HUMAN:MTM1

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	MTM1 (synonyms: CG2)
Protein Name(s)	Myotubularin Phosphatidylinositol-3,5-bisphosphate 3-phosphatase Phosphatidylinositol-3-phosphate phosphatase
External Links
UniProt	Q13496
EMBL	U46024 AF020676 AF020664 AF020665 AF020666 AF020667 AF020668 AF020669 AF020670 AF020671 AF020672 AF020673 AF020674 AF020675 AK297021 AC109994 AF002223 CH471169 BC030779
CCDS	CCDS14694.1
RefSeq	NP_000243.1 XP_005274744.1
UniGene	Hs.655056
ProteinModelPortal	Q13496
SMR	Q13496
BioGrid	110630
IntAct	Q13496
STRING	9606.ENSP00000359423
DEPOD	Q13496
PhosphoSite	Q13496
DMDM	2851537
MaxQB	Q13496
PaxDb	Q13496
PRIDE	Q13496
DNASU	4534
Ensembl	ENST00000370396
GeneID	4534
KEGG	hsa:4534
UCSC	uc004fef.4
CTD	4534
GeneCards	GC0XP149738
GeneReviews	MTM1
HGNC	HGNC:7448
HPA	HPA010008 HPA010665
MIM	300415 310400
neXtProt	NX_Q13496
Orphanet	596
PharmGKB	PA31251
eggNOG	NOG322789
GeneTree	ENSGT00760000118832
HOGENOM	HOG000210598
HOVERGEN	HBG000220
InParanoid	Q13496
KO	K01108
OMA	QGLPNHH
PhylomeDB	Q13496
TreeFam	TF315197
BRENDA	3.1.3.64
Reactome	REACT_120756 REACT_120918 REACT_121025
ChiTaRS	MTM1
GeneWiki	Myotubularin_1
GenomeRNAi	4534
NextBio	17492
PRO	PR:Q13496
Proteomes	UP000005640
Bgee	Q13496
CleanEx	HS_MTM1
ExpressionAtlas	Q13496
Genevestigator	Q13496
GO	GO:0005737 GO:0005829 GO:0070062 GO:0030175 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:0006661 GO:0046856 GO:0006644 GO:0006470 GO:0015031 GO:0044088 GO:0044281
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	Notes	Status
involved_in	GO:0070584	mitochondrion morphogenesis	PMID:21135508^[1]	ECO:0000314	direct assay evidence used in manual assertion		P	Seeded From UniProt	complete
enables	GO:0052629	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	PMID:12646134^[2]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
involved_in	GO:0048311	mitochondrion distribution	PMID:21135508^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0046856	phosphatidylinositol dephosphorylation	PMID:12646134^[2]	ECO:0000314	direct assay evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0046856	phosphatidylinositol dephosphorylation	PMID:10900271^[3]	ECO:0000314	direct assay evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0045109	intermediate filament organization	PMID:21135508^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0044088	regulation of vacuole organization	PMID:14722070^[4]	ECO:0000314	direct assay evidence used in manual assertion		P	Seeded From UniProt	complete
enables	GO:0035091	phosphatidylinositol binding	PMID:14722070^[4]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
part_of	GO:0030175	filopodium	PMID:12118066^[5]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
enables	GO:0019215	intermediate filament binding	PMID:21135508^[1]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
involved_in	GO:0008333	endosome to lysosome transport	PMID:14722070^[4]	ECO:0000314	direct assay evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0006470	protein dephosphorylation	PMID:9537414^[6]	ECO:0000314	direct assay evidence used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:12217958^[7]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:12847286^[8]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:12118066^[5]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005770	late endosome	PMID:14722070^[4]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	PMID:12217958^[7]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	PMID:12118066^[5]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	PMID:10900271^[3]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
enables	GO:0004721	phosphoprotein phosphatase activity	PMID:9537414^[6]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
enables	GO:0004438	phosphatidylinositol-3-phosphatase activity	PMID:10900271^[3]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
part_of	GO:0001726	ruffle	PMID:12118066^[5]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000052	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005829	cytosol	GO_REF:0000052	ECO:0000314	direct assay evidence used in manual assertion		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:1902902	negative regulation of autophagosome assembly	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9Z2C5 ensembl:ENSMUSP00000125798	P	Seeded From UniProt	complete
involved_in	GO:0070584	mitochondrion morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9Z2C5 ensembl:ENSMUSP00000125798	P	Seeded From UniProt	complete
involved_in	GO:0051898	negative regulation of protein kinase B signaling	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9Z2C5 ensembl:ENSMUSP00000125798	P	Seeded From UniProt	complete
involved_in	GO:0048633	positive regulation of skeletal muscle tissue growth	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9Z2C5 ensembl:ENSMUSP00000125798	P	Seeded From UniProt	complete
involved_in	GO:0048311	mitochondrion distribution	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9Z2C5 ensembl:ENSMUSP00000125798	P	Seeded From UniProt	complete
involved_in	GO:0046716	muscle cell cellular homeostasis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9Z2C5 ensembl:ENSMUSP00000125798	P	Seeded From UniProt	complete
involved_in	GO:0032435	negative regulation of proteasomal ubiquitin-dependent protein catabolic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9Z2C5 ensembl:ENSMUSP00000125798	P	Seeded From UniProt	complete
involved_in	GO:0032007	negative regulation of TOR signaling	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9Z2C5 ensembl:ENSMUSP00000125798	P	Seeded From UniProt	complete
part_of	GO:0031674	I band	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9Z2C5 ensembl:ENSMUSP00000125798	C	Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9Z2C5 ensembl:ENSMUSP00000125798	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:0006661	phosphatidylinositol biosynthetic process	Reactome:R-HSA-1660517 Reactome:R-HSA-1660516 Reactome:R-HSA-1660499	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0005829	cytosol	Reactome:R-HSA-6809720 Reactome:R-HSA-6809680 Reactome:R-HSA-1676203 Reactome:R-HSA-1676141 Reactome:R-HSA-1676105 Reactome:R-HSA-1676065 Reactome:R-HSA-1675994 Reactome:R-HSA-1675795	ECO:0000304	author statement supported by traceable reference used in manual assertion		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
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:0016020	membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472	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
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
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
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: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: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
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: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:0030017	sarcomere	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0313	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
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Notes

References

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

↑ ^1.0 ^1.1 ^1.2 ^1.3 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
↑ ^2.0 ^2.1 Schaletzky, J et al. (2003) Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatidylinositol 3-phosphatases. Curr. Biol. 13 504-9 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 Taylor, GS et al. (2000) Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate. Proc. Natl. Acad. Sci. U.S.A. 97 8910-5 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 ^4.3 Tsujita, K et al. (2004) Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3,5-bisphosphate interaction. J. Biol. Chem. 279 13817-24 PubMed GONUTS page
↑ ^5.0 ^5.1 ^5.2 ^5.3 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
↑ ^6.0 ^6.1 Cui, X et al. (1998) Association of SET domain and myotubularin-related proteins modulates growth control. Nat. Genet. 18 331-7 PubMed GONUTS page
↑ ^7.0 ^7.1 Buj-Bello, A et al. (2002) Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells. Hum. Mol. Genet. 11 2297-307 PubMed GONUTS page
↑ Nandurkar, HH et al. (2003) Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP. Proc. Natl. Acad. Sci. U.S.A. 100 8660-5 PubMed GONUTS page

[PMID:21135508-1] 1.0 ^1.1 ^1.2 ^1.3 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:12646134-2] 2.0 ^2.1 Schaletzky, J et al. (2003) Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatidylinositol 3-phosphatases. Curr. Biol. 13 504-9 PubMed GONUTS page

[PMID:10900271-3] 3.0 ^3.1 ^3.2 Taylor, GS et al. (2000) Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate. Proc. Natl. Acad. Sci. U.S.A. 97 8910-5 PubMed GONUTS page

[PMID:14722070-4] 4.0 ^4.1 ^4.2 ^4.3 Tsujita, K et al. (2004) Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3,5-bisphosphate interaction. J. Biol. Chem. 279 13817-24 PubMed GONUTS page

[PMID:12118066-5] 5.0 ^5.1 ^5.2 ^5.3 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:9537414-6] 6.0 ^6.1 Cui, X et al. (1998) Association of SET domain and myotubularin-related proteins modulates growth control. Nat. Genet. 18 331-7 PubMed GONUTS page

[PMID:12217958-7] 7.0 ^7.1 Buj-Bello, A et al. (2002) Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells. Hum. Mol. Genet. 11 2297-307 PubMed GONUTS page

[PMID:12847286-8] Nandurkar, HH et al. (2003) Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP. Proc. Natl. Acad. Sci. U.S.A. 100 8660-5 PubMed GONUTS page

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HUMAN:MTM1

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