Gene table of MTM1 : myotubularin 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with MTM1	OMIM link	Number of associated genes	genes
310400	MYOPATHY, CENTRONUCLEAR, X-LINKED	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	DNM2, MTM1

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Inositol phosphate metabolism	hsa00562	6.72
Metabolic pathways	hsa01100	2.49
Phosphatidylinositol signaling system	hsa04070	6.38

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Synthesis of PIPs at the plasma membrane	R-HSA-1660499	7.94
Synthesis of PIPs at the early endosome membrane	R-HSA-1660516	9.28
Synthesis of PIPs at the late endosome membrane	R-HSA-1660517	9.66
Phospholipid metabolism	R-HSA-1483257	5.83
PI Metabolism	R-HSA-1483255	7.31
Metabolism	R-HSA-1430728	2.34
Metabolism of lipids and lipoproteins	R-HSA-556833	3.79

Associated GO terms for Molecular function

GO term	GO ID	GO IC
hydrolase activity, acting on ester bonds	GO:0016788	3.1
hydrolase activity	GO:0016787	1.9
phosphatidylinositol monophosphate phosphatase activity	GO:0052744	7.1
intermediate filament binding	GO:0019215	7.1
phosphatidylinositol phosphate phosphatase activity	GO:0052866	6.34
phosphatidylinositol binding	GO:0035091	4.47
protein tyrosine phosphatase activity	GO:0004725	5.09
phospholipid binding	GO:0005543	3.91
phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	GO:0052629	7.34
lipid binding	GO:0008289	3.26
phosphoprotein phosphatase activity	GO:0004721	4.55
phosphatidylinositol-3-phosphatase activity	GO:0004438	7.1
phosphatidylinositol bisphosphate phosphatase activity	GO:0034593	6.44
catalytic activity	GO:0003824	1.05
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
protein complex binding	GO:0032403	3.09
phosphatase activity	GO:0016791	4.11
phosphoric ester hydrolase activity	GO:0042578	3.82