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MOUSE:MTM1

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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

Notes

References

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

  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
  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
  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
  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
  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
  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