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6135 RPL11

6135

RPL11

ribosomal protein L11

protein-coding

Homo sapiens

基因描述

Type Description
Definition ribosomal protein L11

研究结论

Date Results Publications
2019-08-03 11:14:00 patients with RPL11 mutations were less likely to need chronic treatment. Birth defects, including cardiac, skeletal, hand, cleft lip or palate and genitourinary malformations, also varied among the various genetic groups 29044489
2018-02-24 10:35:00 PICT-1 is a major nucleolar sensor of the DNA damage repair response and an important upstream regulator of p53 via the RPL11-MDM2-p53 pathway. 27829214
2018-02-17 11:09:00 A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult. 27667165
2018-02-10 10:51:00 RPL splicing variant is associated with Diamond-Blackfan anemia. 28742285
2017-12-09 12:30:00 Simulation of HEY1 Ser-68 phosphorylation prevents its interaction with p53, RPL11 and MDM2 and abolishes HEY1 migration to nucleolar caps upon ribosomal stress. Our findings uncover a novel mechanism for cross-talk between Notch signalling and nucleolar stress 27129302

名称对应

Type IDs
Synonymous DBA7, GIG34, L11, uL5
Gene
UniProtKB-ID: RL11_HUMAN, Q5VVD0_HUMAN
UniprotKB: P62913, Q5VVD0
UniParc: UPI00000019F7, UPI0000071406
EMBL: AB007171, AF101385, AF432212, X79234, CH471134, BC018970, AK311816, L05092
Ensembl: ENSG00000142676
KO: hsa:6135
Nucleutide sequences
EMBL-CDS: BAA25831.1, CAA55816.1, AAL99919.1, AAD20460.3, AAC15856.1, AAH18970.1, EAW95068.1, BAG34759.1
Gene_ORFName: hCG_1739238
Ensembl_TRS: ENST00000374550, ENST00000643754
Protein sequencees
Ensembl_PRO: ENSP00000496250, ENSP00000363676
RefSeq: NP_000966.2, NP_001186731.1
Others
UniRef100: UniRef100_P62913
UniRef90: UniRef90_P62913
UniRef50: UniRef50_P62913
UniGene: Hs.719951
CCDS: CCDS238.1, CCDS85940.1

全选

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