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2775 GNAO1

2775

GNAO1

G protein subunit alpha o1

protein-coding

Homo sapiens

基因描述

Type Description
Definition G protein subunit alpha o1

研究结论

Date Results Publications
2021-03-28 19:08:00 Structures of the glucocorticoid-bound adhesion receptor GPR97-Go complex. 33408414
2020-11-21 13:19:00 Pediatric ependymoma: GNAO1, ASAH1, IMMT and IPO7 protein expression and 5-year prognosis correlation. 31505435
2019-10-26 11:43:00 Gnao1+/G203R mice phenocopy children with heterozygous GNAO1 G203R mutations, showing both movement disorder and a relatively mild epilepsy pattern. This mouse model should be useful in mechanistic and preclinical studies of GNAO1-related movement disorders. 30682176
2018-07-21 10:37:00 first report of siblings of opposite sex harboring the same GNAO1 mutation but showing differences in phenotype with pronounced dystonia in the boy and epilepsy in his sister. 28628939
2018-06-09 10:05:00 GNAO1 transcription was inhibited by promoter hypermethylation, contributing to its low expression. It was further revealed that the silencing effect was regulated by methyltransferase 1 (DNMT1), and was further enhanced by transforming growth factor beta (TGF-beta). 29709639

名称对应

Type IDs
Synonymous EIEE17, G-ALPHA-o, GNAO, HLA-DQB1, NEDIM
Gene
UniProtKB-ID: GNAO_HUMAN, B3KP89_HUMAN, Q6AWC5_HUMAN, Q8N6I9_HUMAN
UniprotKB: P09471, B3KP89, Q6AWC5, Q8N6I9
UniParc: UPI000004D206, UPI0000401F72, UPI00001BDAC8, UPI000007349C, UPI000037186B
EMBL: Y18213, M60163, M19184, M60161, M60164, M60159, M19182, M60158, M60157, M60162, M60160, AK056008, AF493895, BX647214, AF493894, BC030027, M60156
Ensembl: ENSG00000087258
KO: hsa:2775
Nucleutide sequences
EMBL-CDS: AAA52584.1, CAB46639.1, AAA52586.1, AAM12608.1, AAM12609.1, AAA52585.1, BAG51601.1, CAH10548.1, AAH30027.2
Ensembl_TRS: ENST00000262494, ENST00000262493, ENST00000638705
Protein sequencees
Ensembl_PRO: ENSP00000491223, ENSP00000262493, ENSP00000262494
RefSeq: XP_011521305.1, NP_620073.2, NP_066268.1
Others
UniRef100: UniRef100_P09471, UniRef100_P09471-2, UniRef100_B3KP89, UniRef100_Q8N6I9
UniRef90: UniRef90_P59215, UniRef90_B3KP89
UniRef50: UniRef50_P51875, UniRef50_P59215
UniGene: Hs.644524
CCDS: CCDS10757.1, CCDS10756.1

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