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1140 CHRNB1

1140

CHRNB1

cholinergic receptor nicotinic beta 1 subunit

protein-coding

Homo sapiens

基因描述

Type Description
Definition cholinergic receptor nicotinic beta 1 subunit

研究结论

Date Results Publications
2017-11-11 13:41:00 Study traced the cause of congenital myasthenia syndrome in unrelated patients with dominant missense mutations in the M2 domain of AChR. A valine residue is replaced by a smaller alanine either in the epsilon subunit or an equivalent position in the beta one. Also, each valine in the valine ring was found to contribute to channel kinetics equally, and the valine ring has bee optimized during evolution to govern channe... 27375219
2017-04-01 12:15:00 This study reports on the presence of the CHRNB1 at the cellular level in human skeletal muscle and placenta and that mRNA expression mirrors that of protein within cell types. 28153524
2014-03-22 10:06:00 These findings identify novel Golgi retention signals in the beta and delta subunit loops that regulate surface trafficking of assembled AChR and may help prevent surface expression of unassembled subunits. 24240098
2013-01-26 11:42:00 Single nucleotide polymorphisms , rs55633891 (alpha9, C>T) and rs17856697 (beta1, A>G), did not exhibit a significant trend to be associated with cervical lesions. 22406075
2010-12-05 22:09:00 Observational study of gene-disease association. (HuGE Navigator) 20734064

名称对应

Type IDs
Synonymous ACHRB, CHRNB, CMS1D, CMS2A, CMS2C, SCCMS
Gene
UniProtKB-ID: ACHB_HUMAN
UniprotKB: P11230
UniParc: UPI0001914FCA, UPI0000125257
EMBL: BC011371, BC023553, X14830, AK298938, AC113189
Ensembl: ENSG00000170175, ENSG00000283946
KO: hsa:1140
Nucleutide sequences
EMBL-CDS: BAH12907.1, AAH11371.1, CAA32939.1, AAH23553.1
Ensembl_TRS: ENST00000639692, ENST00000306071, ENST00000536404, ENST00000639993
Protein sequencees
Ensembl_PRO: ENSP00000304290, ENSP00000492221, ENSP00000439209, ENSP00000491113
RefSeq: NP_000738.2
Others
UniRef100: UniRef100_P11230
UniRef90: UniRef90_P11230
UniRef50: UniRef50_P11230
UniGene: Hs.330386
CCDS: CCDS11106.1

全选

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