BBS12 - Bardet-Biedl syndrome 12-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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166379 BBS12

基因描述

Type	Description
Definition	Bardet-Biedl syndrome 12

研究结论

Date	Results	Publications
2015-07-25 10:35:00	novel BBS12 mutations in Bardet-Biedl syndrome patients in Spain	24611592
2013-01-12 10:49:00	BBS12 inactivation increases glucose absorption by mature human adipocytes, increases insulin sensitivity, enhances glucose absorption and increases triglyceride content.	22958920
2010-11-27 11:00:00	Mutation in BBS12 accounts for Bardet-Biedl syndrome and termination of pregnancy of a fetus.	20827784
2010-10-23 11:04:00	Using sequence analysis, the role of BBS6, 10 and 12 was assessed in a Bardet-Biedl syndrome patient population comprising 93 cases from 74 families.	20472660
2010-01-21 00:00:00	the BBS10 and BBS12 proteins are located within the basal body of this primary cilium and inhibition of their expression impairs ciliogenesis, activates the GSK3 pathway, and induces PPAR nuclear accumulation, hence favoring adipogenesis	19190184

名称对应

Type	IDs
Synonymous	C4orf24
Gene	UniProtKB-ID: BBS12_HUMAN UniprotKB: Q6ZW61 UniParc: UPI0000231CAC EMBL: AK123553, BC055426, AK092949, BX538148, AC053545, CH471056 Ensembl: ENSG00000181004 KO: hsa:166379
Nucleutide sequences	EMBL-CDS: AAH55426.1, EAX05223.1, BAC85644.1, BAC04006.1, EAX05224.1, CAD98035.1 Ensembl_TRS: ENST00000314218, ENST00000542236
Protein sequencees	Ensembl_PRO: ENSP00000319062, ENSP00000438273 RefSeq: XP_016863320.1, NP_689831.2, NP_001171478.1, XP_011529982.1
Others	UniRef100: UniRef100_Q6ZW61 UniRef90: UniRef90_Q6ZW61 UniRef50: UniRef50_Q6ZW61 UniGene: Hs.400698 CCDS: CCDS3728.1

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mRNA

Protein

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Refseq

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Pubmed编号	文献信息	发表日期	相关基因
28514442	Architecture of the human interactome defines protein communities and disease networks. Nature Edward L Huttlin , Raphael J Bruckner , Joao A Paulo , Joe R Cannon , Lily Ting , Kurt Baltier , Greg Colby , Fana Gebreab , Melanie P Gygi , Hannah Parzen , John Szpyt , Stanley Tam , Gabriela Zarraga , Laura Pontano-Vaites , Sharan Swarup , Anne E White , Devin K Schweppe , Ramin Rad , Brian K Erickson , Robert A Obar , K G Guruharsha , Kejie Li , Spyros Artavanis-Tsakonas , Steven P Gygi , J Wade Harper	2017-05-25	-
27173435	An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. Nat Commun Karsten Boldt , Jeroen van Reeuwijk , Qianhao Lu , Konstantinos Koutroumpas , Thanh-Minh T Nguyen , Yves Texier , Sylvia E C van Beersum , Nicola Horn , Jason R Willer , Dorus A Mans , Gerard Dougherty , Ideke J C Lamers , Karlien L M Coene , Heleen H Arts , Matthew J Betts , Tina Beyer , Emine Bolat , Christian Johannes Gloeckner , Khatera Haidari , Lisette Hetterschijt , Daniela Iaconis , Dagan Jenkins , Franziska Klose , Barbara Knapp , Brooke Latour , Stef J F Letteboer , Carlo L Marcelis , Dragana Mitic , Manuela Morleo , Machteld M Oud , Moniek Riemersma , Susan Rix , Paulien A Terhal , Grischa Toedt , Teunis J P van Dam , Erik de Vrieze , Yasmin Wissinger , Ka Man Wu , Gordana Apic , Philip L Beales , Oliver E Blacque , Toby J Gibson , Martijn A Huynen , Nicholas Katsanis , Hannie Kremer , Heymut Omran , Erwin van Wijk , Uwe Wolfrum , FranÃ§ois Kepes , Erica E Davis , Brunella Franco , Rachel H Giles , Marius Ueffing , Robert B Russell , Ronald Roepman , UK10K Rare Diseases Group	2016-05-13	-
26900326	A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome. Mol. Vis. John D Hulleman , Annie Nguyen , V L Ramprasad , Sakthivel Murugan , Ravi Gupta , Avinash Mahindrakar , Ravi Angara , Chandrasekhar Sankurathri , V Vinod Mootha	2016-01-01	-
24611592	Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes. Clin. Genet. M Ãlvarez-Satta , S Castro-SÃ¡nchez , I Pereiro , T PiÃ±eiro-Gallego , M Baiget , C Ayuso , D Valverde	2014-12-01	BBS12, BBS1, BBS10
22958920	BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response. Cell Metab. Vincent Marion , AnaÃ¯s Mockel , Charlie De Melo , Cathy Obringer , AurÃ©lie Claussmann , Alban Simon , Nadia Messaddeq , Myriam Durand , Luc Dupuis , Jean-Philippe Loeffler , Peter King , Catherine Mutter-Schmidt , Nikolai Petrovsky , Corinne Stoetzel , HÃ©lÃ¨ne Dollfus	2012-09-05	Lep, Bbs12, BBS12
22500027	Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. J Biol Chem Qihong Zhang , Dahai Yu , Seongjin Seo , Edwin M Stone , Val C Sheffield	2012-06-08	-
21873635	Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics Pascale Gaudet , Michael S Livstone , Suzanna E Lewis , Paul D Thomas	2011-09-01	-
20827784	Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10. Am J Med Genet A Eelco Dulfer , Lies H Hoefsloot , Albertus Timmer , Constantijne Mom , Anthonie J van Essen	2010-10-01	-
20472660	Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. J. Med. Genet. Gail Billingsley , Jenea Bin , Karen J Fieggen , Jacque L Duncan , Christina Gerth , Koji Ogata , Shoshana S Wodak , Elias I Traboulsi , Gerald A Fishman , Andrew Paterson , David Chitayat , Tanja Knueppel , JosÃ© M MillÃ¡n , Grant A Mitchell , Catherine Deveault , Elise HÃ©on	2010-07-01	BBS12, BBS7, BBS10, MKKS
20080638	BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. Proc Natl Acad Sci U S A Seongjin Seo , Lisa M Baye , Nathan P Schulz , John S Beck , Qihong Zhang , Diane C Slusarski , Val C Sheffield	2010-01-26	-

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