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3745 KCNB1

3745

KCNB1

potassium voltage-gated channel subfamily B member 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition potassium voltage-gated channel subfamily B member 1

研究结论

Date Results Publications
2021-02-06 13:59:00 Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome. 32954514
2020-06-20 12:14:00 Epilepsy-associated mutations R312H and F416L failed to activate Ras/Akt signaling and did not enhance cell migration. 31682765
2020-06-20 10:34:00 KCNB1 haplotype did not reveal any association between haplotypes and treatment response. The results obtained suggest that gender-specific strategies for screening treatment and prevention protocols as well as KCNB1 variants may constitute an effective model for ongoing personalization medicine 32484056
2020-03-28 11:52:00 This study used transgenic mice overexpressing a human KCNB1 variant that does not oligomerize to elucidate the effects of channel's oxidation on cognitive function. Moderate oxidation of the KCNB1 channel during aging can influence neuronal networks by affecting synaptic function. 30922570
2020-03-14 11:33:00 The authors discovered that a significant role of Kv2.1 at neuronal endoplasmic reticulum-plasma membrane junctions is to promote the clustering and functional coupling of plasma membrane L-type Ca(2+) channels (LTCCs) to ryanodine receptor (RyR) endoplasmic reticulum Ca(2+) release channels. 31663850

名称对应

Type IDs
Synonymous DRK1, Kv2.1
Gene
UniProtKB-ID: KCNB1_HUMAN
UniprotKB: Q14721
UniParc: UPI000012DC80
EMBL: AF026005, X68302, AL035685, L02840
Ensembl: ENSG00000158445
KO: hsa:3745
Nucleutide sequences
EMBL-CDS: CAA48374.1, AAB88808.1, AAA36156.1
Ensembl_TRS: ENST00000371741, ENST00000635465
Protein sequencees
Ensembl_PRO: ENSP00000360806, ENSP00000489193
RefSeq: XP_011527101.1, XP_006723847.1, NP_004966.1
Others
UniRef100: UniRef100_Q14721
UniRef90: UniRef90_Q14721
UniRef50: UniRef50_P15387
UniGene: Hs.84244
CCDS: CCDS13418.1

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