Mtm1 - X-linked myotubular myopathy gene 1 Gene

Also Known as Mtm; mKIAA4176

Species: Mus musculus

Gene Type: protein coding
Gene ID: 17772

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 References Source
enables protein binding IPI
IPI: Inferred from physical interaction
21135508 MGI
Biological Process GO Annotation Evidence References 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 References 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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

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