MTMR3: Difference between revisions
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{{ | '''Myotubularin-related protein 3''' is a [[protein]] that in humans is encoded by the ''MTMR3'' [[gene]].<ref name="pmid8640223">{{cite journal |vauthors=Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck SM, Poustka A, Dahl N | title = A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast | journal = Nat Genet | volume = 13 | issue = 2 | pages = 175–82 |date=Jul 1996 | pmid = 8640223 | pmc = | doi = 10.1038/ng0696-175 }}</ref><ref name="pmid9736772">{{cite journal |vauthors=Laporte J, Blondeau F, Buj-Bello A, Tentler D, Kretz C, Dahl N, Mandel JL | title = Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human | journal = Hum Mol Genet | volume = 7 | issue = 11 | pages = 1703–12 |date=Dec 1998 | pmid = 9736772 | pmc = | doi = 10.1093/hmg/7.11.1703}}</ref><ref name="entrez">{{cite web | title = Entrez Gene: MTMR3 myotubularin related protein 3| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8897| accessdate = }}</ref> | ||
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| summary_text = This gene encodes a member of the myotubularin dual specificity protein phosphatase gene family. The encoded protein is structurally similar to myotubularin but in addition contains a FYVE domain and an N-terminal PH-GRAM domain. The protein can self-associate and also form heteromers with another myotubularin related protein. The protein binds to phosphoinositide lipids through the PH-GRAM domain, and can hydrolyze phosphatidylinositol(3)-phosphate and phosphatidylinositol(3,5)-biphosphate in vitro. The encoded protein has been observed to have a perinuclear, possibly membrane-bound, distribution in cells, but it has also been found free in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene.<ref name="entrez" | | summary_text = This gene encodes a member of the myotubularin dual specificity protein phosphatase gene family. The encoded protein is structurally similar to myotubularin but in addition contains a FYVE domain and an N-terminal PH-GRAM domain. The protein can self-associate and also form heteromers with another myotubularin related protein. The protein binds to phosphoinositide lipids through the PH-GRAM domain, and can hydrolyze phosphatidylinositol(3)-phosphate and phosphatidylinositol(3,5)-biphosphate in vitro. The encoded protein has been observed to have a perinuclear, possibly membrane-bound, distribution in cells, but it has also been found free in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene.<ref name="entrez" /> | ||
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{{Protein tyrosine phosphatases}} | |||
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Myotubularin-related protein 3 is a protein that in humans is encoded by the MTMR3 gene.[1][2][3]
This gene encodes a member of the myotubularin dual specificity protein phosphatase gene family. The encoded protein is structurally similar to myotubularin but in addition contains a FYVE domain and an N-terminal PH-GRAM domain. The protein can self-associate and also form heteromers with another myotubularin related protein. The protein binds to phosphoinositide lipids through the PH-GRAM domain, and can hydrolyze phosphatidylinositol(3)-phosphate and phosphatidylinositol(3,5)-biphosphate in vitro. The encoded protein has been observed to have a perinuclear, possibly membrane-bound, distribution in cells, but it has also been found free in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene.[3]
References
- ↑ Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck SM, Poustka A, Dahl N (Jul 1996). "A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast". Nat Genet. 13 (2): 175–82. doi:10.1038/ng0696-175. PMID 8640223.
- ↑ Laporte J, Blondeau F, Buj-Bello A, Tentler D, Kretz C, Dahl N, Mandel JL (Dec 1998). "Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human". Hum Mol Genet. 7 (11): 1703–12. doi:10.1093/hmg/7.11.1703. PMID 9736772.
- ↑ 3.0 3.1 "Entrez Gene: MTMR3 myotubularin related protein 3".
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