; ; lobe of cerebellum; ; ileum; ; soleus muscle; ; cerebellar vermis; ; brown adipose tissue; ; granulocyte; ; myocardium of ventricle;
	More reference expression data
	n/a
Gene ontology
Molecular function	phosphoprotein phosphatase activity; intermediate filament binding; phosphatase activity; protein binding; phosphatidylinositol binding; protein tyrosine phosphatase activity; hydrolase activity; phosphatidylinositol-3-phosphatase activity; phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity;
Cellular component	cytoplasm; endosome; late endosome; cell projection; membrane; I band; filopodium; ruffle; plasma membrane; cytosol; sarcomere;
Biological process	negative regulation of autophagosome assembly; negative regulation of protein kinase B signaling; muscle cell cellular homeostasis; lipid metabolism; protein dephosphorylation; negative regulation of TOR signaling; mitochondrion distribution; negative regulation of proteasomal ubiquitin-dependent protein catabolic process; protein transport; phosphatidylinositol biosynthetic process; peptidyl-tyrosine dephosphorylation; mitochondrion morphogenesis; positive regulation of skeletal muscle tissue growth; dephosphorylation; endosome to lysosome transport; regulation of vacuole organization; intermediate filament organization; phosphatidylinositol dephosphorylation;
	Sources:Amigo / QuickGO
Orthologs
	4534
	17772
	ENSG00000171100
	ENSMUSG00000031337
	Q13496
	Q9Z2C5
	NM_000252; NM_001376906; NM_001376907; NM_001376908
NM_001164190; NM_001164191; NM_001164192; NM_001164193; NM_019926;
	NM_001358113
	NP_000243; NP_001363835; NP_001363836; NP_001363837
NP_001157662; NP_001157663; NP_001157664; NP_001157665; NP_064310;
	NP_001345042
	Wikidata
View/Edit Human	View/Edit Mouse

Myotubularin is a protein that in humans is encoded by the MTM1 gene.

This gene is a member of a gene family that encodes lipid phosphatases. Myotubularin is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy.