MTMR3

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Myotubularin related protein 3
Identifiers
Symbols MTMR3 ; FYVE-DSP1; ZFYVE10
External IDs OMIM603558 MGI1921552 HomoloGene23662 GeneCards: MTMR3 Gene
EC number 3.1.3.48
RNA expression pattern
PBB GE MTMR3 202197 at tn.png
PBB GE MTMR3 202198 s at tn.png
PBB GE MTMR3 211507 s at tn.png
More reference expression data
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 [1] [2]

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[edit]

  1. ^ 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. 
  2. ^ 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. ^ a b "Entrez Gene: MTMR3 myotubularin related protein 3".