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6231 RPS26

6231

RPS26

ribosomal protein S26

protein-coding

Homo sapiens

基因描述

Type Description
Definition ribosomal protein S26

研究结论

Date Results Publications
2019-12-07 10:08:00 A novel insert mutation c.96dupG in RPS26 was identified by whole-exome sequencing, which caused neonatal DBA in a Chinese boy. This is the first case report of a Chinese DBA10 patient who carries a small insertion in the RPS26 gene. These findings expand the mutation diversity of RPS26 and demonstrate the clinical presentations of the Chinese DBA10 patient. 31277601
2019-01-12 12:11:00 eS26-ESS and Tsr2 are components of a nuclear sorting system that co-evolved with the emergence of the nucleocytoplasmic barrier and transport carriers 30201955
2018-08-04 11:13:00 Suggest that for nuclear export, nucleophosmin could directly bind to pre-40S subunits in the mRNA exit site region where the C-terminus of eS26 is located. 29563070
2014-06-14 13:13:00 RPS26 acts distinctively in different scenarios of p53 activation. 23728348
2013-12-14 10:44:00 High frequency of RPS26 gene deletion is associated with Italian Diamond-Blackfan anemia. 22689679

名称对应

Type IDs
Synonymous DBA10, S26, eS26
Gene
UniProtKB-ID: RS26_HUMAN, A0A024RB14_HUMAN
UniprotKB: P62854, A0A024RB14
UniParc: UPI0000001687
EMBL: BC002604, X79236, BC105276, BC070220, U41448, CH471057, X69654, BC105798, CH471054, BC015832, X77770
Ensembl: ENSG00000197728
KO: hsa:6231
Nucleutide sequences
EMBL-CDS: AAH02604.1, CAA54808.1, CAA49345.1, AAC26987.1, AAI05799.1, AAH70220.1, AAI05277.1, AAH15832.1, CAA55818.1, EAW96878.1, EAW96876.1, EAX06294.1
Gene_ORFName: hCG_20716, hCG_2015359
Ensembl_TRS: ENST00000646449, ENST00000356464, ENST00000552361
Protein sequencees
Ensembl_PRO: ENSP00000450339, ENSP00000496643, ENSP00000348849
RefSeq: NP_001020.2
Others
UniRef100: UniRef100_P62854
UniRef90: UniRef90_P62854
UniRef50: UniRef50_P62854
UniGene: Hs.447562, Hs.567235, Hs.711461
CCDS: CCDS31832.1

全选

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