Sequence Detail

ID/Version

Q9Z2C5 Q5BKQ5 (UniProt | EBI)

Last sequence update: 2011-06-28
Last annotation update: 2024-03-27

Sequence description from provider

RecName: Full=Myotubularin;AltName: Full=Phosphatidylinositol-3,5-bisphosphate 3-phosphatase; EC=3.1.3.95 {ECO:0000250|UniProtKB:Q13496};AltName: Full=Phosphatidylinositol-3-phosphate phosphatase; EC=3.1.3.64 {ECO:0000250|UniProtKB:Q13496}

Provider

SWISS-PROT

Sequence

Polypeptide 603 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Mtm1	X-linked myotubular myopathy gene 1	61	99	3	30

Sequence references in MGI

J:62647 Laporte J, et al., Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. Hum Mol Genet. 1998 Oct;7(11):1703-12
J:81791 Buj-Bello A, et al., The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice. Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):15060-5
J:171846 Hnia K, et al., Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle. J Clin Invest. 2011 Jan 4;121(1):70-85
J:175210 Laporte J, et al., The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles. J Cell Sci. 2002 Aug 1;115(Pt 15):3105-17
J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89