Tbio MTM1 Myotubularin

Protein Summary

Description

Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2) (PubMed:11001925, PubMed:10900271, PubMed:12646134, PubMed:14722070). Has also been shown to dephosphorylate phosphotyrosine- and phosphoserine-containing peptides (PubMed:9537414). Negatively regulates EGFR degradation through regulation of EGFR trafficking from the late endosome to the lysosome (PubMed:14722070). Plays a role in vacuolar formation and morphology. Regulates desmin intermediate filament assembly and architecture (PubMed:21135508). Plays a role in mitochondrial morphology and positioning (PubMed:21135508). Required for skeletal muscle maintenance but not for myogenesis (PubMed:21135508). In skeletal muscles, stabilizes MTMR12 protein levels (PubMed:23818870). 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 Accession IDs

• Q13496
• A6NDB1
• B7Z491
• F2Z330
• Q8NEL1

Gene Name

• MTM1

Ensembl ID

• ENST00000370396
• ENSP00000359423
• ENSG00000171100

Symbol

• CG2
• CNM
• MTMX
• XLMTM

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
protein domain	0.85
kinase perturbation	0.81
disease perturbation	0.79
molecular function	0.79
cellular component	0.77

Protein Classes

PANTHER Classes

Protein / Hydrolase / Phosphatase / Myotubularin

DTO Classes

Protein / Enzyme / Hydrolase / Phosphatase / Myotubularin

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 335.51   (req: < 5)

Gene RIFs: 54   (req: <= 3)

Antibodies: 288   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 335.51   (req: >= 5)

Gene RIFs: 54   (req: > 3)

Antibodies: 288   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 21

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0