G8: a novel domain associated with polycystic kidney disease and non-syndromic hearing loss
We report a novel protein domain—G8—which contains five repeated β-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 b...
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| Veröffentlicht in: | Bioinformatics 2006-09, Vol.22 (18), p.2189-2191 |
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| container_title | Bioinformatics |
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| creator | He, Quan-yuan Liu, Xiang-hua Li, Qiang Studholme, David J. Li, Xuan-wen Liang, Song-ping |
| description | We report a novel protein domain—G8—which contains five repeated β-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:liangsp@hunnu.edu.cn |
| doi_str_mv | 10.1093/bioinformatics/btl123 |
| format | Article |
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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. 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Data processing in biology (general aspects) ; Membrane Proteins - chemistry ; Membrane Proteins - genetics ; Molecular Sequence Data ; Polycystic Kidney Diseases - genetics ; Polycystic Kidney Diseases - metabolism ; Protein Structure, Tertiary ; Proteins - chemistry ; Proteins - genetics ; Receptors, Cell Surface - chemistry ; Receptors, Cell Surface - genetics ; Sequence Alignment - methods ; Sequence Analysis, Protein - methods ; Sequence Homology, Amino Acid ; Species Specificity</subject><ispartof>Bioinformatics, 2006-09, Vol.22 (18), p.2189-2191</ispartof><rights>2007 INIST-CNRS</rights><rights>Copyright Oxford University Press(England) Sep 15, 2006</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c480t-6b0792479fa8714ab71450b369f0d5885ef1b9089d19a9e45fd8d2321f7fcdc3</citedby><cites>FETCH-LOGICAL-c480t-6b0792479fa8714ab71450b369f0d5885ef1b9089d19a9e45fd8d2321f7fcdc3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=18155907$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16632497$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>He, Quan-yuan</creatorcontrib><creatorcontrib>Liu, Xiang-hua</creatorcontrib><creatorcontrib>Li, Qiang</creatorcontrib><creatorcontrib>Studholme, David J.</creatorcontrib><creatorcontrib>Li, Xuan-wen</creatorcontrib><creatorcontrib>Liang, Song-ping</creatorcontrib><title>G8: a novel domain associated with polycystic kidney disease and non-syndromic hearing loss</title><title>Bioinformatics</title><addtitle>Bioinformatics</addtitle><description>We report a novel protein domain—G8—which contains five repeated β-strand pairs and is present in some disease-related proteins such as PKHD1, KIAA1199, TMEM2 as well as other uncharacterized proteins. 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Psychology</subject><subject>General aspects</subject><subject>Hearing Loss, Sensorineural - genetics</subject><subject>Hearing Loss, Sensorineural - metabolism</subject><subject>Mathematics in biology. Statistical analysis. Models. Metrology. Data processing in biology (general aspects)</subject><subject>Membrane Proteins - chemistry</subject><subject>Membrane Proteins - genetics</subject><subject>Molecular Sequence Data</subject><subject>Polycystic Kidney Diseases - genetics</subject><subject>Polycystic Kidney Diseases - metabolism</subject><subject>Protein Structure, Tertiary</subject><subject>Proteins - chemistry</subject><subject>Proteins - genetics</subject><subject>Receptors, Cell Surface - chemistry</subject><subject>Receptors, Cell Surface - genetics</subject><subject>Sequence Alignment - methods</subject><subject>Sequence Analysis, Protein - methods</subject><subject>Sequence Homology, Amino Acid</subject><subject>Species Specificity</subject><issn>1367-4803</issn><issn>1460-2059</issn><issn>1367-4811</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0U1rFDEYB_BBLLZWP4ISBL1Nm_cXb3XRrlDwsgfRQ8jkxaadSdZktnW-vdFdLHrxkgTye57k4d91LxA8Q1CR8yHmmEIuk5mjrefDPCJMHnUniHLYY8jU43YmXPRUQnLcPa31BkKGKKVPumPEOcFUiZPu66V8CwxI-c6PwOXJxARMrdlGM3sH7uN8DbZ5XOxS2zvgNrrkF-Bi9aZ6YJJrpamvS3IlTw1ce1Ni-gbGXOuz7iiYsfrnh_2023x4v1mt-6tPlx9XF1e9bX-bez5AoTAVKhgpEDVDWxgcCFcBOiYl8wENCkrlkDLKUxacdJhgFESwzpLT7s2-7bbk7ztfZz3Fav04muTzrmouJcUIiv9CpCjHUuAGX_0Db_KupDZDM5IzIglriO2RLW3W4oPeljiZsmgE9a-I9N8R6X1Ere7loflumLx7qDpk0sDrAzDVmjEUk2ysD04ixtTvcfq9i3X2P_7cm3KruSCC6fXnL3pFN-uNJO80Jz8B7YauIQ</recordid><startdate>20060915</startdate><enddate>20060915</enddate><creator>He, Quan-yuan</creator><creator>Liu, Xiang-hua</creator><creator>Li, Qiang</creator><creator>Studholme, David J.</creator><creator>Li, Xuan-wen</creator><creator>Liang, Song-ping</creator><general>Oxford University Press</general><general>Oxford Publishing Limited (England)</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QF</scope><scope>7QO</scope><scope>7QQ</scope><scope>7SC</scope><scope>7SE</scope><scope>7SP</scope><scope>7SR</scope><scope>7TA</scope><scope>7TB</scope><scope>7TM</scope><scope>7TO</scope><scope>7U5</scope><scope>8BQ</scope><scope>8FD</scope><scope>F28</scope><scope>FR3</scope><scope>H8D</scope><scope>H8G</scope><scope>H94</scope><scope>JG9</scope><scope>JQ2</scope><scope>K9.</scope><scope>KR7</scope><scope>L7M</scope><scope>L~C</scope><scope>L~D</scope><scope>P64</scope><scope>7X8</scope></search><sort><creationdate>20060915</creationdate><title>G8: a novel domain associated with polycystic kidney disease and non-syndromic hearing loss</title><author>He, Quan-yuan ; Liu, Xiang-hua ; Li, Qiang ; Studholme, David J. ; Li, Xuan-wen ; Liang, Song-ping</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c480t-6b0792479fa8714ab71450b369f0d5885ef1b9089d19a9e45fd8d2321f7fcdc3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>Amino Acid Sequence</topic><topic>Animals</topic><topic>Biological and medical sciences</topic><topic>Conserved Sequence</topic><topic>Evolution, Molecular</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>General aspects</topic><topic>Hearing Loss, Sensorineural - genetics</topic><topic>Hearing Loss, Sensorineural - metabolism</topic><topic>Mathematics in biology. Statistical analysis. Models. Metrology. Data processing in biology (general aspects)</topic><topic>Membrane Proteins - chemistry</topic><topic>Membrane Proteins - genetics</topic><topic>Molecular Sequence Data</topic><topic>Polycystic Kidney Diseases - genetics</topic><topic>Polycystic Kidney Diseases - metabolism</topic><topic>Protein Structure, Tertiary</topic><topic>Proteins - chemistry</topic><topic>Proteins - genetics</topic><topic>Receptors, Cell Surface - chemistry</topic><topic>Receptors, Cell Surface - genetics</topic><topic>Sequence Alignment - methods</topic><topic>Sequence Analysis, Protein - methods</topic><topic>Sequence Homology, Amino Acid</topic><topic>Species Specificity</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>He, Quan-yuan</creatorcontrib><creatorcontrib>Liu, Xiang-hua</creatorcontrib><creatorcontrib>Li, Qiang</creatorcontrib><creatorcontrib>Studholme, David J.</creatorcontrib><creatorcontrib>Li, Xuan-wen</creatorcontrib><creatorcontrib>Liang, Song-ping</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Aluminium Industry Abstracts</collection><collection>Biotechnology Research Abstracts</collection><collection>Ceramic Abstracts</collection><collection>Computer and Information Systems Abstracts</collection><collection>Corrosion Abstracts</collection><collection>Electronics & Communications Abstracts</collection><collection>Engineered Materials Abstracts</collection><collection>Materials Business File</collection><collection>Mechanical & Transportation Engineering Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>Solid State and Superconductivity Abstracts</collection><collection>METADEX</collection><collection>Technology Research Database</collection><collection>ANTE: Abstracts in New Technology & Engineering</collection><collection>Engineering Research Database</collection><collection>Aerospace Database</collection><collection>Copper Technical Reference Library</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>Materials Research Database</collection><collection>ProQuest Computer Science Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Civil Engineering Abstracts</collection><collection>Advanced Technologies Database with Aerospace</collection><collection>Computer and Information Systems Abstracts Academic</collection><collection>Computer and Information Systems Abstracts Professional</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Bioinformatics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>He, Quan-yuan</au><au>Liu, Xiang-hua</au><au>Li, Qiang</au><au>Studholme, David J.</au><au>Li, Xuan-wen</au><au>Liang, Song-ping</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>G8: a novel domain associated with polycystic kidney disease and non-syndromic hearing loss</atitle><jtitle>Bioinformatics</jtitle><addtitle>Bioinformatics</addtitle><date>2006-09-15</date><risdate>2006</risdate><volume>22</volume><issue>18</issue><spage>2189</spage><epage>2191</epage><pages>2189-2191</pages><issn>1367-4803</issn><eissn>1460-2059</eissn><eissn>1367-4811</eissn><coden>BOINFP</coden><abstract>We report a novel protein domain—G8—which contains five repeated β-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:liangsp@hunnu.edu.cn</abstract><cop>Oxford</cop><pub>Oxford University Press</pub><pmid>16632497</pmid><doi>10.1093/bioinformatics/btl123</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record> |
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| source | Oxford Journals Open Access Collection; MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection |
| subjects | Amino Acid Sequence Animals Biological and medical sciences Conserved Sequence Evolution, Molecular Fundamental and applied biological sciences. Psychology General aspects Hearing Loss, Sensorineural - genetics Hearing Loss, Sensorineural - metabolism Mathematics in biology. Statistical analysis. Models. Metrology. Data processing in biology (general aspects) Membrane Proteins - chemistry Membrane Proteins - genetics Molecular Sequence Data Polycystic Kidney Diseases - genetics Polycystic Kidney Diseases - metabolism Protein Structure, Tertiary Proteins - chemistry Proteins - genetics Receptors, Cell Surface - chemistry Receptors, Cell Surface - genetics Sequence Alignment - methods Sequence Analysis, Protein - methods Sequence Homology, Amino Acid Species Specificity |
| title | G8: a novel domain associated with polycystic kidney disease and non-syndromic hearing loss |
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