Clrn1 - clarin 1-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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261738 Clrn1

基因描述

Type	Description
Definition	clarin 1

研究结论

Date	Results	Publications
2010-01-21 00:00:00	First description of German family with Usher syndrome(USH) due to USH3A mutations, including one novel. Also in Central European population, USH3A mutations should be considered in cases of USH.	17893653

名称对应

Type	IDs
Synonymous	Ush3, Ush3a
Gene	UniProtKB-ID: F1LPA1_RAT UniprotKB: F1LPA1 UniParc: UPI0000251CC3 EMBL: AABR07010718, AABR07010717 Ensembl: ENSRNOG00000042477 KO: rno:261738
Nucleutide sequences	Ensembl_TRS: ENSRNOT00000064833
Protein sequencees	Ensembl_PRO: ENSRNOP00000060407 RefSeq: NP_695211.2
Others	UniRef100: UniRef100_F1LPA1 UniRef90: UniRef90_P58418 UniRef50: UniRef50_P58418 UniGene: Rn.57072

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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
23701314	Genes and mutations causing retinitis pigmentosa. Clin. Genet. S P Daiger , L S Sullivan , S J Bowne	2013-08-01	Rbp3, Rho, Prph2, Sag, Clrn1, Prpf8, Ush2a, Pde6b, Prpf31, Rlbp1, Best1, Pde6a, Tulp1, Abca4, Rdh12, Guca1b, Rpgr, Crx, Lrat, Rp1, Pde6g, Cngb1, Cnga1, Rpe65
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	-
19539019	Localization and expression of clarin-1, the Clrn1 gene product, in auditory hair cells and photoreceptors. Hear Res Marisa Zallocchi , Daniel T Meehan , Duane Delimont , Charles Askew , Suneetha Garige , Michael Anne Gratton , Christie A Rothermund-Franklin , Dominic Cosgrove	2009-09-01	-
19414487	Usher syndrome IIIA gene clarin-1 is essential for hair cell function and associated neural activation. Hum Mol Genet Ruishuang Geng , Scott F Geller , Toshinori Hayashi , Catherine A Ray , Thomas A Reh , Olivia Bermingham-McDonogh , Sherri M Jones , Charles G Wright , Sami Melki , Yoshikazu Imanishi , Krzysztof Palczewski , Kumar N Alagramam , John G Flannery	2009-08-01	-
19423712	Clarin-1, encoded by the Usher Syndrome III causative gene, forms a membranous microdomain: possible role of clarin-1 in organizing the actin cytoskeleton. J Biol Chem Guilian Tian , Yun Zhou , Dagmar Hajkova , Masaru Miyagi , Astra Dinculescu , William W Hauswirth , Krzysztof Palczewski , Ruishuang Geng , Kumar N Alagramam , Juha Isosomppi , Eeva-Marja Sankila , John G Flannery , Yoshikazu Imanishi	2009-07-10	-
17893653	Two truncating USH3A mutations, including one novel, in a German family with Usher syndrome. Mol. Vis. Inga Ebermann , Robert Wilke , Thomas Lauhoff , Dirk LÃ¼bben , Eberhart Zrenner , Hanno JÃ¶rn Bolz	2007-01-01	Clrn1
15521980	Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability. Clin. Genet. E Aller , T Jaijo , S Oltra , J AliÃ³ , F GalÃ¡n , C NÃ¡jera , M Beneyto , J M MillÃ¡n	2004-12-01	CLRN1
12145752	Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations. Am J Hum Genet Randall R Fields , Guimei Zhou , Dali Huang , Jack R Davis , Claes MÃ¶ller , Samuel G Jacobson , William J Kimberling , Janos Sumegi	2002-09-01	-

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