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81027 TUBB1

81027

TUBB1

tubulin beta 1 class VI

protein-coding

Homo sapiens

基因描述

Type Description
Definition tubulin beta 1 class VI

研究结论

Date Results Publications
2020-06-13 13:05:00 Author found that the nuclear accumulation of p53 (also termed TP53) and the expression of pro-apoptotic genes triggered by genotoxic stress were blocked in TUBB1-deficient cells and, accordingly, apoptosis after DNA damage was diminished by knockdown of TUBB1. 30854628
2019-11-16 12:36:00 novel mutation is detected in the exon of the TUBB1 gene in children with hypothyroidism and thyroid dysgenesis in Shandong 31642429
2019-07-27 12:15:00 TUBB1 mutations caused the formation of macroplatelets and hyperaggregation of human platelets after stimulation by low doses of agonists. 30446499
2019-04-20 10:13:00 A novel mutation (c.1267C>T nonsense mutation (p.Q423*)) located in the C-terminal part of the beta1-tubulin protein is reported, confirming that this domain plays a key role in microtubule assembly. 27905099
2018-08-11 10:11:00 Neonatal platelets exhibit low levels of the Stx11-Munc18b complex (essential component of the SNARE machinery) and of beta1-tubulin. These developmental deficiencies are associated with defects in platelet adhesion, spreading and secretion. 29044293

名称对应

Type IDs
Gene
UniProtKB-ID: TBB1_HUMAN
UniprotKB: Q9H4B7
UniParc: UPI0000071B14
EMBL: AL109840, BC033679, AJ292757
Ensembl: ENSG00000101162
KO: hsa:81027
Nucleutide sequences
EMBL-CDS: AAH33679.1, CAC16605.1
Ensembl_TRS: ENST00000217133
Protein sequencees
Ensembl_PRO: ENSP00000217133
RefSeq: XP_016883574.1, NP_110400.1
Others
UniRef100: UniRef100_Q9H4B7
UniRef90: UniRef90_Q9H4B7
UniRef50: UniRef50_Q9H4B7
UniGene: Hs.303023
CCDS: CCDS13475.1

全选

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研究热度

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