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

AbstractUNLABELLED:
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 mis-sense 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, 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.
CONTACT:
AuthorsQuan-yuan He, Xiang-hua Liu, Qiang Li, David J Studholme, Xuan-wen Li, Song-ping Liang
JournalBioinformatics (Oxford, England) (Bioinformatics) Vol. 22 Issue 18 Pg. 2189-91 (Sep 15 2006) ISSN: 1367-4811 [Electronic] England
PMID16632497 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • CEMIP2 protein, human
  • Membrane Proteins
  • PKHD1 protein, human
  • Proteins
  • Receptors, Cell Surface
  • CEMIP protein, human
  • Hyaluronoglucosaminidase
Topics
  • Amino Acid Sequence
  • Animals
  • Conserved Sequence
  • Evolution, Molecular
  • Hearing Loss, Sensorineural (genetics, metabolism)
  • Hyaluronoglucosaminidase
  • Membrane Proteins (chemistry, genetics)
  • Molecular Sequence Data
  • Polycystic Kidney Diseases (genetics, metabolism)
  • Protein Structure, Tertiary
  • Proteins (chemistry, genetics)
  • Receptors, Cell Surface (chemistry, genetics)
  • Sequence Alignment (methods)
  • Sequence Analysis, Protein (methods)
  • Sequence Homology, Amino Acid
  • Species Specificity

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