The Sac domain-containing phosphoinositide phosphatases: structure, function, and disease

doi:10.1007/s11515-013-1258-y

Front Biol

2013, Vol. 8

Issue (4) : 395-407 https://doi.org/10.1007/s11515-013-1258-y

REVIEW

The Sac domain-containing phosphoinositide phosphatases: structure, function, and disease

FoSheng HSU, Yuxin MAO(

)

Weill Institute for Cell and Molecular Biology and Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY 14853, USA

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Abstract

Phosphoinositides (PIs) have long been known to have an essential role in cell physiology. Their intracellular localization and concentration must be tightly regulated for their proper function. This spatial and temporal regulation is achieved by a large number of PI kinases and phosphatases that are present throughout eukaryotic species. One family of these enzymes contains a conserved PI phosphatase domain termed Sac. Although the Sac domain is homologous among different Sac domain-containing proteins, all appear to exhibit varied substrate specificity and subcellular localization. Dysfunctions in several members of this family are implicated in a range of human diseases such as cardiac hypertrophy, bipolar disorder, Down’s syndrome, Charcot-Marie-Tooth disease (CMT) and Amyotrophic Lateral Sclerosis (ALS). In plant, several Sac domain-containing proteins have been implicated in the stress response, chloroplast function and polarized secretion. In this review, we focus on recent findings in the family of Sac domain-containing PI phosphatases in yeast, mammal and plant, including the structural analysis into the mechanism of enzymatic activity, cellular functions, and their roles in disease pathophysiology.

Keywords lipid metabolism membrane trafficking

Corresponding Author(s): MAO Yuxin,Email:ym253@cornell.edu

Issue Date: 01 August 2013

Cite this article:

FoSheng HSU,Yuxin MAO. The Sac domain-containing phosphoinositide phosphatases: structure, function, and disease[J]. Front Biol, 2013, 8(4): 395-407.

URL:

https://academic.hep.com.cn/fib/EN/10.1007/s11515-013-1258-y
https://academic.hep.com.cn/fib/EN/Y2013/V8/I4/395

Fig.1 Sac domain structure of yeast Sac1. (A) The Sac phosphatase domain is comprised of two sub-domains: a novel N-terminal domain (blue) and the catalytic domain (yellow). The loop colored red represents the CXR motif. (B) Space filling model of the Sac domain with residues colored based on evolutionary conservation, which is calculated by an evolution trace method (). The least and highest conserved residues are colored from white to yellow respectively.

Fig.2 Sac domain structure of yeast Sac1. (A) The Sac phosphatase domain is comprised of two sub-domains: a novel N-terminal domain (blue) and the catalytic domain (yellow). The loop colored red represents the CXR motif. (B) Space filling model of the Sac domain with residues colored based on evolutionary conservation, which is calculated by an evolution trace method (). The least and highest conserved residues are colored from white to yellow respectively.

Tab.1 Sac domain enzymatic activities and associated phenotypes.

Fig.3 Disease mutations mapping on themodeled structure of the Sac domain of human Sac3/Fig4. The Sac domain of human Sac3 is modeled based on the crystal structure of yeast Sac1 with the MODELER program ().The local structural environment of six known CMT4J and ALS associated mutations are shown in zoomed-in panels.

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