Abstract | UNLABELLED: 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:
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Authors | Quan-yuan He, Xiang-hua Liu, Qiang Li, David J Studholme, Xuan-wen Li, Song-ping Liang |
Journal | Bioinformatics (Oxford, England)
(Bioinformatics)
Vol. 22
Issue 18
Pg. 2189-91
(Sep 15 2006)
ISSN: 1367-4811 [Electronic] England |
PMID | 16632497
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- CEMIP2 protein, human
- Membrane Proteins
- PKHD1 protein, human
- Proteins
- Receptors, Cell Surface
- CEMIP protein, human
- Hyaluronoglucosaminidase
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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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