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2992 GYG1

2992

GYG1

glycogenin 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition glycogenin 1

研究结论

Date Results Publications
2020-07-18 12:23:00 Glycogenin is at the core of glycogen's structure and initiates its glucopolymerization.[review] 31689353
2019-06-01 11:56:00 palladium-mediated enzyme activation suggests multiphase initiation of glycogenesis 30356213
2018-08-04 12:05:00 we screened the susceptibility loci for Myocardial infarction (MI) using exome sequencing and validated candidate variants in replication sets. We identified that three genes (GYG1, DIS3L and DDRGK1) were associated with MI at the discovery and replication stages. 29321365
2018-06-30 12:34:00 We present functional evidence for the pathogenicity of a novel GYG1 missense mutation located in the substrate binding domain. 29143313
2016-10-22 11:31:00 This study found a single homozygous intronic mutation of GYG1 harbored by five patients, who, except for two siblings, appear to be unrelated but all five live in central or south Sardinian villages. 26652229

名称对应

Type IDs
Synonymous GSD15, GYG
Gene
UniProtKB-ID: GLYG_HUMAN
UniprotKB: P46976
UniParc: UPI000016A9BF, UPI0000035D46, UPI000014176C
EMBL: AF065481, AF065477, BC000033, AF065479, CR536547, AC021059, U44131, CH471052, AF065480, U31525, AF065476, AF087942, X79537, AF065478
Ensembl: ENSG00000163754
KO: hsa:2992
Nucleutide sequences
EMBL-CDS: EAW78894.1, CAG38784.1, EAW78901.1, CAA56073.1, AAB09752.1, AAB00114.1, EAW78898.1, EAW78900.1, EAW78896.1, AAD52093.1, AAH00033.1, AAD31084.1, EAW78895.1
Ensembl_TRS: ENST00000296048, ENST00000484197, ENST00000345003
Protein sequencees
Ensembl_PRO: ENSP00000296048, ENSP00000420683, ENSP00000340736
RefSeq: NP_004121.2, NP_001171650.1, XP_016861764.1, NP_001171649.1, XP_016861765.1
Others
UniRef100: UniRef100_P46976
UniRef90: UniRef90_P46976
UniRef50: UniRef50_P46976
UniGene: Hs.477892
CCDS: CCDS54654.1, CCDS3139.1, CCDS54655.1

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