InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MTM1

Summary

InnateDB Protein

IDBP-88745.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MTM1

Protein Name

myotubularin 1

Synonyms

CNM; MTMX; XLMTM;

Species

Homo sapiens

Ensembl Protein

ENSP00000359423

InnateDB Gene

IDBG-88743 (MTM1)

Protein Structure

UniProt Annotation

Function

Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2). Has also been shown to dephosphorylate phosphotyrosine- and phosphoserine- containing peptides. Negatively regulates EGFR degradation through regulation of EGFR trafficking from the late endosome to the lysosome. Plays a role in vacuolar formation and morphology. Regulates desmin intermediate filament assembly and architecture. Plays a role in mitochondrial morphology and positioning. Required for skeletal muscle maintenance but not for myogenesis. {ECO:0000269PubMed:10900271, ECO:0000269PubMed:11001925, ECO:0000269PubMed:12646134, ECO:0000269PubMed:14722070, ECO:0000269PubMed:21135508, ECO:0000269PubMed:9537414}.

Subcellular Localization

Cytoplasm. Cell membrane; Peripheral membrane protein. Cell projection, filopodium. Cell projection, ruffle. Late endosome. Note=Localizes as a dense cytoplasmic network. Also localizes to the plasma membrane, including plasma membrane extensions such as filopodia and ruffles. Predominantly located in the cytoplasm following interaction with MTMR12. Recruited to the late endosome following EGF stimulation.

Disease Associations

Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]: A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. {ECO:0000269PubMed:10063835, ECO:0000269PubMed:10466421, ECO:0000269PubMed:10502779, ECO:0000269PubMed:11793470, ECO:0000269PubMed:12031625, ECO:0000269PubMed:12522554, ECO:0000269PubMed:12859411, ECO:0000269PubMed:17005396, ECO:0000269PubMed:19129059, ECO:0000269PubMed:9285787, ECO:0000269PubMed:9305655, ECO:0000269PubMed:9829274}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	13 [view]
Protein-Protein	13 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004438	phosphatidylinositol-3-phosphatase activity
GO:0004721	phosphoprotein phosphatase activity
GO:0004725	protein tyrosine phosphatase activity
GO:0005515	protein binding
GO:0016791	phosphatase activity
GO:0019215	intermediate filament binding
GO:0035091	phosphatidylinositol binding
GO:0052629	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity

Biological Process

GO:0006470	protein dephosphorylation
GO:0006644	phospholipid metabolic process
GO:0006661	phosphatidylinositol biosynthetic process
GO:0008333	endosome to lysosome transport
GO:0015031	protein transport
GO:0016311	dephosphorylation
GO:0035335	peptidyl-tyrosine dephosphorylation
GO:0044088	regulation of vacuole organization
GO:0044281	small molecule metabolic process
GO:0045109	intermediate filament organization
GO:0046856	phosphatidylinositol dephosphorylation
GO:0048311	mitochondrion distribution
GO:0070584	mitochondrion morphogenesis

Cellular Component

GO:0001726	ruffle
GO:0005737	cytoplasm
GO:0005770	late endosome
GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0030175	filopodium
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR000387 Protein-tyrosine/Dual specificity phosphatase
IPR003595 Protein-tyrosine phosphatase, catalytic
IPR004182 GRAM domain
IPR010569 Myotubularin-like phosphatase domain
IPR029021 Protein-tyrosine phosphatase-like

PFAM

PF02893
PF06602

PRINTS

PIRSF

SMART

SM00404
SM00568

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q13496