Mtm1 - X-linked myotubular myopathy gene 1 Gene

Mus musculus

Also known as Mtm; mKIAA4176

Gene ID: 17772 | Gene type: protein coding

About Mtm1

Summary

Predicted to enable intermediate filament binding activity; Phosphatase activity; and phosphatidylinositol binding activity. Involved in mitochondrion distribution; mitochondrion morphogenesis; and muscle cell cellular homeostasis. Acts upstream of or within negative regulation of cellular catabolic process; negative regulation of intracellular signal transduction; and positive regulation of skeletal muscle tissue growth. Located in I band. Is expressed in trunk unsegmented mesenchyme. Used to study centronuclear myopathy. Human ortholog(s) of this gene implicated in centronuclear myopathy X-linked and congenital structural myopathy. Orthologous to human MTM1 (myotubularin 1). [provided by Alliance of Genome Resources, Apr 2022]

Mtm1 Products(6)

mRNA	Protein	Name
NM_001164190.1	NP_001157662.1	myotubularin isoform 1
NM_001164191.1	NP_001157663.1	myotubularin isoform 1
NM_001164192.1	NP_001157664.1	myotubularin isoform 2
NM_001164193.1	NP_001157665.1	myotubularin isoform 3
NM_001358113.1	NP_001345042.1	myotubularin isoform 4
NM_019926.4	NP_064310.2	myotubularin isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21135508	MGI

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of TOR signaling	IMP IMP: Inferred from mutant phenotype	23695157	MGI
acts upstream of autophagosome assembly	IMP IMP: Inferred from mutant phenotype	23695157	MGI
acts upstream of or within mitochondrion distribution	IMP IMP: Inferred from mutant phenotype	18434328	MGI
involved in mitochondrion distribution	IMP IMP: Inferred from mutant phenotype	21135508	MGI
involved in mitochondrion organization	IMP IMP: Inferred from mutant phenotype	21135508	MGI
acts upstream of or within muscle cell cellular homeostasis	IMP IMP: Inferred from mutant phenotype	12391329	MGI
involved in muscle cell cellular homeostasis	IMP IMP: Inferred from mutant phenotype	23390130	MGI
acts upstream of or within negative regulation of TOR signaling	IMP IMP: Inferred from mutant phenotype	23695157	MGI
acts upstream of or within negative regulation of autophagosome assembly	IMP IMP: Inferred from mutant phenotype	23695157	MGI
acts upstream of or within negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP IMP: Inferred from mutant phenotype	23695157	MGI
acts upstream of or within negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	23695157	MGI
acts upstream of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP IMP: Inferred from mutant phenotype	23695157	MGI
acts upstream of or within positive regulation of skeletal muscle tissue growth	IMP IMP: Inferred from mutant phenotype	23695157	MGI
acts upstream of proteasome-mediated ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	23695157	MGI
acts upstream of skeletal muscle tissue growth	IMP IMP: Inferred from mutant phenotype	23695157	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
located in I band	IDA IDA: Inferred from direct assay	18434328	MGI
located in cytoplasm	IDA IDA: Inferred from direct assay	12118066	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

myotubularin

phosphatidylinositol-3,5-bisphosphate 3-phosphatase

phosphatidylinositol-3-phosphate phosphatase

Mtm1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	Mtm1	Q9Z2C5	Des	Mus musculus	P31001	Anti Bait CoIP	21135508
Intra	Mtm1	Q9Z2C5	Bin1	Mus musculus	O08539	Anti Bait CoIP	23917616

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08784	MTM1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Mtm1	NCBI	NCBI:4534

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