Myotubularin-related protein 3 is a protein that in humans is encoded by the MTMR3 gene.[5][6][7]
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.[7]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000100330 - Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034354 - Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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. S2CID 30028223.
- ^ 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.
- ^ a b "Entrez Gene: MTMR3 myotubularin related protein 3".
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This page was last edited on 4 March 2023, at 11:40