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6324 SCN1B

6324

SCN1B

sodium voltage-gated channel beta subunit 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition sodium voltage-gated channel beta subunit 1

研究结论

Date Results Publications
2021-01-16 15:54:00 Sodium channel beta1 subunits are post-translationally modified by tyrosine phosphorylation, S-palmitoylation, and regulated intramembrane proteolysis. 32503841
2020-05-02 12:02:00 The sequencing analyses of the SCN1B gene revealed the presence of a new pathogenic variation c.374C>T (p.R125L) in family A and a putative disease-associated haplotype in five families. Using multiple alignments, the c.374G>T changed a highly conserved arginine to a leucine p.R125L located in the extracellular domain of the protein. 31729702
2019-12-14 10:49:00 The S248R and R250T mutations of SCN1Bbeta gene caused gain-of-function of Ito by associated with Kv4.3, which maybe underlie the early repolarization syndrome (ERS) phenotype of the probands. 30160358
2019-08-24 10:50:00 this study reports the cryo-electron microscopy structures of the human Nav1.7-beta1-beta2 complex bound to two combinations of pore blockers and gating modifier toxins (GMTs), tetrodotoxin with protoxin-II and saxitoxin with huwentoxin-IV, both determined at overall resolutions of 3.2 angstroms. 30765606
2019-08-17 12:15:00 our results show that the role of beta1 subunit on the maturation and expression of the entire NaCh complex is of paramount importance to understand the pathological conditions resulted from a defective interaction between the NaCh constituents. 29992740

名称对应

Type IDs
Synonymous ATFB13, BRGDA5, EIEE52, GEFSP1
Gene
UniProtKB-ID: SCN1B_HUMAN, A0A1W2PR05_HUMAN
UniprotKB: Q07699, A0A1W2PR05
UniParc: UPI00000473F0, UPI00000532B2, UPI000006DD80
EMBL: BC067122, DQ677665, AC020907, AK313279, U12189, U12192, L10338, U12190, U12191, AY391842, U12193, BT019923, L16242
Ensembl: ENSG00000105711
KO: hsa:6324
Nucleutide sequences
EMBL-CDS: AAA61277.1, AAB97608.1, AAH67122.1, AAA60391.1, AAR25552.1, AAV38726.1, ABQ01236.1, BAG36087.1
Ensembl_TRS: ENST00000415950, ENST00000262631, ENST00000638536, ENST00000596348
Protein sequencees
Ensembl_PRO: ENSP00000396915, ENSP00000492022, ENSP00000262631, ENSP00000492247
RefSeq: NP_950238.1, NP_001308534.1, NP_001028.1
Others
UniRef100: UniRef100_Q07699
UniRef90: UniRef90_Q07699
UniRef50: UniRef50_Q07699
UniGene: Hs.436646
CCDS: CCDS12441.1, CCDS46047.1

全选

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