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MOUSE:MTM1
Contents
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 |
ECO:0000315 |
P |
Figure 2A,2B. Shows mutagenesis of Mtm1 leads to lower muscle weight and myofiber size. |
complete | |||||
involved_in |
GO:0046716 |
muscle cell cellular homeostasis |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0070584 |
mitochondrion morphogenesis |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0052629 |
phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0048311 |
mitochondrion distribution |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0046856 |
phosphatidylinositol dephosphorylation |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0045109 |
intermediate filament organization |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0044088 |
regulation of vacuole organization |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0035091 |
phosphatidylinositol binding |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0030175 |
filopodium |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0019215 |
intermediate filament binding |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0008333 |
endosome to lysosome transport |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0006470 |
protein dephosphorylation |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0005886 |
plasma membrane |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005770 |
late endosome |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005737 |
cytoplasm |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0004721 |
phosphoprotein phosphatase activity |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0004438 |
phosphatidylinositol-3-phosphatase activity |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0001726 |
ruffle |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
acts_upstream_of_or_within |
GO:1902902 |
negative regulation of autophagosome assembly |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
MGI:MGI:2450997 |
P |
|
Seeded From UniProt |
complete | |
acts_upstream_of_or_within |
GO:0070584 |
mitochondrion morphogenesis |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0052629 |
phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
acts_upstream_of_or_within |
GO:0051898 |
negative regulation of protein kinase B signaling |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
MGI:MGI:2450997 |
P |
|
Seeded From UniProt |
complete | |
acts_upstream_of_or_within |
GO:0048633 |
positive regulation of skeletal muscle tissue growth |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
MGI:MGI:2450997 |
P |
|
Seeded From UniProt |
complete | |
acts_upstream_of_or_within |
GO:0048311 |
mitochondrion distribution |
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 |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
acts_upstream_of_or_within |
GO:0046856 |
phosphatidylinositol dephosphorylation |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
acts_upstream_of_or_within |
GO:0046716 |
muscle cell cellular homeostasis |
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 |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
acts_upstream_of_or_within |
GO:0044088 |
regulation of vacuole organization |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0035091 |
phosphatidylinositol binding |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
acts_upstream_of_or_within |
GO:0032435 |
negative regulation of proteasomal ubiquitin-dependent protein catabolic process |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
MGI:MGI:2450997 |
P |
|
Seeded From UniProt |
complete | |
acts_upstream_of_or_within |
GO:0032007 |
negative regulation of TOR signaling |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
MGI:MGI:2450997 |
P |
|
Seeded From UniProt |
complete | |
part_of |
GO:0031674 |
I band |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
|
Seeded From UniProt |
complete | ||
part_of |
GO:0030175 |
filopodium |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0019215 |
intermediate filament binding |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
acts_upstream_of_or_within |
GO:0008333 |
endosome to lysosome transport |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
acts_upstream_of_or_within |
GO:0006470 |
protein dephosphorylation |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0005886 |
plasma membrane |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005829 |
cytosol |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005770 |
late endosome |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005737 |
cytoplasm |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0004721 |
phosphoprotein phosphatase activity |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0004438 |
phosphatidylinositol-3-phosphatase activity |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0001726 |
ruffle |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0035335 |
peptidyl-tyrosine dephosphorylation |
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 |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q13496 |
P |
Seeded From UniProt |
complete | ||
enables |
GO:0052629 |
phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q13496 |
F |
Seeded From UniProt |
complete | ||
involved_in |
GO:0048311 |
mitochondrion distribution |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q13496 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0046856 |
phosphatidylinositol dephosphorylation |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q13496 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0045109 |
intermediate filament organization |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q13496 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0044088 |
regulation of vacuole organization |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q13496 |
P |
Seeded From UniProt |
complete | ||
enables |
GO:0035091 |
phosphatidylinositol binding |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q13496 |
F |
Seeded From UniProt |
complete | ||
part_of |
GO:0030175 |
filopodium |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q13496 |
C |
Seeded From UniProt |
complete | ||
enables |
GO:0019215 |
intermediate filament binding |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q13496 |
F |
Seeded From UniProt |
complete | ||
involved_in |
GO:0008333 |
endosome to lysosome transport |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q13496 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0006470 |
protein dephosphorylation |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q13496 |
P |
Seeded From UniProt |
complete | ||
part_of |
GO:0005886 |
plasma membrane |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q13496 |
C |
Seeded From UniProt |
complete | ||
part_of |
GO:0005829 |
cytosol |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q13496 |
C |
Seeded From UniProt |
complete | ||
part_of |
GO:0005770 |
late endosome |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q13496 |
C |
Seeded From UniProt |
complete | ||
part_of |
GO:0005737 |
cytoplasm |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q13496 |
C |
Seeded From UniProt |
complete | ||
enables |
GO:0004721 |
phosphoprotein phosphatase activity |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q13496 |
F |
Seeded From UniProt |
complete | ||
enables |
GO:0004438 |
phosphatidylinositol-3-phosphatase activity |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q13496 |
F |
Seeded From UniProt |
complete | ||
part_of |
GO:0001726 |
ruffle |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q13496 |
C |
Seeded From UniProt |
complete | ||
part_of |
GO:0005886 |
plasma membrane |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:A0A024RC06 |
C |
Seeded From UniProt |
complete | ||
part_of |
GO:0005829 |
cytosol |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:A0A024RC06 |
C |
Seeded From UniProt |
complete | ||
enables |
GO:0004438 |
phosphatidylinositol-3-phosphatase activity |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0004725 |
protein tyrosine phosphatase activity |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0008333 |
endosome to lysosome transport |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0016311 |
dephosphorylation |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0016791 |
phosphatase activity |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0044088 |
regulation of vacuole organization |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0045109 |
intermediate filament organization |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0046716 |
muscle cell cellular homeostasis |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0046856 |
phosphatidylinositol dephosphorylation |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0048311 |
mitochondrion distribution |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0052629 |
phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0004438 |
phosphatidylinositol-3-phosphatase activity |
ECO:0000501 |
evidence used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0006629 |
lipid metabolic process |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0004721 |
phosphoprotein phosphatase activity |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0016020 |
membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0015031 |
protein transport |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0005886 |
plasma membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0016787 |
hydrolase activity |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0042995 |
cell projection |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005737 |
cytoplasm |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005768 |
endosome |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0030175 |
filopodium |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0001726 |
ruffle |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005770 |
late endosome |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0030017 |
sarcomere |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
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
e
g
i
m
n
p
- GO:0035335 ! peptidyl-tyrosine dephosphorylation
- GO:0016791 ! phosphatase activity
- GO:0004438 ! phosphatidylinositol-3-phosphatase activity
- GO:0052629 ! phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity
- GO:0046856 ! phosphatidylinositol dephosphorylation
- GO:0035091 ! phosphatidylinositol binding
- GO:0004721 ! phosphoprotein phosphatase activity
- GO:0005886 ! plasma membrane
- GO:0048633 ! positive regulation of skeletal muscle tissue growth
- GO:0006470 ! protein dephosphorylation
- GO:0015031 ! protein transport
- GO:0004725 ! protein tyrosine phosphatase activity