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27102 EIF2AK1

27102

EIF2AK1

eukaryotic translation initiation factor 2 alpha kinase 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition eukaryotic translation initiation factor 2 alpha kinase 1

研究结论

Date Results Publications
2021-02-13 13:20:00 The HRI-regulated transcription factor ATF4 activates BCL11A transcription to silence fetal hemoglobin expression. 32299090
2020-05-30 11:32:00 mitochondrial stress is relayed to the cytosol by an OMA1-DELE1-HRI pathway; the OMA1-DELE1-HRI pathway represents a potential therapeutic target that could enable fine-tuning of the integrated stress response for beneficial outcomes in diseases that involve mitochondrial dysfunction 32132707
2020-05-16 11:46:00 Human disorders associated with deleterious variants in EIF2AK1 and EIF2AK2 have not been reported. 32197074
2020-03-07 10:24:00 Recently, HRI has been implicated in the regulation of human fetal hemoglobin production. Therefore, HRI-integrated stress response has emerged as a potential therapeutic target for hemoglobinopathies. especially under iron/heme deficiency and beta-thalassemia. [review] 31554636
2018-12-22 10:31:00 Activation of HRI is mediated by Hsp90 during stress through modulation of the HRI-Hsp90 complex 30170366

名称对应

Type IDs
Synonymous HCR, HRI
Gene
UniProtKB-ID: E2AK1_HUMAN, A0A024QZU1_HUMAN
UniprotKB: Q9BQI3, A0A024QZU1
UniParc: UPI000000166A, UPI0000161BAE
EMBL: AF181071, CH236963, AF255050, AK290327, AK075192, CH878731, AF116634, AL136563, AB037790, AF100784, AL834494, AF183414, BC006524, AF147094
Ensembl: ENSG00000086232
KO: hsa:27102
Nucleutide sequences
EMBL-CDS: BAC11461.1, AAF71057.1, AAF66736.1, AAP97223.1, EAW55049.1, AAH06524.1, BAA92607.1, EAL23714.1, AAG09683.1, CAD39152.1, BAF83016.1, AAF70289.1, CAB66498.1, AAF18391.1, EAW55051.1
Gene_ORFName: PRO1362, hCG_2008663
Ensembl_TRS: ENST00000199389
Protein sequencees
Ensembl_PRO: ENSP00000199389
RefSeq: XP_024302486.1, NP_001127807.1, NP_055228.2
Others
UniRef100: UniRef100_Q9BQI3
UniRef90: UniRef90_Q9BQI3
UniRef50: UniRef50_Q9Z2R9
UniGene: Hs.520205
CCDS: CCDS5345.1

全选

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