TY - JOUR
T1 - iMusta4SLC
T2 - Database for the structural property and variations of solute carrier transporters
AU - Higuchi, Akiko
AU - Nonaka, Naoki
AU - Yura, Kei
N1 - Funding Information:
This research is supported by Platform Project for Supporting Drug Discovery and Life Science Research (Basis for Supporting Innovative Drug Discovery and Life Science Research (BINDS)) from Japan Agency for Medical Research and Development (AMED) under Grant Number JP17am 0101065.
Publisher Copyright:
© 2018 THE BIOPHYSICAL SOCIETY OF JAPAN.
PY - 2018
Y1 - 2018
N2 - Membrane transporter proteins play important roles in transport of nutrients into the cell, in transport of waste out of the cell, in maintenance of homeostasis, and in signal transduction. Solute carrier (SLC) transporter is the superfamily, which has the largest number of genes (>400 in humans) in membrane transporter and consists of 52 families. SLC transporters carry a wide variety of substrates such as amino acids, peptides, saccharides, ions, neurotransmitters, lipids, hormones and related materials. Despite the apparent importance for the substrate transport, the information of sequence variation and three-dimensional structures have not been inte-grated to the level of providing new knowledge on the relationship to, for instance, diseases. We, therefore, built a new database named iMusta4SLC, which is available at http://cib.cf.ocha.ac.jp/slc/, that connected the data of structural properties and of pathogenic mutations on human SLC transporters. iMusta4SLC helps to investi-gate the structural features of pathogenic mutations on SLC transporters. With this database, we found that the mutations at the conserved arginine were frequently involved in diseases, and were located at a border between the membrane and the cytoplasm. Especially in SLC families 2 and 22, the conserved residues formed a large cluster at the border. In SLC2A1, one third of the reported pathogenic missense mutations were found in this conserved cluster.
AB - Membrane transporter proteins play important roles in transport of nutrients into the cell, in transport of waste out of the cell, in maintenance of homeostasis, and in signal transduction. Solute carrier (SLC) transporter is the superfamily, which has the largest number of genes (>400 in humans) in membrane transporter and consists of 52 families. SLC transporters carry a wide variety of substrates such as amino acids, peptides, saccharides, ions, neurotransmitters, lipids, hormones and related materials. Despite the apparent importance for the substrate transport, the information of sequence variation and three-dimensional structures have not been inte-grated to the level of providing new knowledge on the relationship to, for instance, diseases. We, therefore, built a new database named iMusta4SLC, which is available at http://cib.cf.ocha.ac.jp/slc/, that connected the data of structural properties and of pathogenic mutations on human SLC transporters. iMusta4SLC helps to investi-gate the structural features of pathogenic mutations on SLC transporters. With this database, we found that the mutations at the conserved arginine were frequently involved in diseases, and were located at a border between the membrane and the cytoplasm. Especially in SLC families 2 and 22, the conserved residues formed a large cluster at the border. In SLC2A1, one third of the reported pathogenic missense mutations were found in this conserved cluster.
KW - arginine
KW - disease
KW - protein three-dimensional structure
KW - sequence variation
KW - solute carrier transporter
UR - http://www.scopus.com/inward/record.url?scp=85076439318&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85076439318&partnerID=8YFLogxK
U2 - 10.2142/biophysico.15.0_94
DO - 10.2142/biophysico.15.0_94
M3 - Article
AN - SCOPUS:85076439318
SN - 1349-2942
VL - 15
SP - 94
EP - 103
JO - Biophysics and physicobiology
JF - Biophysics and physicobiology
ER -
