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Bioinformatics Advance Access published online on April 21, 2006
Bioinformatics, doi:10.1093/bioinformatics/btl123
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© The Author (2006). Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org
Received February 22, 2006
Revised March 25, 2006
Accepted March 27, 2006

Discovery note

G8: a novel domain associated with polycystic kidney disease and non-syndromic hearing loss

Quan-yuan He 1, Xiang-hua Liu 2, Qiang Li 2, David J. Studholme 3, Xuan-wen Li 1, and Song-ping Liang 1 *

1 Key Laboratory of Protein Chemistry and Developmental Biology of Education Committee, College of Life Sciences, Hunan Normal University, Changsha, P.R. China
2 State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Handan Road 220, Shanghai 200433, P.R. China
3 The Sainsbury Laboratory, Norwich, NR4 7UH, UK

* To whom correspondence should be addressed.
Song-ping Liang, E-mail: liangsp{at}hunnu.edu.cn


  Abstract

Summary: We report a novel protein domain - G8, which contains five repeated {beta}-strand pairs and is present in some disease-related proteins such as PKHD1, KIAA1199, TMEM2 as well as other uncharacterized proteins. Most G8-containing proteins are predicted to be membrane-integral or secreted. The G8 domain may be involved in extracellular ligand binding and catalysis. It has been reported that missense mutations in the two G8 domains of human PKHD1 protein resulted in a less stable protein and are associated with autosomal-recessive polycystic kidney disease (ARPKD), indicating the importance of the domain structure. G8 is also present in the N-terminus of some non-syndromic hearing loss disease-related proteins such as KIAA1109 and TMEM2. Discovery of G8 domain will be important for the research of the structure/function of related proteins and beneficial for the development of novel therapeutics.

Associate Editor: Alex Bateman
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