SLC6A5 - solute carrier family 6 member 5-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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9152 SLC6A5

基因描述

Type	Description
Definition	solute carrier family 6 member 5

研究结论

Date	Results	Publications
2020-02-15 10:10:00	An overview of hyperekplexia-associated mutations in the neuronal glycine transporter 2 (GlyT2) with special focus on dominant mutations that effect the quaternary structure of GlyT2 (review).	29859229
2015-04-25 10:25:00	analysis of the human SLC6A5 gene mutation associated with hyperekplexia	25480793
2014-08-09 10:31:00	Report that in the presence of a GlyT2 mechanism-based toxicity, reversible inhibitors might allow a tolerable balance between efficacy and toxicity.	23962079
2013-09-07 11:45:00	Constitutive endocytosis and turnover of the neuronal glycine transporter GlyT2 is dependent on ubiquitination of a C-terminal lysine cluster.	23484054
2012-11-03 11:40:00	A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2.	22753417

名称对应

Type	IDs
Synonymous	GLYT-2, GLYT2, HKPX3, NET1
Gene	UniProtKB-ID: SC6A5_HUMAN, Q4VAM4_HUMAN, Q4VAM6_HUMAN UniprotKB: Q9Y345, Q4VAM4, Q4VAM6 UniParc: UPI000050ED72, UPI00004564A5, UPI000050ED74 EMBL: AF142501, BC096320, BC096322, BC096319, AF085412, AF352733, AF117999, AC090707 Ensembl: ENSG00000165970 KO: hsa:9152
Nucleutide sequences	EMBL-CDS: AAK12641.1, AAD27892.1, AAC95145.1, AAK29670.1, AAH96319.1, AAH96322.1, AAH96320.1 Ensembl_TRS: ENST00000525748
Protein sequencees	Ensembl_PRO: ENSP00000434364 RefSeq: NP_001305298.1, XP_016874034.1, XP_016874033.1, NP_004202.4
Others	UniRef100: UniRef100_Q9Y345, UniRef100_Q4VAM6 UniRef90: UniRef90_Q9Y345 UniRef50: UniRef50_Q9Y345 UniGene: Hs.136557 CCDS: CCDS7854.1

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mRNA

Protein

UniprotKB

Description

Refseq

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全选

Pubmed编号	文献信息	发表日期	相关基因
29859229	Hyperekplexia-associated mutations in the neuronal glycine transporter 2. Neurochem. Int. Beatriz LÃ³pez-Corcuera , Esther Arribas-GonzÃ¡lez , Carmen AragÃ³n	2019-02-01	-
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	-
25480793	Molecular basis of the dominant negative effect of a glycine transporter 2 mutation associated with hyperekplexia. J. Biol. Chem. Esther Arribas-GonzÃ¡lez , Jaime de Juan-Sanz , Carmen AragÃ³n , Beatriz LÃ³pez-Corcuera	2015-01-23	SLC6A5
23962079	Reversible inhibition of the glycine transporter GlyT2 circumvents acute toxicity while preserving efficacy in the treatment of pain. Br. J. Pharmacol. A Mingorance-Le Meur , P Ghisdal , B Mullier , P De Ron , P Downey , C Van Der Perren , V Declercq , S Cornelis , M Famelart , J Van Asperen , E Jnoff , J P Courade	2013-11-01	Slc6a5, SLC6A5
23484054	Constitutive endocytosis and turnover of the neuronal glycine transporter GlyT2 is dependent on ubiquitination of a C-terminal lysine cluster. PLoS ONE Jaime de Juan-Sanz , Enrique NÃºÃ±ez , Beatriz LÃ³pez-Corcuera , Carmen AragÃ³n	2013-01-01	UCHL1, SLC6A5
22889411	Proteomics strategy to identify substrates of LNX, a PDZ domain-containing E3 ubiquitin ligase. J. Proteome Res. Zhengguang Guo , Eli Song , Sucan Ma , Xiaorong Wang , Shijuan Gao , Chen Shao , Siqi Hu , Lulu Jia , Rui Tian , Tao Xu , Youhe Gao	2012-10-05	PQBP1, PKDREJ, LRRC3B, ADRA1D, EXOC8, CTNND2, CTSO, CXADR, ABCA1, GJD4, SDK1, LNX2, PDZRN3, DOCK9, CDC42EP4, GAS2L2, CLDN17, MDGA1, GIPR, ARHGEF16, GRIN1, ABR, PDZRN4, HUNK, HTR2B, GPR142, ILF3, KCNA4, INSC, SHISA2, ARHGAP6, ARVCF, CITED1, NRCAM, BPIFA1, ABCB1, SLC6A15, PBK, PTGIR, CGN, LGR6, BCR, SSTR3, STRN, TSC2, TYRO3, UBE2D2, VRK2, WNT8A, NUP37, LNX1, PKP4, CBX4, TNFRSF18, KALRN, CLDN2, CLDN1, SLC6A5, ORMDL3, JOSD1
22700964	Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease. J Biol Chem Eloisa Carta , Seo-Kyung Chung , Victoria M James , Angela Robinson , Jennifer L Gill , Nathalie Remy , Jean-FranÃ§ois Vanbellinghen , Cheney J G Drew , Sophie Cagdas , Duncan Cameron , Frances M Cowan , Mireria Del Toro , Gail E Graham , Adnan Y Manzur , Amira Masri , Serge Rivera , Emmanuel Scalais , Rita Shiang , Kate Sinclair , Catriona A Stuart , Marina A J Tijssen , Grahame Wise , Sameer M Zuberi , Kirsten Harvey , Brian R Pearce , Maya Topf , Rhys H Thomas , StÃ©phane Supplisson , Mark I Rees , Robert J Harvey	2012-08-17	-
22753417	A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2. J Biol Chem Cecilio GimÃ©nez , Gonzalo PÃ©rez-Siles , Jaime MartÃnez-Villarreal , Esther Arribas-GonzÃ¡lez , Esperanza JimÃ©nez , Enrique NÃºÃ±ez , Jaime de Juan-Sanz , Enrique FernÃ¡ndez-SÃ¡nchez , NoemÃ GarcÃa-TardÃ³n , Ignacio IbÃ¡Ã±ez , Valeria Romanelli , JuliÃ¡n Nevado , Victoria M James , Maya Topf , Seo-Kyung Chung , Rhys H Thomas , Lourdes R Desviat , Carmen AragÃ³n , Francisco Zafra , Mark I Rees , Pablo Lapunzina , Robert J Harvey , Beatriz LÃ³pez-Corcuera	2012-08-17	-
23251661	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. PLoS One Anthony G Comuzzie , Shelley A Cole , Sandra L Laston , V Saroja Voruganti , Karin Haack , Richard A Gibbs , Nancy F Butte	2012-01-01	-
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	-

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