Entity Details

Primary name MTM1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ13496
EntryNameMTM1_HUMAN
FullNameMyotubularin
TaxID9606
Evidenceevidence at protein level
Length603
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesMTM1

GO terms

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GOName
GO:0001726 ruffle
GO:0004438 phosphatidylinositol-3-phosphatase activity
GO:0004721 phosphoprotein phosphatase activity
GO:0004725 protein tyrosine phosphatase activity
GO:0005737 cytoplasm
GO:0005770 late endosome
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0006470 protein dephosphorylation
GO:0006661 phosphatidylinositol biosynthetic process
GO:0008333 endosome to lysosome transport
GO:0015031 protein transport
GO:0019215 intermediate filament binding
GO:0030175 filopodium
GO:0031674 I band
GO:0032007 negative regulation of TOR signaling
GO:0032435 negative regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0035091 phosphatidylinositol binding
GO:0044088 regulation of vacuole organization
GO:0045109 intermediate filament organization
GO:0046716 muscle cell cellular homeostasis
GO:0046856 phosphatidylinositol dephosphorylation
GO:0048311 mitochondrion distribution
GO:0048633 positive regulation of skeletal muscle tissue growth
GO:0051898 negative regulation of protein kinase B signaling
GO:0052629 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity
GO:0070584 mitochondrion morphogenesis
GO:1902902 negative regulation of autophagosome assembly

Subcellular Location

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Subcellular Location
Cell membrane
Cell projection
Cytoplasm
Late endosome

Domains

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DomainNameCategoryType
IPR000387 Tyrosine specific protein phosphatases domainDomainDomain
IPR003595 Protein-tyrosine phosphatase, catalyticDomainDomain
IPR004182 GRAM domainDomainDomain
IPR010569 Myotubularin-like phosphatase domainDomainDomain
IPR011993 PH-like domain superfamilyFamilyHomologous superfamily
IPR016130 Protein-tyrosine phosphatase, active siteSiteActive site
IPR029021 Protein-tyrosine phosphatase-likeFamilyHomologous superfamily
IPR030561 MyotubularinFamilyFamily
IPR030564 Myotubularin familyFamilyFamily

Diseases

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Disease IDSourceNameDescription
310400 OMIMMyopathy, centronuclear, X-linked (CNMX)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. The disease is caused by variants affecting the gene represented in this entry.