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MGI:Mtm1

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Contents

Species (Taxon ID) Mus musculus (house mouse) (taxon:10090)
Gene Name(s) Mtm1
Protein Name(s) X-linked myotubular myopathy gene 1,
External Links
MGI MGI:1099452

Annotations

Qualifier GO ID GO term name Reference Evidence Code with/from Aspect Notes Status
GO:0001726

ruffle

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q13496

C

From MGI

GO:0004438

phosphatidylinositol-3-phosphatase activity

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q13496

F

From MGI

GO:0004721

phosphoprotein phosphatase activity

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q13496

F

From MGI

GO:0004725

protein tyrosine phosphatase activity

MGI:MGI:2152098

IEA: Inferred from Electronic Annotation

InterPro:IPR016130

F

From MGI

GO:0005737

cytoplasm

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q13496

C

From MGI

GO:0005737

cytoplasm

MGI:MGI:5284818
PMID:12118066[1]

IDA: Inferred from Direct Assay

C

From MGI

GO:0005768

endosome

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0967

C

From MGI

GO:0005770

late endosome

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q13496

C

From MGI

GO:0005886

plasma membrane

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q13496

C

From MGI

GO:0006470

protein dephosphorylation

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q13496

P

From MGI

GO:0006810

transport

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0813

P

From MGI

GO:0008333

endosome to lysosome transport

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q13496

P

From MGI

GO:0015031

protein transport

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0653

P

From MGI

GO:0016020

membrane

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0472

C

From MGI

GO:0016311

dephosphorylation

MGI:MGI:2152098

IEA: Inferred from Electronic Annotation

InterPro:IPR010569
InterPro:IPR017906
InterPro:IPR000387
InterPro:IPR016130

P

From MGI

GO:0016787

hydrolase activity

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0378

F

From MGI

GO:0016791

phosphatase activity

MGI:MGI:2152098

IEA: Inferred from Electronic Annotation

InterPro:IPR010569
InterPro:IPR017906
InterPro:IPR000387
InterPro:IPR016130

F

From MGI

GO:0019215

intermediate filament binding

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q13496

F

From MGI

GO:0030175

filopodium

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q13496

C

From MGI

GO:0035091

phosphatidylinositol binding

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q13496

F

From MGI

GO:0042995

cell projection

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0966

C

From MGI

GO:0044088

regulation of vacuole organization

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q13496

P

From MGI

GO:0045109

intermediate filament organization

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q13496

P

From MGI

GO:0046716

muscle cell homeostasis

MGI:MGI:2450011
PMID:12391329[2]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2450992

P

From MGI

GO:0046856

phosphatidylinositol dephosphorylation

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q13496

P

From MGI

GO:0048311

mitochondrion distribution

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q13496

P

From MGI

GO:0048311

mitochondrion distribution

MGI:MGI:5000185
PMID:21135508[3]

IMP: Inferred from Mutant Phenotype

P

From MGI

GO:0052629

phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q13496

F

From MGI

GO:0070584

mitochondrion morphogenesis

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q13496

P

From MGI

GO:0070584

mitochondrion morphogenesis

MGI:MGI:5000185
PMID:21135508[3]

IMP: Inferred from Mutant Phenotype

P

From MGI


Notes

References

See Help:References for how to manage references in GONUTS.
  1. 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
  2. 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
  3. 3.0 3.1 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
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