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6011 GRK1

6011

GRK1

G protein-coupled receptor kinase 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition G protein-coupled receptor kinase 1

研究结论

Date Results Publications
2020-10-10 12:58:00 Wide-field true-colour imaging and clinical characterization of a novel GRK1 mutation in Oguchi disease. 32146548
2018-06-30 10:58:00 In conclusion, in the present report, a novel missense mutation in GRK1 gene in homozygous state was reported in an Italian patient affected with Oguchi disease. 28511019
2017-04-08 10:52:00 Gene analysis determined a novel GRK1 mutation c.923T>C, which caused Oguchi disease in all siblings. This mutation, was demonstrated by amino acid alignment analysis to be in a phylogenetically conserved region and resulted in an amino acid change from leucine to proline at position 308. Thus, the present study reports a novel missense mutation of GRK1 in the affected members of a consanguineous Turkish family. 27511724
2016-12-31 12:00:00 AAMP Regulates Endothelial Cell Migration and Angiogenesis Through RhoA/Rho Kinase Signaling. 26350504
2015-10-24 10:29:00 In the Ca(2+)/NCS-1.D2R peptide complex, the C-terminal region adopts a 310 helix-turn-310 helix, whereas in the GRK1 peptide complex it forms an a-helix 25979333

名称对应

Type IDs
Synonymous GPRK1, RHOK, RK
Gene
UniProtKB-ID: GRK1_HUMAN
UniprotKB: Q15835
UniParc: UPI0000133B08
EMBL: L77497, L77500, L77498, L77502, AC187648, L77501, L77499, AK289912, L77496, U63973, L77503
Ensembl: ENSG00000185974, ENSG00000288263
KO: hsa:6011
Nucleutide sequences
EMBL-CDS: AAB05929.1, AAT00534.2, AAG50439.1, BAF82601.1
Ensembl_TRS: ENST00000335678, ENST00000672946
Protein sequencees
Ensembl_PRO: ENSP00000499886, ENSP00000334876
RefSeq: XP_016876173.1, NP_002920.1
Others
UniRef100: UniRef100_Q15835
UniRef90: UniRef90_Q15835
UniRef50: UniRef50_Q15835
UniGene: Hs.103501, Hs.721727
CCDS: CCDS81785.1

全选

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