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6853 SYN1

6853

SYN1

synapsin I

protein-coding

Homo sapiens

基因描述

Type Description
Definition synapsin I

研究结论

Date Results Publications
2021-01-23 13:04:00 Cooperative function of synaptophysin and synapsin in the generation of synaptic vesicle-like clusters in non-neuronal cells. 33431828
2020-12-19 13:44:00 Semaphorin 3A controls enteric neuron connectivity and is inversely associated with synapsin 1 expression in Hirschsprung disease. 32934297
2020-08-29 12:46:00 Autoantibodies to synapsin I sequestrate synapsin I and alter synaptic function. 31727880
2019-05-25 11:37:00 A surface-based group study using novel diffusion and quantitative multiparametric imaging on 13 SYN1Q555X mutation carriers and 13 age- and sex-matched controls. Results showed significant microstructural alterations in several regions usually involved in oral and written language as well as dyslexia. The most significant changes in these regions were lowered mean diffusivity and increased fractional anisotropy. 29671924
2018-05-26 11:11:00 Authors identified the c.236 C > G/p.S79W mutation in SYN1 as causative for the non-syndromic ID of the MRX50 family. Accordingly, the in vitro characterization of S79W SynI clearly indicates that the mutation does not interfere with neurodevelopmental aspects, but perturbs spontaneous SV exocytosis, SV clustering and SV lateral mobility along axons. 28973667

名称对应

Type IDs
Synonymous SYN1a, SYN1b, SYNI
Gene
UniProtKB-ID: SYN1_HUMAN
UniprotKB: P17600
UniParc: UPI0000167B47, UPI00001619CB
EMBL: M58375, M58374, M58351, M58321, M58378, M58353, M58373, M58377, Z84466, CH471164, M58376, M58371, M58341, M58359, AL009172, M55301, M58372
Ensembl: ENSG00000008056
KO: hsa:6853
Nucleutide sequences
EMBL-CDS: AAC41930.1, AAC41931.1, EAW59313.1, AAA60608.1
Ensembl_TRS: ENST00000340666, ENST00000295987
Protein sequencees
Ensembl_PRO: ENSP00000343206, ENSP00000295987
RefSeq: NP_598006.1, NP_008881.2
Others
UniRef100: UniRef100_P17600
UniRef90: UniRef90_O88935
UniRef50: UniRef50_O88935
UniGene: Hs.225936
CCDS: CCDS35233.1, CCDS14280.1

全选

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