Myotubularin

Last updated
Myotubularin-related
PDB 1m7r EBI.jpg
Structure of a phosphoinositide phosphatase. [1]
Identifiers
SymbolMyotub-related
Pfam PF06602
InterPro IPR010569
SCOP2 1m7r / SCOPe / SUPFAM
OPM superfamily 130
OPM protein 1zvr
Available protein structures:
Pfam   structures / ECOD  
PDB RCSB PDB; PDBe; PDBj
PDBsum structure summary

Myotubularin domain represents a region within eukaryotic myotubularin-related proteins that is sometimes found with the GRAM domain. Myotubularin is a dual-specific lipid phosphatase that dephosphorylates phosphatidylinositol 3-phosphate and phosphatidylinositol (3,5)-bi-phosphate. [2] Mutations in gene encoding myotubularin-related proteins have been associated with disease. [3]

Contents

Human proteins containing this domain

MTM1; MTMR1; MTMR2; MTMR3; MTMR4; MTMR6; MTMR7; MTMR8; MTMR9; MTMR10; MTMR11; MTMR12; MTMR14; SBF1; SBF2;

Related Research Articles

<span class="mw-page-title-main">Kinase</span> Enzyme catalyzing transfer of phosphate groups onto specific substrates

In biochemistry, a kinase is an enzyme that catalyzes the transfer of phosphate groups from high-energy, phosphate-donating molecules to specific substrates. This process is known as phosphorylation, where the high-energy ATP molecule donates a phosphate group to the substrate molecule. This transesterification produces a phosphorylated substrate and ADP. Conversely, it is referred to as dephosphorylation when the phosphorylated substrate donates a phosphate group and ADP gains a phosphate group. These two processes, phosphorylation and dephosphorylation, occur four times during glycolysis.

<span class="mw-page-title-main">Phosphatidylinositol 4,5-bisphosphate</span> Chemical compound

Phosphatidylinositol 4,5-bisphosphate or PtdIns(4,5)P2, also known simply as PIP2 or PI(4,5)P2, is a minor phospholipid component of cell membranes. PtdIns(4,5)P2 is enriched at the plasma membrane where it is a substrate for a number of important signaling proteins. PIP2 also forms lipid clusters that sort proteins.

<span class="mw-page-title-main">Phosphatidylinositol 3-phosphate</span> Chemical compound

Phosphatidylinositol 3-phosphate (PtdIns3P) is a phospholipid found in cell membranes that helps to recruit a range of proteins, many of which are involved in protein trafficking, to the membranes. It is the product of both the class II and III phosphoinositide 3-kinases activity on phosphatidylinositol.

<span class="mw-page-title-main">Phosphatidylinositol 3,4-bisphosphate</span>

Phosphatidylinositol (3,4)-bisphosphate is a minor phospholipid component of cell membranes, yet an important second messenger. The generation of PtdIns(3,4)P2 at the plasma membrane activates a number of important cell signaling pathways.

<span class="mw-page-title-main">Phosphatidylinositol 3,5-bisphosphate</span> Chemical compound

Phosphatidylinositol 3,5-bisphosphate is one of the seven phosphoinositides found in eukaryotic cell membranes. In quiescent cells, the PtdIns(3,5)P2 levels, typically quantified by HPLC, are the lowest amongst the constitutively present phosphoinositides. They are approximately 3 to 5-fold lower as compared to PtdIns3P and PtdIns5P levels, and more than 100-fold lower than the abundant PtdIns4P and PtdIns(4,5)P2. PtdIns(3,5)P2 was first reported to occur in mouse fibroblasts and budding yeast S. cerevisiae in 1997. In S. cerevisiae PtdIns(3,5)P2 levels increase dramatically during hyperosmotic shock. The response to hyperosmotic challenge is not conserved in most tested mammalian cells except for differentiated 3T3L1 adipocytes.

<span class="mw-page-title-main">Myelin protein zero</span> Protein-coding gene in the species Homo sapiens

Myelin protein zero is a single membrane glycoprotein which in humans is encoded by the MPZ gene. P0 is a major structural component of the myelin sheath in the peripheral nervous system (PNS). Myelin protein zero is expressed by Schwann cells and accounts for over 50% of all proteins in the peripheral nervous system, making it the most common protein expressed in the PNS. Mutations in myelin protein zero can cause myelin deficiency and are associated with neuropathies like Charcot–Marie–Tooth disease and Dejerine–Sottas disease.

<span class="mw-page-title-main">GRAM domain</span> Protein domain

The GRAM domain is found in glucosyltransferases, myotubularins and other membrane-associated proteins. The structure of the GRAM domain is similar to that found in PH domains.

<span class="mw-page-title-main">Myotubularin 1</span> Protein-coding gene in the species Homo sapiens

Myotubularin is a protein that in humans is encoded by the MTM1 gene.

<span class="mw-page-title-main">KIF1B</span> Mammalian protein found in Homo sapiens

Kinesin-like protein KIF1B is a protein that in humans is encoded by the KIF1B gene.

<span class="mw-page-title-main">GDAP1</span> Protein-coding gene in the species Homo sapiens

Ganglioside-induced differentiation-associated protein 1 is a type of protein that in humans is encoded by the GDAP1 gene.

<span class="mw-page-title-main">MTMR3</span> Protein-coding gene in the species Homo sapiens

Myotubularin-related protein 3 is a protein that in humans is encoded by the MTMR3 gene.

<span class="mw-page-title-main">MTMR6</span> Protein-coding gene in the species Homo sapiens

Myotubularin-related protein 6 is a protein that in humans is encoded by the MTMR6 gene.

<span class="mw-page-title-main">MTMR2</span> Protein-coding gene in the species Homo sapiens

Myotubularin-related protein 2 also known as phosphatidylinositol-3,5-bisphosphate 3-phosphatase or phosphatidylinositol-3-phosphate phosphatase is a protein that in humans is encoded by the MTMR2 gene.

<span class="mw-page-title-main">SBF2</span> Protein-coding gene in the species Homo sapiens

Myotubularin-related protein 13 is a protein that in humans is encoded by the SBF2 gene.

<span class="mw-page-title-main">SBF1</span> Protein-coding gene in the species Homo sapiens

Myotubularin-related protein 5 is a protein that in humans is encoded by the SBF1 gene.

<span class="mw-page-title-main">MTMR1</span> Protein-coding gene in the species Homo sapiens

Myotubularin-related protein 1 is a protein that in humans is encoded by the MTMR1 gene.

Phosphatidylinositol 5-phosphate (PtdIns5P) is a phosphoinositide, one of the phosphorylated derivatives of phosphatidylinositol (PtdIns), that are well-established membrane-anchored regulatory molecules. Phosphoinositides participate in signaling events that control cytoskeletal dynamics, intracellular membrane trafficking, cell proliferation and many other cellular functions. Generally, phosphoinositides transduce signals by recruiting specific phosphoinositide-binding proteins to intracellular membranes.

<span class="mw-page-title-main">Fig4</span> Protein-coding gene in the species Homo sapiens

Polyphosphoinositide phosphatase also known as phosphatidylinositol 3,5-bisphosphate 5-phosphatase or SAC domain-containing protein 3 (Sac3) is an enzyme that in humans is encoded by the FIG4 gene. Fig4 is an abbreviation for Factor-Induced Gene.

<span class="mw-page-title-main">VAC14</span> Protein-coding gene in the species Homo sapiens

Protein VAC14 homolog, also known as ArPIKfyve, is a protein that in humans is encoded by the VAC14 gene.

<span class="mw-page-title-main">MTMR12</span> Protein-coding gene in the species Homo sapiens

Myotubularin related protein 12 is a protein that in humans is encoded by the MTMR12 gene.

References

  1. Begley MJ, Taylor GS, Kim SA, Veine DM, Dixon JE, Stuckey JA (December 2003). "Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome". Mol. Cell. 12 (6): 1391–402. doi: 10.1016/S1097-2765(03)00486-6 . PMID   14690594.
  2. Majerus PW, Nandurkar HH, Layton M, Laporte J, Selan C, Corcoran L, Caldwell KK, Mochizuki Y, Mitchell CA (2003). "Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP". Proc. Natl. Acad. Sci. U.S.A. 100 (15): 8660–8665. Bibcode:2003PNAS..100.8660N. doi: 10.1073/pnas.1033097100 . PMC   166368 . PMID   12847286.
  3. Suter U, Berger P, Bonneick S, Willi S, Wymann M (2002). "Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1". Hum. Mol. Genet. 11 (13): 1569–1579. doi: 10.1093/hmg/11.13.1569 . PMID   12045210.
This article incorporates text from the public domain Pfam and InterPro: IPR010569