MTMR3
| Myotubularin related protein 3 | |||||||||||||
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| Symbols | MTMR3 ; FYVE-DSP1; ZFYVE10 | ||||||||||||
| External IDs | OMIM: 603558 MGI: 1921552 HomoloGene: 23662 GeneCards: MTMR3 Gene | ||||||||||||
| EC number | 3.1.3.48 | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 8897 | 74302 | |||||||||||
| Ensembl | ENSG00000100330 | ENSMUSG00000034354 | |||||||||||
| UniProt | Q13615 | Q8K296 | |||||||||||
| RefSeq (mRNA) | NM_001013676 | NM_028860 | |||||||||||
| RefSeq (protein) | NP_066576 | NP_083136 | |||||||||||
| Location (UCSC) | Chr 22: 30.28 – 30.43 Mb | Chr 11: 4.48 – 4.59 Mb | |||||||||||
| PubMed search | |||||||||||||
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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