MOUSE:MTM1

Species (Taxon ID)	Mus musculus (Mouse). (10090)
Gene Name(s)	Mtm1
Protein Name(s)	Myotubularin Phosphatidylinositol-3,5-bisphosphate 3-phosphatase Phosphatidylinositol-3-phosphate phosphatase
External Links
UniProt	Q9Z2C5
EMBL	AF073996 AL731843 AL772294 BC090984
CCDS	CCDS30177.1
RefSeq	NP_001157662.1 NP_001157663.1 NP_001157664.1 NP_064310.2
UniGene	Mm.274981 Mm.423278
ProteinModelPortal	Q9Z2C5
SMR	Q9Z2C5
IntAct	Q9Z2C5
MINT	MINT-4102552
STRING	10090.ENSMUSP00000099041
PhosphoSite	Q9Z2C5
MaxQB	Q9Z2C5
PaxDb	Q9Z2C5
PRIDE	Q9Z2C5
Ensembl	ENSMUST00000033700 ENSMUST00000061970 ENSMUST00000114617 ENSMUST00000171933
GeneID	17772
KEGG	mmu:17772
UCSC	uc009tjq.2
CTD	4534
MGI	MGI:1099452
eggNOG	NOG322789
HOGENOM	HOG000210598
HOVERGEN	HBG000220
InParanoid	Q9Z2C5
KO	K01108
OMA	QGLPNHH
OrthoDB	EOG7XDBF9
Reactome	REACT_198972 REACT_198973 REACT_198975
NextBio	292491
PRO	PR:Q9Z2C5
Proteomes	UP000000589
Bgee	Q9Z2C5
CleanEx	MM_MTM1
ExpressionAtlas	Q9Z2C5
Genevestigator	Q9Z2C5
GO	GO:0005737 GO:0030175 GO:0031674 GO:0005770 GO:0005886 GO:0001726 GO:0019215 GO:0035091 GO:0052629 GO:0004438 GO:0004721 GO:0004725 GO:0008333 GO:0045109 GO:0048311 GO:0070584 GO:0046716 GO:0046856 GO:0006470 GO:0015031 GO:0044088
Gene3D	2.30.29.30
InterPro	IPR004182 IPR010569 IPR011993 IPR029021 IPR000387 IPR016130
Pfam	PF02893 PF06602
SMART	SM00568
SUPFAM	SSF52799
PROSITE	PS51339 PS00383 PS50056

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
	GO:0046716	muscle cell homeostasis	PMID:23390130^[1]	ECO:0000315			P		Figure 2A,2B. Shows mutagenesis of Mtm1 leads to lower muscle weight and myofiber size.	complete CACAO 7211
involved_in	GO:0046716	muscle cell cellular homeostasis	PMID:23390130^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0070584	mitochondrion morphogenesis	PMID:21135508^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0052629	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q13496	F		Seeded From UniProt	complete
involved_in	GO:0048311	mitochondrion distribution	PMID:21135508^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0046856	phosphatidylinositol dephosphorylation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q13496	P		Seeded From UniProt	complete
involved_in	GO:0045109	intermediate filament organization	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q13496	P		Seeded From UniProt	complete
involved_in	GO:0044088	regulation of vacuole organization	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q13496	P		Seeded From UniProt	complete
enables	GO:0035091	phosphatidylinositol binding	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q13496	F		Seeded From UniProt	complete
part_of	GO:0030175	filopodium	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q13496	C		Seeded From UniProt	complete
enables	GO:0019215	intermediate filament binding	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q13496	F		Seeded From UniProt	complete
involved_in	GO:0008333	endosome to lysosome transport	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q13496	P		Seeded From UniProt	complete
involved_in	GO:0006470	protein dephosphorylation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q13496	P		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q13496	C		Seeded From UniProt	complete
part_of	GO:0005770	late endosome	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q13496	C		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	PMID:12118066^[3]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0004721	phosphoprotein phosphatase activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q13496	F		Seeded From UniProt	complete
enables	GO:0004438	phosphatidylinositol-3-phosphatase activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q13496	F		Seeded From UniProt	complete
part_of	GO:0001726	ruffle	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q13496	C		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:1902902	negative regulation of autophagosome assembly	PMID:23695157^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:2450997	P	regulates_o_occurs_in:(EMAPA:32716) occurs_in:(EMAPA:32716)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0070584	mitochondrion morphogenesis	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q13496	P		Seeded From UniProt	complete
enables	GO:0052629	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q13496	F		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0051898	negative regulation of protein kinase B signaling	PMID:23695157^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:2450997	P	regulates_o_occurs_in:(EMAPA:32716) occurs_in:(EMAPA:32716)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0048633	positive regulation of skeletal muscle tissue growth	PMID:23695157^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:2450997	P	regulates_o_occurs_in:(EMAPA:32716) occurs_in:(EMAPA:32716)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0048311	mitochondrion distribution	PMID:18434328^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:2450992	P	occurs_in:(EMAPA:32716)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0048311	mitochondrion distribution	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q13496	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0046856	phosphatidylinositol dephosphorylation	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q13496	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0046716	muscle cell cellular homeostasis	PMID:12391329^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:2450992	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0045109	intermediate filament organization	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q13496	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0044088	regulation of vacuole organization	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q13496	P		Seeded From UniProt	complete
enables	GO:0035091	phosphatidylinositol binding	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q13496	F		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0032435	negative regulation of proteasomal ubiquitin-dependent protein catabolic process	PMID:23695157^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:2450997	P	regulates_o_occurs_in:(EMAPA:32716) occurs_in:(EMAPA:32716)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0032007	negative regulation of TOR signaling	PMID:23695157^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:2450997	P	occurs_in:(EMAPA:32716) regulates_o_occurs_in:(EMAPA:32716)	Seeded From UniProt	complete
part_of	GO:0031674	I band	PMID:18434328^[5]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(EMAPA:32716) part_of:(CL:0000188)	Seeded From UniProt	complete
part_of	GO:0030175	filopodium	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q13496	C		Seeded From UniProt	complete
enables	GO:0019215	intermediate filament binding	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q13496	F		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0008333	endosome to lysosome transport	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q13496	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0006470	protein dephosphorylation	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q13496	P		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q13496	C		Seeded From UniProt	complete
part_of	GO:0005829	cytosol	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q13496	C		Seeded From UniProt	complete
part_of	GO:0005770	late endosome	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q13496	C		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q13496	C		Seeded From UniProt	complete
enables	GO:0004721	phosphoprotein phosphatase activity	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q13496	F		Seeded From UniProt	complete
enables	GO:0004438	phosphatidylinositol-3-phosphatase activity	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q13496	F		Seeded From UniProt	complete
part_of	GO:0001726	ruffle	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q13496	C		Seeded From UniProt	complete
involved_in	GO:0035335	peptidyl-tyrosine dephosphorylation	GO_REF:0000108	ECO:0000366	evidence based on logical inference from automatic annotation used in automatic assertion	GO:0004725	P		Seeded From UniProt	complete
involved_in	GO:0070584	mitochondrion morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q13496 ensembl:ENSP00000359423	P		Seeded From UniProt	complete
enables	GO:0052629	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q13496 ensembl:ENSP00000359423	F		Seeded From UniProt	complete
involved_in	GO:0048311	mitochondrion distribution	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q13496 ensembl:ENSP00000359423	P		Seeded From UniProt	complete
involved_in	GO:0046856	phosphatidylinositol dephosphorylation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q13496 ensembl:ENSP00000359423	P		Seeded From UniProt	complete
involved_in	GO:0045109	intermediate filament organization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q13496 ensembl:ENSP00000359423	P		Seeded From UniProt	complete
involved_in	GO:0044088	regulation of vacuole organization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q13496 ensembl:ENSP00000359423	P		Seeded From UniProt	complete
enables	GO:0035091	phosphatidylinositol binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q13496 ensembl:ENSP00000359423	F		Seeded From UniProt	complete
part_of	GO:0030175	filopodium	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q13496 ensembl:ENSP00000359423	C		Seeded From UniProt	complete
enables	GO:0019215	intermediate filament binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q13496 ensembl:ENSP00000359423	F		Seeded From UniProt	complete
involved_in	GO:0008333	endosome to lysosome transport	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q13496 ensembl:ENSP00000359423	P		Seeded From UniProt	complete
involved_in	GO:0006470	protein dephosphorylation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q13496 ensembl:ENSP00000359423	P		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q13496 ensembl:ENSP00000359423	C		Seeded From UniProt	complete
part_of	GO:0005829	cytosol	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q13496 ensembl:ENSP00000359423	C		Seeded From UniProt	complete
part_of	GO:0005770	late endosome	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q13496 ensembl:ENSP00000359423	C		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q13496 ensembl:ENSP00000359423	C		Seeded From UniProt	complete
enables	GO:0004721	phosphoprotein phosphatase activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q13496 ensembl:ENSP00000359423	F		Seeded From UniProt	complete
enables	GO:0004438	phosphatidylinositol-3-phosphatase activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q13496 ensembl:ENSP00000359423	F		Seeded From UniProt	complete
part_of	GO:0001726	ruffle	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q13496 ensembl:ENSP00000359423	C		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:A0A024RC06 ensembl:ENSP00000359423	C		Seeded From UniProt	complete
part_of	GO:0005829	cytosol	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:A0A024RC06 ensembl:ENSP00000359423	C		Seeded From UniProt	complete
enables	GO:0004438	phosphatidylinositol-3-phosphatase activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR030561	F		Seeded From UniProt	complete
enables	GO:0004725	protein tyrosine phosphatase activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR016130	F		Seeded From UniProt	complete
involved_in	GO:0008333	endosome to lysosome transport	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR030561	P		Seeded From UniProt	complete
involved_in	GO:0016311	dephosphorylation	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR000387 InterPro:IPR016130	P		Seeded From UniProt	complete
enables	GO:0016791	phosphatase activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR000387	F		Seeded From UniProt	complete
involved_in	GO:0044088	regulation of vacuole organization	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR030561	P		Seeded From UniProt	complete
involved_in	GO:0045109	intermediate filament organization	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR030561	P		Seeded From UniProt	complete
involved_in	GO:0046716	muscle cell cellular homeostasis	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR030561	P		Seeded From UniProt	complete
involved_in	GO:0046856	phosphatidylinositol dephosphorylation	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR030561	P		Seeded From UniProt	complete
involved_in	GO:0048311	mitochondrion distribution	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR030561	P		Seeded From UniProt	complete
enables	GO:0052629	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR030561	F		Seeded From UniProt	complete
enables	GO:0004438	phosphatidylinositol-3-phosphatase activity	GO_REF:0000003	ECO:0000501	evidence used in automatic assertion	EC:3.1.3.64	F		Seeded From UniProt	complete
involved_in	GO:0006629	lipid metabolic process	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0443	P		Seeded From UniProt	complete
enables	GO:0004721	phosphoprotein phosphatase activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0904	F		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472	C		Seeded From UniProt	complete
involved_in	GO:0015031	protein transport	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0653	P		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-1003 UniProtKB-SubCell:SL-0039	C		Seeded From UniProt	complete
enables	GO:0016787	hydrolase activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0378	F		Seeded From UniProt	complete
part_of	GO:0042995	cell projection	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0966	C		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0963 UniProtKB-SubCell:SL-0086	C		Seeded From UniProt	complete
part_of	GO:0005768	endosome	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0967	C		Seeded From UniProt	complete
part_of	GO:0030175	filopodium	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0286	C		Seeded From UniProt	complete
part_of	GO:0001726	ruffle	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0300	C		Seeded From UniProt	complete
part_of	GO:0005770	late endosome	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0152	C		Seeded From UniProt	complete
part_of	GO:0030017	sarcomere	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0313	C		Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 Joubert, R et al. (2013) Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle. Hum. Mol. Genet. 22 1856-66 PubMed GONUTS page
↑ ^2.0 ^2.1 Hnia, K et al. (2011) Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle. J. Clin. Invest. 121 70-85 PubMed GONUTS page
↑ Laporte, J et al. (2002) The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles. J. Cell. Sci. 115 3105-17 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 ^4.3 ^4.4 Al-Qusairi, L et al. (2013) Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways. FASEB J. 27 3384-94 PubMed GONUTS page
↑ ^5.0 ^5.1 Buj-Bello, A et al. (2008) AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis. Hum. Mol. Genet. 17 2132-43 PubMed GONUTS page
↑ Buj-Bello, A et al. (2002) The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice. Proc. Natl. Acad. Sci. U.S.A. 99 15060-5 PubMed GONUTS page

[PMID:23390130-1] 1.0 ^1.1 Joubert, R et al. (2013) Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle. Hum. Mol. Genet. 22 1856-66 PubMed GONUTS page

[PMID:21135508-2] 2.0 ^2.1 Hnia, K et al. (2011) Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle. J. Clin. Invest. 121 70-85 PubMed GONUTS page

[PMID:12118066-3] Laporte, J et al. (2002) The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles. J. Cell. Sci. 115 3105-17 PubMed GONUTS page

[PMID:23695157-4] 4.0 ^4.1 ^4.2 ^4.3 ^4.4 Al-Qusairi, L et al. (2013) Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways. FASEB J. 27 3384-94 PubMed GONUTS page

[PMID:18434328-5] 5.0 ^5.1 Buj-Bello, A et al. (2008) AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis. Hum. Mol. Genet. 17 2132-43 PubMed GONUTS page

[PMID:12391329-6] Buj-Bello, A et al. (2002) The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice. Proc. Natl. Acad. Sci. U.S.A. 99 15060-5 PubMed GONUTS page

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MOUSE:MTM1

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