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43004 PQBP1

43004

PQBP1

Poly-glutamine tract binding protein 1

protein-coding

Drosophila melanogaster

基因描述

Type Description
Definition Poly-glutamine tract binding protein 1

研究结论

Date Results Publications
2017-05-20 14:11:00 Our data strongly support a gain-of-function pathogenic mechanism of PQBP1 c.459_462delAGAG and c.463_464dupAG mutations, and suggest that therapeutic strategies to restore FMRP function may be beneficial for those patients 28073926
2016-04-09 11:37:00 Drosophila homolog of PQBP1 (dPQBP1) is present in the cytoplasm of photoreceptor cells, and its loss results in defective rhabdomere morphogenesis, which is due to impaired Chaoptin translation. 26002102

名称对应

Type IDs
Synonymous CG11820, Dmel\CG11820, PQBP-1, dPQBP-1, dPQBP1, dpqbp1
Gene
UniProtKB-ID: Q9VBY6_DROME
UniprotKB: Q9VBY6
UniParc: UPI0000075C99
EMBL: AE014297, AY069638
EnsemblGenome: FBgn0039270
KO: dme:Dmel_CG11820
Nucleutide sequences
EMBL-CDS: AAF56390.1, AAL39783.1
Gene_ORFName: CG11820, Dmel_CG11820
EnsemblGenome_TRS: FBtr0084765
Protein sequencees
EnsemblGenome_PRO: FBpp0084140
RefSeq: NP_651331.1
Others
UniRef100: UniRef100_Q9VBY6
UniRef90: UniRef90_Q9VBY6
UniRef50: UniRef50_Q9VBY6
UniGene: Dm.2031

全选

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研究热度

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