B9d1 - B9 protein domain 1-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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27078 B9d1

基因描述

Type	Description
Definition	B9 protein domain 1

研究结论

Date	Results	Publications
2011-09-24 11:06:00	B9d1 is required for normal Hh signaling, ciliogenesis, and ciliary protein localization. B9d1 and B9d2 are essential components of a B9 protein complex, disruption of which causes Meckel syndrome.	21763481

名称对应

Type	IDs
Synonymous	AW045994, B9, Eppb9
Gene	UniProtKB-ID: B9D1_MOUSE UniprotKB: Q9R1S0 UniParc: UPI0000020B13 EMBL: BC008113, AK131701, AK003038, AK010355, AB030483, AL604029 Ensembl: ENSMUSG00000001039 KO: mmu:27078
Nucleutide sequences	EMBL-CDS: BAE20767.1, BAB26875.1, AAH08113.1, BAB22525.1, BAA82643.1 Ensembl_TRS: ENSMUST00000102657
Protein sequencees	Ensembl_PRO: ENSMUSP00000099717 RefSeq: NP_001317710.1, NP_001317709.1, NP_038745.1, XP_006533510.1, XP_006533511.1
Others	UniRef100: UniRef100_Q9R1S0 UniRef90: UniRef90_Q9R1S0 UniRef50: UniRef50_Q9R1S0 UniGene: Mm.261226 CCDS: CCDS24815.1

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mRNA

Protein

UniprotKB

Description

Refseq

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Pubmed编号	文献信息	发表日期	相关基因
27340223	Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms. Hum. Mol. Genet. Ozanna Burnicka-Turek , Jeffrey D Steimle , Wenhui Huang , Lindsay Felker , Anna Kamp , Junghun Kweon , Michael Peterson , Roger H Reeves , Cheryl L Maslen , Peter J Gruber , Xinan H Yang , Jay Shendure , Ivan P Moskowitz	2016-07-15	-
25869670	TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. J. Cell Biol. Elle C Roberson , William E Dowdle , Aysegul Ozanturk , Francesc R Garcia-Gonzalo , Chunmei Li , Jan Halbritter , Nadia Elkhartoufi , Jonathan D Porath , Heidi Cope , Allison Ashley-Koch , Simon Gregory , Sophie Thomas , John A Sayer , Sophie Saunier , Edgar A Otto , Nicholas Katsanis , Erica E Davis , Tania AttiÃ©-Bitach , Friedhelm Hildebrandt , Michel R Leroux , Jeremy F Reiter	2015-04-13	-
24969356	Bioinformatic analysis of ciliary transition zone proteins reveals insights into the evolution of ciliopathy networks. BMC Genomics Amy R Barker , Karen S Renzaglia , Kimberley Fry , Helen R Dawe	2014-06-26	-
24886560	Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. Orphanet J Rare Dis Marta Romani , Alessia Micalizzi , Ichraf Kraoua , Maria Teresa Dotti , Mara Cavallin , LÃ¡szlÃ³ Sztriha , Rosario Ruta , Francesca Mancini , Tommaso Mazza , Stefano Castellana , Benrhouma Hanene , Maria Alessandra Carluccio , Francesca Darra , Adrienn MÃ¡tÃ© , AlÃz Zimmermann , Neziha Gouider-Khouja , Enza Maria Valente	2014-05-05	-
22179047	A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain. Nat Cell Biol Ben Chih , Peter Liu , Yvonne Chinn , Cecile Chalouni , Laszlo G Komuves , Philip E Hass , Wendy Sandoval , Andrew S Peterson	2011-12-18	-
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	-
21763481	Disruption of a ciliary B9 protein complex causes Meckel syndrome. Am. J. Hum. Genet. William E Dowdle , Jon F Robinson , Andreas Kneist , M SalomÃ© Sirerol-Piquer , Suzanna G M Frints , Kevin C Corbit , Norann A Zaghloul , Norran A Zaghloul , Gesina van Lijnschoten , Leon Mulders , Dideke E Verver , Klaus Zerres , Randall R Reed , Tania AttiÃ©-Bitach , Colin A Johnson , JosÃ© Manuel GarcÃa-Verdugo , Nicholas Katsanis , Carsten Bergmann , Jeremy F Reiter	2011-07-15	-
21725307	A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat. Genet. Francesc R Garcia-Gonzalo , Kevin C Corbit , MarÃa SalomÃ© Sirerol-Piquer , Gokul Ramaswami , Edgar A Otto , Thomas R Noriega , Allen D Seol , Jon F Robinson , Christopher L Bennett , Dragana J Josifova , JosÃ© Manuel GarcÃa-Verdugo , Nicholas Katsanis , Friedhelm Hildebrandt , Jeremy F Reiter	2011-07-03	-
21677750	A conditional knockout resource for the genome-wide study of mouse gene function. Nature William C Skarnes , Barry Rosen , Anthony P West , Manousos Koutsourakis , Wendy Bushell , Vivek Iyer , Alejandro O Mujica , Mark Thomas , Jennifer Harrow , Tony Cox , David Jackson , Jessica Severin , Patrick Biggs , Jun Fu , Michael Nefedov , Pieter J de Jong , A Francis Stewart , Allan Bradley	2011-06-15	-
21565611	Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell Liyun Sang , Julie J Miller , Kevin C Corbit , Rachel H Giles , Matthew J Brauer , Edgar A Otto , Lisa M Baye , Xiaohui Wen , Suzie J Scales , Mandy Kwong , Erik G Huntzicker , Mindan K Sfakianos , Wendy Sandoval , J Fernando Bazan , Priya Kulkarni , Francesc R Garcia-Gonzalo , Allen D Seol , John F O'Toole , Susanne Held , Heiko M Reutter , William S Lane , Muhammad Arshad Rafiq , Abdul Noor , Muhammad Ansar , Akella Radha Rama Devi , Val C Sheffield , Diane C Slusarski , John B Vincent , Daniel A Doherty , Friedhelm Hildebrandt , Jeremy F Reiter , Peter K Jackson	2011-05-13	-

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