Phosphatase Subfamily FIG4 - Revision history

Gerard: /* Domain */

2017-03-26T18:31:10Z

‎Domain

Gerard: /* Evolution */

2017-03-26T18:30:43Z

‎Evolution

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2017-03-26T18:28:22Z

‎Function

Mark: /* References */

2015-05-01T14:57:58Z

‎References

Mark: /* Function */

2015-05-01T14:57:42Z

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Mark: /* Function */

2015-04-15T18:29:34Z

‎Function

Mark at 18:16, 15 April 2015

2015-04-15T18:16:53Z

Mark: /* Function */

2015-04-15T17:54:30Z

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Mark: /* References */

2015-04-15T17:52:33Z

‎References

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2015-04-15T17:52:14Z

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 === Domain ===
-The FIG4 (SAC3) subfamily has a single structural domain, SAC phosphatase domain.
+FIG4 has a single structural domain, SAC phosphatase domain.
 === Function ===

@@ Line 5: / Line 5: @@
 === Evolution ===
-The FIG4 (SAC3) subfamily is conserved in eukaryotes. It is present in almost all the 203 eukaryotic genomes in [http://resdev.gene.com/gOrtholog/view/cluster/MC0000617/overview gOrtholog database (internal)].
+The FIG4 is found in almost all eukaryotes, including a single gene in human (FIG4/SAC3).
 === Domain ===

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 === Function ===
-FIG4 (SAC3) is a phosphatase with its catalytic specificity toward 5'-phosphate of phosphatidylinositol-3,5-diphosphate (PI3,5P2). It regulates the level of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2)  phosphatase in the vacuolar membrane, in complex with PIKfyve (the sole kinase for PtdIns(3,5)P2 synthesis) and the PIKfyve activator ArPIKfyve <cite>Zou15</cite>. PtdIns(3,5)P2, a low abundance PI comprising as little as 0.8% of total PIs in mammalian cells, mediates essential aspects of endocytic membrane homeostasis and coordinates fission and fusion events in the multivesicular endosomal system of mammalian cells <cite>Ikonomov09</cite>. FIG4 (SAC3) functions in the complex with PIKfyve (the sole kinase for PtdIns(3,5)P2 synthesis) and the PIKfyve activator ArPIKfyve <cite>Sbrissa07, Sbrissa08</cite>. The triple PIKfyve-ArPIKfyve-Sac3 (PAS) complex ensures the PtdIns(3,5)P2 homeostatic control by rapid turnover counterbalancing locally elevated PtdIns(3,5)P2 <cite>Ikonomov09</cite>.   A model of domain interactions within the PAS core and their role in regulating the enzymatic activities was summarized in Figure 6 of <cite>Ikonomov09</cite>.
+FIG4 (SAC3) is a phosphatase specificity for 5'-phosphate of phosphatidylinositol-3,5-diphosphate (PI3,5P2; PtdIns(3,5)P2), a rare phosphoinositide (<1% of total PI in mammalian cells) that mediates essential aspects of endocytic membrane homeostasis and coordinates fission and fusion events in the multivesicular endosomal system of mammalian cells <cite>Ikonomov09</cite>. PtdIns(3,5)P2 is found in the vacuolar membrane, and levels are regulated by FIG4, PIKfyve (the sole kinase for PtdIns(3,5)P2 synthesis) and the PIKfyve activator ArPIKfyve <cite>Zou15</cite>. The triple PIKfyve-ArPIKfyve-Sac3 (PAS) complex ensures the PtdIns(3,5)P2 homeostatic control by rapid turnover counterbalancing locally elevated PtdIns(3,5)P2 <cite>Ikonomov09</cite>.   A model of domain interactions within the PAS core and their role in regulating the enzymatic activities was summarized in Figure 6 of <cite>Ikonomov09</cite>.
-FIG4 (SAC3) with deleterious mutations causes neurodegeneration in patients with a form of autosomal recessive Charcot-Marie-Tooth disorder, CMT4J and in the pale tremor mouse <cite>Chow07, Ikonomov10, Nicholson11</cite>. It also causes [http://en.wikipedia.org/wiki/Yunis–Varon_syndrome Yunis-Varón syndrome] <cite>Campeau13, Nakajima13</cite>. In addition, it is also a risk factor of amyotrophic lateral sclerosis (ALS) <cite>Chow09, Kon14</cite>.
+Mutations in FIG4 cause neurodegeneration in patients with a form of autosomal recessive Charcot-Marie-Tooth disorder, CMT4J and in the pale tremor mouse <cite>Chow07, Ikonomov10, Nicholson11</cite>. It also causes [http://en.wikipedia.org/wiki/Yunis–Varon_syndrome Yunis-Varón syndrome] <cite>Campeau13, Nakajima13</cite>. In addition, it is also a risk factor of amyotrophic lateral sclerosis (ALS) <cite>Chow09, Kon14</cite>.
-FIG4 (SAC3) is widely expressed in different tissues (see [http://www.gtexportal.org/home/gene/FIG4 GTEx]).
+FIG4 is widely expressed in different tissues (see [http://www.gtexportal.org/home/gene/FIG4 GTEx]).,
 === References ===

@@ Line 29: / Line 29: @@
 #Sbrissa07 pmid=17556371
 #Sbrissa08 pmid=18950639
 </biblio>

@@ Line 11: / Line 11: @@
 === Function ===
-FIG4 (SAC3) is a phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2)  phosphatase located in the vacuolar membrane. PtdIns(3,5)P2, a low abundance PI comprising as little as 0.8% of total PIs in mammalian cells, mediates essential aspects of endocytic membrane homeostasis and coordinates fission and fusion events in the multivesicular endosomal system of mammalian cells <cite>Ikonomov09</cite>. FIG4 (SAC3) functions in the complex with PIKfyve (the sole kinase for PtdIns(3,5)P2 synthesis) and the PIKfyve activator ArPIKfyve <cite>Sbrissa07, Sbrissa08</cite>. The triple PIKfyve-ArPIKfyve-Sac3 (PAS) complex ensures the PtdIns(3,5)P2 homeostatic control by rapid turnover counterbalancing locally elevated PtdIns(3,5)P2 <cite>Ikonomov09</cite>.   A model of domain interactions within the PAS core and their role in regulating the enzymatic activities was summarized in Figure 6 of <cite>Ikonomov09</cite>.
+FIG4 (SAC3) is a phosphatase with its catalytic specificity toward 5'-phosphate of phosphatidylinositol-3,5-diphosphate (PI3,5P2). It regulates the level of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2)  phosphatase in the vacuolar membrane, in complex with PIKfyve (the sole kinase for PtdIns(3,5)P2 synthesis) and the PIKfyve activator ArPIKfyve <cite>Zou15</cite>. PtdIns(3,5)P2, a low abundance PI comprising as little as 0.8% of total PIs in mammalian cells, mediates essential aspects of endocytic membrane homeostasis and coordinates fission and fusion events in the multivesicular endosomal system of mammalian cells <cite>Ikonomov09</cite>. FIG4 (SAC3) functions in the complex with PIKfyve (the sole kinase for PtdIns(3,5)P2 synthesis) and the PIKfyve activator ArPIKfyve <cite>Sbrissa07, Sbrissa08</cite>. The triple PIKfyve-ArPIKfyve-Sac3 (PAS) complex ensures the PtdIns(3,5)P2 homeostatic control by rapid turnover counterbalancing locally elevated PtdIns(3,5)P2 <cite>Ikonomov09</cite>.   A model of domain interactions within the PAS core and their role in regulating the enzymatic activities was summarized in Figure 6 of <cite>Ikonomov09</cite>.
 FIG4 (SAC3) with deleterious mutations causes neurodegeneration in patients with a form of autosomal recessive Charcot-Marie-Tooth disorder, CMT4J and in the pale tremor mouse <cite>Chow07, Ikonomov10, Nicholson11</cite>. It also causes [http://en.wikipedia.org/wiki/Yunis–Varon_syndrome Yunis-Varón syndrome] <cite>Campeau13, Nakajima13</cite>. In addition, it is also a risk factor of amyotrophic lateral sclerosis (ALS) <cite>Chow09, Kon14</cite>.

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 __NOTOC__
 [[Phosphatase classification|Phosphatase Classification]]: [[Phosphatase_Fold_CC1|Fold CC1]]: [[Phosphatase_Superfamily_CC1|Superfamily CC1]]:  [[Phosphatase_Family_Sac|Family Sac]]: [[Phosphatase_Subfamily_FIG4|Subfamily FIG4]] (SAC3)
 === Evolution ===
@@ Line 9: / Line 11: @@
 === Function ===
-FIG4 is a phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2)  phosphatase. It functions in the complex with PIKfyve (the sole kinase for PtdIns(3,5)P2 synthesis) and the PIKfyve activator ArPIKfyve. The triple PIKfyve-ArPIKfyve-Sac3 (PAS) complex ensures the PtdIns(3,5)P2 homeostatic control by rapid turnover counterbalancing locally elevated PtdIns(3,5)P2. PtdIns(3,5)P2, a low abundance PI comprising as little as 0.8% of total PIs in mammalian cells, mediates essential aspects of endocytic membrane homeostasis and coordinates fission and fusion events in the multivesicular endosomal system of mammalian cells <cite>Ikonomov09</cite>.  A model of domain interactions within the PAS core and their role in regulating the enzymatic activities was summarized in Figure 6 of <cite>Ikonomov09</cite>.
+FIG4 (SAC3) is a phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2)  phosphatase located in the vacuolar membrane. PtdIns(3,5)P2, a low abundance PI comprising as little as 0.8% of total PIs in mammalian cells, mediates essential aspects of endocytic membrane homeostasis and coordinates fission and fusion events in the multivesicular endosomal system of mammalian cells <cite>Ikonomov09</cite>. FIG4 (SAC3) functions in the complex with PIKfyve (the sole kinase for PtdIns(3,5)P2 synthesis) and the PIKfyve activator ArPIKfyve <cite>Sbrissa07, Sbrissa08</cite>. The triple PIKfyve-ArPIKfyve-Sac3 (PAS) complex ensures the PtdIns(3,5)P2 homeostatic control by rapid turnover counterbalancing locally elevated PtdIns(3,5)P2 <cite>Ikonomov09</cite>.   A model of domain interactions within the PAS core and their role in regulating the enzymatic activities was summarized in Figure 6 of <cite>Ikonomov09</cite>.
 === References ===
 <biblio>
 #Ikonomov09 pmid=19840946
 </biblio>