Rs1 - retinoschisis (X-linked, juvenile) 1 (human)-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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20147 Rs1

基因描述

Type	Description
Definition	retinoschisis (X-linked, juvenile) 1 (human)

研究结论

Date	Results	Publications
2020-01-18 10:10:00	These and previous results led us to suggest an induced-fit binding mechanism for the interaction between retinoschisin and the Na/K-ATPase, which is dependent on threonine 240 in ATP1B2 allowing the accommodation of hyperflexible retinoschisin spikes by the associated protein-protein interaction patch on ATP1B2.	31048931
2019-10-05 11:42:00	RS1 removal did neither influence glucose and glycogen accumulation 1 day after TBI nor up-regulation of inflammatory cytokines	30022488
2017-11-18 13:42:00	Results suggest a regulatory effect of retinoschisin on Na/K-ATPase signaling and localization, whereas Na/K-ATPase-dysregulation caused by retinoschisin deficiency could represent an initial step in XLRS pathogenesis.	28615319
2017-08-12 11:14:00	retinoschisin is a novel regulator of MAP kinase signalling and exerts an anti-apoptotic effect on retinal cells.	27995734
2016-12-17 11:56:00	Based on this structure, we propose that RS1 couples neighboring membranes together through octamer-octamer contacts, perhaps modulated by interactions with other membrane components.	27114531

名称对应

Type	IDs
Synonymous	Rs1h, Xlrs1, tmgc1
Gene	UniProtKB-ID: XLRS1_MOUSE UniprotKB: Q9Z1L4 UniParc: UPI000000B9E7 EMBL: AF084561, AF084562, AF084566, AF084564, AF084565, AF084563, AF084567, AJ011381, BC046422 Ensembl: ENSMUSG00000031293 KO: mmu:20147
Nucleutide sequences	EMBL-CDS: AAD21808.1, AAD21809.1, AAH46422.1, CAA09601.1 Ensembl_TRS: ENSMUST00000033650
Protein sequencees	Ensembl_PRO: ENSMUSP00000033650 RefSeq: NP_035432.3, XP_030107130.1
Others	UniRef100: UniRef100_Q9Z1L4 UniRef90: UniRef90_O15537 UniRef50: UniRef50_O15537 UniGene: Mm.41982 CCDS: CCDS30505.1

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mRNA

Protein

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Description

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Pubmed编号	文献信息	发表日期	相关基因
32290105	Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. Cells Gayle B Collin , Navdeep Gogna , Bo Chang , Nattaya Damkham , Jai Pinkney , Lillian F Hyde , Lisa Stone , JÃ¼rgen K Naggert , Patsy M Nishina , Mark P Krebs	2020-04-10	-
31174210	Mouse models of X-linked juvenile retinoschisis have an early onset phenotype, the severity of which varies with genotype. Hum Mol Genet Yang Liu , Junzo Kinoshita , Elena Ivanova , Duo Sun , Hong Li , Tara Liao , Jingtai Cao , Brent A Bell , Jacob M Wang , Yajun Tang , Susannah Brydges , Neal S Peachey , Botir T Sagdullaev , Carmelo Romano	2019-09-15	-
31048931	Identification of the retinoschisin-binding site on the retinal Na/K-ATPase. PLoS ONE Karolina PlÃ¶ssl , Kristina Straub , Verena Schmid , Franziska Strunz , Jens Wild , Rainer Merkl , Bernhard H F Weber , Ulrike Friedrich	2019-01-01	-
30022488	RS1 (Rsc1A1) deficiency limits cerebral SGLT1 expression and delays brain damage after experimental traumatic brain injury. J. Neurochem. Anne Sebastiani , Frederik Greve , Christina GÃ¶lz , Carola Y FÃ¶rster , Hermann Koepsell , Serge C Thal	2018-10-01	-
28615319	Retinoschisin is linked to retinal Na/K-ATPase signaling and localization. Mol. Biol. Cell Karolina PlÃ¶ssl , Melanie Royer , Sarah Bernklau , Neslihan N Tavraz , Thomas Friedrich , Jens Wild , Bernhard H F Weber , Ulrike Friedrich	2017-08-01	-
27995734	The X-linked juvenile retinoschisis protein retinoschisin is a novel regulator of mitogen-activated protein kinase signalling and apoptosis in the retina. J. Cell. Mol. Med. Karolina PlÃ¶ssl , Bernhard H F Weber , Ulrike Friedrich	2017-04-01	-
28297725	Rearing Light Intensity Affects Inner Retinal Pathology in a Mouse Model of X-Linked Retinoschisis but Does Not Alter Gene Therapy Outcome. Invest. Ophthalmol. Vis. Sci. Dario Marangoni , Zeng Yong , Sten KjellstrÃ¶m , Camasamudram Vijayasarathy , Paul A Sieving , Ronald A Bush	2017-03-01	-
29379415	Recapitulating X-Linked Juvenile Retinoschisis in Mouse Model by Knock-In Patient-Specific Novel Mutation. Front Mol Neurosci Ding Chen , Tao Xu , Mengjun Tu , Jinlin Xu , Chenchen Zhou , Lulu Cheng , Ruqing Yang , Tanchu Yang , Weiwei Zheng , Xiubin He , Ruzhi Deng , Xianglian Ge , Jin Li , Zongming Song , Junzhao Zhao , Feng Gu	2017-01-01	-
27409484	Retinal Structure and Gene Therapy Outcome in Retinoschisin-Deficient Mice Assessed by Spectral-Domain Optical Coherence Tomography. Invest. Ophthalmol. Vis. Sci. Yong Zeng , Ronald S Petralia , Camasamudram Vijayasarathy , Zhijian Wu , Suja Hiriyanna , Hongman Song , Ya-Xian Wang , Paul A Sieving , Ronald A Bush	2016-07-01	-
27114531	Paired octamer rings of retinoschisin suggest a junctional model for cell-cell adhesion in the retina. Proc. Natl. Acad. Sci. U.S.A. GÃ¶khan Tolun , Camasamudram Vijayasarathy , Rick Huang , Yong Zeng , Yan Li , Alasdair C Steven , Paul A Sieving , J Bernard Heymann	2016-05-10	-

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